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FLASH GENE

Symbol

ITGA6

contributors: mct - updated : 23-04-2012

HGNC name	integrin, alpha 6
HGNC id	6142

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBJPAA epidermolysis bullosa severe, junctional
Location	2q31.1      Physical location : 173.292.313 - 173.371.181
Synonym name	cell differentiation antigen CD49F, identified by monoclonal antibody GoH3
Synonym symbol(s)	CD49F, LAMRA, VLA6A, ITGA6B, DKFZp686J01244, FLJ18737

DNA

TYPE	functioning gene
STRUCTURE	78.87 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	laminin repressed transcription, directed by the promoter, by altering the nuclear levels of Sp1 and Sp3

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_001079818 25 splicing 5680 NP_001073286 122 1091 - 1991 2070796 a 23 amino acids signal peptide (2.3 kDa) encoding the longest product NM_000210 26 splicing 5810 NP_000201 119 1073 - 1991 2070796 a 23 amino acids signal peptide (2.3 kDa) containing an alternate exon resulting in a frameshift shortest product with a distinct C-terminus

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 Digestive esophagus       highly   intestine large intestine colon   highly   mouth tongue     moderately   stomach       highly Nervous nerve cranial nerve     moderately Reproductive female system breast mammary gland   moderately Respiratory respiratory tract larynx     highly Urinary bladder       highly Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)   lowly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	embryonic tissue, placenta
	upregulated in embryonic stem cells (hESCs) compared with mesenchymal stem cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

7 FG-GAP repeats domains

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	homolog to rattus Itga6 (92.45 pc)
	homolog to murine Itga6 (93.01 pc)

Homologene

FAMILY

integrin alpha chain family

CATEGORY

adhesion , antigen , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus
text	single-pass type I membrane protein

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
	mediating cell-extracellular matrix interactions also involved in the fertilization and embryonic development
	distinct roles of ITGA6 and ITGA4 in homing of fetal liver hematopoietic stem and progenitor cells
	major role in the proangiogenic properties of endothelial colony-forming cells (ECFCs)
	regulates signaling pathways in a variety of cellular activities
	cell-surface protein, having novel and dynamic roles in regulating the differentiation potential of mesenchymal stem cells and maintaining pluripotency

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	constituent of VLA-6 receptor
	dimerizing with ITGB1 (laminin receptor) or ITGB4 (constituent of hemidesmosome)

INTERACTION

DNA

RNA

small molecule

protein	synergistic role for TAF4B and JUN and other AP1 family members on the promoter of ITGA6, underlining the existence of a specific mechanism related to gene expression control
	NLGN1 induces blood vessel maturation by cooperating with ITGA6 (pMID: 24860089)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBJPAA

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in glioblastoma stem cells tumoral     --over   in precursor B-cell acute lymphoblastic leukemia constitutional     --low   identified transiently engrafting multipotent progenitors (MPPs)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma promising antiglioblastoma therapy cancer reproductive prostate ITGA6 cleavage permits extravasation of human prostate cancer cells from circulation to bone and can be manipulated to prevent metastasis cancer reproductive breast potential therapeutic target aimed at tumour-generating subsets of breast cancer cells

ANIMAL & CELL MODELS