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Protein

Integrin alpha-8

Gene

ITGA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1, SPP1 TGFB1, TGFB3 and VTN. NPNT is probably its functional ligand in kidney genesis. Neuronal receptor for TNC it mediates cell-cell interactions and regulates neurite outgrowth of sensory and motor neurons.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi329 – 337Sequence analysis9
Calcium bindingi395 – 403Sequence analysis9
Calcium bindingi459 – 467Sequence analysis9

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Integrin, Receptor

Keywords - Biological processi

Cell adhesion, Differentiation, Neurogenesis

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000077943-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000178. ECM proteoglycans.
SignaLinkiP53708.

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin alpha-8
Cleaved into the following 2 chains:
Gene namesi
Name:ITGA8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:6144. ITGA8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini39 – 1012ExtracellularSequence analysisAdd BLAST974
Transmembranei1013 – 1033HelicalSequence analysisAdd BLAST21
Topological domaini1034 – 1063CytoplasmicSequence analysisAdd BLAST30

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • cell surface Source: UniProtKB
  • dendritic spine membrane Source: Ensembl
  • endoplasmic reticulum Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • integrin alpha8-beta1 complex Source: BHF-UCL
  • integrin complex Source: UniProtKB
  • perikaryon Source: Ensembl
  • plasma membrane Source: Reactome
  • postsynaptic density Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Renal hypodysplasia/aplasia 1 (RHDA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.
See also OMIM:191830
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071106255T → M in RHDA1; unknown pathological significance. 1 PublicationCorresponds to variant rs587777281dbSNPEnsembl.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant rs374664941dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8516.
MalaCardsiITGA8.
MIMi191830. phenotype.
OpenTargetsiENSG00000077943.
Orphaneti1848. Bilateral renal agenesis.
PharmGKBiPA29944.

Polymorphism and mutation databases

BioMutaiITGA8.
DMDMi311033437.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 38Sequence analysisAdd BLAST38
ChainiPRO_000001631039 – 1063Integrin alpha-8Add BLAST1025
ChainiPRO_000001631139 – 906Integrin alpha-8 heavy chainSequence analysisAdd BLAST868
ChainiPRO_0000016312907 – 1063Integrin alpha-8 light chainSequence analysisAdd BLAST157

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi81N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi96 ↔ 106By similarity
Glycosylationi122N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi150 ↔ 171By similarity
Glycosylationi177N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi187 ↔ 200By similarity
Glycosylationi239N-linked (GlcNAc...)Sequence analysis1
Glycosylationi302N-linked (GlcNAc...)Sequence analysis1
Glycosylationi311N-linked (GlcNAc...)Sequence analysis1
Glycosylationi504N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi507 ↔ 518By similarity
Disulfide bondi524 ↔ 580By similarity
Glycosylationi601N-linked (GlcNAc...)Sequence analysis1
Glycosylationi605N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi641 ↔ 647By similarity
Disulfide bondi713 ↔ 726By similarity
Glycosylationi719N-linked (GlcNAc...)Sequence analysis1
Glycosylationi737N-linked (GlcNAc...)Sequence analysis1
Glycosylationi753N-linked (GlcNAc...)Sequence analysis1
Glycosylationi780N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi867 ↔ 924Interchain (between heavy and light chains)By similarity
Glycosylationi896N-linked (GlcNAc...)Sequence analysis1
Glycosylationi923N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi929 ↔ 934By similarity
Glycosylationi1005N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP53708.
PaxDbiP53708.
PeptideAtlasiP53708.
PRIDEiP53708.

PTM databases

iPTMnetiP53708.
PhosphoSitePlusiP53708.

Expressioni

Tissue specificityi

Expressed in mesenchymal cells, including alveolar myofibroblasts, kidney mesangial cells and hepatic stellar cells and vascular and visceral smooth muscle (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000077943.
CleanExiHS_ITGA8.
GenevisibleiP53708. HS.

Organism-specific databases

HPAiHPA003432.

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-8 associates with beta-1.

Protein-protein interaction databases

BioGridi114088. 17 interactors.
STRINGi9606.ENSP00000367316.

Structurei

3D structure databases

ProteinModelPortaliP53708.
SMRiP53708.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati44 – 105FG-GAP 1PROSITE-ProRule annotationAdd BLAST62
Repeati122 – 183FG-GAP 2PROSITE-ProRule annotationAdd BLAST62
Repeati188 – 240FG-GAP 3PROSITE-ProRule annotationAdd BLAST53
Repeati253 – 306FG-GAP 4PROSITE-ProRule annotationAdd BLAST54
Repeati307 – 372FG-GAP 5PROSITE-ProRule annotationAdd BLAST66
Repeati373 – 431FG-GAP 6PROSITE-ProRule annotationAdd BLAST59
Repeati435 – 498FG-GAP 7PROSITE-ProRule annotationAdd BLAST64

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi455 – 457Cell attachment siteSequence analysis3

Sequence similaritiesi

Belongs to the integrin alpha chain family.Curated
Contains 7 FG-GAP repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3637. Eukaryota.
ENOG410XPVZ. LUCA.
GeneTreeiENSGT00760000118782.
HOGENOMiHOG000231603.
HOVERGENiHBG006186.
InParanoidiP53708.
KOiK06584.
OMAiMCIPDLK.
OrthoDBiEOG091G05Z4.
PhylomeDBiP53708.
TreeFamiTF105391.

Family and domain databases

InterProiIPR013517. FG-GAP.
IPR013519. Int_alpha_beta-p.
IPR000413. Integrin_alpha.
IPR013649. Integrin_alpha-2.
IPR018184. Integrin_alpha_C_CS.
IPR032695. Integrin_dom.
[Graphical view]
PfamiPF01839. FG-GAP. 2 hits.
PF00357. Integrin_alpha. 1 hit.
PF08441. Integrin_alpha2. 1 hit.
[Graphical view]
PRINTSiPR01185. INTEGRINA.
SMARTiSM00191. Int_alpha. 6 hits.
[Graphical view]
SUPFAMiSSF69179. SSF69179. 3 hits.
PROSITEiPS51470. FG_GAP. 7 hits.
PS00242. INTEGRIN_ALPHA. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P53708-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSPGASRGPR GSQAPLIAPL CCAAAALGML LWSPACQAFN LDVEKLTVYS
60 70 80 90 100
GPKGSYFGYA VDFHIPDART ASVLVGAPKA NTSQPDIVEG GAVYYCPWPA
110 120 130 140 150
EGSAQCRQIP FDTTNNRKIR VNGTKEPIEF KSNQWFGATV KAHKGKVVAC
160 170 180 190 200
APLYHWRTLK PTPEKDPVGT CYVAIQNFSA YAEFSPCRNS NADPEGQGYC
210 220 230 240 250
QAGFSLDFYK NGDLIVGGPG SFYWQGQVIT ASVADIIANY SFKDILRKLA
260 270 280 290 300
GEKQTEVAPA SYDDSYLGYS VAAGEFTGDS QQELVAGIPR GAQNFGYVSI
310 320 330 340 350
INSTDMTFIQ NFTGEQMASY FGYTVVVSDV NSDGLDDVLV GAPLFMEREF
360 370 380 390 400
ESNPREVGQI YLYLQVSSLL FRDPQILTGT ETFGRFGSAM AHLGDLNQDG
410 420 430 440 450
YNDIAIGVPF AGKDQRGKVL IYNGNKDGLN TKPSQVLQGV WASHAVPSGF
460 470 480 490 500
GFTLRGDSDI DKNDYPDLIV GAFGTGKVAV YRARPVVTVD AQLLLHPMII
510 520 530 540 550
NLENKTCQVP DSMTSAACFS LRVCASVTGQ SIANTIVLMA EVQLDSLKQK
560 570 580 590 600
GAIKRTLFLD NHQAHRVFPL VIKRQKSHQC QDFIVYLRDE TEFRDKLSPI
610 620 630 640 650
NISLNYSLDE STFKEGLEVK PILNYYRENI VSEQAHILVD CGEDNLCVPD
660 670 680 690 700
LKLSARPDKH QVIIGDENHL MLIINARNEG EGAYEAELFV MIPEEADYVG
710 720 730 740 750
IERNNKGFRP LSCEYKMENV TRMVVCDLGN PMVSGTNYSL GLRFAVPRLE
760 770 780 790 800
KTNMSINFDL QIRSSNKDNP DSNFVSLQIN ITAVAQVEIR GVSHPPQIVL
810 820 830 840 850
PIHNWEPEEE PHKEEEVGPL VEHIYELHNI GPSTISDTIL EVGWPFSARD
860 870 880 890 900
EFLLYIFHIQ TLGPLQCQPN PNINPQDIKP AASPEDTPEL SAFLRNSTIP
910 920 930 940 950
HLVRKRDVHV VEFHRQSPAK ILNCTNIECL QISCAVGRLE GGESAVLKVR
960 970 980 990 1000
SRLWAHTFLQ RKNDPYALAS LVSFEVKKMP YTDQPAKLPE GSIVIKTSVI
1010 1020 1030 1040 1050
WATPNVSFSI PLWVIILAIL LGLLVLAILT LALWKCGFFD RARPPQEDMT
1060
DREQLTNDKT PEA
Length:1,063
Mass (Da):117,474
Last modified:November 2, 2010 - v3
Checksum:i8F9614BDBB897D77
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti47T → A in AAA93514 (PubMed:7768999).Curated1
Sequence conflicti166D → G in AAA93514 (PubMed:7768999).Curated1
Sequence conflicti188R → G in AAA93514 (PubMed:7768999).Curated1
Sequence conflicti304T → Y in AAA93514 (PubMed:7768999).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018673216V → L.1 PublicationCorresponds to variant rs7895372dbSNPEnsembl.1
Natural variantiVAR_071106255T → M in RHDA1; unknown pathological significance. 1 PublicationCorresponds to variant rs587777281dbSNPEnsembl.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant rs374664941dbSNPEnsembl.1
Natural variantiVAR_034682567V → L.1 Publication1
Natural variantiVAR_018674577S → F.2 PublicationsCorresponds to variant rs2298033dbSNPEnsembl.1
Natural variantiVAR_018675581Q → P.2 PublicationsCorresponds to variant rs9333269dbSNPEnsembl.1
Natural variantiVAR_018676748R → H.2 PublicationsCorresponds to variant rs9333174dbSNPEnsembl.1
Natural variantiVAR_018677993I → V.2 PublicationsCorresponds to variant rs9333241dbSNPEnsembl.1
Natural variantiVAR_018678994V → A.3 PublicationsCorresponds to variant rs1041135dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY371697 Genomic DNA. Translation: AAQ56848.2.
EF444991 Genomic DNA. Translation: ACA06009.1.
AL359645, AL590636 Genomic DNA. Translation: CAH73424.1.
AL590636, AL359645 Genomic DNA. Translation: CAI14955.1.
CH471072 Genomic DNA. Translation: EAW86235.1.
L36531 mRNA. Translation: AAA93514.1.
CCDSiCCDS31155.1.
RefSeqiNP_003629.2. NM_003638.2.
UniGeneiHs.171311.
Hs.592472.

Genome annotation databases

EnsembliENST00000378076; ENSP00000367316; ENSG00000077943.
GeneIDi8516.
KEGGihsa:8516.
UCSCiuc001ioc.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY371697 Genomic DNA. Translation: AAQ56848.2.
EF444991 Genomic DNA. Translation: ACA06009.1.
AL359645, AL590636 Genomic DNA. Translation: CAH73424.1.
AL590636, AL359645 Genomic DNA. Translation: CAI14955.1.
CH471072 Genomic DNA. Translation: EAW86235.1.
L36531 mRNA. Translation: AAA93514.1.
CCDSiCCDS31155.1.
RefSeqiNP_003629.2. NM_003638.2.
UniGeneiHs.171311.
Hs.592472.

3D structure databases

ProteinModelPortaliP53708.
SMRiP53708.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114088. 17 interactors.
STRINGi9606.ENSP00000367316.

PTM databases

iPTMnetiP53708.
PhosphoSitePlusiP53708.

Polymorphism and mutation databases

BioMutaiITGA8.
DMDMi311033437.

Proteomic databases

MaxQBiP53708.
PaxDbiP53708.
PeptideAtlasiP53708.
PRIDEiP53708.

Protocols and materials databases

DNASUi8516.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378076; ENSP00000367316; ENSG00000077943.
GeneIDi8516.
KEGGihsa:8516.
UCSCiuc001ioc.2. human.

Organism-specific databases

CTDi8516.
DisGeNETi8516.
GeneCardsiITGA8.
H-InvDBHIX0035424.
HGNCiHGNC:6144. ITGA8.
HPAiHPA003432.
MalaCardsiITGA8.
MIMi191830. phenotype.
604063. gene.
neXtProtiNX_P53708.
OpenTargetsiENSG00000077943.
Orphaneti1848. Bilateral renal agenesis.
PharmGKBiPA29944.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3637. Eukaryota.
ENOG410XPVZ. LUCA.
GeneTreeiENSGT00760000118782.
HOGENOMiHOG000231603.
HOVERGENiHBG006186.
InParanoidiP53708.
KOiK06584.
OMAiMCIPDLK.
OrthoDBiEOG091G05Z4.
PhylomeDBiP53708.
TreeFamiTF105391.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000077943-MONOMER.
ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000178. ECM proteoglycans.
SignaLinkiP53708.

Miscellaneous databases

ChiTaRSiITGA8. human.
GeneWikiiITGA8.
GenomeRNAii8516.
PROiP53708.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077943.
CleanExiHS_ITGA8.
GenevisibleiP53708. HS.

Family and domain databases

InterProiIPR013517. FG-GAP.
IPR013519. Int_alpha_beta-p.
IPR000413. Integrin_alpha.
IPR013649. Integrin_alpha-2.
IPR018184. Integrin_alpha_C_CS.
IPR032695. Integrin_dom.
[Graphical view]
PfamiPF01839. FG-GAP. 2 hits.
PF00357. Integrin_alpha. 1 hit.
PF08441. Integrin_alpha2. 1 hit.
[Graphical view]
PRINTSiPR01185. INTEGRINA.
SMARTiSM00191. Int_alpha. 6 hits.
[Graphical view]
SUPFAMiSSF69179. SSF69179. 3 hits.
PROSITEiPS51470. FG_GAP. 7 hits.
PS00242. INTEGRIN_ALPHA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITA8_HUMAN
AccessioniPrimary (citable) accession number: P53708
Secondary accession number(s): B0YJ31, Q5VX94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 146 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.