ACVR1B activin A receptor, type IB [Homo sapiens] - Gene

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Summary

Official Symbol: ACVR1Bprovided by HGNC
Official Full Name: activin A receptor, type IBprovided by HGNC
Primary source: HGNC:172
See related: Ensembl:ENSG00000135503; HPRD:03193; MIM:601300; Vega:OTTHUMG00000167920
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]

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Genomic context

Location :: 12q13

Sequence :: Chromosome: 12; NC_000012.11 (52345451..52390863)

See ACVR1B in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Inhibin alpha-subunit N terminus interacts with activin type IB receptor to disrupt activin signaling.
Title: Inhibin α-subunit N terminus interacts with activin type IB receptor to disrupt activin signaling.
Activin A-ACVRIB/ALK4-Smad-dependent collagen production was augmented in SSc fibroblasts, suggesting the involvement of this signaling mechanism in systemic sclerosis.
Title: Activation of the activin A-ALK-Smad pathway in systemic sclerosis.
We applied a two-stage fine mapping approach, and are the first to identify and partially replicate genetic variants in the ACVR1B gene that account for genetic variation in human muscle strength.
Title: Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
activin A signal is transduced through the activin A type 1 receptor, ALK4, and transactivates several TGF-beta target genes in a SMAD-independent manner.
Title: Activin A induces neuronal differentiation and survival via ALK4 in a SMAD-independent manner in a subpopulation of human neuroblastomas.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
Study indicate that the synthetic h-CFC interacts with the ALK4 receptor with a K(D) in micro M range, that the h-CFC overall topology is determined by the presence of three disulfide bridges.
Title: Structural insights into the interaction between the Cripto CFC domain and the ALK4 receptor.
a regulation mode of miR-24 on erythropoiesis by impeding ALK4 expression.
Title: MicroRNA miR-24 inhibits erythropoiesis by targeting activin type I receptor ALK4.
Dpr2 binds to the TGFbeta receptors ALK5 and ALK4, and accelerates lysosomal degradation of these receptors
Title: Zebrafish Dpr2 inhibits mesoderm induction by promoting degradation of nodal receptors.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P36896	P36896	ACVR1B	HPRD	PubMed
P36896	Q13705	ACVR2B	HPRD	PubMed
P36896	Immunoglobulin superfamily member 1	IGSF1	HPRD	PubMed
P36896	P08476	INHBA	HPRD	PubMed
P36896	P09529	INHBB	HPRD	PubMed
P36896	P55103	INHBC	HPRD	PubMed
P36896	Q15796	SMAD2	HPRD	PubMed
P36896	Q13485	SMAD4	HPRD	PubMed
P36896	O15105	SMAD7	HPRD	PubMed
P36896	Q13596	SNX1	HPRD	PubMed
P36896	O60749	SNX2	HPRD	PubMed
P36896	P13385	TDGF1	HPRD	PubMed
P36896	TGF beta receptor associated protein 1	TGFBRAP1	HPRD	PubMed
BioGRID:106606	BioGRID:106605	ACVR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:106607	ACVR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:106608	ACVR2B	BioGRID	PubMed	Affinity Capture-Western; Co-purification
BioGRID:106606	BioGRID:107127	BMPR2	BioGRID	PubMed	Two-hybrid
BioGRID:106606	BioGRID:108570	FKBP1A	BioGRID	PubMed	Affinity Capture-Western; PCA
BioGRID:106606	BioGRID:109763	IGSF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:109836	INHBA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:109837	INHBB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:116915	NEDD4L	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:106606	BioGRID:110262	SMAD2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:110263	SMAD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:110267	SMAD7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:121411	SMURF1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:112525	SNX1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:112526	SNX2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:201280	Smad7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:112856	TDGF1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106606	BioGRID:114374	TSC22D1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106606	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
	NP_001158.2	XIAP	BIND	PubMed	An unspecified isoform of ALK4 interacts with XIAP. This interaction was modeled on a demonstrated interaction between ALK4 from an unspecified species and human XIAP.

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
nucleotide 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
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta-activated receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
ubiquitin protein ligase binding	IPI Inferred from Physical Interaction 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
induction of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell growth	IDA Inferred from Direct Assay 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 activin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of erythrocyte differentiation	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-dependent	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	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell surface	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: activin receptor type-1B

Names: activin receptor type-1B; activin receptor-like kinase 4; activin A receptor, type II-like kinase 4; serine/threonine-protein kinase receptor R2

NP_004293.1

EC 2.7.11.30

NP_064732.3

EC 2.7.11.30

NP_064733.3

EC 2.7.11.30

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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

NG_022926.1 RefSeqGene

Range

5001..50413

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004302.4 → NP_004293.1 activin receptor type-1B isoform a precursor

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, OTTHUMP00000237285, ENST00000257963, OTTHUMT00000397000

Conserved Domains (5) summary

cd00180
Location:213 – 413
Blast Score: 345

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:32 – 109
Blast Score: 198

Activin_recp; Activin types I and II receptor domain

cl02621
Location:177 – 205
Blast Score: 101

TGF_beta_GS; Transforming growth factor beta type I GS-motif

pfam00069
Location:207 – 492
Blast Score: 401

Pkinase; Protein kinase domain

cl09925
Location:333 – 496
Blast Score: 105

PKc_like; Protein Kinases, catalytic domain
NM_020327.3 → NP_064732.3 activin receptor type-1B isoform b

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, OTTHUMP00000237289, ENST00000542485, OTTHUMT00000397005

Conserved Domains (5) summary

cd00180
Location:161 – 361
Blast Score: 340

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:1 – 57
Blast Score: 134

Activin_recp; Activin types I and II receptor domain

cl02621
Location:125 – 153
Blast Score: 102

TGF_beta_GS; Transforming growth factor beta type I GS-motif

pfam00069
Location:155 – 440
Blast Score: 395

Pkinase; Protein kinase domain

cl09925
Location:281 – 444
Blast Score: 105

PKc_like; Protein Kinases, catalytic domain
NM_020328.3 → NP_064733.3 activin receptor type-1B isoform c precursor

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, OTTHUMP00000237286, ENST00000541224, OTTHUMT00000397001

Conserved Domains (5) summary

cd00180
Location:213 – 454
Blast Score: 305

PKc; Catalytic domain of Protein Kinases

pfam01064
Location:32 – 109
Blast Score: 200

Activin_recp; Activin types I and II receptor domain

cl02621
Location:177 – 205
Blast Score: 101

TGF_beta_GS; Transforming growth factor beta type I GS-motif

pfam00069
Location:207 – 533
Blast Score: 357

Pkinase; Protein kinase domain

cl09925
Location:374 – 542
Blast Score: 122

PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

52345451..52390863

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

49378333..49424012

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC025259.49 (86641..132053)	None
genomic	CH471111.1	EAW58216.1
		EAW58217.1
		EAW58218.1
genomic	L31848.1	AAA53349.1
		AAA53350.1
		AAA53351.1
mRNA	AK299120.1	BAH12954.1
mRNA	AK299496.1	BAH13051.1
mRNA	AL117643.1	None
mRNA	BC000254.1	AAH00254.1
mRNA	BC034008.1	None
mRNA	BC040531.1	AAH40531.1
mRNA	BT007072.1	AAP35735.1
mRNA	L10125.1	AAA60555.1
mRNA	L10126.1	AAA60556.1
mRNA	U14722.1	AAA50246.1
mRNA	Z22536.1	CAA80258.1
other-genetic	EU831986.1	ACE87427.1
other-genetic	EU832079.1	ACE86741.1