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FLASH GENE

Symbol

ACVR1C

contributors: mct/npt - updated : 15/10/2008

HGNC name	activin A receptor, type IC
HGNC id	18123

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q24.1      Physical location : 158.383.279 - 158.485.399
Synonym name	type 1 RSTK
	activin receptor-like kinase 7
Synonym symbol(s)	ALK7, ACVRLK7, ACTR-IC
EC.number	2.7.11.30

DNA

TYPE	functioning gene
STRUCTURE	102.12 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_145259 9 splicing 8892 NP_660302 54.7 493 - Roberts (2003) NM_001111031 9 splicing 8777 NP_001104501 49.6 443 - Roberts 2003 containing a distinct 5' UTR and lacking an in-frame portion of the 5' coding region compared to variant 1 also known as tALK7 lacking part of the activin receptor-binding domain NM_001111032 8 splicing 8652 NP_001104502 46.2 413 - Roberts (2003) lacking an alternate in-frame exon in the coding region compared to variant 1 also known as sALK7a lacking the transmembrane and GS domains NM_001111033 7 splicing 8421 NP_001104503 37.3 336 - Roberts (2003) lacking two alternate in-frame exons in the coding region compared to variant 1 also known as sALK7b lacking the transmembrane domain, GS domain, and part of the kinase domain

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Endocrine pancreas       highly Nervous brain       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     specific Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage
cell lines	insulinoma cell line MIN6
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 20 aa signal peptide
	a cysteine-rich extracellular region
	a GS domain
	a cytoplasmic serine/threonine kinase domain

mono polymer

complex

HOMOLOGY

interspecies	homolog to rattus Acvr1c (92.7 pc)
	homolog to murine Acvr1c (95.9 pc)

intraspecies

paralog to nodal

Homologene

FAMILY	protein kinase superfamily
	Ser/Thr protein kinase family
	transforming growth factor beta subfamily

CATEGORY

enzyme , receptor membrane serine/threonine

SUBCELLULAR LOCALIZATION	plasma membrane
text	single-pass type I membrane protein

basic FUNCTION	acting as a serine/threonine protein kinase
	being a receptor for activin AB, activin B and NODAL
	playing a role in cell differentiation, growth arrest and apoptosis

CELLULAR PROCESS	cell life, differentiation
	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

text	regulation of apoptosis

PATHWAY

metabolism

signaling

signal transduction

signaling through MADH2 after activation by NODAL

a component	forming a stable complex with type II receptor after ligand binding
	complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor, nucleotide,
	Mg2+
	Mn2+
	ATP

protein

binding the type 2 receptor protein ACVR2A

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS