PPM1A (protein phosphatase, Mg2+/Mn2+ dependent 1A) - Rat Genome Database

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Gene: PPM1A (protein phosphatase, Mg2+/Mn2+ dependent 1A) Homo sapiens
Analyze
Symbol: PPM1A
Name: protein phosphatase, Mg2+/Mn2+ dependent 1A
RGD ID: 731572
HGNC Page HGNC:9275
Description: Enables R-SMAD binding activity and calmodulin-dependent protein phosphatase activity. Involved in peptidyl-threonine dephosphorylation; positive regulation of DNA-templated transcription; and regulation of signal transduction. Located in cytosol; nucleus; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ42306; MGC9201; phosphatase 2C alpha; PP2C-ALPHA; PP2CA; PP2Calpha; protein phosphatase 1A; protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform; protein phosphatase 1a, magnesium dependent, alpha isoform; protein phosphatase 2C alpha isoform; protein phosphatase 2C isoform alpha; protein phosphatase IA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PPM1AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381460,245,750 - 60,299,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1460,245,752 - 60,299,087 (+)EnsemblGRCh38hg38GRCh38
GRCh371460,712,468 - 60,765,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361459,782,223 - 59,829,826 (+)NCBINCBI36Build 36hg18NCBI36
Build 341459,782,222 - 59,829,823NCBI
Celera1440,762,274 - 40,815,941 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1440,876,613 - 40,929,690 (+)NCBIHuRef
CHM1_11460,651,750 - 60,705,118 (+)NCBICHM1_1
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clozapine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (EXP)
haloperidol  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone enanthate  (EXP)
thapsigargin  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triticonazole  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,ISS,TAS)
membrane  (IEA,ISS)
neuron projection  (ISO)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)
plasma membrane  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1311954   PMID:8386634   PMID:9003755   PMID:9707433   PMID:10400656   PMID:10480873   PMID:10580002   PMID:10644691   PMID:11479720   PMID:11559703   PMID:11959144   PMID:12477932  
PMID:12514180   PMID:12548019   PMID:12761501   PMID:14663150   PMID:14702039   PMID:15016818   PMID:15489334   PMID:15728831   PMID:16344560   PMID:16541025   PMID:16712791   PMID:16751101  
PMID:16931515   PMID:17353931   PMID:17620599   PMID:17729405   PMID:18482992   PMID:18586681   PMID:18829461   PMID:18930133   PMID:19404668   PMID:20379614   PMID:20801214   PMID:20970119  
PMID:21873635   PMID:21960005   PMID:21988832   PMID:22036096   PMID:22041443   PMID:22519956   PMID:22588298   PMID:22727189   PMID:23184937   PMID:23560844   PMID:23779087   PMID:23812431  
PMID:23906386   PMID:24337577   PMID:24901250   PMID:24981860   PMID:25026293   PMID:25036637   PMID:25241761   PMID:25277244   PMID:25815785   PMID:25900982   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26912792   PMID:27004401   PMID:27121309   PMID:27195906   PMID:27301936   PMID:27328942   PMID:27432908   PMID:27591049   PMID:27716508   PMID:27880917   PMID:28065597  
PMID:28176854   PMID:28283039   PMID:28302793   PMID:28481111   PMID:28514442   PMID:28581483   PMID:28718761   PMID:29128334   PMID:29343725   PMID:29602904   PMID:29676528   PMID:29791485  
PMID:29898761   PMID:29991511   PMID:30021884   PMID:30201805   PMID:31329338   PMID:31686644   PMID:31741433   PMID:31791585   PMID:31792727   PMID:31909517   PMID:31980649   PMID:32024237  
PMID:32348176   PMID:32502539   PMID:32698014   PMID:32878540   PMID:33060197   PMID:33724144   PMID:33961781   PMID:34336002   PMID:34637963   PMID:34857952   PMID:34861123   PMID:35391932  
PMID:35421368   PMID:35543156   PMID:35831314   PMID:35909127   PMID:35944360   PMID:36179025   PMID:36215168   PMID:36756789   PMID:36931259   PMID:37167062   PMID:37314216   PMID:37317656  
PMID:37827155   PMID:38908195  


Genomics

Comparative Map Data
PPM1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381460,245,750 - 60,299,087 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1460,245,752 - 60,299,087 (+)EnsemblGRCh38hg38GRCh38
GRCh371460,712,468 - 60,765,805 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361459,782,223 - 59,829,826 (+)NCBINCBI36Build 36hg18NCBI36
Build 341459,782,222 - 59,829,823NCBI
Celera1440,762,274 - 40,815,941 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1440,876,613 - 40,929,690 (+)NCBIHuRef
CHM1_11460,651,750 - 60,705,118 (+)NCBICHM1_1
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBIT2T-CHM13v2.0
Ppm1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391272,804,231 - 72,846,593 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1272,804,229 - 72,846,593 (+)EnsemblGRCm39 Ensembl
GRCm381272,761,211 - 72,799,819 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1272,757,455 - 72,799,819 (+)EnsemblGRCm38mm10GRCm38
MGSCv371273,862,198 - 73,895,927 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361273,680,442 - 73,713,400 (+)NCBIMGSCv36mm8
Celera1273,877,430 - 73,911,618 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1230.26NCBI
Ppm1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8697,174,955 - 97,216,585 (+)NCBIGRCr8
mRatBN7.2691,439,094 - 91,486,139 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl691,438,834 - 91,480,697 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx691,813,295 - 91,850,303 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0692,112,780 - 92,149,786 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0691,540,724 - 91,577,731 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0694,433,658 - 94,484,979 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl694,429,068 - 94,484,351 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06103,874,809 - 103,935,598 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4695,162,067 - 95,198,936 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1695,165,522 - 95,202,392 (+)NCBI
Celera689,903,080 - 89,939,925 (+)NCBICelera
Cytogenetic Map6q24NCBI
Ppm1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554669,315,227 - 9,362,028 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554669,315,227 - 9,331,213 (-)NCBIChiLan1.0ChiLan1.0
PPM1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21561,383,205 - 61,436,054 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11460,599,719 - 60,650,493 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01440,853,227 - 40,906,044 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11459,117,020 - 59,169,524 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1459,117,020 - 59,162,928 (+)Ensemblpanpan1.1panPan2
PPM1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1835,336,055 - 35,384,249 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl835,336,140 - 35,377,551 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha835,089,958 - 35,138,127 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0835,569,192 - 35,617,610 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl835,569,135 - 35,612,853 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1835,181,328 - 35,229,483 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0835,258,261 - 35,306,410 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0835,618,239 - 35,666,378 (+)NCBIUU_Cfam_GSD_1.0
Ppm1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864069,633,876 - 69,685,180 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364954,542,464 - 4,553,944 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364954,542,576 - 4,560,603 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPM1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1189,207,577 - 189,291,345 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11189,248,974 - 189,296,147 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21210,387,426 - 210,406,136 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPM1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12437,474,371 - 37,522,956 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2437,506,914 - 37,516,414 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605325,721,273 - 25,769,924 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PPM1A
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3
pathogenic
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3
pathogenic
GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1 copy number loss See cases [RCV000051522] Chr14:58146022..61273619 [GRCh38]
Chr14:58612740..61740337 [GRCh37]
Chr14:57682493..60810090 [NCBI36]
Chr14:14q23.1
pathogenic
NM_177952.2(PPM1A):c.494C>T (p.Pro165Leu) single nucleotide variant Malignant melanoma [RCV000062767] Chr14:60282978 [GRCh38]
Chr14:60749696 [GRCh37]
Chr14:59819449 [NCBI36]
Chr14:14q23.1
not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_021003.5(PPM1A):c.50G>A (p.Gly17Glu) single nucleotide variant not specified [RCV004319046] Chr14:60282753 [GRCh38]
Chr14:60749471 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3 copy number gain not provided [RCV000683618] Chr14:60011801..61106182 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.1(chr14:60440064-60765170)x3 copy number gain not provided [RCV000738507] Chr14:60440064..60765170 [GRCh37]
Chr14:14q23.1
benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1 copy number loss not provided [RCV002472446] Chr14:57804997..63590203 [GRCh37]
Chr14:14q22.3-23.2
likely pathogenic
NM_021003.5(PPM1A):c.465G>C (p.Arg155Ser) single nucleotide variant not specified [RCV004184842] Chr14:60283168 [GRCh38]
Chr14:60749886 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.237C>G (p.Ile79Met) single nucleotide variant not specified [RCV004167098] Chr14:60282940 [GRCh38]
Chr14:60749658 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.942C>G (p.Cys314Trp) single nucleotide variant not specified [RCV004222482] Chr14:60285731 [GRCh38]
Chr14:60752449 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.786T>G (p.Asp262Glu) single nucleotide variant not specified [RCV004069755] Chr14:60283489 [GRCh38]
Chr14:60750207 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.785A>G (p.Asp262Gly) single nucleotide variant not specified [RCV004159943] Chr14:60283488 [GRCh38]
Chr14:60750206 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.921G>T (p.Glu307Asp) single nucleotide variant not specified [RCV004113888] Chr14:60285710 [GRCh38]
Chr14:60752428 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.688G>A (p.Asp230Asn) single nucleotide variant not specified [RCV004082813] Chr14:60283391 [GRCh38]
Chr14:60750109 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.68G>A (p.Arg23Gln) single nucleotide variant not specified [RCV004135122] Chr14:60282771 [GRCh38]
Chr14:60749489 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.893C>T (p.Ser298Leu) single nucleotide variant not specified [RCV004177334] Chr14:60285682 [GRCh38]
Chr14:60752400 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.687A>T (p.Glu229Asp) single nucleotide variant not specified [RCV004206035] Chr14:60283390 [GRCh38]
Chr14:60750108 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.155C>T (p.Ser52Leu) single nucleotide variant not specified [RCV004284960] Chr14:60282858 [GRCh38]
Chr14:60749576 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.71A>T (p.Tyr24Phe) single nucleotide variant not specified [RCV004338304] Chr14:60282774 [GRCh38]
Chr14:60749492 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1 copy number loss not provided [RCV003483204] Chr14:55667390..64447598 [GRCh37]
Chr14:14q22.3-23.2
pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1
pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1
likely pathogenic
NM_021003.5(PPM1A):c.1069G>A (p.Val357Ile) single nucleotide variant not specified [RCV004507152] Chr14:60291404 [GRCh38]
Chr14:60758122 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.-18C>G single nucleotide variant not specified [RCV004507153] Chr14:60282686 [GRCh38]
Chr14:60749404 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.341T>C (p.Val114Ala) single nucleotide variant not specified [RCV004507155] Chr14:60283044 [GRCh38]
Chr14:60749762 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_021003.5(PPM1A):c.623A>G (p.Lys208Arg) single nucleotide variant not specified [RCV004507156] Chr14:60283326 [GRCh38]
Chr14:60750044 [GRCh37]
Chr14:14q23.1
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR377hsa-miR-377-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotNon-Functional MTI18716028

Predicted Target Of
Summary Value
Count of predictions:4531
Count of miRNA genes:1306
Interacting mature miRNAs:1729
Transcripts:ENST00000325642, ENST00000325658, ENST00000395076, ENST00000525399, ENST00000528241, ENST00000529574, ENST00000531143, ENST00000531937, ENST00000532036
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407119157GWAS768133_Hhair colour measurement QTL GWAS768133 (human)3e-16hair colour measurementcoat/hair color measurement (CMO:0001808)146027650160276502Human
407309486GWAS958462_Htriglyceride measurement QTL GWAS958462 (human)2e-11triglyceride measurementblood triglyceride level (CMO:0000118)146028240060282401Human
406905789GWAS554765_Hrenal agenesis, unilateral QTL GWAS554765 (human)0.0000006renal agenesis, unilateral146026138960261390Human
407093996GWAS742972_Hhair color QTL GWAS742972 (human)1e-12hair color146027650160276502Human

Markers in Region
RH98675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,764,087 - 60,764,253UniSTSGRCh37
Build 361459,833,840 - 59,834,006RGDNCBI36
Celera1440,814,223 - 40,814,389RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,927,972 - 40,928,138UniSTS
GeneMap99-GB4 RH Map14136.62UniSTS
RH92556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,765,548 - 60,765,734UniSTSGRCh37
Build 361459,835,301 - 59,835,487RGDNCBI36
Celera1440,815,684 - 40,815,870RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,929,433 - 40,929,619UniSTS
GeneMap99-GB4 RH Map14136.62UniSTS
RH102741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,755,096 - 60,755,274UniSTSGRCh37
Build 361459,824,849 - 59,825,027RGDNCBI36
Celera1440,805,232 - 40,805,410RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,918,981 - 40,919,159UniSTS
GeneMap99-GB4 RH Map14136.62UniSTS
RH124067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,752,959 - 60,753,237UniSTSGRCh37
Build 361459,822,712 - 59,822,990RGDNCBI36
Celera1440,803,095 - 40,803,373RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,916,844 - 40,917,122UniSTS
TNG Radiation Hybrid Map1418959.0UniSTS
D14S656E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,759,428 - 60,759,633UniSTSGRCh37
Build 361459,829,181 - 59,829,386RGDNCBI36
Celera1440,809,564 - 40,809,769RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,923,313 - 40,923,518UniSTS
D14S794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,756,612 - 60,756,734UniSTSGRCh37
Build 361459,826,365 - 59,826,487RGDNCBI36
Celera1440,806,748 - 40,806,870RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,920,497 - 40,920,619UniSTS
PPM1A__5759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,752,506 - 60,753,388UniSTSGRCh37
Build 361459,822,259 - 59,823,141RGDNCBI36
Celera1440,802,642 - 40,803,524RGD
HuRef1440,916,391 - 40,917,273UniSTS
STS-AA034525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,753,112 - 60,753,229UniSTSGRCh37
Build 361459,822,865 - 59,822,982RGDNCBI36
Celera1440,803,248 - 40,803,365RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,916,997 - 40,917,114UniSTS
GeneMap99-GB4 RH Map14136.72UniSTS
D14S1259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371460,759,298 - 60,759,644UniSTSGRCh37
Build 361459,829,051 - 59,829,397RGDNCBI36
Celera1440,809,434 - 40,809,780RGD
Cytogenetic Map14q23.1UniSTS
HuRef1440,923,183 - 40,923,529UniSTS
Whitehead-YAC Contig Map14 UniSTS
GeneMap99-G3 RH Map142052.0UniSTS
RH17916  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
GeneMap99-GB4 RH Map14136.62UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2438 2788 2253 4972 1726 2351 5 624 1951 465 2269 7304 6470 53 3733 1 852 1744 1617 174

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI076736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY236965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF511118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ876369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA427296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA439296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L32169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S87759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000325642   ⟹   ENSP00000327255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,245,752 - 60,292,731 (+)Ensembl
Ensembl Acc Id: ENST00000325658   ⟹   ENSP00000314850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,249,441 - 60,288,555 (+)Ensembl
Ensembl Acc Id: ENST00000395076   ⟹   ENSP00000378514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,249,221 - 60,299,087 (+)Ensembl
Ensembl Acc Id: ENST00000525399   ⟹   ENSP00000435398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,250,431 - 60,283,266 (+)Ensembl
Ensembl Acc Id: ENST00000528241   ⟹   ENSP00000431453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,249,660 - 60,283,089 (+)Ensembl
Ensembl Acc Id: ENST00000531143   ⟹   ENSP00000437200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,245,757 - 60,292,482 (+)Ensembl
Ensembl Acc Id: ENST00000531937   ⟹   ENSP00000435575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,256,762 - 60,283,147 (+)Ensembl
Ensembl Acc Id: ENST00000532036   ⟹   ENSP00000436445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1460,245,785 - 60,293,355 (+)Ensembl
RefSeq Acc Id: NM_021003   ⟹   NP_066283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
GRCh371460,712,470 - 60,765,805 (+)ENTREZGENE
GRCh371460,712,470 - 60,765,805 (+)NCBI
Build 361459,785,818 - 59,829,826 (+)NCBI Archive
HuRef1440,876,613 - 40,929,690 (+)ENTREZGENE
CHM1_11460,655,246 - 60,705,118 (+)NCBI
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177951   ⟹   NP_808820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,288,555 (+)NCBI
GRCh371460,712,470 - 60,765,805 (+)ENTREZGENE
GRCh371460,712,470 - 60,765,805 (+)NCBI
Build 361459,785,818 - 59,823,180 (+)NCBI Archive
HuRef1440,876,613 - 40,929,690 (+)ENTREZGENE
CHM1_11460,655,246 - 60,694,586 (+)NCBI
T2T-CHM13v2.01454,455,514 - 54,494,849 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177952   ⟹   NP_808821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,299,087 (+)NCBI
GRCh371460,712,470 - 60,765,805 (+)ENTREZGENE
GRCh371460,712,470 - 60,765,805 (+)NCBI
Build 361459,782,223 - 59,829,826 (+)NCBI Archive
HuRef1440,876,613 - 40,929,690 (+)ENTREZGENE
CHM1_11460,651,750 - 60,705,118 (+)NCBI
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536881   ⟹   XP_011535183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,266,573 - 60,299,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536883   ⟹   XP_011535185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021383   ⟹   XP_016876872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449637   ⟹   XP_024305405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431499   ⟹   XP_047287455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431500   ⟹   XP_047287456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431501   ⟹   XP_047287457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431502   ⟹   XP_047287458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,278,755 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431503   ⟹   XP_047287459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,260,040 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431504   ⟹   XP_047287460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,260,040 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431505   ⟹   XP_047287461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431506   ⟹   XP_047287462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431507   ⟹   XP_047287463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431508   ⟹   XP_047287464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431509   ⟹   XP_047287465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,250,162 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431510   ⟹   XP_047287466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431511   ⟹   XP_047287467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431512   ⟹   XP_047287468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431513   ⟹   XP_047287469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431514   ⟹   XP_047287470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431515   ⟹   XP_047287471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_047431516   ⟹   XP_047287472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,248,468 - 60,299,087 (+)NCBI
RefSeq Acc Id: XM_054376254   ⟹   XP_054232229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376255   ⟹   XP_054232230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376256   ⟹   XP_054232231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376257   ⟹   XP_054232232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376258   ⟹   XP_054232233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,485,049 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376259   ⟹   XP_054232234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,466,334 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376260   ⟹   XP_054232235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,466,334 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376261   ⟹   XP_054232236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,472,867 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376262   ⟹   XP_054232237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376263   ⟹   XP_054232238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376264   ⟹   XP_054232239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376265   ⟹   XP_054232240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376266   ⟹   XP_054232241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,456,455 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376267   ⟹   XP_054232242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376268   ⟹   XP_054232243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376269   ⟹   XP_054232244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,452,043 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376270   ⟹   XP_054232245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376271   ⟹   XP_054232246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376272   ⟹   XP_054232247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376273   ⟹   XP_054232248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376274   ⟹   XP_054232249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,455,514 - 54,505,381 (+)NCBI
RefSeq Acc Id: XM_054376275   ⟹   XP_054232250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01454,454,759 - 54,505,381 (+)NCBI
Protein Sequences
Protein RefSeqs NP_066283 (Get FASTA)   NCBI Sequence Viewer  
  NP_808820 (Get FASTA)   NCBI Sequence Viewer  
  NP_808821 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535183 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535185 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876872 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305405 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287455 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287456 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287457 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287458 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287459 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287460 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287461 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287462 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287463 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287464 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287465 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287466 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287467 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287468 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287469 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287470 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287471 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232239 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232242 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232243 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232250 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB21784 (Get FASTA)   NCBI Sequence Viewer  
  AAC28354 (Get FASTA)   NCBI Sequence Viewer  
  AAH26691 (Get FASTA)   NCBI Sequence Viewer  
  AAH63243 (Get FASTA)   NCBI Sequence Viewer  
  AAQ20086 (Get FASTA)   NCBI Sequence Viewer  
  BAG36141 (Get FASTA)   NCBI Sequence Viewer  
  BAG70061 (Get FASTA)   NCBI Sequence Viewer  
  BAG70185 (Get FASTA)   NCBI Sequence Viewer  
  EAW80774 (Get FASTA)   NCBI Sequence Viewer  
  EAW80775 (Get FASTA)   NCBI Sequence Viewer  
  EAW80776 (Get FASTA)   NCBI Sequence Viewer  
  EAW80777 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000314850
  ENSP00000314850.3
  ENSP00000327255
  ENSP00000327255.3
  ENSP00000378514
  ENSP00000378514.4
  ENSP00000431453.2
  ENSP00000435398.2
  ENSP00000435575.1
  ENSP00000436445.2
  ENSP00000437200.2
GenBank Protein P35813 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_808821   ⟸   NM_177952
- Peptide Label: isoform 3
- UniProtKB: B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_808820   ⟸   NM_177951
- Peptide Label: isoform 2
- UniProtKB: B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_066283   ⟸   NM_021003
- Peptide Label: isoform 1
- UniProtKB: J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot),   P35813 (UniProtKB/Swiss-Prot),   B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535185   ⟸   XM_011536883
- Peptide Label: isoform X3
- UniProtKB: J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot),   P35813 (UniProtKB/Swiss-Prot),   B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535183   ⟸   XM_011536881
- Peptide Label: isoform X3
- UniProtKB: J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot),   P35813 (UniProtKB/Swiss-Prot),   B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876872   ⟸   XM_017021383
- Peptide Label: isoform X1
- UniProtKB: B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305405   ⟸   XM_024449637
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot),   B2R8E4 (UniProtKB/TrEMBL),   B5BUD5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000435575   ⟸   ENST00000531937
Ensembl Acc Id: ENSP00000437200   ⟸   ENST00000531143
Ensembl Acc Id: ENSP00000436445   ⟸   ENST00000532036
Ensembl Acc Id: ENSP00000314850   ⟸   ENST00000325658
Ensembl Acc Id: ENSP00000327255   ⟸   ENST00000325642
Ensembl Acc Id: ENSP00000435398   ⟸   ENST00000525399
Ensembl Acc Id: ENSP00000378514   ⟸   ENST00000395076
Ensembl Acc Id: ENSP00000431453   ⟸   ENST00000528241
RefSeq Acc Id: XP_047287461   ⟸   XM_047431505
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287464   ⟸   XM_047431508
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287467   ⟸   XM_047431511
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287468   ⟸   XM_047431512
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287472   ⟸   XM_047431516
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287455   ⟸   XM_047431499
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047287457   ⟸   XM_047431501
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047287463   ⟸   XM_047431507
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287469   ⟸   XM_047431513
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287471   ⟸   XM_047431515
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287456   ⟸   XM_047431500
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047287466   ⟸   XM_047431510
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287462   ⟸   XM_047431506
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287470   ⟸   XM_047431514
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287465   ⟸   XM_047431509
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287459   ⟸   XM_047431503
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287460   ⟸   XM_047431504
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047287458   ⟸   XM_047431502
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054232237   ⟸   XM_054376262
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232240   ⟸   XM_054376265
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232243   ⟸   XM_054376268
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232244   ⟸   XM_054376269
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232250   ⟸   XM_054376275
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232229   ⟸   XM_054376254
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232231   ⟸   XM_054376256
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232232   ⟸   XM_054376257
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232239   ⟸   XM_054376264
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232245   ⟸   XM_054376270
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232247   ⟸   XM_054376272
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232249   ⟸   XM_054376274
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232230   ⟸   XM_054376255
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232242   ⟸   XM_054376267
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232238   ⟸   XM_054376263
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232246   ⟸   XM_054376271
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232248   ⟸   XM_054376273
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232241   ⟸   XM_054376266
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232234   ⟸   XM_054376259
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232235   ⟸   XM_054376260
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232236   ⟸   XM_054376261
- Peptide Label: isoform X3
- UniProtKB: P35813 (UniProtKB/Swiss-Prot),   J3KNM0 (UniProtKB/Swiss-Prot),   B5BU11 (UniProtKB/Swiss-Prot),   O75551 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054232233   ⟸   XM_054376258
- Peptide Label: isoform X2
Protein Domains
PPM-type phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35813-F1-model_v2 AlphaFold P35813 1-382 view protein structure

Promoters
RGD ID:6791818
Promoter ID:HG_KWN:19511
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_177952,   UC001XEV.1,   UC010APN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361459,781,844 - 59,782,344 (+)MPROMDB
RGD ID:6791804
Promoter ID:HG_KWN:19512
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395075,   NM_021003,   OTTHUMT00000276950
Position:
Human AssemblyChrPosition (strand)Source
Build 361459,784,951 - 59,786,002 (+)MPROMDB
RGD ID:6810652
Promoter ID:HG_ACW:23070
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:PPM1A.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361459,786,386 - 59,786,967 (+)MPROMDB
RGD ID:7227767
Promoter ID:EPDNEW_H19629
Type:initiation region
Name:PPM1A_3
Description:protein phosphatase, Mg2+/Mn2+ dependent 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19630  EPDNEW_H19631  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,245,750 - 60,245,810EPDNEW
RGD ID:7227769
Promoter ID:EPDNEW_H19630
Type:initiation region
Name:PPM1A_1
Description:protein phosphatase, Mg2+/Mn2+ dependent 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19629  EPDNEW_H19631  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,221 - 60,249,281EPDNEW
RGD ID:7227771
Promoter ID:EPDNEW_H19631
Type:initiation region
Name:PPM1A_2
Description:protein phosphatase, Mg2+/Mn2+ dependent 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19629  EPDNEW_H19630  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,249,484 - 60,249,544EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9275 AgrOrtholog
COSMIC PPM1A COSMIC
Ensembl Genes ENSG00000100614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000325642 ENTREZGENE
  ENST00000325642.7 UniProtKB/Swiss-Prot
  ENST00000325658 ENTREZGENE
  ENST00000325658.3 UniProtKB/Swiss-Prot
  ENST00000395076 ENTREZGENE
  ENST00000395076.9 UniProtKB/Swiss-Prot
  ENST00000525399.2 UniProtKB/TrEMBL
  ENST00000528241.2 UniProtKB/TrEMBL
  ENST00000531143.6 UniProtKB/TrEMBL
  ENST00000531937.1 UniProtKB/TrEMBL
  ENST00000532036.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.430 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100614 GTEx
HGNC ID HGNC:9275 ENTREZGENE
Human Proteome Map PPM1A Human Proteome Map
InterPro PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM-type_phosphatase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5494 UniProtKB/Swiss-Prot
NCBI Gene 5494 ENTREZGENE
OMIM 606108 OMIM
PANTHER PROTEIN PHOSPHATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN PHOSPHATASE 1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PP2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2C_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33603 PharmGKB
PROSITE PPM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PP2Cc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81601 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R8E4 ENTREZGENE, UniProtKB/TrEMBL
  B5BU11 ENTREZGENE
  B5BUD5 ENTREZGENE, UniProtKB/TrEMBL
  E9PJN3_HUMAN UniProtKB/TrEMBL
  E9PKB5_HUMAN UniProtKB/TrEMBL
  E9PL75_HUMAN UniProtKB/TrEMBL
  E9PNE1_HUMAN UniProtKB/TrEMBL
  E9PP44_HUMAN UniProtKB/TrEMBL
  J3KNM0 ENTREZGENE
  L8EAT3_HUMAN UniProtKB/TrEMBL
  O75551 ENTREZGENE
  P35813 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B5BU11 UniProtKB/Swiss-Prot
  J3KNM0 UniProtKB/Swiss-Prot
  O75551 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPM1A  protein phosphatase, Mg2+/Mn2+ dependent 1A  PPM1A  protein phosphatase, Mg2+/Mn2+ dependent, 1A  Symbol and/or name change 5135510 APPROVED
2011-07-27 PPM1A  protein phosphatase, Mg2+/Mn2+ dependent, 1A  PPM1A  protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform  Symbol and/or name change 5135510 APPROVED