• Gene id: 3655

Gene Summary

• Gene Symbol: ITGA6   Gene   UCSC   Ensembl
• Aliases: CD49f, ITGA6B, VLA-6
• Gene name: integrin subunit alpha 6
• Alternate names: integrin alpha-6, CD49 antigen-like family member F, integrin alpha6B, integrin, alpha 6,
• Gene location: 2q31.1 (172427353: 172506454)     Exons: 28     NC_000002.12
• Gene summary(Entrez): The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is
• OMIM: 147556

Protein Summary

• Protein general information: P23229  
  • Name: Integrin alpha 6 (CD49 antigen like family member F) (VLA 6) (CD antigen CD49f) [Cleaved into: Integrin alpha 6 heavy chain; Integrin alpha 6 light chain; Processed integrin alpha 6 (Alpha6p)]
  • Length: 1130  
  • Mass: 126,606
• Sequence:

  MAAAGQLCLLYLSAGLLSRLGAAFNLDTREDNVIRKYGDPGSLFGFSLAMHWQLQPEDKRLLLVGAPRAEALPLQ
  RANRTGGLYSCDITARGPCTRIEFDNDADPTSESKEDQWMGVTVQSQGPGGKVVTCAHRYEKRQHVNTKQESRDI
  FGRCYVLSQNLRIEDDMDGGDWSFCDGRLRGHEKFGSCQQGVAATFTKDFHYIVFGAPGTYNWKGIVRVEQKNNT
  FFDMNIFEDGPYEVGGETEHDESLVPVPANSYLGLLFLTSVSYTDPDQFVYKTRPPREQPDTFPDVMMNSYLGFS
  LDSGKGIVSKDEITFVSGAPRANHSGAVVLLKRDMKSAHLLPEHIFDGEGLASSFGYDVAVVDLNKDGWQDIVIG
  APQYFDRDGEVGGAVYVYMNQQGRWNNVKPIRLNGTKDSMFGIAVKNIGDINQDGYPDIAVGAPYDDLGKVFIYH
  GSANGINTKPTQVLKGISPYFGYSIAGNMDLDRNSYPDVAVGSLSDSVTIFRSRPVINIQKTITVTPNRIDLRQK
  TACGAPSGICLQVKSCFEYTANPAGYNPSISIVGTLEAEKERRKSGLSSRVQFRNQGSEPKYTQELTLKRQKQKV
  CMEETLWLQDNIRDKLRPIPITASVEIQEPSSRRRVNSLPEVLPILNSDEPKTAHIDVHFLKEGCGDDNVCNSNL
  KLEYKFCTREGNQDKFSYLPIQKGVPELVLKDQKDIALEITVTNSPSNPRNPTKDGDDAHEAKLIATFPDTLTYS
  AYRELRAFPEKQLSCVANQNGSQADCELGNPFKRNSNVTFYLVLSTTEVTFDTPDLDINLKLETTSNQDNLAPIT
  AKAKVVIELLLSVSGVAKPSQVYFGGTVVGEQAMKSEDEVGSLIEYEFRVINLGKPLTNLGTATLNIQWPKEISN
  GKWLLYLVKVESKGLEKVTCEPQKEINSLNLTESHNSRKKREITEKQIDDNRKFSLFAERKYQTLNCSVNVNCVN
  IRCPLRGLDSKASLILRSRLWNSTFLEEYSKLNYLDILMRAFIDVTAAAENIRLPNAGTQVRVTVFPSKTVAQYS
  GVPWWIILVAILAGILMLALLVFILWKCGFFKRSRYDDSVPRYHAVRIRKEEREIKDEKYIDNLEKKQWITKWNE
  NESYS

• Structural information:
  • Interpro: IPR013517  IPR013519  IPR000413  IPR013649  IPR018184   IPR028994  IPR032695  
  • Prosite: PS51470 PS00242
  • STRING: ENSP00000386896
• Other Databases: GeneCards:  ITGA6  Malacards:  ITGA6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0007044	cell-substrate junction assembly	TAS	biological process
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010668	ectodermal cell differentiation	IEP	biological process
GO:0022409	positive regulation of cell-cell adhesion	IEA	biological process
GO:0030056	hemidesmosome	IEA	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0031589	cell-substrate adhesion	IMP	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0033627	cell adhesion mediated by integrin	IEA	biological process
GO:0035878	nail development	IMP	biological process
GO:0042327	positive regulation of phosphorylation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0043588	skin development	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046847	filopodium assembly	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048565	digestive tract development	IMP	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0072001	renal system development	IMP	biological process
GO:0097186	amelogenesis	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0031994	insulin-like growth factor I binding	IDA	molecular function
GO:0038132	neuregulin binding	IDA	molecular function
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0007044	cell-substrate junction assembly	TAS	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007160	cell-matrix adhesion	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0008305	integrin complex	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010668	ectodermal cell differentiation	IEP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0022409	positive regulation of cell-cell adhesion	IEA	biological process
GO:0030056	hemidesmosome	IEA	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0031589	cell-substrate adhesion	IMP	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0033627	cell adhesion mediated by integrin	IEA	biological process
GO:0035878	nail development	IMP	biological process
GO:0042327	positive regulation of phosphorylation	IMP	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0043588	skin development	IMP	biological process
GO:0045178	basal part of cell	IEA	cellular component
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0046847	filopodium assembly	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048565	digestive tract development	IMP	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0050900	leukocyte migration	IEA	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0072001	renal system development	IMP	biological process
GO:0097186	amelogenesis	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0031994	insulin-like growth factor I binding	IDA	molecular function
GO:0038132	neuregulin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0007044	cell-substrate junction assembly	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0010668	ectodermal cell differentiation	IEP	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0031581	hemidesmosome assembly	TAS	biological process
GO:0031589	cell-substrate adhesion	IMP	biological process
GO:0035878	nail development	IMP	biological process
GO:0042327	positive regulation of phosphorylation	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IGI	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0043588	skin development	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048565	digestive tract development	IMP	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0072001	renal system development	IMP	biological process
GO:0097186	amelogenesis	IMP	biological process
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0031994	insulin-like growth factor I binding	IDA	molecular function
GO:0038132	neuregulin binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04512	ECM-receptor interaction
hsa04514	Cell adhesion molecules
hsa04510	Focal adhesion
hsa04810	Regulation of actin cytoskeleton
hsa04640	Hematopoietic cell lineage
hsa05200	Pathways in cancer
hsa05222	Small cell lung cancer
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05414	Dilated cardiomyopathy
hsa05165	Human papillomavirus infection
hsa05145	Toxoplasmosis

Diseases

Associated diseases	References
Cancer	GAD: 19767753
Cancer (prostate)	GAD: 19767753
Cancer (ovarian)	GAD: 20628624
Cancer (breast)	GAD: 18550570
Cardiovascular disease	GAD: 17903301
Atherosclerosis	GAD: 20485444
Epidermolysis bullosa	OMIM: 147556
Fertilizing defects	INFBASE: 7540183
Endometriosis	INFBASE: 8976878
Recurrent pregnancy loss (RPL)	INFBASE: 14666169
Oocyte maturation	INFBASE: 15526973
Unexplained infertility	INFBASE: 14666169
Uterine receptivity	INFBASE: 10519628
Male factor infertility	MIK: 12801565
Sperm quality defects	MIK: 12801565
Sperm quality defects	MIK: 12801565
Non obstructive azoospermia	MIK: 20590666
Obstructive azoospermia	MIK: 20590666
Fertilizing defects	MIK: 7540183
Female infertility	INFBASE: 15526973
Cutis laxa	KEGG: H00557
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Fertilizing ability	MIK: 7540183
Obstructive azoospermia	MIK: 20590666
Non-obstructive azoospermia	MIK: 20590666
Sperm quality	MIK: 12801565
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20590666	Obstructive and non-obstructive azoospermia				Male infertility	GFRalpha-1  integrin alpha6
12801565	Sperm quality			82 (62 men with infertility, 20 healthy, proven-fertile controls)	Male infertility
7540183	Fertilizing ability			50 semen samples	Male infertility	alpha 4 alpha 5 beta 1-integrin and alpha 6
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray