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Protein

Integrin alpha-8

Gene

ITGA8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi604063 gene
neXtProtiNX_P53708

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:rs587777281EnsemblClinVar.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8516
MalaCardsiITGA8
MIMi191830 phenotype
OpenTargetsiENSG00000077943
Orphaneti1848 Renal agenesis, bilateral
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

EPDiP53708
MaxQBiP53708
PaxDbiP53708
PeptideAtlasiP53708
PRIDEiP53708
ProteomicsDBi56614

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 Expressed in 189 organ(s), highest expression level in thoracic aorta
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
ComplexPortaliCPX-1815 Integrin alpha8-beta1 complex
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
GeneTreeiENSGT00930000150849
HOGENOMiHOG000231603
HOVERGENiHBG006186
InParanoidiP53708
KOiK06584
OMAiMCIPDLK
OrthoDBiEOG091G05Z4
PhylomeDBiP53708
TreeFamiTF105391

Family and domain databases

Gene3Di2.130.10.130, 1 hit
InterProiView protein in InterPro
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf
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:rs587777281EnsemblClinVar.1
Natural variantiVAR_071107407G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941EnsemblClinVar.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 Genomic DNA No translation available.
AL590636 Genomic DNA No translation available.
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

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 Genomic DNA No translation available.
AL590636 Genomic DNA No translation available.
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, 25 interactors
ComplexPortaliCPX-1815 Integrin alpha8-beta1 complex
CORUMiP53708
STRINGi9606.ENSP00000367316

PTM databases

iPTMnetiP53708
PhosphoSitePlusiP53708

Polymorphism and mutation databases

BioMutaiITGA8
DMDMi311033437

Proteomic databases

EPDiP53708
MaxQBiP53708
PaxDbiP53708
PeptideAtlasiP53708
PRIDEiP53708
ProteomicsDBi56614

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
EuPathDBiHostDB:ENSG00000077943.7
GeneCardsiITGA8
H-InvDBiHIX0035424
HGNCiHGNC:6144 ITGA8
HPAiHPA003432
MalaCardsiITGA8
MIMi191830 phenotype
604063 gene
neXtProtiNX_P53708
OpenTargetsiENSG00000077943
Orphaneti1848 Renal agenesis, bilateral
PharmGKBiPA29944
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3637 Eukaryota
ENOG410XPVZ LUCA
GeneTreeiENSGT00930000150849
HOGENOMiHOG000231603
HOVERGENiHBG006186
InParanoidiP53708
KOiK06584
OMAiMCIPDLK
OrthoDBiEOG091G05Z4
PhylomeDBiP53708
TreeFamiTF105391

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

Miscellaneous databases

ChiTaRSiITGA8 human
GeneWikiiITGA8
GenomeRNAii8516
PROiPR:P53708
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077943 Expressed in 189 organ(s), highest expression level in thoracic aorta
CleanExiHS_ITGA8
GenevisibleiP53708 HS

Family and domain databases

Gene3Di2.130.10.130, 1 hit
InterProiView protein in InterPro
IPR013517 FG-GAP
IPR013519 Int_alpha_beta-p
IPR000413 Integrin_alpha
IPR013649 Integrin_alpha-2
IPR018184 Integrin_alpha_C_CS
IPR028994 Integrin_alpha_N
IPR032695 Integrin_dom_sf
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
ProtoNetiSearch...

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: November 7, 2018
This is version 161 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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