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Protein

Integrin alpha-3

Gene

ITGA3

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

Functioni

Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi315 – 323Sequence analysis9
Calcium bindingi378 – 386Sequence analysis9
Calcium bindingi439 – 447Sequence analysis9

GO - Molecular functioni

  • glycoprotein binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • dendritic spine maintenance Source: Ensembl
  • exploration behavior Source: Ensembl
  • extracellular matrix organization Source: Reactome
  • heart development Source: Ensembl
  • integrin-mediated signaling pathway Source: UniProtKB-KW
  • leukocyte migration Source: Reactome
  • lung development Source: UniProtKB
  • maternal process involved in female pregnancy Source: Ensembl
  • memory Source: Ensembl
  • mesodermal cell differentiation Source: UniProtKB
  • negative regulation of cell projection organization Source: Ensembl
  • negative regulation of Rho protein signal transduction Source: Ensembl
  • nephron development Source: UniProtKB
  • neuron migration Source: Ensembl
  • positive regulation of cell-substrate adhesion Source: Ensembl
  • positive regulation of epithelial cell migration Source: Ensembl
  • positive regulation of establishment of protein localization to plasma membrane Source: UniProtKB
  • positive regulation of gene expression Source: Ensembl
  • positive regulation of neuron projection development Source: Ensembl
  • regulation of BMP signaling pathway Source: UniProtKB
  • regulation of transforming growth factor beta receptor signaling pathway Source: UniProtKB
  • regulation of Wnt signaling pathway Source: UniProtKB
  • renal filtration Source: UniProtKB
  • response to drug Source: Ensembl
  • response to gonadotropin Source: Ensembl
  • skin development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Integrin, Receptor

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005884-MONOMER.
ReactomeiR-HSA-210991. Basigin interactions.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000157. Laminin interactions.
R-HSA-8874081. MET activates PTK2 signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Integrin alpha-3
Alternative name(s):
CD49 antigen-like family member C
FRP-2
Galactoprotein B3
Short name:
GAPB3
VLA-3 subunit alpha
CD_antigen: CD49c
Cleaved into the following 2 chains:
Gene namesi
Name:ITGA3
Synonyms:MSK18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:6139. ITGA3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini33 – 991ExtracellularSequence analysisAdd BLAST959
Transmembranei992 – 1014HelicalSequence analysisAdd BLAST23
Topological domaini1015 – 1051CytoplasmicSequence analysisAdd BLAST37

GO - Cellular componenti

  • basolateral plasma membrane Source: Ensembl
  • cell periphery Source: UniProtKB
  • cell surface Source: UniProtKB
  • excitatory synapse Source: Ensembl
  • external side of plasma membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • filopodium membrane Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • growth cone Source: Ensembl
  • integrin alpha3-beta1 complex Source: UniProtKB
  • integrin complex Source: ProtInc
  • invadopodium membrane Source: UniProtKB
  • perinuclear region of cytoplasm Source: Ensembl
  • plasma membrane Source: BHF-UCL
  • receptor complex Source: MGI
  • synaptic membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA multiorgan disorder characterized by congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease.
See also OMIM:614748
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068808628R → P in ILNEB. 1 PublicationCorresponds to variant rs140781106dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1016C → S: Abolishes palmitoylation. 1 Publication1

Keywords - Diseasei

Epidermolysis bullosa

Organism-specific databases

DisGeNETi3675.
MalaCardsiITGA3.
MIMi614748. phenotype.
OpenTargetsiENSG00000005884.
Orphaneti306504. Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome.
PharmGKBiPA29939.

Chemistry databases

ChEMBLiCHEMBL3525.
GuidetoPHARMACOLOGYi2442.

Polymorphism and mutation databases

BioMutaiITGA3.
DMDMi347595830.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 323 PublicationsAdd BLAST32
ChainiPRO_000001623833 – 1051Integrin alpha-3Add BLAST1019
ChainiPRO_000001623933 – 872Integrin alpha-3 heavy chainSequence analysisAdd BLAST840
ChainiPRO_0000016240876 – 1051Integrin alpha-3 light chainSequence analysisAdd BLAST176

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi86N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi94 ↔ 1031 Publication
Glycosylationi107N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi140 ↔ 1621 Publication
Disulfide bondi185 ↔ 1971 Publication
Glycosylationi265N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi485 ↔ 490By similarity
Disulfide bondi496 ↔ 550By similarity
Glycosylationi500N-linked (GlcNAc...)Sequence analysis1
Glycosylationi511N-linked (GlcNAc...)Sequence analysis1
Glycosylationi573N-linked (GlcNAc...)Sequence analysis1
Glycosylationi605N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi615 ↔ 6211 Publication
Glycosylationi656N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi694 ↔ 7021 Publication
Glycosylationi697N-linked (GlcNAc...)Sequence analysis1
Glycosylationi841N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi846 ↔ 904Interchain (between heavy and light chains)1 Publication
Glycosylationi857N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi911 ↔ 9161 Publication
Glycosylationi926N-linked (GlcNAc...)Sequence analysis1
Glycosylationi935N-linked (GlcNAc...)Sequence analysis1
Glycosylationi969N-linked (GlcNAc...)Sequence analysis1
Lipidationi1016S-palmitoyl cysteine1 Publication1

Post-translational modificationi

Isoform 1, but not isoform 2, is phosphorylated on serine residues. Phosphorylation increases after phorbol 12-myristate 13-acetate stimulation.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiP26006.
PaxDbiP26006.
PeptideAtlasiP26006.
PRIDEiP26006.

PTM databases

iPTMnetiP26006.
PhosphoSitePlusiP26006.
SwissPalmiP26006.
UniCarbKBiP26006.

Miscellaneous databases

PMAP-CutDBP26006.

Expressioni

Tissue specificityi

Isoform 1 is widely expressed. Isoform 2 is expressed in brain and heart. In brain, both isoforms are exclusively expressed on vascular smooth muscle cells, whereas in heart isoform 1 is strongly expressed on vascular smooth muscle cells, isoform 2 is detected only on endothelial vein cells.1 Publication

Gene expression databases

BgeeiENSG00000005884.
CleanExiHS_ITGA3.
ExpressionAtlasiP26006. baseline and differential.

Organism-specific databases

HPAiCAB018594.
HPA008572.

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-3 associates with beta-1. Interacts with HPS5. Interacts with FAP (seprase); the interaction occurs at the cell surface of invadopodia membrane in a collagen-dependent manner.2 Publications

GO - Molecular functioni

  • protease binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi109882. 16 interactors.
DIPiDIP-140N.
IntActiP26006. 5 interactors.
MINTiMINT-140288.
STRINGi9606.ENSP00000007722.

Chemistry databases

BindingDBiP26006.

Structurei

3D structure databases

ProteinModelPortaliP26006.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati38 – 103FG-GAP 1PROSITE-ProRule annotationAdd BLAST66
Repeati110 – 171FG-GAP 2PROSITE-ProRule annotationAdd BLAST62
Repeati185 – 235FG-GAP 3PROSITE-ProRule annotationAdd BLAST51
Repeati236 – 292FG-GAP 4PROSITE-ProRule annotationAdd BLAST57
Repeati293 – 354FG-GAP 5PROSITE-ProRule annotationAdd BLAST62
Repeati356 – 411FG-GAP 6PROSITE-ProRule annotationAdd BLAST56
Repeati415 – 477FG-GAP 7PROSITE-ProRule annotationAdd BLAST63

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1015 – 1021Interaction with HPS57

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1017 – 1021GFFKR motif5

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

eggNOGiENOG410IPB6. Eukaryota.
ENOG410ZZD8. LUCA.
GeneTreeiENSGT00760000118782.
HOGENOMiHOG000015786.
HOVERGENiHBG108011.
InParanoidiP26006.
KOiK06482.
OMAiYIGYTMQ.
OrthoDBiEOG091G012D.
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.
PF08441. Integrin_alpha2. 1 hit.
[Graphical view]
PRINTSiPR01185. INTEGRINA.
SMARTiSM00191. Int_alpha. 5 hits.
[Graphical view]
SUPFAMiSSF69179. SSF69179. 3 hits.
PROSITEiPS51470. FG_GAP. 7 hits.
PS00242. INTEGRIN_ALPHA. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P26006-2) [UniParc]FASTAAdd to basket
Also known as: Alpha-3A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGPGPSRAPR APRLMLCALA LMVAAGGCVV SAFNLDTRFL VVKEAGNPGS
60 70 80 90 100
LFGYSVALHR QTERQQRYLL LAGAPRELAV PDGYTNRTGA VYLCPLTAHK
110 120 130 140 150
DDCERMNITV KNDPGHHIIE DMWLGVTVAS QGPAGRVLVC AHRYTQVLWS
160 170 180 190 200
GSEDQRRMVG KCYVRGNDLE LDSSDDWQTY HNEMCNSNTD YLETGMCQLG
210 220 230 240 250
TSGGFTQNTV YFGAPGAYNW KGNSYMIQRK EWDLSEYSYK DPEDQGNLYI
260 270 280 290 300
GYTMQVGSFI LHPKNITIVT GAPRHRHMGA VFLLSQEAGG DLRRRQVLEG
310 320 330 340 350
SQVGAYFGSA IALADLNNDG WQDLLVGAPY YFERKEEVGG AIYVFMNQAG
360 370 380 390 400
TSFPAHPSLL LHGPSGSAFG LSVASIGDIN QDGFQDIAVG APFEGLGKVY
410 420 430 440 450
IYHSSSKGLL RQPQQVIHGE KLGLPGLATF GYSLSGQMDV DENFYPDLLV
460 470 480 490 500
GSLSDHIVLL RARPVINIVH KTLVPRPAVL DPALCTATSC VQVELCFAYN
510 520 530 540 550
QSAGNPNYRR NITLAYTLEA DRDRRPPRLR FAGSESAVFH GFFSMPEMRC
560 570 580 590 600
QKLELLLMDN LRDKLRPIII SMNYSLPLRM PDRPRLGLRS LDAYPILNQA
610 620 630 640 650
QALENHTEVQ FQKECGPDNK CESNLQMRAA FVSEQQQKLS RLQYSRDVRK
660 670 680 690 700
LLLSINVTNT RTSERSGEDA HEALLTLVVP PALLLSSVRP PGACQANETI
710 720 730 740 750
FCELGNPFKR NQRMELLIAF EVIGVTLHTR DLQVQLQLST SSHQDNLWPM
760 770 780 790 800
ILTLLVDYTL QTSLSMVNHR LQSFFGGTVM GESGMKTVED VGSPLKYEFQ
810 820 830 840 850
VGPMGEGLVG LGTLVLGLEW PYEVSNGKWL LYPTEITVHG NGSWPCRPPG
860 870 880 890 900
DLINPLNLTL SDPGDRPSSP QRRRRQLDPG GGQGPPPVTL AAAKKAKSET
910 920 930 940 950
VLTCATGRAH CVWLECPIPD APVVTNVTVK ARVWNSTFIE DYRDFDRVRV
960 970 980 990 1000
NGWATLFLRT SIPTINMENK TTWFSVDIDS ELVEELPAEI ELWLVLVAVG
1010 1020 1030 1040 1050
AGLLLLGLII LLLWKCGFFK RARTRALYEA KRQKAEMKSQ PSETERLTDD

Y
Length:1,051
Mass (Da):116,612
Last modified:September 21, 2011 - v5
Checksum:iEEAFA7778EF17B21
GO
Isoform 2 (identifier: P26006-1) [UniParc]FASTAAdd to basket
Also known as: Alpha-3B

The sequence of this isoform differs from the canonical sequence as follows:
     1017-1051: GFFKRARTRALYEAKRQKAEMKSQPSETERLTDDY → DFFKRTRYYQ...TSWQTRDQYY

Show »
Length:1,066
Mass (Da):118,756
Checksum:i18F243887966B8CE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_055967268I → F.Corresponds to variant rs2230390dbSNPEnsembl.1
Natural variantiVAR_068808628R → P in ILNEB. 1 PublicationCorresponds to variant rs140781106dbSNPEnsembl.1
Natural variantiVAR_055968719A → T.Corresponds to variant rs2230392dbSNPEnsembl.1
Natural variantiVAR_055969840G → S.Corresponds to variant rs2301626dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0027211017 – 1051GFFKR…LTDDY → DFFKRTRYYQIMPKYHAVRI REEERYPPPGSTLPTKKHWV TSWQTRDQYY in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M59911 mRNA. Translation: AAA36120.1.
AK289961 mRNA. Translation: BAF82650.1.
AC002401 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94645.1.
CH471109 Genomic DNA. Translation: EAW94646.1.
CH471109 Genomic DNA. Translation: EAW94647.1.
CH471109 Genomic DNA. Translation: EAW94648.1.
BC136636 mRNA. Translation: AAI36637.1.
BC144328 mRNA. Translation: AAI44329.1.
BC150190 mRNA. Translation: AAI50191.1.
D01038 mRNA. Translation: BAA00845.1.
CCDSiCCDS11558.1. [P26006-2]
PIRiA40021.
RefSeqiNP_002195.1. NM_002204.3. [P26006-2]
UniGeneiHs.265829.
Hs.660689.

Genome annotation databases

EnsembliENST00000007722; ENSP00000007722; ENSG00000005884. [P26006-1]
ENST00000320031; ENSP00000315190; ENSG00000005884. [P26006-2]
GeneIDi3675.
KEGGihsa:3675.
UCSCiuc010dbl.4. human. [P26006-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M59911 mRNA. Translation: AAA36120.1.
AK289961 mRNA. Translation: BAF82650.1.
AC002401 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94645.1.
CH471109 Genomic DNA. Translation: EAW94646.1.
CH471109 Genomic DNA. Translation: EAW94647.1.
CH471109 Genomic DNA. Translation: EAW94648.1.
BC136636 mRNA. Translation: AAI36637.1.
BC144328 mRNA. Translation: AAI44329.1.
BC150190 mRNA. Translation: AAI50191.1.
D01038 mRNA. Translation: BAA00845.1.
CCDSiCCDS11558.1. [P26006-2]
PIRiA40021.
RefSeqiNP_002195.1. NM_002204.3. [P26006-2]
UniGeneiHs.265829.
Hs.660689.

3D structure databases

ProteinModelPortaliP26006.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109882. 16 interactors.
DIPiDIP-140N.
IntActiP26006. 5 interactors.
MINTiMINT-140288.
STRINGi9606.ENSP00000007722.

Chemistry databases

BindingDBiP26006.
ChEMBLiCHEMBL3525.
GuidetoPHARMACOLOGYi2442.

PTM databases

iPTMnetiP26006.
PhosphoSitePlusiP26006.
SwissPalmiP26006.
UniCarbKBiP26006.

Polymorphism and mutation databases

BioMutaiITGA3.
DMDMi347595830.

Proteomic databases

EPDiP26006.
PaxDbiP26006.
PeptideAtlasiP26006.
PRIDEiP26006.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000007722; ENSP00000007722; ENSG00000005884. [P26006-1]
ENST00000320031; ENSP00000315190; ENSG00000005884. [P26006-2]
GeneIDi3675.
KEGGihsa:3675.
UCSCiuc010dbl.4. human. [P26006-2]

Organism-specific databases

CTDi3675.
DisGeNETi3675.
GeneCardsiITGA3.
HGNCiHGNC:6139. ITGA3.
HPAiCAB018594.
HPA008572.
MalaCardsiITGA3.
MIMi605025. gene.
614748. phenotype.
neXtProtiNX_P26006.
OpenTargetsiENSG00000005884.
Orphaneti306504. Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome.
PharmGKBiPA29939.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPB6. Eukaryota.
ENOG410ZZD8. LUCA.
GeneTreeiENSGT00760000118782.
HOGENOMiHOG000015786.
HOVERGENiHBG108011.
InParanoidiP26006.
KOiK06482.
OMAiYIGYTMQ.
OrthoDBiEOG091G012D.
TreeFamiTF105391.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000005884-MONOMER.
ReactomeiR-HSA-210991. Basigin interactions.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-3000157. Laminin interactions.
R-HSA-8874081. MET activates PTK2 signaling.

Miscellaneous databases

ChiTaRSiITGA3. human.
GeneWikiiCD49c.
GenomeRNAii3675.
PMAP-CutDBP26006.
PROiP26006.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000005884.
CleanExiHS_ITGA3.
ExpressionAtlasiP26006. baseline and differential.

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.
PF08441. Integrin_alpha2. 1 hit.
[Graphical view]
PRINTSiPR01185. INTEGRINA.
SMARTiSM00191. Int_alpha. 5 hits.
[Graphical view]
SUPFAMiSSF69179. SSF69179. 3 hits.
PROSITEiPS51470. FG_GAP. 7 hits.
PS00242. INTEGRIN_ALPHA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiITA3_HUMAN
AccessioniPrimary (citable) accession number: P26006
Secondary accession number(s): A7E246
, B7ZM80, B9EGQ1, D3DTX4, D3DTX5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: September 21, 2011
Last modified: November 30, 2016
This is version 182 of the entry and version 5 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, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. 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.