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FLASH GENE
Symbol ACVR1B contributors: - updated : 04-01-2006
HGNC name activin A receptor, type IB
HGNC id 172
Location 12q13      Physical location : 52.345.450 - 52.390.863
Synonym name activin A receptor-like kinase 4
Synonym symbol(s) ACVRLK4, ALK4, ARLK4, SKR2
EC.number 2.7.1.37
DNA
TYPE functioning gene
STRUCTURE 35.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
SCN8A 12q13 sodium channel, voltage gated, type VIII, alpha FLJ33996 12q13.13 hypothetical protein FLJ33996 DKFZp686O1689 12q13.13 hypothetical protein DKFZp686O1689 ACVRL1 12q13 activin A receptor type II-like 1 ACVR1B 12q13 activin A receptor, type IB GRASP 12q13.13 GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein NR4A1 12q13 nuclear receptor subfamily 4, group A, member 1 FLJ11773 12q13.13 hypothetical protein FLJ11773 OR7E47P 12q13.13 olfactory receptor, family 7, subfamily E, member 47 pseudogene LOC144501 12q13.13 hypothetical protein LOC144501 LOC283403 12q13.13 hypothetical protein LOC283403 KRT7 12q13 keratin 7 KRTHBP4 12q13 keratin, hair, basic, pseudogene 4 KRTHBP3 12q13 keratin, hair, basic, pseudogene 3 LOC387859 12 LOC387859 KRTHB1 12q13 keratin, hair, basic, 1 KRTHB6 12q13 keratin, hair, basic, 6 (monilethrix) KRTHB3 12q13 keratin, hair, basic, 3 KRTHBP2 12q13 keratin, hair, basic, pseudogene 2 KRTHB5 12q13 keratin, hair, basic, 5
RNA
TRANSCRIPTS type messenger
text polyA addition to alternative exons 8a/8b, 9a/9b, 10a/10b at each of three C terminal coding exon-intron junctions
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 2372 56.8 505 - Xu
exons 7, 8a, 9a, 10a, 11
- splicing polyA site 1781 53.5 476 - Xu
exons 7, 8a, 9a, 10b
- splicing polyA site 1705 54.8 487 - Xu
exons 7, 8a, 9b
- splicing polyA site - - - - Xu
exons 7 + 8b
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Endocrinepancreas    
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a small cysteine-rich extracellular region, with five hydrophobic amino acid residues
  • a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
  • a cytoplasmic serine/threonine kinase domain
  • a functional binding site for activin
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , receptor membrane serine/threonine kinase
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 membrane protein
    basic FUNCTION
  • transmembrane receptor involved in protein serine / threonine kinase signaling pathway
  • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    transducing signals from NODAL
    a component
  • heterodimerization of alternative variants with type II receptor (forming a stable complex after ligand binding)
  • complexing with AIP1, ACVR2, ACVR1B and MADH3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein activating MADH2, MADH4, FOXH1
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in pancreatic carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS