Gene Gene information from NCBI Gene database.
Entrez ID 10454
Gene name TGF-beta activated kinase 1 (MAP3K7) binding protein 1
Gene symbol TAB1
Synonyms (NCBI Gene)
3'-Tab1MAP3K7IP1
Chromosome 22
Chromosome location 22q13.1
Summary The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein inter
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT047792 hsa-miR-30d-5p CLASH 23622248
MIRT054555 hsa-miR-26b-5p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 24565101
MIRT054555 hsa-miR-26b-5p ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot 24565101
MIRT652878 hsa-miR-483-3p HITS-CLIP 23824327
MIRT652878 hsa-miR-483-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0003007 Process Heart morphogenesis IEA
GO:0003279 Process Cardiac septum development IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602615 18157 ENSG00000100324
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15750
Protein name TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 (Mitogen-activated protein kinase kinase kinase 7-interacting protein 1) (TGF-beta-activated kinase 1-binding protein 1) (TAK1-binding protein 1)
Protein function Key adapter protein that plays an essential role in JNK and NF-kappa-B activation and proinflammatory cytokines production in response to stimulation with TLRs and cytokines (PubMed:22307082, PubMed:24403530). Mechanistically, associates with th
PDB 2J4O , 2POM , 2POP , 2YDS , 2YIY , 4AY5 , 4AY6 , 4GS6 , 4KA3 , 4L3P , 4L52 , 4L53 , 4O91 , 5DIY , 5E7R , 5GJD , 5GJF , 5GJG , 5J7S , 5J8I , 5J9L , 5JGA , 5JGB , 5JGD , 5JH6 , 5JK3 , 5NZZ , 5O90 , 5V5N , 5VVU , 7NTH , 7NTI , 8GW3 , 8XI8 , 9FPD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00481 PP2C 69 334 Protein phosphatase 2C Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12429732}.
Sequence
MAAQRRSLLQSEQQPSWTDDLPLCHLSGVGSASNRSYSADGKGTESHPPEDSWLKFRSEN
NCFLYGVFNGYDGNRVTNFVAQRLSAELLLGQLNAEHAEADVRRVLLQAFDVVERSFLES
IDDALAEKASLQSQLPEGVPQHQLPPQYQKILERLKTLEREISGGAMAVVAVLLNNKLYV
ANVGTNRALLCKSTVDGLQVTQLNVDHTTENEDELFRLSQLGLDAGKIKQVGIICGQEST
RRIGDYKVKYGYTDIDLLSAAKSKPIIAEPEIHGAQPLDGVTGFLVLMSEGLYKALEAAH
GPGQANQEIAAMIDTEFAKQTSLDAVAQAVVDRV
KRIHSDTFASGGERARFCPRHEDMTL
LVRNFGYPLGEMSQPTPSPAPAAGGRVYPVSVPYSSAQSTSKTSVTLSLVMPSQGQMVNG
AHSASTLDEATPTLTNQSPTLTLQSTNTHTQSSSSSSDGGLFRSRPAHSLPPGEDGRVEP
YVDFAEFYRLWSVDHGEQSVVTAP
Sequence length 504
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma BEFREE 19968634
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 28206956
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 12488458 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29328486 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 30135318
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 39445733 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 33902539 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 36609391 Associate
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 30645141
★☆☆☆☆
Found in Text Mining only
Hypercholesterolemia Hypercholesterolemia Pubtator 39445733 Associate
★☆☆☆☆
Found in Text Mining only