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Protein

Immunoglobulin superfamily member 5

Gene

IGSF5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Provides, together with MAGI1, an adhesion machinery at tight junctions, which may regulate the permeability of kidney glomerulus and small intestinal epithelial cells. Mediates calcium-independent homophilic cell adhesion. In testis, it may function as a cell adhesion molecule rather than a tight-junction protein. It may participate in the adhesion between spermatogonia-spermatogonia, spermatogonia-Sertoli cells, and Sertoli cells-Sertoli cells (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-33892-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Immunoglobulin superfamily member 5
Short name:
IgSF5
Alternative name(s):
Junctional adhesion molecule 4
Short name:
JAM-4
Gene namesi
Name:IGSF5
Synonyms:JAM4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:5952. IGSF5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 266ExtracellularSequence analysisAdd BLAST266
Transmembranei267 – 285HelicalSequence analysisAdd BLAST19
Topological domaini286 – 407CytoplasmicSequence analysisAdd BLAST122

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Tight junction

Pathology & Biotechi

Organism-specific databases

DisGeNETi150084.
OpenTargetsiENSG00000183067.
PharmGKBiPA29765.

Polymorphism and mutation databases

BioMutaiIGSF5.
DMDMi166918602.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003162951 – 407Immunoglobulin superfamily member 5Add BLAST407

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi59N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi60 ↔ 123PROSITE-ProRule annotation
Glycosylationi103N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi163 ↔ 215PROSITE-ProRule annotation
Glycosylationi210N-linked (GlcNAc...)Sequence analysis1
Glycosylationi231N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9NSI5.
PRIDEiQ9NSI5.

PTM databases

iPTMnetiQ9NSI5.
PhosphoSitePlusiQ9NSI5.

Expressioni

Gene expression databases

BgeeiENSG00000183067.
CleanExiHS_IGSF5.
GenevisibleiQ9NSI5. HS.

Organism-specific databases

HPAiHPA057282.

Interactioni

Subunit structurei

Interacts with MAGI1 at tight junctions, forms a tripartite complex with NPHS1. Interacts with LNX1 isoform 2 via its PDZ 2 domain, it may also interact with other isoforms containing this domain.By similarity

Protein-protein interaction databases

BioGridi127259. 3 interactors.
STRINGi9606.ENSP00000369962.

Structurei

3D structure databases

ProteinModelPortaliQ9NSI5.
SMRiQ9NSI5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 139Ig-like V-type 1Add BLAST101
Domaini142 – 231Ig-like V-type 2Add BLAST90

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi281 – 307Cys-richAdd BLAST27

Sequence similaritiesi

Belongs to the immunoglobulin superfamily.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFJ9. Eukaryota.
ENOG410Y7FC. LUCA.
GeneTreeiENSGT00390000018711.
HOGENOMiHOG000113018.
HOVERGENiHBG059033.
InParanoidiQ9NSI5.
KOiK06786.
OMAiITNDRFT.
OrthoDBiEOG091G0A0I.
PhylomeDBiQ9NSI5.
TreeFamiTF335729.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
[Graphical view]
PfamiPF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NSI5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGQKERSTAD TLPDLEEWKS AAGLRWWQTA VVDGSGSGNE VIEGPQNARV
60 70 80 90 100
LKGSQARFNC TVSQGWKLIM WALSDMVVLS VRPMEPIITN DRFTSQRYDQ
110 120 130 140 150
GGNFTSEMII HNVEPSDSGN IRCSLQNSRL HGSAYLTVQV MGELFIPSVN
160 170 180 190 200
LVVAENEPCE VTCLPSHWTR LPDISWELGL LVSHSSYYFV PEPSDLQSAV
210 220 230 240 250
SILALTPQSN GTLTCVATWK SLKARKSATV NLTVIRCPQD TGGGINIPGV
260 270 280 290 300
LSSLPSLGFS LPTWGKVGLG LAGTMLLTPT CTLTIRCCCC RRRCCGCNCC
310 320 330 340 350
CRCCFCCRRK RGFRIQFQKK SEKEKTNKET ETESGNENSG YNSDEQKTTD
360 370 380 390 400
TASLPPKSCE SSDPEQRNSS CGPPHQRADQ RPPRPASHPQ ASFNLASPEK

VSNTTVV
Length:407
Mass (Da):44,593
Last modified:February 5, 2008 - v2
Checksum:iE7C1B3E96D4B6BF3
GO

Sequence cautioni

The sequence CAB90447 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03838149R → T.1 PublicationCorresponds to variant rs2205204dbSNPEnsembl.1
Natural variantiVAR_038382156N → K.Corresponds to variant rs11908882dbSNPEnsembl.1
Natural variantiVAR_038383170R → W.Corresponds to variant rs8129968dbSNPEnsembl.1
Natural variantiVAR_038384350D → E.1 PublicationCorresponds to variant rs2837225dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092516 mRNA. No translation available.
AL163280 Genomic DNA. Translation: CAB90447.1. Sequence problems.
CCDSiCCDS33562.1.
RefSeqiNP_001073913.1. NM_001080444.1.
UniGeneiHs.422120.

Genome annotation databases

EnsembliENST00000380588; ENSP00000369962; ENSG00000183067.
GeneIDi150084.
KEGGihsa:150084.
UCSCiuc002yyo.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK092516 mRNA. No translation available.
AL163280 Genomic DNA. Translation: CAB90447.1. Sequence problems.
CCDSiCCDS33562.1.
RefSeqiNP_001073913.1. NM_001080444.1.
UniGeneiHs.422120.

3D structure databases

ProteinModelPortaliQ9NSI5.
SMRiQ9NSI5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127259. 3 interactors.
STRINGi9606.ENSP00000369962.

PTM databases

iPTMnetiQ9NSI5.
PhosphoSitePlusiQ9NSI5.

Polymorphism and mutation databases

BioMutaiIGSF5.
DMDMi166918602.

Proteomic databases

PaxDbiQ9NSI5.
PRIDEiQ9NSI5.

Protocols and materials databases

DNASUi150084.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380588; ENSP00000369962; ENSG00000183067.
GeneIDi150084.
KEGGihsa:150084.
UCSCiuc002yyo.3. human.

Organism-specific databases

CTDi150084.
DisGeNETi150084.
GeneCardsiIGSF5.
HGNCiHGNC:5952. IGSF5.
HPAiHPA057282.
MIMi610638. gene.
neXtProtiNX_Q9NSI5.
OpenTargetsiENSG00000183067.
PharmGKBiPA29765.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFJ9. Eukaryota.
ENOG410Y7FC. LUCA.
GeneTreeiENSGT00390000018711.
HOGENOMiHOG000113018.
HOVERGENiHBG059033.
InParanoidiQ9NSI5.
KOiK06786.
OMAiITNDRFT.
OrthoDBiEOG091G0A0I.
PhylomeDBiQ9NSI5.
TreeFamiTF335729.

Enzyme and pathway databases

BioCyciZFISH:G66-33892-MONOMER.

Miscellaneous databases

GenomeRNAii150084.
PROiQ9NSI5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000183067.
CleanExiHS_IGSF5.
GenevisibleiQ9NSI5. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
[Graphical view]
PfamiPF07679. I-set. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIGSF5_HUMAN
AccessioniPrimary (citable) accession number: Q9NSI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: November 2, 2016
This is version 103 of the entry and version 2 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

Miscellaneous

A protein of the expected size has been detected by antibody binding and Western blot in at least one of the analyzed tissues or cells.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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.