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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

Keywordsi

Molecular functionDevelopmental protein, Integrin, Receptor
Biological processCell adhesion, Differentiation, Neurogenesis
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-2129379. Molecules associated with elastic fibres.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000178. ECM proteoglycans.
SignaLinkiP53708.
SIGNORiP53708.

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

EuPathDBiHostDB:ENSG00000077943.7.
HGNCiHGNC:6144. ITGA8.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 dbSNP:rs587777281Ensembl.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941Ensembl.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...) asparagineSequence analysis1
Disulfide bondi96 ↔ 106By similarity
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi150 ↔ 171By similarity
Glycosylationi177N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi187 ↔ 200By similarity
Glycosylationi239N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi302N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi311N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi504N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi507 ↔ 518By similarity
Disulfide bondi524 ↔ 580By similarity
Glycosylationi601N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi605N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi641 ↔ 647By similarity
Disulfide bondi713 ↔ 726By similarity
Glycosylationi719N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi737N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi753N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi780N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi867 ↔ 924Interchain (between heavy and light chains)By similarity
Glycosylationi896N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi923N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi929 ↔ 934By similarity
Glycosylationi1005N-linked (GlcNAc...) asparagineSequence 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. 25 interactors.
CORUMiP53708.
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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR013517. FG-GAP.
IPR013519. Int_alpha_beta-p.
IPR000413. Integrin_alpha.
IPR013649. Integrin_alpha-2.
IPR018184. Integrin_alpha_C_CS.
IPR032695. Integrin_dom.
PfamiView protein in Pfam
PF01839. FG-GAP. 2 hits.
PF00357. Integrin_alpha. 1 hit.
PF08441. Integrin_alpha2. 1 hit.
PRINTSiPR01185. INTEGRINA.
SMARTiView protein in SMART
SM00191. Int_alpha. 6 hits.
SUPFAMiSSF69179. SSF69179. 3 hits.
PROSITEiView protein in PROSITE
PS51470. FG_GAP. 7 hits.
PS00242. INTEGRIN_ALPHA. 1 hit.

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 → L1 PublicationCorresponds to variant dbSNP:rs7895372Ensembl.1
Natural variantiVAR_071106255T → M in RHDA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777281Ensembl.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941Ensembl.1
Natural variantiVAR_034682567V → L1 Publication1
Natural variantiVAR_018674577S → F2 PublicationsCorresponds to variant dbSNP:rs2298033Ensembl.1
Natural variantiVAR_018675581Q → P2 PublicationsCorresponds to variant dbSNP:rs9333269Ensembl.1
Natural variantiVAR_018676748R → H2 PublicationsCorresponds to variant dbSNP:rs9333174Ensembl.1
Natural variantiVAR_018677993I → V2 PublicationsCorresponds to variant dbSNP:rs9333241Ensembl.1
Natural variantiVAR_018678994V → A3 PublicationsCorresponds to variant dbSNP:rs1041135Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiITA8_HUMAN
AccessioniPrimary (citable) accession number: P53708
Secondary accession number(s): B0YJ31, Q5VX94
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 2, 2010
Last modified: September 27, 2017
This is version 153 of the entry and version 3 of the sequence. See 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