UniProtKB - P53708 (ITA8_HUMAN)
Protein
Integrin alpha-8
Gene
ITGA8
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 329 – 337 | Sequence analysis | 9 | |
Calcium bindingi | 395 – 403 | Sequence analysis | 9 | |
Calcium bindingi | 459 – 467 | Sequence analysis | 9 |
GO - Molecular functioni
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- brain development Source: Ensembl
- cell-cell adhesion Source: UniProtKB
- cell-matrix adhesion Source: UniProtKB
- cell projection organization Source: Ensembl
- establishment of protein localization Source: Ensembl
- extracellular matrix organization Source: Reactome
- inner ear morphogenesis Source: Ensembl
- integrin-mediated signaling pathway Source: UniProtKB-KW
- kidney development Source: UniProtKB
- memory Source: Ensembl
- mesodermal cell differentiation Source: UniProtKB
- metanephros development Source: Ensembl
- positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation Source: Ensembl
- positive regulation of transforming growth factor beta receptor signaling pathway Source: Ensembl
- smooth muscle tissue development Source: Ensembl
- substrate adhesion-dependent cell spreading Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, Integrin, Receptor |
Biological process | Cell adhesion, Differentiation, Neurogenesis |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P53708 |
Reactomei | R-HSA-2129379, Molecules associated with elastic fibres R-HSA-216083, Integrin cell surface interactions R-HSA-3000178, ECM proteoglycans |
SignaLinki | P53708 |
SIGNORi | P53708 |
Names & Taxonomyi
Protein namesi | Recommended name: Integrin alpha-8Cleaved into the following 2 chains: |
Gene namesi | Name:ITGA8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000077943.7 |
HGNCi | HGNC:6144, ITGA8 |
MIMi | 604063, gene |
neXtProti | NX_P53708 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication
Other locations
- Membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Plasma Membrane
- dendritic spine membrane Source: Ensembl
- integrin alpha8-beta1 complex Source: BHF-UCL
- integrin complex Source: UniProtKB
- plasma membrane Source: Reactome
Other locations
- apical part of cell Source: Ensembl
- cell surface Source: UniProtKB
- focal adhesion Source: UniProtKB
- perikaryon Source: Ensembl
- postsynaptic density Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 39 – 1012 | ExtracellularSequence analysisAdd BLAST | 974 | |
Transmembranei | 1013 – 1033 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1034 – 1063 | CytoplasmicSequence analysisAdd BLAST | 30 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071106 | 255 | T → M in RHDA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777281EnsemblClinVar. | 1 | |
Natural variantiVAR_071107 | 407 | G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 8516 |
MalaCardsi | ITGA8 |
MIMi | 191830, phenotype |
OpenTargetsi | ENSG00000077943 |
Orphaneti | 1848, Renal agenesis, bilateral |
PharmGKBi | PA29944 |
Miscellaneous databases
Pharosi | P53708, Tbio |
Polymorphism and mutation databases
BioMutai | ITGA8 |
DMDMi | 311033437 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 38 | Sequence analysisAdd BLAST | 38 | |
ChainiPRO_0000016310 | 39 – 1063 | Integrin alpha-8Add BLAST | 1025 | |
ChainiPRO_0000016311 | 39 – 906 | Integrin alpha-8 heavy chainSequence analysisAdd BLAST | 868 | |
ChainiPRO_0000016312 | 907 – 1063 | Integrin alpha-8 light chainSequence analysisAdd BLAST | 157 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 81 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 96 ↔ 106 | By similarity | ||
Glycosylationi | 122 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 150 ↔ 171 | By similarity | ||
Glycosylationi | 177 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 187 ↔ 200 | By similarity | ||
Glycosylationi | 239 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 302 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 311 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 504 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 507 ↔ 518 | By similarity | ||
Disulfide bondi | 524 ↔ 580 | By similarity | ||
Glycosylationi | 601 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 605 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 641 ↔ 647 | By similarity | ||
Disulfide bondi | 713 ↔ 726 | By similarity | ||
Glycosylationi | 719 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 737 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 753 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 780 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 867 ↔ 924 | Interchain (between heavy and light chains)By similarity | ||
Glycosylationi | 896 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 923 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 929 ↔ 934 | By similarity | ||
Glycosylationi | 1005 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Cleavage on pair of basic residues, Disulfide bond, GlycoproteinProteomic databases
EPDi | P53708 |
jPOSTi | P53708 |
MassIVEi | P53708 |
MaxQBi | P53708 |
PaxDbi | P53708 |
PeptideAtlasi | P53708 |
PRIDEi | P53708 |
ProteomicsDBi | 56614 |
PTM databases
GlyGeni | P53708, 16 sites |
iPTMneti | P53708 |
PhosphoSitePlusi | P53708 |
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
Bgeei | ENSG00000077943, Expressed in thoracic aorta and 202 other tissues |
Genevisiblei | P53708, HS |
Organism-specific databases
HPAi | ENSG00000077943, Low tissue specificity |
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
BioGRIDi | 114088, 25 interactors |
ComplexPortali | CPX-1815, Integrin alpha8-beta1 complex |
CORUMi | P53708 |
IntActi | P53708, 15 interactors |
STRINGi | 9606.ENSP00000367316 |
Chemistry databases
BindingDBi | P53708 |
Miscellaneous databases
RNActi | P53708, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 44 – 105 | FG-GAP 1PROSITE-ProRule annotationAdd BLAST | 62 | |
Repeati | 122 – 183 | FG-GAP 2PROSITE-ProRule annotationAdd BLAST | 62 | |
Repeati | 188 – 240 | FG-GAP 3PROSITE-ProRule annotationAdd BLAST | 53 | |
Repeati | 253 – 306 | FG-GAP 4PROSITE-ProRule annotationAdd BLAST | 54 | |
Repeati | 307 – 372 | FG-GAP 5PROSITE-ProRule annotationAdd BLAST | 66 | |
Repeati | 373 – 431 | FG-GAP 6PROSITE-ProRule annotationAdd BLAST | 59 | |
Repeati | 435 – 498 | FG-GAP 7PROSITE-ProRule annotationAdd BLAST | 64 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 455 – 457 | Cell attachment siteSequence analysis | 3 |
Sequence similaritiesi
Belongs to the integrin alpha chain family.Curated
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3637, Eukaryota |
GeneTreei | ENSGT00940000156737 |
HOGENOMi | CLU_004111_4_0_1 |
InParanoidi | P53708 |
OMAi | NNEDAFE |
OrthoDBi | 743479at2759 |
PhylomeDBi | P53708 |
TreeFami | TF105391 |
Family and domain databases
Gene3Di | 2.130.10.130, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF01839, FG-GAP, 2 hits PF00357, Integrin_alpha, 1 hit PF08441, Integrin_alpha2, 1 hit |
PRINTSi | PR01185, INTEGRINA |
SMARTi | View protein in SMART SM00191, Int_alpha, 6 hits |
SUPFAMi | SSF69179, SSF69179, 3 hits |
PROSITEi | View protein in PROSITE PS51470, FG_GAP, 7 hits PS00242, INTEGRIN_ALPHA, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
P53708-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 47 | T → A in AAA93514 (PubMed:7768999).Curated | 1 | |
Sequence conflicti | 166 | D → G in AAA93514 (PubMed:7768999).Curated | 1 | |
Sequence conflicti | 188 | R → G in AAA93514 (PubMed:7768999).Curated | 1 | |
Sequence conflicti | 304 | T → Y in AAA93514 (PubMed:7768999).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018673 | 216 | V → L1 PublicationCorresponds to variant dbSNP:rs7895372EnsemblClinVar. | 1 | |
Natural variantiVAR_071106 | 255 | T → M in RHDA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777281EnsemblClinVar. | 1 | |
Natural variantiVAR_071107 | 407 | G → R in RHDA1; the mutant does not localize at the cell membrane. 1 PublicationCorresponds to variant dbSNP:rs374664941EnsemblClinVar. | 1 | |
Natural variantiVAR_034682 | 567 | V → L1 Publication | 1 | |
Natural variantiVAR_018674 | 577 | S → F2 PublicationsCorresponds to variant dbSNP:rs2298033Ensembl. | 1 | |
Natural variantiVAR_018675 | 581 | Q → P2 PublicationsCorresponds to variant dbSNP:rs9333269Ensembl. | 1 | |
Natural variantiVAR_018676 | 748 | R → H2 PublicationsCorresponds to variant dbSNP:rs9333174EnsemblClinVar. | 1 | |
Natural variantiVAR_018677 | 993 | I → V2 PublicationsCorresponds to variant dbSNP:rs9333241EnsemblClinVar. | 1 | |
Natural variantiVAR_018678 | 994 | V → 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 |
CCDSi | CCDS31155.1 |
RefSeqi | NP_003629.2, NM_003638.2 |
Genome annotation databases
Ensembli | ENST00000378076; ENSP00000367316; ENSG00000077943 |
GeneIDi | 8516 |
KEGGi | hsa:8516 |
UCSCi | uc001ioc.2, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar 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 |
CCDSi | CCDS31155.1 |
RefSeqi | NP_003629.2, NM_003638.2 |
3D structure databases
SMRi | P53708 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114088, 25 interactors |
ComplexPortali | CPX-1815, Integrin alpha8-beta1 complex |
CORUMi | P53708 |
IntActi | P53708, 15 interactors |
STRINGi | 9606.ENSP00000367316 |
Chemistry databases
BindingDBi | P53708 |
PTM databases
GlyGeni | P53708, 16 sites |
iPTMneti | P53708 |
PhosphoSitePlusi | P53708 |
Polymorphism and mutation databases
BioMutai | ITGA8 |
DMDMi | 311033437 |
Proteomic databases
EPDi | P53708 |
jPOSTi | P53708 |
MassIVEi | P53708 |
MaxQBi | P53708 |
PaxDbi | P53708 |
PeptideAtlasi | P53708 |
PRIDEi | P53708 |
ProteomicsDBi | 56614 |
Protocols and materials databases
Antibodypediai | 961, 202 antibodies |
DNASUi | 8516 |
Genome annotation databases
Ensembli | ENST00000378076; ENSP00000367316; ENSG00000077943 |
GeneIDi | 8516 |
KEGGi | hsa:8516 |
UCSCi | uc001ioc.2, human |
Organism-specific databases
CTDi | 8516 |
DisGeNETi | 8516 |
EuPathDBi | HostDB:ENSG00000077943.7 |
GeneCardsi | ITGA8 |
HGNCi | HGNC:6144, ITGA8 |
HPAi | ENSG00000077943, Low tissue specificity |
MalaCardsi | ITGA8 |
MIMi | 191830, phenotype 604063, gene |
neXtProti | NX_P53708 |
OpenTargetsi | ENSG00000077943 |
Orphaneti | 1848, Renal agenesis, bilateral |
PharmGKBi | PA29944 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3637, Eukaryota |
GeneTreei | ENSGT00940000156737 |
HOGENOMi | CLU_004111_4_0_1 |
InParanoidi | P53708 |
OMAi | NNEDAFE |
OrthoDBi | 743479at2759 |
PhylomeDBi | P53708 |
TreeFami | TF105391 |
Enzyme and pathway databases
PathwayCommonsi | P53708 |
Reactomei | R-HSA-2129379, Molecules associated with elastic fibres R-HSA-216083, Integrin cell surface interactions R-HSA-3000178, ECM proteoglycans |
SignaLinki | P53708 |
SIGNORi | P53708 |
Miscellaneous databases
BioGRID-ORCSi | 8516, 1 hit in 843 CRISPR screens |
ChiTaRSi | ITGA8, human |
GeneWikii | ITGA8 |
GenomeRNAii | 8516 |
Pharosi | P53708, Tbio |
PROi | PR:P53708 |
RNActi | P53708, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000077943, Expressed in thoracic aorta and 202 other tissues |
Genevisiblei | P53708, HS |
Family and domain databases
Gene3Di | 2.130.10.130, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF01839, FG-GAP, 2 hits PF00357, Integrin_alpha, 1 hit PF08441, Integrin_alpha2, 1 hit |
PRINTSi | PR01185, INTEGRINA |
SMARTi | View protein in SMART SM00191, Int_alpha, 6 hits |
SUPFAMi | SSF69179, SSF69179, 3 hits |
PROSITEi | View protein in PROSITE PS51470, FG_GAP, 7 hits PS00242, INTEGRIN_ALPHA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ITA8_HUMAN | |
Accessioni | P53708Primary (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: | December 2, 2020 | |
This is version 174 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations