UBASH3A (ubiquitin associated and SH3 domain containing A)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53347
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin associated and SH3 domain containing A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UBASH3A
Synonyms (NCBI Gene) Gene synonyms aliases
CLIP4, STS-2, TULA, TULA-1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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, whic
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT2361048 hsa-miR-1207-3p CLIP-seq
MIRT2361049 hsa-miR-146b-3p CLIP-seq
MIRT2361050 hsa-miR-1914 CLIP-seq
MIRT2361051 hsa-miR-3173-5p CLIP-seq
MIRT2361052 hsa-miR-874 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0001817 Process Regulation of cytokine production IEA
GO:0005515 Function Protein binding IPI 21516116, 25416956, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605736 12462 ENSG00000160185
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P57075
Protein name Ubiquitin-associated and SH3 domain-containing protein A (Cbl-interacting protein 4) (CLIP4) (Suppressor of T-cell receptor signaling 2) (STS-2) (T-cell ubiquitin ligand 1) (TULA-1)
Protein function Interferes with CBL-mediated down-regulation and degradation of receptor-type tyrosine kinases. Promotes accumulation of activated target receptors, such as T-cell receptors, EGFR and PDGFRB, on the cell surface. Exhibits negligible protein tyro
PDB 2CRN , 5WDI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 283 → 337 Variant SH3 domain Domain
PF00300 His_Phos_1 439 → 638 Histidine phosphatase superfamily (branch 1) Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression of UBASH3A in tissues belonging to the immune system, including spleen, peripheral blood leukocytes, thymus and bone marrow. {ECO:0000269|PubMed:11281453, ECO:0000269|PubMed:15107835}.
Sequence 
MAAGETQLYAKVSNKLKSRSSPSLLEPLLAMGFPVHTALKALAATGRKTAEEALAWLHDH
CNDPSLDDPIPQEYALFLCPTGPLLEKLQEFWRESKRQCAKNRAHEVFPHVTLCDFFTCE
DQKVECLYEALKRAGDRLLGSFPTAVPLALHSSISYLGFFVSGSPADVIREFAMTFATEA
SLLAGTSVSRFWIFSQVPGHGPNLRLSNLTRASFVSHYILQKYCSVKPCTKQLHLTLAHK
FYPHHQRTLEQLARAIPLGHSCQWTAALYSRDMRFVHYQTLRALFQYKPQNVDELTLSPG
DYIFVDPTQQDEASEGWVIGISQRTGCRGFLPENYTDRASESDTWVKHRMYTFSLATDLN
SRKDGEASSRCSGEFLPQTARSLSSLQALQATVARKSVLVVRHGERVDQIFGKAWLQQCS
TPDGKYYRPDLNFPCSLPRRSRGIKDFENDPPLSSCGIFQSRIAGDALLDSGIRISSVFA
SPALRCVQTAKLILEELKLEKKIKIRVEPGIFEWTKWEAGKTTPTLMSLEELKEANFNID
TDYRPAFPLSALMPAESYQEYMDRCTASMVQIVNTCPQDTGVILIVSHGSTLDSCTRPLL
GLPPRECGDFAQLVRKIPSLGMCFCEENKEEGKWELVNPPVKTLTHGANAAFNWRNWISG
N
Sequence length 661
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Islet Cell Associate 22315323, 22776074
Arthritis Rheumatoid Associate 24532676, 30822156, 32117312
Autoimmune Diseases Associate 23565265, 28607106, 29491471, 30822156, 31659016
Cakut Associate 34502088
Cholangitis Sclerosing Associate 27992413
Diabetes Mellitus Associate 22315323, 22776074, 25075402
Diabetes Mellitus Type 1 Associate 18647951, 18840781, 19732865, 21829393, 22315323, 22776074, 24367383, 25075402, 28607106, 29491471, 30910956, 31659016, 37240014
Graves Disease Associate 21829393
Lupus Erythematosus Systemic Associate 23565265
Negative rheumatoid factor polyarthritis Associate 30822156