ACVR1C activin A receptor type 1C [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACVR1Cprovided by HGNC
Official Full Name: activin A receptor type 1Cprovided by HGNC
Primary source: HGNC:HGNC:18123
See related: Ensembl:ENSG00000123612 MIM:608981; AllianceGenome:HGNC:18123
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALK7; ACVRLK7
Summary: ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in fat (RPKM 19.0), colon (RPKM 1.8) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q24.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (157526767..157628864, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (157980200..158081964, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (158383279..158485376, complement)

Chromosome 2 - NC_000002.12 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 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?

Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice.
Title: Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice.
Regulation of metabolic homeostasis by the TGF-beta superfamily receptor ALK7.
Title: Regulation of metabolic homeostasis by the TGF-β superfamily receptor ALK7.
Activin receptor-like kinase 7 silencing alleviates cardiomyocyte apoptosis, cardiac fibrosis, and dysfunction in diabetic rats.
Title: Activin receptor-like kinase 7 silencing alleviates cardiomyocyte apoptosis, cardiac fibrosis, and dysfunction in diabetic rats.
UV-Induced Reduction of ACVR1C Decreases SREBP1 and ACC Expression by the Suppression of SMAD2 Phosphorylation in Normal Human Epidermal Keratinocytes.
Title: UV-Induced Reduction of ACVR1C Decreases SREBP1 and ACC Expression by the Suppression of SMAD2 Phosphorylation in Normal Human Epidermal Keratinocytes.
Knockdown of ALK7 inhibits high glucose-induced oxidative stress and apoptosis in retinal pigment epithelial cells.
Title: Knockdown of ALK7 inhibits high glucose-induced oxidative stress and apoptosis in retinal pigment epithelial cells.
Control of brown adipose tissue adaptation to nutrient stress by the activin receptor ALK7.
Title: Control of brown adipose tissue adaptation to nutrient stress by the activin receptor ALK7.
The activin-ALK7 pathway as a mediator of endothelial ablation by PDAC.
Title: A biomimetic pancreatic cancer on-chip reveals endothelial ablation via ALK7 signaling.
Authors report that the TGFss superfamily receptor ALK7 is a suppressor of tumorigenesis and metastasis, as revealed by functional studies in mouse models of pancreatic neuroendocrine and luminal breast cancer, complemented by experimental metastasis assays.
Title: ALK7 Signaling Manifests a Homeostatic Tissue Barrier That Is Abrogated during Tumorigenesis and Metastasis.
Taken together, our observations suggest that activin signaling mediated through ALK7 could therefore contribute to the hormonal heterogeneity and increased proliferation of prolactinomas.
Title: ALK7 expression in prolactinoma is associated with reduced prolactin and increased proliferation.
ACVR1C/SMAD2 pathway in promoting invasion and growth of retinoblastoma
Title: ACVR1C/SMAD2 signaling promotes invasion and growth in retinoblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

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

BZ943404 (e-PCR)
- UniSTS:474950

SHGC-145176 (e-PCR)
- UniSTS:174428

SHGC-156123 (e-PCR)
- UniSTS:183440

D1S3697 (e-PCR)
- UniSTS:474275

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
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 growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IC Inferred by Curator more info	PubMed
enables nodal binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein serine/threonine kinase activity	TAS Traceable Author Statement more info
enables transforming growth factor beta receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic nuclear changes	IDA Inferred from Direct Assay more info	PubMed
involved_in cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in lipid storage	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of chorionic trophoblast cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of trophoblast cell migration	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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	IC Inferred by Curator more info	PubMed
involved_in response to dietary excess	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within trophectodermal cell proliferation	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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: activin receptor type-1C

Names: ACTR-IC; ALK-7; activin A receptor, type IC; activin receptor type IC; activin receptor-like kinase 7

NP_001104501.1

EC 2.7.11.30

NP_001104502.1

EC 2.7.11.30

NP_001104503.1

EC 2.7.11.30

NP_660302.2

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.

mRNA and Protein(s)

NM_001111031.2 → NP_001104501.1 activin receptor type-1C isoform 2

See identical proteins and their annotated locations for NP_001104501.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2), also known as tALK7, has a shorter N-terminus when compared to isoform 1, and lacks part of the activin receptor-binding domain.

Source sequence(s)

AC079750

Consensus CDS

CCDS46434.1

UniProtKB/Swiss-Prot

Q8NER5

Related

ENSP00000387168.3, ENST00000409680.7

Conserved Domains (3) summary

cd14143
Location:149 → 436

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:1 → 45

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:116 → 143

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001111032.2 → NP_001104502.1 activin receptor type-1C isoform 3 precursor

See identical proteins and their annotated locations for NP_001104502.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1. The resulting isoform (3), also known as sALK7a, lacks the transmembrane and GS domains, compared to isoform 1.

Source sequence(s)

AC019186, AC079750

Consensus CDS

CCDS46433.1

UniProtKB/Swiss-Prot

Q8NER5

Related

ENSP00000335178.7, ENST00000335450.7

Conserved Domains (4) summary

cd14143
Location:119 → 406

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:26 → 100

Activin_recp; Activin types I and II receptor domain

pfam07714
Location:115 → 398

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:101 → 113

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001111033.2 → NP_001104503.1 activin receptor type-1C isoform 4 precursor

See identical proteins and their annotated locations for NP_001104503.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks two alternate in-frame exons in the coding region, compared to variant 1. The resulting isoform (4), also known as sALK7b, lacks the transmembrane domain, GS domain, and part of the kinase domain, compared to isoform 1.

Source sequence(s)

AC019186, AC079750

Consensus CDS

CCDS46432.1

UniProtKB/Swiss-Prot

Q8NER5

Related

ENSP00000335139.6, ENST00000348328.9

Conserved Domains (2) summary

pfam01064
Location:26 → 100

Activin_recp; Activin types I and II receptor domain

cl21453
Location:102 → 329

PKc_like; Protein Kinases, catalytic domain
NM_145259.3 → NP_660302.2 activin receptor type-1C isoform 1 precursor

See identical proteins and their annotated locations for NP_660302.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC019186, AC079750

Consensus CDS

CCDS2205.1

UniProtKB/Swiss-Prot

Q4ZFZ8, Q86UL1, Q86UL2, Q8NER5, Q8TBG2

Related

ENSP00000243349.7, ENST00000243349.13

Conserved Domains (4) summary

cd14143
Location:199 → 486

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:26 → 100

Activin_recp; Activin types I and II receptor domain

pfam07714
Location:195 → 478

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:166 → 193

TGF_beta_GS; Transforming growth factor beta type I GS-motif