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FLASH GENE

Symbol

ITGA7

contributors: mct - updated : 21-03-2020

HGNC name	integrin, alpha 7
HGNC id	6143

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ITGA7D congenital myopathy with delayed motor milestones, due to ITGA7 deficiency
Location	12q13.2      Physical location : 56.078.355 - 56.106.089
Synonym symbol(s)	FLJ25220

DNA

TYPE	functioning gene
STRUCTURE	31.47 kb     25 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced isoforms (cardiac and skeletal)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001367993 26 - 3934 NP_001354922 - 1028 - 2019 31325216 NM_001144997 25 - 3675 NP_001138469 - 1044 - 2019 31325216 NM_001367994 24 - 3954 NP_001354923 - 689 - 2019 31325216 NM_001374465 25 - 4108 NP_001361394 - 1131 - 2019 31325216 NM_001144996 25 - 4138 NP_001138468 - 1141 - 2019 31325216 NM_002206 24 - 4126 NP_002197 - 1138 - 2019 31325216

EXPRESSION

Type

widely

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 Homo sapiens Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum cardiac     Homo sapiens Muscular striatum skeletal     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminus of ITGA7 interacts with high temperature requirement A2 (HTRA2), a serine protease with a critical role in apoptosis

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

integrin family

CATEGORY

adhesion , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	sarcolemmal
	type I membrane protein
	colocalized with FHL2 and FHL3 at the periphery of Z-discs

basic FUNCTION	cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells, through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells
	critical roles of ITGA7 and UTRN in maintaining myotendinous junction structure and enabling force transmission during muscle contraction
	is an epigenetically regulated tumour suppressor gene
	plays a key functional role in growth and invasiveness of glioblastoma stem-like cells (GSCs)
	playing a role in mechanical stabilization of muscle cells
	promotes cell proliferation, stemness but suppresses cell apoptosis in non-small-cell lung cancer (NSCLC)
	role of ITGA7 and extracellular matrix interactions in Acute myeloid leukemia (AML) cell proliferation and extramedullary disease development

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

critical signaling mechanism of ITGA7, through the TIMP3/NFKB1/CCND1 pathway

a component

dimerizing with ITGB1 in laminin receptor

INTERACTION

DNA

RNA

small molecule

protein	specific cellular receptor for the basement membrane protein laminin-1
	ITGA7 increases the protease activity of HTRA2, and deletion of the HTRA2 interaction domain abrogates the cell death activity of ITGA7, whereas down-regulation of HTRA2 dramatically reduced cell death mediated by ITGA7
	ITGA7 binds to tissue inhibitor of metalloproteinase 3 (TIMP3) in prostate cancer cells
	S100P interacts with ITGA7 and increases cancer cell migration and invasion in lung cancer
	FOXC1 promotes colorectal cancer metastasis through transactivating ITGA7 and FGFR4 expression

cell & other

REGULATION

Other

developmentally regulated during the formation of skeletal muscle cell

ASSOCIATED DISORDERS

corresponding disease(s)

ITGA7D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in Acute myeloid leukemia (AML) with granulocytic sarcoma (GS)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	might serve as a potential biomarker for predicting increased AML risk and worse prognosis in AML patients
	is a glioblastoma biomarker
	prognostic factor in human Malignant pleural mesothelioma (MPM)
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma is a glioblastoma candidate therapeutic target (PMID: 28602620) cancer digestive oesophagus could be a potential therapeutic target in oesophageal squamous cell carcinoma treatment

ANIMAL & CELL MODELS

alpha7 integrin null mices embryos exhibit vascular smooth muscle cell defects that result in cerebral vascular hemorrhaging