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UBASH3A ubiquitin associated and SH3 domain containing A [ Homo sapiens (human) ]

Gene ID: 53347, updated on 11-Jun-2021

Summary

Official Symbol
UBASH3Aprovided by HGNC
Official Full Name
ubiquitin associated and SH3 domain containing Aprovided by HGNC
Primary source
HGNC:HGNC:12462
See related
Ensembl:ENSG00000160185 MIM:605736
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TULA; CLIP4; STS-2; TULA-1
Summary
This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Expression
Biased expression in lymph node (RPKM 3.3), appendix (RPKM 1.9) and 12 other tissues See more
Orthologs
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Genomic context

See UBASH3A in Genome Data Viewer
Location:
21q22.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (42403880..42447684)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43824011..43867794)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372815 Neighboring gene trefoil factor 1 Neighboring gene transmembrane serine protease 3 Neighboring gene RNA, U6 small nuclear 1149, pseudogene Neighboring gene radial spoke head component 1 Neighboring gene RSPH1 divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
GeneReviews: Not available
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
GeneReviews: Not available
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ubiquitin associated and SH3 domain containing A (UBASH3A) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Expression of TULA proteins reduces the production of HIV-1 particles and modulates Gag processing. ABCE1 recruits TULA to Gag PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in negative regulation of T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol HDA PubMed 
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ubiquitin-associated and SH3 domain-containing protein A
Names
T-cell ubiquitin ligand 1
T-cell ubiquitin ligand protein
cbl-interacting protein 4
suppressor of T-cell receptor signaling 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029750.2 RefSeqGene

    Range
    5041..48823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001895.3NP_001001895.1  ubiquitin-associated and SH3 domain-containing protein A isoform 2

    See identical proteins and their annotated locations for NP_001001895.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (2, also known as short form) that is shorter than isoform 1.
    Source sequence(s)
    AA707211, AF521702, AJ277750, AP001624, DA926085
    Consensus CDS
    CCDS33566.1
    UniProtKB/Swiss-Prot
    P57075
    Related
    ENSP00000291535.6, ENST00000291535.11
    Conserved Domains (4) summary
    cd11937
    Location:241300
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    cd14300
    Location:2561
    UBA_UBS3A_like; UBA domain found in ubiquitin-associated and SH3 domain-containing protein A (UBS3A) and similar proteins
    pfam00300
    Location:412574
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:332464
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  2. NM_001243467.2NP_001230396.1  ubiquitin-associated and SH3 domain-containing protein A isoform 3

    See identical proteins and their annotated locations for NP_001230396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, and two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA707211, AJ277750, AP001624, BC069577, DA926085
    Consensus CDS
    CCDS58791.1
    UniProtKB/Swiss-Prot
    P57075
    Related
    ENSP00000381408.1, ENST00000398367.1
    Conserved Domains (3) summary
    cd07067
    Location:360475
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
    cd11937
    Location:241300
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    cd14300
    Location:2561
    UBA_UBS3A_like; UBA domain found in ubiquitin-associated and SH3 domain-containing protein A (UBS3A) and similar proteins
  3. NM_018961.4NP_061834.1  ubiquitin-associated and SH3 domain-containing protein A isoform 1

    See identical proteins and their annotated locations for NP_061834.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as long form).
    Source sequence(s)
    AA707211, AJ277750, AP001624, DA926085
    Consensus CDS
    CCDS13687.1
    UniProtKB/Swiss-Prot
    P57075
    Related
    ENSP00000317327.6, ENST00000319294.11
    Conserved Domains (4) summary
    cd11937
    Location:279338
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    cd14300
    Location:2561
    UBA_UBS3A_like; UBA domain found in ubiquitin-associated and SH3 domain-containing protein A (UBS3A) and similar proteins
    pfam00300
    Location:450612
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:370502
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    42403880..42447684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529606.3XP_011527908.1  ubiquitin-associated and SH3 domain-containing protein A isoform X3

    See identical proteins and their annotated locations for XP_011527908.1

    Conserved Domains (3) summary
    cd11937
    Location:144203
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    pfam00300
    Location:315477
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:235367
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  2. XM_011529605.3XP_011527907.1  ubiquitin-associated and SH3 domain-containing protein A isoform X2

    Conserved Domains (3) summary
    cd07067
    Location:398513
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
    cd11937
    Location:279338
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    cd14300
    Location:2561
    UBA_UBS3A_like; UBA domain found in ubiquitin-associated and SH3 domain-containing protein A (UBS3A) and similar proteins
  3. XM_011529609.2XP_011527911.1  ubiquitin-associated and SH3 domain-containing protein A isoform X4

    See identical proteins and their annotated locations for XP_011527911.1

    Related
    ENSP00000489235.1, ENST00000473381.1
    Conserved Domains (3) summary
    cd07067
    Location:398496
    HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
    cd11937
    Location:279338
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    cd14300
    Location:2561
    UBA_UBS3A_like; UBA domain found in ubiquitin-associated and SH3 domain-containing protein A (UBS3A) and similar proteins
  4. XM_006724013.3XP_006724076.1  ubiquitin-associated and SH3 domain-containing protein A isoform X1

    Conserved Domains (4) summary
    cd11937
    Location:260319
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    pfam00300
    Location:431593
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:351483
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
    cl21463
    Location:1442
    UBA_like_SF; UBA domain-like superfamily
  5. XM_011529607.2XP_011527909.1  ubiquitin-associated and SH3 domain-containing protein A isoform X3

    See identical proteins and their annotated locations for XP_011527909.1

    Conserved Domains (3) summary
    cd11937
    Location:144203
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    pfam00300
    Location:315477
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:235367
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
  6. XM_011529610.2XP_011527912.1  ubiquitin-associated and SH3 domain-containing protein A isoform X5

    Conserved Domains (3) summary
    cd11937
    Location:766
    SH3_UBASH3A; Src homology 3 domain of Ubiquitin-associated and SH3 domain-containing protein A
    pfam00300
    Location:178340
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
    cl11399
    Location:98230
    HP; Histidine phosphatase domain found in a functionally diverse set of proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction

RNA

  1. XR_244316.2 RNA Sequence

    Related
    ENST00000635325.1
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