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
Description: Exhibits thiol-dependent ubiquitin-specific protease activity and ubiquitin binding activity. Involved in protein catabolic process and protein deubiquitination. Localizes to cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
GRCh38.p13 Ensembl1375,549,480 - 75,606,020 (+)EnsemblGRCh38hg38GRCh38
GRCh381375,549,490 - 75,606,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371376,123,638 - 76,180,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361375,021,928 - 75,078,070 (+)NCBINCBI36hg18NCBI36
Build 341375,021,927 - 75,078,067NCBI
Celera1357,021,803 - 57,077,943 (+)NCBI
Cytogenetic Map13q22.2NCBI
HuRef1356,821,075 - 56,877,308 (+)NCBIHuRef
CHM1_11376,091,356 - 76,147,870 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

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

Molecular Function

References

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: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: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:32203420   PMID:32416067   PMID:32738097   PMID:32814053  


Genomics

Comparative Map Data
UCHL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1375,549,480 - 75,606,020 (+)EnsemblGRCh38hg38GRCh38
GRCh381375,549,490 - 75,606,020 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371376,123,638 - 76,180,156 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361375,021,928 - 75,078,070 (+)NCBINCBI36hg18NCBI36
Build 341375,021,927 - 75,078,067NCBI
Celera1357,021,803 - 57,077,943 (+)NCBI
Cytogenetic Map13q22.2NCBI
HuRef1356,821,075 - 56,877,308 (+)NCBIHuRef
CHM1_11376,091,356 - 76,147,870 (+)NCBICHM1_1
Uchl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914101,891,387 - 101,933,561 (+)NCBIGRCm39mm39
GRCm39 Ensembl14101,891,403 - 101,933,561 (+)Ensembl
GRCm3814101,653,892 - 101,696,125 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14101,653,967 - 101,696,125 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714102,053,184 - 102,095,342 (+)NCBIGRCm37mm9NCBIm37
MGSCv3614100,540,246 - 100,582,053 (+)NCBImm8
Celera14100,293,249 - 100,335,409 (+)NCBICelera
Cytogenetic Map14E2.3NCBI
cM Map1450.9NCBI
Uchl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21578,485,304 - 78,527,355 (+)NCBI
Rnor_6.0 Ensembl1586,153,628 - 86,198,127 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01586,153,624 - 86,198,127 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01589,919,728 - 89,964,227 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41585,628,490 - 85,670,420 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11375,549,305 - 75,878,805 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1375,549,647 - 75,878,673 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01356,776,436 - 56,832,539 (+)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.02229,625,506 - 29,732,716 (+)NCBI
UMICH_Zoey_3.12229,276,538 - 29,383,650 (+)NCBI
UNSW_CanFamBas_1.02229,320,217 - 29,427,245 (+)NCBI
UU_Cfam_GSD_1.02229,388,463 - 29,495,905 (+)NCBI
Uchl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024404945130,107,193 - 130,163,980 (-)NCBI
SpeTri2.0NW_0049365115,524,425 - 5,581,156 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCHL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1147,829,103 - 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 - African green monkey)
No map positions available.
Uchl3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475124,882,580 - 24,940,301 (-)NCBI

Position Markers
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

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.


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
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
  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
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1375,549,791 - 75,605,933 (+)Ensembl
RefSeq Acc Id: ENST00000419068   ⟹   ENSP00000398189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1375,566,710 - 75,605,949 (+)Ensembl
RefSeq Acc Id: ENST00000471792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1375,549,483 - 75,594,990 (+)Ensembl
RefSeq Acc Id: ENST00000606347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1375,569,123 - 75,605,930 (+)Ensembl
RefSeq Acc Id: ENST00000607339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1375,604,527 - 75,605,933 (+)Ensembl
RefSeq Acc Id: ENST00000618773   ⟹   ENSP00000477746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
Sequence:
RefSeq Acc Id: XM_011535212   ⟹   XP_011533514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,750 - 75,605,944 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535213   ⟹   XP_011533515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,757 - 75,605,944 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535214   ⟹   XP_011533516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,490 - 75,605,944 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020725   ⟹   XP_016876214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,750 - 75,601,805 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020726   ⟹   XP_016876215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,750 - 75,598,410 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020727   ⟹   XP_016876216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381375,549,763 - 75,605,944 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005993   ⟸   NM_006002
- Peptide Label: isoform 2
- UniProtKB: P15374 (UniProtKB/Swiss-Prot),   A0A140VJZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257881   ⟸   NM_001270952
- Peptide Label: isoform 1
- UniProtKB: P15374 (UniProtKB/Swiss-Prot),   A0A087WTB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533516   ⟸   XM_011535214
- Peptide Label: isoform X4
- 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
Protein Domains
UCH_1

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

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
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 13q partial monosomy 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

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 Protein ENSP00000366819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398189 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000477746 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419068 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000618773 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 3.40.532.10 UniProtKB/Swiss-Prot, 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
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 A0A087WTB8 ENTREZGENE, UniProtKB/TrEMBL
  A0A140VJZ4 ENTREZGENE, UniProtKB/TrEMBL
  L8E899_HUMAN UniProtKB/TrEMBL
  L8EAH4_HUMAN UniProtKB/TrEMBL
  P15374 ENTREZGENE
  Q5TBK7_HUMAN UniProtKB/TrEMBL
  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