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FLASH GENE

Symbol

ACVR1B

contributors: - updated : 04-01-2006

HGNC name	activin A receptor, type IB
HGNC id	172

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q13      Physical location : 52.345.450 - 52.390.863
Synonym name	activin A receptor-like kinase 4
Synonym symbol(s)	ACVRLK4, ALK4, ARLK4, SKR2
EC.number	2.7.1.37

DNA

TYPE	functioning gene
STRUCTURE	35.00 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	polyA addition to alternative exons 8a/8b, 9a/9b, 10a/10b at each of three C terminal coding exon-intron junctions

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed SKR2-1 - - 2372 56.8 505 - Xu exons 7, 8a, 9a, 10a, 11 SKR2-2 - splicing polyA site 1781 53.5 476 - Xu exons 7, 8a, 9a, 10b SKR2-3 - splicing polyA site 1705 54.8 487 - Xu exons 7, 8a, 9b SKR2-4 - splicing polyA site - - - - Xu exons 7 + 8b

EXPRESSION

Type

widely

constitutive of

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 liver         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a small cysteine-rich extracellular region, with five hydrophobic amino acid residues
	a juxtamembrane region of phosphorylation, glycine and serine rich (GS)
	a cytoplasmic serine/threonine kinase domain
	a functional binding site for activin

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

enzyme , receptor membrane serine/threonine kinase

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 1 membrane protein

basic FUNCTION

transmembrane receptor involved in protein serine / threonine kinase signaling pathway

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

transducing signals from NODAL

a component	heterodimerization of alternative variants with type II receptor (forming a stable complex after ligand binding)
	complexing with AIP1, ACVR2, ACVR1B and MADH3

INTERACTION

DNA

RNA

small molecule

protein

activating MADH2, MADH4, FOXH1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in pancreatic carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS