UCHL3 (ubiquitin C-terminal hydrolase L3) - Rat Genome Database

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Gene: UCHL3 (ubiquitin C-terminal hydrolase L3) Homo sapiens
Analyze
Symbol: UCHL3
Name: ubiquitin C-terminal hydrolase L3
RGD ID: 731673
HGNC Page HGNC:12515
Description: Enables cysteine-type deubiquitinase activity and ubiquitin binding activity. Involved in protein catabolic process. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: testicular tissue protein Li 221; ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase); ubiquitin carboxyl-terminal hydrolase isozyme L3; ubiquitin thioesterase L3; ubiquitin thiolesterase; UCH-L3
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
GRCh381375,549,502 - 75,606,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1375,549,483 - 75,606,020 (+)EnsemblGRCh38hg38GRCh38
GRCh371376,123,638 - 76,180,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361375,021,928 - 75,078,070 (+)NCBINCBI36Build 36hg18NCBI36
Build 341375,021,927 - 75,078,067NCBI
Celera1357,021,803 - 57,077,943 (+)NCBICelera
Cytogenetic Map13q22.2NCBI
HuRef1356,821,075 - 56,877,308 (+)NCBIHuRef
CHM1_11376,091,356 - 76,147,870 (+)NCBICHM1_1
T2T-CHM13v2.01374,773,163 - 74,829,671 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1H-pyrazole  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
ammonium chloride  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzatropine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
DDT  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (EXP)
graphite  (ISO)
inulin  (ISO)
ivermectin  (EXP)
lead(0)  (ISO)
lead(II) chloride  (ISO)
Mesaconitine  (ISO)
methapyrilene  (ISO)
methidathion  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
sarin  (EXP)
SB 431542  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
temozolomide  (EXP)
thalidomide  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
undecane  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,TAS)
nucleoplasm  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia. Kurihara LJ, etal., Hum Mol Genet 2001 Sep 1;10(18):1963-70.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2530630   PMID:9233788   PMID:9521656   PMID:9790970   PMID:10518943   PMID:10527871   PMID:12477932   PMID:12721789   PMID:14595809   PMID:14673145   PMID:14702039   PMID:15057823  
PMID:15489334   PMID:15531586   PMID:16344560   PMID:16402389   PMID:16503656   PMID:16713569   PMID:17207965   PMID:18029348   PMID:18601651   PMID:19047059   PMID:19154770   PMID:19343046  
PMID:19476499   PMID:19615732   PMID:19636824   PMID:20622874   PMID:21235224   PMID:21453705   PMID:21762696   PMID:21873635   PMID:21900206   PMID:22086173   PMID:22118674   PMID:22279964  
PMID:22284438   PMID:22510564   PMID:22626734   PMID:22679485   PMID:22939629   PMID:23105109   PMID:23376485   PMID:23562823   PMID:23801757   PMID:23824909   PMID:24798214   PMID:25194810  
PMID:25369561   PMID:25590432   PMID:26186194   PMID:26235645   PMID:26344197   PMID:27066941   PMID:27182664   PMID:27576135   PMID:27684187   PMID:27780264   PMID:27941124   PMID:28190767  
PMID:28338014   PMID:28514442   PMID:28583475   PMID:28935764   PMID:29119051   PMID:29576527   PMID:29898404   PMID:30559450   PMID:30589182   PMID:31113933   PMID:31391242   PMID:31417184  
PMID:31477831   PMID:31541095   PMID:31598398   PMID:31642235   PMID:32180254   PMID:32203420   PMID:32416067   PMID:32486284   PMID:32546741   PMID:32738097   PMID:32814053   PMID:32865982  
PMID:33141564   PMID:33238157   PMID:33277362   PMID:33616859   PMID:33669244   PMID:33903120   PMID:33961781   PMID:34016790   PMID:34642328   PMID:34732716   PMID:35053210   PMID:35088238  
PMID:35256949   PMID:35349166   PMID:35705029   PMID:35987950   PMID:36114200   PMID:36142702   PMID:36215168   PMID:36527747   PMID:36724073   PMID:36813921   PMID:37524875   PMID:37740194  
PMID:38092274   PMID:38172120   PMID:38266402   PMID:38474064  


Genomics

Comparative Map Data
UCHL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381375,549,502 - 75,606,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1375,549,483 - 75,606,020 (+)EnsemblGRCh38hg38GRCh38
GRCh371376,123,638 - 76,180,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361375,021,928 - 75,078,070 (+)NCBINCBI36Build 36hg18NCBI36
Build 341375,021,927 - 75,078,067NCBI
Celera1357,021,803 - 57,077,943 (+)NCBICelera
Cytogenetic Map13q22.2NCBI
HuRef1356,821,075 - 56,877,308 (+)NCBIHuRef
CHM1_11376,091,356 - 76,147,870 (+)NCBICHM1_1
T2T-CHM13v2.01374,773,163 - 74,829,671 (+)NCBIT2T-CHM13v2.0
Uchl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914101,891,387 - 101,933,561 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14101,891,403 - 101,933,561 (+)EnsemblGRCm39 Ensembl
GRCm3814101,653,892 - 101,696,125 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14101,653,967 - 101,696,125 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714102,053,184 - 102,095,342 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614100,540,246 - 100,582,053 (+)NCBIMGSCv36mm8
Celera14100,293,249 - 100,335,409 (+)NCBICelera
Cytogenetic Map14E2.3NCBI
cM Map1450.9NCBI
Uchl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81584,888,847 - 84,942,095 (+)NCBIGRCr8
mRatBN7.21578,485,304 - 78,527,355 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3161,856,958 - 161,857,835 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl1578,485,315 - 78,527,355 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1582,496,066 - 82,538,090 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01583,572,627 - 83,614,651 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01580,493,216 - 80,535,240 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01586,153,624 - 86,198,127 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1586,153,628 - 86,198,127 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01589,919,728 - 89,964,227 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41585,628,490 - 85,670,420 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1577,676,770 - 77,718,591 (+)NCBICelera
Cytogenetic Map15q21NCBI
Uchl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540431,414,208 - 31,464,968 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540431,414,076 - 31,465,205 (-)NCBIChiLan1.0ChiLan1.0
UCHL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21477,127,881 - 77,183,967 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11375,725,673 - 75,781,714 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01356,776,436 - 56,832,539 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11375,549,305 - 75,878,805 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1375,549,647 - 75,878,673 (+)Ensemblpanpan1.1panPan2
UCHL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12229,348,962 - 29,397,944 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2229,348,706 - 29,407,965 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2229,151,524 - 29,258,782 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02229,625,506 - 29,732,716 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2229,684,385 - 29,736,169 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12229,276,538 - 29,383,650 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02229,320,217 - 29,427,245 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02229,388,463 - 29,495,905 (+)NCBIUU_Cfam_GSD_1.0
Uchl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945130,107,193 - 130,163,980 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365115,522,965 - 5,581,334 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365115,524,425 - 5,581,156 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCHL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1147,828,421 - 47,887,629 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11147,829,037 - 47,885,800 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21152,436,220 - 52,477,054 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UCHL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl354,647,590 - 54,706,497 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604610,791,194 - 10,849,805 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Uchl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475124,882,705 - 24,940,105 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475124,882,580 - 24,940,301 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UCHL3
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] Chr13:71509212..82146085 [GRCh38]
Chr13:72083344..82720220 [GRCh37]
Chr13:70981345..81618221 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 copy number loss See cases [RCV000134874] Chr13:66320998..87855429 [GRCh38]
Chr13:66895130..88507684 [GRCh37]
Chr13:65793131..87305685 [NCBI36]
Chr13:13q21.32-31.2		 pathogenic
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 copy number loss See cases [RCV000134951] Chr13:60536344..84553188 [GRCh38]
Chr13:61110478..85127323 [GRCh37]
Chr13:60008479..84025324 [NCBI36]
Chr13:13q21.2-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 copy number loss See cases [RCV000138575] Chr13:72681540..79638468 [GRCh38]
Chr13:73255678..80212603 [GRCh37]
Chr13:72153679..79110604 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 copy number loss See cases [RCV000141460] Chr13:63713365..79638415 [GRCh38]
Chr13:64287498..80212550 [GRCh37]
Chr13:63185499..79110551 [NCBI36]
Chr13:13q21.31-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 copy number loss See cases [RCV000240205] Chr13:72013791..88021559 [GRCh37]
Chr13:13q21.33-31.2		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 copy number loss See cases [RCV000598789] Chr13:74459395..93481294 [GRCh37]
Chr13:13q22.1-31.3		 pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 copy number loss See cases [RCV000448053] Chr13:72174742..82221361 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 copy number loss See cases [RCV000448229] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006002.5(UCHL3):c.167T>A (p.Phe56Tyr) single nucleotide variant Inborn genetic diseases [RCV003287926] Chr13:75560865 [GRCh38]
Chr13:76135001 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3		 pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 copy number loss not provided [RCV001006577] Chr13:71502357..86571730 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) copy number loss not specified [RCV002053064] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831) copy number loss not specified [RCV002053070] Chr13:75574661..87784831 [GRCh37]
Chr13:13q22.2-31.2		 pathogenic
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 copy number loss not provided [RCV001834426] Chr13:59574760..89410027 [GRCh37]
Chr13:13q21.1-31.2		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q22.2(chr13:75822317-76275317)x4 copy number gain not provided [RCV002472667] Chr13:75822317..76275317 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1 copy number loss not provided [RCV002475822] Chr13:73600015..77624907 [GRCh37]
Chr13:13q22.1-22.3		 uncertain significance
NM_006002.5(UCHL3):c.342A>C (p.Glu114Asp) single nucleotide variant Inborn genetic diseases [RCV002768189] Chr13:75567228 [GRCh38]
Chr13:76141364 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_006002.5(UCHL3):c.274A>G (p.Ser92Gly) single nucleotide variant Inborn genetic diseases [RCV002916870] Chr13:75566785 [GRCh38]
Chr13:76140921 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_006002.5(UCHL3):c.215A>G (p.Lys72Arg) single nucleotide variant Inborn genetic diseases [RCV002878405] Chr13:75566726 [GRCh38]
Chr13:76140862 [GRCh37]
Chr13:13q22.2		 uncertain significance
NM_006002.5(UCHL3):c.130A>G (p.Met44Val) single nucleotide variant Inborn genetic diseases [RCV003200756] Chr13:75560828 [GRCh38]
Chr13:76134964 [GRCh37]
Chr13:13q22.2		 uncertain significance
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1 copy number loss not provided [RCV003483189] Chr13:71119640..76667297 [GRCh37]
Chr13:13q21.33-22.2		 uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 copy number loss not specified [RCV003987013] Chr13:56450978..93582180 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:350
Count of miRNA genes:196
Interacting mature miRNAs:203
Transcripts:ENST00000377595, ENST00000419068, ENST00000471792, ENST00000606347, ENST00000607339
Prediction methods:Microtar, Miranda, Rnahybrid
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
SHGC-30014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371376,179,925 - 76,180,024UniSTSGRCh37
Build 361375,077,926 - 75,078,025RGDNCBI36
Celera1357,077,799 - 57,077,898RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,877,077 - 56,877,176UniSTS
TNG Radiation Hybrid Map1326361.0UniSTS
Stanford-G3 RH Map132002.0UniSTS
GeneMap99-GB4 RH Map13219.31UniSTS
Whitehead-RH Map13196.0UniSTS
NCBI RH Map13633.1UniSTS
GeneMap99-G3 RH Map131995.0UniSTS
RH119058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371376,167,809 - 76,168,148UniSTSGRCh37
Build 361375,065,810 - 75,066,149RGDNCBI36
Celera1357,065,685 - 57,066,024RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,865,169 - 56,865,508UniSTS
TNG Radiation Hybrid Map1326357.0UniSTS
D13S1208E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371376,179,913 - 76,180,016UniSTSGRCh37
Build 361375,077,914 - 75,078,017RGDNCBI36
Celera1357,077,787 - 57,077,890RGD
Cytogenetic Map13q22.2UniSTS
HuRef1356,877,065 - 56,877,168UniSTS
UCHL3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371376,179,867 - 76,179,970UniSTSGRCh37
Celera1357,077,741 - 57,077,844UniSTS
HuRef1356,877,019 - 56,877,122UniSTS


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 1644 1444 1411 321 759 179 4043 1338 2092 181 1025 1359 153 899 2648 3
Low 795 1543 315 303 1191 286 313 856 1642 237 434 254 21 1 305 140 3 2
Below cutoff 4 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001270952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA234624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ427804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA820150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M30496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377595   ⟹   ENSP00000366819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,549,791 - 75,606,020 (+)Ensembl
RefSeq Acc Id: ENST00000419068   ⟹   ENSP00000398189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,566,710 - 75,605,949 (+)Ensembl
RefSeq Acc Id: ENST00000471792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,549,483 - 75,594,990 (+)Ensembl
RefSeq Acc Id: ENST00000606347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,569,123 - 75,605,930 (+)Ensembl
RefSeq Acc Id: ENST00000607339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,604,527 - 75,605,933 (+)Ensembl
RefSeq Acc Id: ENST00000618773   ⟹   ENSP00000477746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1375,549,480 - 75,606,020 (+)Ensembl
RefSeq Acc Id: NM_001270952   ⟹   NP_001257881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,502 - 75,606,020 (+)NCBI
GRCh371376,123,616 - 76,180,156 (+)NCBI
HuRef1356,821,075 - 56,877,308 (+)NCBI
CHM1_11376,091,356 - 76,147,870 (+)NCBI
T2T-CHM13v2.01374,773,163 - 74,829,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006002   ⟹   NP_005993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,606,020 (+)NCBI
GRCh371376,123,616 - 76,180,156 (+)NCBI
Build 361375,021,928 - 75,078,070 (+)NCBI Archive
HuRef1356,821,075 - 56,877,308 (+)NCBI
CHM1_11376,091,626 - 76,147,870 (+)NCBI
T2T-CHM13v2.01374,773,452 - 74,829,671 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535212   ⟹   XP_011533514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,606,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535213   ⟹   XP_011533515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,606,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535214   ⟹   XP_011533516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,502 - 75,606,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020725   ⟹   XP_016876214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,601,802 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020726   ⟹   XP_016876215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,597,893 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020727   ⟹   XP_016876216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,606,020 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430582   ⟹   XP_047286538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,601,788 (+)NCBI
RefSeq Acc Id: XM_047430583   ⟹   XP_047286539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,597,893 (+)NCBI
RefSeq Acc Id: XM_054374916   ⟹   XP_054230891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,829,671 (+)NCBI
RefSeq Acc Id: XM_054374917   ⟹   XP_054230892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,829,671 (+)NCBI
RefSeq Acc Id: XM_054374918   ⟹   XP_054230893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,825,455 (+)NCBI
RefSeq Acc Id: XM_054374919   ⟹   XP_054230894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,163 - 74,829,671 (+)NCBI
RefSeq Acc Id: XM_054374920   ⟹   XP_054230895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,825,053 (+)NCBI
RefSeq Acc Id: XM_054374921   ⟹   XP_054230896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,829,671 (+)NCBI
RefSeq Acc Id: XM_054374922   ⟹   XP_054230897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,825,441 (+)NCBI
RefSeq Acc Id: XM_054374923   ⟹   XP_054230898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01374,773,452 - 74,825,053 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001257881 (Get FASTA)   NCBI Sequence Viewer  
  NP_005993 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533514 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533515 (Get FASTA)   NCBI Sequence Viewer  
  XP_011533516 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876214 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876215 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876216 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286538 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286539 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230891 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230892 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230893 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230894 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230895 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230896 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230897 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230898 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36791 (Get FASTA)   NCBI Sequence Viewer  
  AAH18125 (Get FASTA)   NCBI Sequence Viewer  
  AAV38166 (Get FASTA)   NCBI Sequence Viewer  
  AEE61131 (Get FASTA)   NCBI Sequence Viewer  
  BAG36417 (Get FASTA)   NCBI Sequence Viewer  
  CAG33136 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43343 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43344 (Get FASTA)   NCBI Sequence Viewer  
  EAW80542 (Get FASTA)   NCBI Sequence Viewer  
  EAW80543 (Get FASTA)   NCBI Sequence Viewer  
  EAW80544 (Get FASTA)   NCBI Sequence Viewer  
  EAW80545 (Get FASTA)   NCBI Sequence Viewer  
  EAW80546 (Get FASTA)   NCBI Sequence Viewer  
  EAW80547 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366819
  ENSP00000366819.3
  ENSP00000398189
  ENSP00000398189.1
GenBank Protein P15374 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005993   ⟸   NM_006002
- Peptide Label: isoform 2
- UniProtKB: Q5TBK8 (UniProtKB/Swiss-Prot),   B2R970 (UniProtKB/Swiss-Prot),   Q6IBE9 (UniProtKB/Swiss-Prot),   P15374 (UniProtKB/Swiss-Prot),   A0A140VJZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257881   ⟸   NM_001270952
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: XP_011533516   ⟸   XM_011535214
- Peptide Label: isoform X4
- UniProtKB: Q5TBK7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533514   ⟸   XM_011535212
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011533515   ⟸   XM_011535213
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016876214   ⟸   XM_017020725
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016876215   ⟸   XM_017020726
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016876216   ⟸   XM_017020727
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000366819   ⟸   ENST00000377595
RefSeq Acc Id: ENSP00000398189   ⟸   ENST00000419068
RefSeq Acc Id: ENSP00000477746   ⟸   ENST00000618773
RefSeq Acc Id: XP_047286538   ⟸   XM_047430582
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047286539   ⟸   XM_047430583
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054230894   ⟸   XM_054374919
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230891   ⟸   XM_054374916
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230892   ⟸   XM_054374917
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230896   ⟸   XM_054374921
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054230893   ⟸   XM_054374918
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230897   ⟸   XM_054374922
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054230895   ⟸   XM_054374920
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054230898   ⟸   XM_054374923
- Peptide Label: isoform X8
Protein Domains
Ubiquitin carboxyl-terminal hydrolase family

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P15374-F1-model_v2 AlphaFold P15374 1-230 view protein structure

Promoters
RGD ID:6791207
Promoter ID:HG_KWN:18119
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:ENST00000377589,   OTTHUMT00000045292,   OTTHUMT00000045293,   OTTHUMT00000323441,   OTTHUMT00000323442
Position:
Human AssemblyChrPosition (strand)Source
Build 361375,021,516 - 75,022,222 (+)MPROMDB
RGD ID:7226597
Promoter ID:EPDNEW_H19044
Type:initiation region
Name:UCHL3_2
Description:ubiquitin C-terminal hydrolase L3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19045  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,506 - 75,549,566EPDNEW
RGD ID:7226599
Promoter ID:EPDNEW_H19045
Type:initiation region
Name:UCHL3_1
Description:ubiquitin C-terminal hydrolase L3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19044  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,791 - 75,549,851EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12515 AgrOrtholog
COSMIC UCHL3 COSMIC
Ensembl Genes ENSG00000118939 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377595 ENTREZGENE
  ENST00000377595.8 UniProtKB/Swiss-Prot
  ENST00000419068 ENTREZGENE
  ENST00000419068.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.532.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin carboxyl-terminal hydrolase, domain 1 UniProtKB/TrEMBL
  Ubiquitin carboxyl-terminal hydrolase, domain 2 UniProtKB/TrEMBL
GTEx ENSG00000118939 GTEx
HGNC ID HGNC:12515 ENTREZGENE
Human Proteome Map UCHL3 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7347 ENTREZGENE
OMIM 603090 OMIM
PANTHER PTHR10589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE ISOZYME L3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_C12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37162 PharmGKB
PRINTS UBCTHYDRLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE UCH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJZ4 ENTREZGENE, UniProtKB/TrEMBL
  B2R970 ENTREZGENE
  L8E899_HUMAN UniProtKB/TrEMBL
  L8EAH4_HUMAN UniProtKB/TrEMBL
  P15374 ENTREZGENE
  Q5TBK7 ENTREZGENE, UniProtKB/TrEMBL
  Q5TBK8 ENTREZGENE
  Q6IBE9 ENTREZGENE
  UCHL3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R970 UniProtKB/Swiss-Prot
  Q5TBK8 UniProtKB/Swiss-Prot
  Q6IBE9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 UCHL3  ubiquitin C-terminal hydrolase L3    ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)  Symbol and/or name change 5135510 APPROVED
2012-08-21 UCHL3  ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)  UCHL3  ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)  Symbol and/or name change 5135510 APPROVED