ENSG00000123612


Homo sapiens

Features
Gene ID: ENSG00000123612
  
Biological name :ACVR1C
  
Synonyms : activin A receptor type 1C / ACVR1C / Q8NER5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q24.1
Gene start: 157526767
Gene end: 157629005
  
Corresponding Affymetrix probe sets: 1552519_at (Human Genome U133 Plus 2.0 Array)   1563182_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000243349
Ensembl peptide - ENSP00000335139
Ensembl peptide - ENSP00000335178
Ensembl peptide - ENSP00000387168
NCBI entrez gene - 130399     See in Manteia.
OMIM - 608981
RefSeq - NM_001111032
RefSeq - NM_001111031
RefSeq - NM_001111033
RefSeq - NM_145259
RefSeq Peptide - NP_001104501
RefSeq Peptide - NP_001104502
RefSeq Peptide - NP_001104503
RefSeq Peptide - NP_660302
swissprot - Q8NER5
Ensembl - ENSG00000123612
  
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
 ACVR1CENSDARG00000086172Danio rerio
 ACVR1CENSGALG00000041257Gallus gallus
 Acvr1cENSMUSG00000026834Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P36897 / TGFBR1 / transforming growth factor beta receptor 1ENSG0000010679968
ACVR1B / P36896 / activin A receptor type 1BENSG0000013550365
BMPR1B / O00238 / bone morphogenetic protein receptor type 1BENSG0000013869650
BMPR1A / P36894 / bone morphogenetic protein receptor type 1AENSG0000010777950
ACVR1 / Q04771 / activin A receptor type 1ENSG0000011517049
ACVRL1 / P37023 / activin A receptor like type 1ENSG0000013956747
ACVR2B / Q13705 / activin A receptor type 2BENSG0000011473931
P37173 / TGFBR2 / transforming growth factor beta receptor 2ENSG0000016351331
ACVR2A / P27037 / activin A receptor type 2AENSG0000012198930
BMPR2 / Q13873 / bone morphogenetic protein receptor type 2ENSG0000020421728
AMHR2 / Q16671 / anti-Mullerian hormone receptor type 2ENSG0000013540926


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
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic 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:0002021 response to dietary excess IEA
 biological_processGO:0006468 protein phosphorylation IC
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0019915 lipid storage IEA
 biological_processGO:0023014 signal transduction by protein phosphorylation IEA
 biological_processGO:0030154 cell differentiation IDA
 biological_processGO:0030262 apoptotic nuclear changes IDA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0038092 nodal signaling pathway IMP
 biological_processGO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
 biological_processGO:0046676 negative regulation of insulin secretion IEA
 biological_processGO:1901164 negative regulation of trophoblast cell migration IDA
 biological_processGO:1901383 negative regulation of chorionic trophoblast cell proliferation IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0048179 activin receptor complex IDA
 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 IEA
 molecular_functionGO:0004702 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016361 activin receptor activity, type I IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding IPI
 molecular_functionGO:0038100 nodal binding IMP
 molecular_functionGO:0046872 metal ion binding IEA


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  / complex / reaction
 ENSG00000122641 INHBA / P08476 / inhibin beta A subunit  / reaction / complex
 ENSG00000130283 GDF1 / P27539 / growth differentiation factor 1  / complex / reaction
 ENSG00000136698 CFC1 / P0CG37 / cripto, FRL-1, cryptic family 1  / complex
 ENSG00000114739 ACVR2B / Q13705 / activin A receptor type 2B  / complex / reaction
 ENSG00000163083 INHBB / P09529 / inhibin beta B subunit  / complex / reaction
 ENSG00000123612 ACVR1C / Q8NER5 / activin A receptor type 1C  / reaction / complex
 ENSG00000241186 TDGF1 / P13385 / teratocarcinoma-derived growth factor 1  / complex
 ENSG00000156574 NODAL / Q96S42 / nodal growth differentiation factor  / reaction / complex
 ENSG00000166949 SMAD3 / P84022 / SMAD family member 3  / reaction
 ENSG00000175387 SMAD2 / Q15796 / SMAD family member 2  / reaction
 ENSG00000243709 LEFTY1 / O75610 / left-right determination factor 1  / complex / reaction
 ENSG00000143768 LEFTY2 / O00292 / left-right determination factor 2  / complex / reaction






 

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