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ACVR1B activin A receptor type 1B [ Homo sapiens (human) ]

Gene ID: 91, updated on 21-Apr-2019

Summary

Official Symbol
ACVR1Bprovided by HGNC
Official Full Name
activin A receptor type 1Bprovided by HGNC
Primary source
HGNC:HGNC:172
See related
Ensembl:ENSG00000135503 MIM:601300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALK4; SKR2; ACTRIB; ACVRLK4
Summary
This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in kidney (RPKM 15.7), colon (RPKM 11.9) and 25 other tissues See more
Orthologs

Genomic context

See ACVR1B in Genome Data Viewer
Location:
12q13.13
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (51951667..51997079)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52345451..52390863)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene filamin-B-like Neighboring gene activin A receptor like type 1 Neighboring gene RNA, U6 small nuclear 574, pseudogene Neighboring gene GRASP antisense RNA 1 Neighboring gene general receptor for phosphoinositides 1 associated scaffold protein Neighboring gene nuclear receptor subfamily 4 group A member 1 Neighboring gene uncharacterized LOC107984510

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activin signaling, organism-specific biosystem (from KEGG)
    Activin signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Activin signaling, conserved biosystem (from KEGG)
    Activin signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Regulation of signaling by NODAL, organism-specific biosystem (from REACTOME)
    Regulation of signaling by NODAL, organism-specific biosystemMature NODAL can form heterodimers with LEFTY1, LEFTY2, or CERBERUS. The heterodimers do not activate the NODAL receptor. LEFTY1 and LEFTY2 also bind CRIPTO and CRYPTIC coreceptors and prevent them f...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Activin, organism-specific biosystem (from REACTOME)
    Signaling by Activin, organism-specific biosystemActivin was initially discovered as an activator of follicle stimulating hormone in the pituitary gland. It has since been shown to be an important participant in the differentiation of embryonic cel...
  • Signaling by NODAL, organism-specific biosystem (from REACTOME)
    Signaling by NODAL, organism-specific biosystemSignaling by NODAL is essential for patterning of the axes of the embryo and formation of mesoderm and endoderm (reviewed in Schier 2009, Shen 2007). The NODAL proprotein is secreted and cleaved extr...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to activin binding IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor activity, type I IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor activity, type I TAS
Traceable Author Statement
more info
PubMed 
contributes_to activin-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to growth factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
inhibin binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
 
transmembrane receptor protein serine/threonine kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
ubiquitin protein ligase binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
central nervous system development IEA
Inferred from Electronic Annotation
more info
 
development of primary female sexual characteristics IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
nodal signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of erythrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of trophoblast cell migration IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein serine/threonine kinase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
activin receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
activin receptor type-1B
Names
activin A receptor, type IB
activin A receptor, type II-like kinase 4
activin receptor-like kinase 4
serine/threonine-protein kinase receptor R2
NP_004293.1
NP_064732.3
NP_064733.3
XP_011537268.1
XP_011537269.1
XP_016875690.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_022926.1 RefSeqGene

    Range
    5001..50413
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004302.5NP_004293.1  activin receptor type-1B isoform a precursor

    See identical proteins and their annotated locations for NP_004293.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (a).
    Source sequence(s)
    AC025259, BC000254
    Consensus CDS
    CCDS8816.1
    UniProtKB/Swiss-Prot
    P36896
    Related
    ENSP00000257963.4, ENST00000257963.9
    Conserved Domains (3) summary
    cd14143
    Location:211498
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:32105
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178205
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_020327.3NP_064732.3  activin receptor type-1B isoform b

    See identical proteins and their annotated locations for NP_064732.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC025259, AK299496
    Consensus CDS
    CCDS44893.2
    UniProtKB/Swiss-Prot
    P36896
    Related
    ENSP00000442885.1, ENST00000542485.1
    Conserved Domains (3) summary
    cd14143
    Location:159446
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:653
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:126153
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_020328.3NP_064733.3  activin receptor type-1B isoform c precursor

    See identical proteins and their annotated locations for NP_064733.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is longer than isoform a.
    Source sequence(s)
    AC025259, AK299120, BC000254
    Consensus CDS
    CCDS44894.2
    UniProtKB/Swiss-Prot
    P36896
    Related
    ENSP00000442656.1, ENST00000541224.5
    Conserved Domains (3) summary
    cd14143
    Location:211539
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam01064
    Location:32105
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178205
    TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    51951667..51997079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020201.2XP_016875690.1  activin receptor type-1B isoform X2

    Related
    ENSP00000390477.2, ENST00000426655.6
  2. XM_011538966.3XP_011537268.1  activin receptor type-1B isoform X1

    Conserved Domains (3) summary
    pfam01064
    Location:32109
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178205
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
    cl21453
    Location:211420
    PKc_like; Protein Kinases, catalytic domain
  3. XM_011538967.3XP_011537269.1  activin receptor type-1B isoform X3

    Conserved Domains (3) summary
    pfam01064
    Location:32109
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:178205
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
    cl21453
    Location:211270
    PKc_like; Protein Kinases, catalytic domain
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