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FLASH GENE

Symbol

ARVCF

contributors: mct - updated : 19-10-2016

HGNC name	armadillo repeat gene deletes in velocardiofacial syndrome
HGNC id	728

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	46.00 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed ARVCF 20 - 4031 104 962 - -

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 Cardiovascular heart       highly Endocrine parathyroid       highly Reproductive male system prostate     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a coiled-coil domain
	ten repeats of the Armadillo motif
	a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein

HOMOLOGY

interspecies

homolog to Drosophila armadillo repeat gene

Homologene

FAMILY

beta-catenin family

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	involved in protein-protein interaction at adherens juctions
	playing an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell
	is likely involved in alternative splicing, generating proteomic diversity, and its deregulation may contribute to diseased states, such as cancer and neurological disorders

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ARVCF interacts with different proteins involved in mRNA-processing: SRSF1 (SF2/ASF), DDX5, and HNRNPH2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in del22q11

Susceptibility

to schizophrenia in a Chinese Han population

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS