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

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; AllianceGenome:HGNC:172
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: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (51951699..51997078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (51915269..51960644)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (52345483..52390862)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.
Title: Abundance of ACVR1B transcript is elevated during septic conditions: Perspectives obtained from a hands-on reductionist investigation.
Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.
Title: Activin receptor ALK4 promotes adipose tissue hyperplasia by suppressing differentiation of adipocyte precursors.
Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.
Title: Lack of Tgfbr1 and Acvr1b synergistically stimulates myofibre hypertrophy and accelerates muscle regeneration.
Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.
Title: Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population.
Activin A increases human trophoblast invasion by upregulating integrin beta1 through ALK4.
Title: Activin A increases human trophoblast invasion by upregulating integrin β1 through ALK4.
ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
Title: ALK4-SMAD3/4 mediates the effects of activin A on the upregulation of PAI-1 in human granulosa lutein cells.
[Involvement of Notch1 and ALK4/5 Signaling Pathways in Renal Tubular Cell Death: Their Application to Clarification of Cadmium Toxicity].
Title: [Involvement of Notch1 and ALK4/5 Signaling Pathways in Renal Tubular Cell Death: Their Application to Clarification of Cadmium Toxicity].
Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.
Title: Alterations in activin A-myostatin-follistatin system associate with disease activity in inflammatory myopathies.
Blockade of ALK4/5 signaling suppresses cadmium- and erastin-induced cell death in renal proximal tubular epithelial cells via distinct signaling mechanisms.
Title: Blockade of ALK4/5 signaling suppresses cadmium- and erastin-induced cell death in renal proximal tubular epithelial cells via distinct signaling mechanisms.
Multiple emphysema apicobasal distribution loci colocalize to regulatory elements that are active across multiple tissues and cell types, and functional analyses confirm the presence of an emphysema apicobasal distribution-associated functional variant that regulates ACVR1B expression, indicating that transforming growth factor-b signaling plays a role in the emphysema apicobasal distribution phenotype.
Title: Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Carcinoma of pancreas MedGen: C0235974 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69000 (e-PCR)
- UniSTS:54819

G64263 (e-PCR)
- UniSTS:166976

GDB:679112 (e-PCR)
- UniSTS:36488

G42984 (e-PCR)
- UniSTS:94857

G59320 (e-PCR)
- UniSTS:136635

A003N21 (e-PCR)
- UniSTS:62936

ACVR1B_689 (e-PCR)
- UniSTS:276959

ACVR1B_V62 (e-PCR)
- UniSTS:276959

G64264 (e-PCR)
- UniSTS:166636

G64251 (e-PCR)
- UniSTS:166637

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IEA Inferred from Electronic Annotation more info
enables I-SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables SMAD binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to activin binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to activin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables activin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables activin receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type I	IDA Inferred from Direct Assay more info	PubMed
enables activin receptor activity, type I	TAS Traceable Author Statement more info	PubMed
enables activin receptor activity, type II	IEA Inferred from Electronic Annotation more info
contributes_to growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables inhibin binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	EXP Inferred from Experiment more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables transforming growth factor beta receptor activity, type I	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type II	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type III	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein serine/threonine kinase activity	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G1/S transition of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in activin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface receptor protein serine/threonine kinase signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ossification	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nodal signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of erythrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of trophoblast cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of activin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of activin receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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_001399703.1

EC 2.7.11.30

NP_001399704.1

EC 2.7.11.30

NP_001399705.1

EC 2.7.11.30

NP_001399706.1

EC 2.7.11.30

NP_001399707.1

EC 2.7.11.30

NP_001399708.1

EC 2.7.11.30

NP_001399709.1

EC 2.7.11.30

NP_001399710.1

EC 2.7.11.30

NP_001399711.1

EC 2.7.11.30

NP_001399713.1

EC 2.7.11.30

NP_001399714.1

EC 2.7.11.30

NP_001399715.1

EC 2.7.11.30

NP_004293.1

EC 2.7.11.30

NP_064732.3

EC 2.7.11.30

NP_064733.3

EC 2.7.11.30

XP_011537269.1

EC 2.7.11.30

XP_047285812.1

EC 2.7.11.30

XP_047285813.1

EC 2.7.11.30

XP_047285814.1

EC 2.7.11.30

XP_054229758.1

EC 2.7.11.30

XP_054229759.1

EC 2.7.11.30

XP_054229760.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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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

5033..50412

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001412774.1 → NP_001399703.1 activin receptor type-1B isoform d precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412775.1 → NP_001399704.1 activin receptor type-1B isoform e precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412776.1 → NP_001399705.1 activin receptor type-1B isoform f precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412777.1 → NP_001399706.1 activin receptor type-1B isoform g precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412778.1 → NP_001399707.1 activin receptor type-1B isoform b

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412779.1 → NP_001399708.1 activin receptor type-1B isoform b

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412780.1 → NP_001399709.1 activin receptor type-1B isoform b

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412781.1 → NP_001399710.1 activin receptor type-1B isoform b

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412782.1 → NP_001399711.1 activin receptor type-1B isoform h precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412784.1 → NP_001399713.1 activin receptor type-1B isoform i precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412785.1 → NP_001399714.1 activin receptor type-1B isoform j precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_001412786.1 → NP_001399715.1 activin receptor type-1B isoform k precursor

Status: REVIEWED

Source sequence(s)

AC025259
NM_004302.5 → NP_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

B7Z5L8, B7Z5W5, P36896, Q15479, Q15480, Q15481, Q15482

Related

ENSP00000257963.4, ENST00000257963.9

Conserved Domains (3) summary

smart00467
Location:177 → 207

GS; GS motif

cd14143
Location:211 → 498

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:36 → 104

Activin_recp; Activin types I and II receptor domain
NM_020327.5 → NP_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. Variants 2 and 8-11 all encode the same isoform (b).

Source sequence(s)

AC025259

Consensus CDS

CCDS44893.2

UniProtKB/Swiss-Prot

P36896

Related

ENSP00000442885.1, ENST00000542485.1

Conserved Domains (2) summary

smart00467
Location:125 → 155

GS; GS motif

cd14143
Location:159 → 446

STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
NM_020328.4 → NP_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:211 → 539

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:32 → 105

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:178 → 205

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RNA

NR_182041.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC025259
NR_182042.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC025259
NR_182043.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC025259
NR_182044.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC025259

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

51951699..51997078

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429858.1 → XP_047285814.1 activin receptor type-1B isoform X1
XM_011538967.4 → XP_011537269.1 activin receptor type-1B isoform X2

Conserved Domains (3) summary

pfam01064
Location:32 → 109

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:178 → 205

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl21453
Location:211 → 270

PKc_like; Protein Kinases, catalytic domain
XM_047429856.1 → XP_047285812.1 activin receptor type-1B isoform X1
XM_047429857.1 → XP_047285813.1 activin receptor type-1B isoform X1