ENSG00000135503


Homo sapiens

Features
Gene ID: ENSG00000135503
  
Biological name :ACVR1B
  
Synonyms : activin A receptor type 1B / ACVR1B / P36896
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.13
Gene start: 51951667
Gene end: 51997078
  
Corresponding Affymetrix probe sets: 205209_at (Human Genome U133 Plus 2.0 Array)   208218_s_at (Human Genome U133 Plus 2.0 Array)   208219_at (Human Genome U133 Plus 2.0 Array)   208222_at (Human Genome U133 Plus 2.0 Array)   208223_s_at (Human Genome U133 Plus 2.0 Array)   213198_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000443218
Ensembl peptide - ENSP00000442656
Ensembl peptide - ENSP00000442885
Ensembl peptide - ENSP00000257963
Ensembl peptide - ENSP00000390477
Ensembl peptide - ENSP00000397550
NCBI entrez gene - 91     See in Manteia.
OMIM - 601300
RefSeq - XM_017020201
RefSeq - NM_004302
RefSeq - NM_020327
RefSeq - NM_020328
RefSeq - XM_011538966
RefSeq - XM_017020199
RefSeq - XM_017020200
RefSeq Peptide - NP_004293
RefSeq Peptide - NP_064732
RefSeq Peptide - NP_064733
swissprot - P36896
swissprot - F5H5Q2
Ensembl - ENSG00000135503
  
Related genetic diseases (OMIM): 601300 - Pancreatic cancer, somatic
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acvr1baENSDARG00000018968Danio rerio
 acvr1bbENSDARG00000052142Danio rerio
 ACVR1BENSGALG00000029599Gallus gallus
 Acvr1bENSMUSG00000000532Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P36897 / TGFBR1 / transforming growth factor beta receptor 1ENSG0000010679963
ACVR1C / Q8NER5 / activin A receptor type 1CENSG0000012361258
BMPR1B / O00238 / bone morphogenetic protein receptor type 1BENSG0000013869646
BMPR1A / P36894 / bone morphogenetic protein receptor type 1AENSG0000010777945
ACVR1 / Q04771 / activin A receptor type 1ENSG0000011517045
ACVRL1 / P37023 / activin A receptor like type 1ENSG0000013956743
ACVR2B / Q13705 / activin A receptor type 2BENSG0000011473927
P37173 / TGFBR2 / transforming growth factor beta receptor 2ENSG0000016351326
ACVR2A / P27037 / activin A receptor type 2AENSG0000012198926
BMPR2 / Q13873 / bone morphogenetic protein receptor type 2ENSG0000020421725
AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2ENSG0000013540924


Protein motifs (from Interpro)
Interpro ID Name
 IPR000333  Ser/Thr protein kinase, TGFB receptor
 IPR000472  Activin types I and II receptor domain
 IPR000719  Protein kinase domain
 IPR003605  GS domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR017441  Protein kinase, ATP binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000082 G1/S transition of mitotic cell cycle IDA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001942 hair follicle development IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IDA
 biological_processGO:0006468 protein phosphorylation IDA
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway TAS
 biological_processGO:0007417 central nervous system development IEA
 biological_processGO:0009966 regulation of signal transduction IEA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IDA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030308 negative regulation of cell growth IDA
 biological_processGO:0032924 activin receptor signaling pathway IDA
 biological_processGO:0032927 positive regulation of activin receptor signaling pathway IDA
 biological_processGO:0038092 nodal signaling pathway IGI
 biological_processGO:0045648 positive regulation of erythrocyte differentiation IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046545 development of primary female sexual characteristics IEA
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0097191 extrinsic apoptotic signaling pathway IMP
 biological_processGO:1901165 positive regulation of trophoblast cell migration IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043235 receptor complex IDA
 cellular_componentGO:0048179 activin receptor complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IDA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016361 activin receptor activity, type I IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017002 activin-activated receptor activity IDA
 molecular_functionGO:0019838 growth factor binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding NAS
 molecular_functionGO:0034711 inhibin binding IPI
 molecular_functionGO:0046332 SMAD binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048185 activin binding IDA


Pathways (from Reactome)
Pathway description
Signaling by NODAL
Regulation of signaling by NODAL
Signaling by Activin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121989 ACVR2A / P27037 / activin A receptor type 2A  / reaction / complex
 ENSG00000122641 INHBA / P08476 / inhibin beta A subunit  / complex / reaction
 ENSG00000156574 NODAL / Q96S42 / nodal growth differentiation factor  / reaction / complex
 ENSG00000135503 ACVR1B / P36896 / activin A receptor type 1B  / reaction / complex
 ENSG00000175387 SMAD2 / Q15796 / SMAD family member 2  / reaction
 ENSG00000166949 SMAD3 / P84022 / SMAD family member 3  / reaction
 ENSG00000136698 CFC1 / P0CG37 / cripto, FRL-1, cryptic family 1  / complex
 ENSG00000241186 TDGF1 / P13385 / teratocarcinoma-derived growth factor 1  / complex
 ENSG00000130283 GDF1 / P27539 / growth differentiation factor 1  / complex / reaction
 ENSG00000163083 INHBB / P09529 / inhibin beta B subunit  / reaction / complex
 ENSG00000243709 LEFTY1 / O75610 / left-right determination factor 1  / complex / reaction
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / reaction / complex
 ENSG00000143768 LEFTY2 / O00292 / left-right determination factor 2  / complex / reaction






 

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