SLC44A1 (solute carrier family 44 member 1) - Rat Genome Database

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Gene: SLC44A1 (solute carrier family 44 member 1) Homo sapiens
Analyze
Symbol: SLC44A1
Name: solute carrier family 44 member 1
RGD ID: 1352703
HGNC Page HGNC:18798
Description: Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in high grade glioma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CD92; CDW92; CDW92 antigen; choline transporter-like protein 1; CHTL1; CONATOC; CTL1; RP11-287A8.1; solute carrier family 44 (choline transporter), member 1; solute carrier family 44, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389105,244,651 - 105,438,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9105,244,622 - 105,439,171 (+)EnsemblGRCh38hg38GRCh38
GRCh379108,006,932 - 108,200,785 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369107,046,750 - 107,193,503 (+)NCBINCBI36Build 36hg18NCBI36
Build 349105,086,662 - 105,233,235NCBI
Celera978,512,264 - 78,659,033 (+)NCBICelera
Cytogenetic Map9q31.1-q31.2NCBI
HuRef977,662,832 - 77,755,005 (+)NCBIHuRef
CHM1_19108,153,858 - 108,300,587 (+)NCBICHM1_1
T2T-CHM13v2.09117,419,258 - 117,613,150 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (EXP)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
indometacin  (EXP)
inulin  (ISO)
irinotecan  (ISO)
isobutanol  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
Soman  (ISO)
succimer  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
extracellular exosome  (HDA)
membrane  (HDA,IEA,TAS)
mitochondrial outer membrane  (IDA,IEA,TAS)
mitochondrion  (IDA,IEA)
nucleoplasm  (IDA)
plasma membrane  (IBA,IDA,IEA,IMP,TAS)

Molecular Function

Phenotype 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. An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. O'Regan S, etal., Proc Natl Acad Sci U S A 2000 Feb 15;97(4):1835-40.
3. Papillary glioneuronal tumors: histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion. Pages M, etal., Acta Neuropathol Commun. 2015 Dec 15;3:85. doi: 10.1186/s40478-015-0264-5.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11698453   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:15691711   PMID:15715662   PMID:16319125   PMID:16344560   PMID:16609143   PMID:17192395   PMID:19056867  
PMID:19322201   PMID:19357133   PMID:19448620   PMID:19519661   PMID:19946888   PMID:20410607   PMID:20458337   PMID:21185344   PMID:21873635   PMID:21900206   PMID:22483272   PMID:23651124  
PMID:23948665   PMID:25466896   PMID:26186194   PMID:26590417   PMID:26601765   PMID:26746385   PMID:28514442   PMID:29117863   PMID:29408621   PMID:29507755   PMID:30280653   PMID:30442762  
PMID:30776907   PMID:31122150   PMID:31855247   PMID:31974614   PMID:32333675   PMID:32694731   PMID:33672580   PMID:33789160   PMID:33961781   PMID:35271311   PMID:35337019   PMID:36168628  
PMID:36776133  


Genomics

Comparative Map Data
SLC44A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389105,244,651 - 105,438,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9105,244,622 - 105,439,171 (+)EnsemblGRCh38hg38GRCh38
GRCh379108,006,932 - 108,200,785 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369107,046,750 - 107,193,503 (+)NCBINCBI36Build 36hg18NCBI36
Build 349105,086,662 - 105,233,235NCBI
Celera978,512,264 - 78,659,033 (+)NCBICelera
Cytogenetic Map9q31.1-q31.2NCBI
HuRef977,662,832 - 77,755,005 (+)NCBIHuRef
CHM1_19108,153,858 - 108,300,587 (+)NCBICHM1_1
T2T-CHM13v2.09117,419,258 - 117,613,150 (+)NCBIT2T-CHM13v2.0
Slc44a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39453,440,387 - 53,622,478 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl453,440,413 - 53,622,478 (+)EnsemblGRCm39 Ensembl
GRCm38453,440,387 - 53,622,478 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl453,440,413 - 53,622,478 (+)EnsemblGRCm38mm10GRCm38
MGSCv37453,453,285 - 53,635,350 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36453,461,757 - 53,643,578 (+)NCBIMGSCv36mm8
Celera453,407,313 - 53,583,394 (+)NCBICelera
Cytogenetic Map4B2NCBI
Slc44a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2568,061,941 - 68,241,912 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl568,063,618 - 68,241,909 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx569,950,696 - 70,129,475 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0571,770,988 - 71,949,352 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0571,739,507 - 71,918,288 (+)NCBIRnor_WKY
Rnor_6.0570,243,643 - 70,424,115 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl570,245,843 - 70,424,112 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0574,404,993 - 74,582,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4570,877,553 - 71,056,112 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1570,882,673 - 71,061,224 (+)NCBI
Celera566,958,117 - 67,136,227 (+)NCBICelera
Cytogenetic Map5q24NCBI
Slc44a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541921,092,380 - 21,231,070 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541921,092,583 - 21,277,294 (-)NCBIChiLan1.0ChiLan1.0
SLC44A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1933,948,960 - 34,143,295 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0976,417,869 - 76,612,233 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19104,599,572 - 104,737,620 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9104,597,755 - 104,737,620 (+)Ensemblpanpan1.1panPan2
SLC44A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11161,120,858 - 61,313,250 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1161,120,176 - 61,312,590 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1159,582,008 - 59,773,782 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01162,256,080 - 62,448,662 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1162,256,143 - 62,448,667 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11160,775,818 - 60,926,372 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01160,794,294 - 60,986,332 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01161,487,297 - 61,679,198 (+)NCBIUU_Cfam_GSD_1.0
Slc44a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947176,322,852 - 176,499,812 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365596,818,459 - 6,904,139 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365596,766,307 - 6,903,286 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC44A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1246,548,497 - 246,760,514 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11246,548,461 - 246,760,527 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21276,190,887 - 276,354,123 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC44A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11234,068,642 - 34,261,635 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1234,067,318 - 34,261,402 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660358,378,802 - 8,572,470 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc44a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247585,960,094 - 6,151,653 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247585,963,281 - 6,152,870 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC44A1
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh37/hg19 9q31.1(chr9:107972883-108105377)x3 copy number gain See cases [RCV000184091] Chr9:107972883..108105377 [GRCh37]
Chr9:9q31.1		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1 copy number loss See cases [RCV000134976] Chr9:103767420..112984794 [GRCh38]
Chr9:106529701..115747074 [GRCh37]
Chr9:105569522..114786895 [NCBI36]
Chr9:9q31.1-32		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3		 pathogenic|likely pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3 copy number gain See cases [RCV000140793] Chr9:104810184..107473921 [GRCh38]
Chr9:107572465..110236202 [GRCh37]
Chr9:106612286..109276023 [NCBI36]
Chr9:9q31.1-31.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3 copy number gain See cases [RCV000143264] Chr9:104036284..105935181 [GRCh38]
Chr9:106798565..108697462 [GRCh37]
Chr9:105838386..107737283 [NCBI36]
Chr9:9q31.1-31.2		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NC_000009.11:g.(?_102339410)_(109549354_?)del deletion Schizophrenia [RCV000416788] Chr9:102339410..109549354 [GRCh37]
Chr9:101379231..108589175 [NCBI36]
Chr9:9q22.33-31.2		 likely pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1 copy number loss See cases [RCV000447957] Chr9:103271401..113948226 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1 copy number loss not provided [RCV000683163] Chr9:106487247..114541579 [GRCh37]
Chr9:9q31.1-31.3		 pathogenic
NM_080546.5(SLC44A1):c.1053C>G (p.Tyr351Ter) single nucleotide variant not provided [RCV001052424] Chr9:105362973 [GRCh38]
Chr9:108125254 [GRCh37]
Chr9:9q31.1		 pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1(chr9:107954622-108108081)x3 copy number gain not provided [RCV000748585] Chr9:107954622..108108081 [GRCh37]
Chr9:9q31.1		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter) single nucleotide variant Neurodevelopmental disorder [RCV000991395] Chr9:105362929 [GRCh38]
Chr9:108125210 [GRCh37]
Chr9:9q31.1		 likely pathogenic
NM_080546.5(SLC44A1):c.1549del (p.Asp517fs) deletion Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline [RCV001090059] Chr9:105374651 [GRCh38]
Chr9:108136932 [GRCh37]
Chr9:9q31.1		 pathogenic
NM_080546.5:c.126+5161_270-2343del deletion Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline [RCV001090061] Chr9:105304470..105333220 [GRCh38]
Chr9:108066751..108095501 [GRCh37]
Chr9:9q31.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_080546.5(SLC44A1):c.377_380del (p.Ser126fs) deletion Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline [RCV001090060] Chr9:105335667..105335670 [GRCh38]
Chr9:108097948..108097951 [GRCh37]
Chr9:9q31.1		 pathogenic
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3 copy number gain not provided [RCV001834515] Chr9:102858276..110624997 [GRCh37]
Chr9:9q31.1-31.2		 uncertain significance
NC_000009.11:g.(?_107546596)_(108536361_?)dup duplication Walker-Warburg congenital muscular dystrophy [RCV003122463] Chr9:107546596..108536361 [GRCh37]
Chr9:9q31.1-31.2		 uncertain significance
NM_080546.5(SLC44A1):c.588del (p.Ser196fs) deletion Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline [RCV002283939] Chr9:105356299 [GRCh38]
Chr9:108118580 [GRCh37]
Chr9:9q31.1		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_080546.5(SLC44A1):c.1429T>C (p.Cys477Arg) single nucleotide variant Inborn genetic diseases [RCV002794543] Chr9:105366364 [GRCh38]
Chr9:108128645 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.70C>T (p.Arg24Cys) single nucleotide variant Inborn genetic diseases [RCV002981001] Chr9:105299253 [GRCh38]
Chr9:108061534 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.286G>A (p.Asp96Asn) single nucleotide variant Inborn genetic diseases [RCV002884931] Chr9:105335579 [GRCh38]
Chr9:108097860 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.58C>T (p.Pro20Ser) single nucleotide variant Inborn genetic diseases [RCV002848478] Chr9:105299241 [GRCh38]
Chr9:108061522 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.22T>A (p.Ser8Thr) single nucleotide variant Inborn genetic diseases [RCV002931547] Chr9:105244890 [GRCh38]
Chr9:108007171 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1166T>A (p.Val389Glu) single nucleotide variant Inborn genetic diseases [RCV002854424] Chr9:105364633 [GRCh38]
Chr9:108126914 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1306A>G (p.Ile436Val) single nucleotide variant Inborn genetic diseases [RCV002957136] Chr9:105365535 [GRCh38]
Chr9:108127816 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.163G>A (p.Ala55Thr) single nucleotide variant Inborn genetic diseases [RCV002804522] Chr9:105309760 [GRCh38]
Chr9:108072041 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.397G>A (p.Glu133Lys) single nucleotide variant Inborn genetic diseases [RCV002959801] Chr9:105335690 [GRCh38]
Chr9:108097971 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1082C>G (p.Thr361Ser) single nucleotide variant Inborn genetic diseases [RCV002965199] Chr9:105363002 [GRCh38]
Chr9:108125283 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1182G>C (p.Trp394Cys) single nucleotide variant Inborn genetic diseases [RCV002879318] Chr9:105364649 [GRCh38]
Chr9:108126930 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1769A>T (p.Tyr590Phe) single nucleotide variant Inborn genetic diseases [RCV002941064] Chr9:105383259 [GRCh38]
Chr9:108145540 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.23C>T (p.Ser8Phe) single nucleotide variant Inborn genetic diseases [RCV003192702] Chr9:105244891 [GRCh38]
Chr9:108007172 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1591A>G (p.Thr531Ala) single nucleotide variant Inborn genetic diseases [RCV003191349] Chr9:105374694 [GRCh38]
Chr9:108136975 [GRCh37]
Chr9:9q31.1		 likely benign
NM_080546.5(SLC44A1):c.223A>G (p.Lys75Glu) single nucleotide variant Inborn genetic diseases [RCV003200980] Chr9:105309820 [GRCh38]
Chr9:108072101 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.137G>A (p.Cys46Tyr) single nucleotide variant Inborn genetic diseases [RCV003212360] Chr9:105309734 [GRCh38]
Chr9:108072015 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1805C>G (p.Ala602Gly) single nucleotide variant Inborn genetic diseases [RCV003201920] Chr9:105383295 [GRCh38]
Chr9:108145576 [GRCh37]
Chr9:9q31.1		 uncertain significance
NM_080546.5(SLC44A1):c.1363A>C (p.Ile455Leu) single nucleotide variant Inborn genetic diseases [RCV003173409] Chr9:105365592 [GRCh38]
Chr9:108127873 [GRCh37]
Chr9:9q31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9731
Count of miRNA genes:1304
Interacting mature miRNAs:1695
Transcripts:ENST00000343170, ENST00000374720, ENST00000374723, ENST00000374724, ENST00000470972, ENST00000607692, ENST00000607701
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.

Markers in Region
D9S1784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,038,745 - 108,038,930UniSTSGRCh37
Build 369107,078,566 - 107,078,751RGDNCBI36
Celera978,544,078 - 78,544,265RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,640,067 - 77,640,262UniSTS
Marshfield Genetic Map9111.99UniSTS
Marshfield Genetic Map9111.99RGD
Genethon Genetic Map9112.0UniSTS
deCODE Assembly Map9108.07UniSTS
SGC38127  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,153,069 - 108,153,326UniSTSGRCh37
Build 369107,192,890 - 107,193,147RGDNCBI36
Celera978,658,420 - 78,658,677RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,754,392 - 77,754,649UniSTS
GeneMap99-GB4 RH Map9340.99UniSTS
Whitehead-RH Map9399.2UniSTS
NCBI RH Map9858.6UniSTS
RH80136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,200,559 - 108,200,752UniSTSGRCh37
Build 369107,240,380 - 107,240,573RGDNCBI36
Celera978,705,923 - 78,706,116RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,801,904 - 77,802,097UniSTS
GeneMap99-GB4 RH Map9340.48UniSTS
RH79975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,152,507 - 108,152,712UniSTSGRCh37
Build 369107,192,328 - 107,192,533RGDNCBI36
Celera978,657,860 - 78,658,065RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,753,832 - 77,754,037UniSTS
RH103128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,152,427 - 108,152,549UniSTSGRCh37
Build 369107,192,248 - 107,192,370RGDNCBI36
Celera978,657,780 - 78,657,902RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,753,752 - 77,753,874UniSTS
G60369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,038,747 - 108,038,927UniSTSGRCh37
Build 369107,078,568 - 107,078,748RGDNCBI36
Celera978,544,080 - 78,544,262RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,640,069 - 77,640,259UniSTS
TNG Radiation Hybrid Map934730.0UniSTS
TNG Radiation Hybrid Map932200.0UniSTS
CDW92_9350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,153,027 - 108,153,724UniSTSGRCh37
Build 369107,192,848 - 107,193,545RGDNCBI36
Celera978,658,378 - 78,659,075RGD
HuRef977,754,350 - 77,755,047UniSTS
WI-17320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379108,153,524 - 108,153,655UniSTSGRCh37
Build 369107,193,345 - 107,193,476RGDNCBI36
Celera978,658,875 - 78,659,006RGD
Cytogenetic Map9q31.2UniSTS
HuRef977,754,847 - 77,754,978UniSTS
GeneMap99-GB4 RH Map9341.01UniSTS
Whitehead-RH Map9398.1UniSTS
NCBI RH Map9858.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1710 1363 1169 359 784 290 3490 613 2990 285 904 1603 86 1 1083 1967 6 2
Low 729 1602 557 265 1141 175 867 1583 744 133 556 10 89 121 821
Below cutoff 26 26 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_080546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ245620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU125248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE502051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM799970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD101684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF994263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA073110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA616095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB297628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374720   ⟹   ENSP00000363852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,651 - 105,397,346 (+)Ensembl
RefSeq Acc Id: ENST00000374723   ⟹   ENSP00000363855
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,622 - 105,397,346 (+)Ensembl
RefSeq Acc Id: ENST00000374724   ⟹   ENSP00000363856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,622 - 105,439,171 (+)Ensembl
RefSeq Acc Id: ENST00000436716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,386,688 - 105,396,018 (+)Ensembl
RefSeq Acc Id: ENST00000470972   ⟹   ENSP00000433072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,622 - 105,397,346 (+)Ensembl
RefSeq Acc Id: ENST00000607692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,294,666 - 105,335,587 (+)Ensembl
RefSeq Acc Id: ENST00000607701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,355,917 - 105,357,243 (+)Ensembl
RefSeq Acc Id: ENST00000699289   ⟹   ENSP00000514270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,804 - 105,390,332 (+)Ensembl
RefSeq Acc Id: ENST00000699290   ⟹   ENSP00000514271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9105,244,804 - 105,390,415 (+)Ensembl
RefSeq Acc Id: NM_001286730   ⟹   NP_001273659
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,244,651 - 105,397,346 (+)NCBI
HuRef977,662,832 - 77,760,955 (+)NCBI
CHM1_19108,153,823 - 108,306,534 (+)NCBI
T2T-CHM13v2.09117,419,258 - 117,571,973 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330731   ⟹   NP_001317660
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,244,651 - 105,438,504 (+)NCBI
T2T-CHM13v2.09117,419,258 - 117,613,150 (+)NCBI
Sequence:
RefSeq Acc Id: NM_080546   ⟹   NP_536856
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,244,651 - 105,397,346 (+)NCBI
GRCh379108,006,906 - 108,200,785 (+)NCBI
Build 369107,046,750 - 107,193,503 (+)NCBI Archive
HuRef977,662,832 - 77,760,955 (+)NCBI
CHM1_19108,153,823 - 108,306,534 (+)NCBI
T2T-CHM13v2.09117,419,258 - 117,571,973 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251855   ⟹   XP_005251912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,244,651 - 105,385,712 (+)NCBI
GRCh379108,006,906 - 108,200,785 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717027   ⟹   XP_006717090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,273,502 - 105,385,712 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717028   ⟹   XP_006717091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,258,061 - 105,397,346 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717029   ⟹   XP_006717092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,273,502 - 105,438,504 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423117   ⟹   XP_047279073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,299,673 - 105,397,346 (+)NCBI
RefSeq Acc Id: XM_054362554   ⟹   XP_054218529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,448,114 - 117,560,317 (+)NCBI
RefSeq Acc Id: XM_054362555   ⟹   XP_054218530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,419,258 - 117,560,317 (+)NCBI
RefSeq Acc Id: XM_054362556   ⟹   XP_054218531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,432,673 - 117,571,973 (+)NCBI
RefSeq Acc Id: XM_054362557   ⟹   XP_054218532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,448,114 - 117,613,150 (+)NCBI
RefSeq Acc Id: XM_054362558   ⟹   XP_054218533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09117,474,348 - 117,571,973 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_536856   ⟸   NM_080546
- Peptide Label: isoform a
- UniProtKB: Q9NY69 (UniProtKB/Swiss-Prot),   Q8WWI5 (UniProtKB/Swiss-Prot),   A0A024R151 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251912   ⟸   XM_005251855
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001273659   ⟸   NM_001286730
- Peptide Label: isoform b
- UniProtKB: Q8WWI5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717092   ⟸   XM_006717029
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717091   ⟸   XM_006717028
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006717090   ⟸   XM_006717027
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001317660   ⟸   NM_001330731
- Peptide Label: isoform c
- UniProtKB: Q8WWI5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000363852   ⟸   ENST00000374720
RefSeq Acc Id: ENSP00000363855   ⟸   ENST00000374723
RefSeq Acc Id: ENSP00000363856   ⟸   ENST00000374724
RefSeq Acc Id: ENSP00000433072   ⟸   ENST00000470972
RefSeq Acc Id: XP_047279073   ⟸   XM_047423117
- Peptide Label: isoform X5
RefSeq Acc Id: ENSP00000514271   ⟸   ENST00000699290
RefSeq Acc Id: ENSP00000514270   ⟸   ENST00000699289
RefSeq Acc Id: XP_054218530   ⟸   XM_054362555
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218531   ⟸   XM_054362556
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218532   ⟸   XM_054362557
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218529   ⟸   XM_054362554
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218533   ⟸   XM_054362558
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WWI5-F1-model_v2 AlphaFold Q8WWI5 1-657 view protein structure

Promoters
RGD ID:7215761
Promoter ID:EPDNEW_H13617
Type:initiation region
Name:SLC44A1_1
Description:solute carrier family 44 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389105,244,651 - 105,244,711EPDNEW
RGD ID:6808240
Promoter ID:HG_KWN:64387
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:ENST00000374723,   ENST00000374724,   OTTHUMT00000053499,   OTTHUMT00000053500
Position:
Human AssemblyChrPosition (strand)Source
Build 369107,046,386 - 107,047,077 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18798 AgrOrtholog
COSMIC SLC44A1 COSMIC
Ensembl Genes ENSG00000070214 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363852 ENTREZGENE
  ENSP00000363852.3 UniProtKB/Swiss-Prot
  ENSP00000363855 ENTREZGENE
  ENSP00000363855.1 UniProtKB/Swiss-Prot
  ENSP00000363856 ENTREZGENE
  ENSP00000363856.1 UniProtKB/Swiss-Prot
  ENSP00000433072.1 UniProtKB/Swiss-Prot
  ENSP00000514270.1 UniProtKB/TrEMBL
  ENSP00000514271 ENTREZGENE
  ENSP00000514271.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000374720 ENTREZGENE
  ENST00000374720.8 UniProtKB/Swiss-Prot
  ENST00000374723 ENTREZGENE
  ENST00000374723.5 UniProtKB/Swiss-Prot
  ENST00000374724 ENTREZGENE
  ENST00000374724.1 UniProtKB/Swiss-Prot
  ENST00000470972.5 UniProtKB/Swiss-Prot
  ENST00000699289.1 UniProtKB/TrEMBL
  ENST00000699290 ENTREZGENE
  ENST00000699290.1 UniProtKB/TrEMBL
GTEx ENSG00000070214 GTEx
HGNC ID HGNC:18798 ENTREZGENE
Human Proteome Map SLC44A1 Human Proteome Map
InterPro Choline_transptr-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23446 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23446 ENTREZGENE
OMIM 606105 OMIM
PANTHER CHOLINE TRANSPORTER-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12385 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Choline_transpo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134958011 PharmGKB
UniProt A0A024R151 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TN05_HUMAN UniProtKB/TrEMBL
  A0A8V8TN34_HUMAN UniProtKB/TrEMBL
  CTL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NY69 ENTREZGENE
UniProt Secondary A6NLZ9 UniProtKB/Swiss-Prot
  Q5VUB3 UniProtKB/Swiss-Prot
  Q8WVB0 UniProtKB/Swiss-Prot
  Q96KU3 UniProtKB/Swiss-Prot
  Q9NY69 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC44A1  solute carrier family 44 member 1    solute carrier family 44 (choline transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC44A1  solute carrier family 44 (choline transporter), member 1    solute carrier family 44, member 1  Symbol and/or name change 5135510 APPROVED