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Protein

Immunoglobulin superfamily member 6

Gene

IGSF6

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

Functioni

GO - Molecular functioni

  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  • cell surface receptor signaling pathway Source: ProtInc
  • immune response Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Immunoglobulin superfamily member 6
Short name:
IgSF6
Alternative name(s):
Protein DORA
Gene namesi
Name:IGSF6
Synonyms:DORA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:5953. IGSF6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 153126ExtracellularSequence analysisAdd
BLAST
Transmembranei154 – 17421HelicalSequence analysisAdd
BLAST
Topological domaini175 – 24167CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29766.

Polymorphism and mutation databases

BioMutaiIGSF6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence analysisAdd
BLAST
Chaini28 – 241214Immunoglobulin superfamily member 6PRO_5000065014Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi51 ↔ 118PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiO95976.
PaxDbiO95976.
PeptideAtlasiO95976.
PRIDEiO95976.

PTM databases

iPTMnetiO95976.
PhosphoSiteiO95976.

Expressioni

Tissue specificityi

Expressed in peripheral blood lymphocytes, spleen and lymph node, with low levels in thymus, bone marrow and fetal liver. No expression in non-immune tissues.1 Publication

Inductioni

By TNF and CSF2/GM-CSF in dendritic cells and down regulation by phorbol myristate acetate (PMA) and ionomycin in monocytes.1 Publication

Gene expression databases

BgeeiO95976.
CleanExiHS_IGSF6.
ExpressionAtlasiO95976. baseline and differential.
GenevisibleiO95976. HS.

Organism-specific databases

HPAiHPA041023.
HPA041072.

Interactioni

Protein-protein interaction databases

BioGridi115553. 7 interactions.
IntActiO95976. 1 interaction.
STRINGi9606.ENSP00000268389.

Structurei

3D structure databases

ProteinModelPortaliO95976.
SMRiO95976. Positions 31-144.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 134105Ig-like C2-typeAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IUPA. Eukaryota.
ENOG410Z30T. LUCA.
GeneTreeiENSGT00390000014131.
HOGENOMiHOG000113019.
HOVERGENiHBG098510.
InParanoidiO95976.
OMAiKDNTYEN.
OrthoDBiEOG7Z69DZ.
PhylomeDBiO95976.
TreeFamiTF335767.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00406. IGv. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

O95976-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGTASRSNIA RHLQTNLILF CVGAVGACTL SVTQPWYLEV DYTHEAVTIK
60 70 80 90 100
CTFSATGCPS EQPTCLWFRY GAHQPENLCL DGCKSEADKF TVREALKENQ
110 120 130 140 150
VSLTVNRVTS NDSAIYICGI AFPSVPEARA KQTGGGTTLV VREIKLLSKE
160 170 180 190 200
LRSFLTALVS LLSVYVTGVC VAFILLSKSK SNPLRNKEIK EDSQKKKSAR
210 220 230 240
RIFQEIAQEL YHKRHVETNQ QSEKDNNTYE NRRVLSNYER P
Length:241
Mass (Da):27,013
Last modified:February 26, 2008 - v2
Checksum:i1FA0637611138193
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti188 – 1881E → K in AAH17844 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741Q → R.1 Publication
Corresponds to variant rs17851574 [ dbSNP | Ensembl ].
VAR_039137
Natural varianti173 – 1731F → S.1 Publication
Corresponds to variant rs2290612 [ dbSNP | Ensembl ].
VAR_039138
Natural varianti186 – 1861N → K.2 Publications
Corresponds to variant rs1134034 [ dbSNP | Ensembl ].
VAR_039139

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ223183 mRNA. Translation: CAA11155.1.
BC017844 mRNA. Translation: AAH17844.1.
CCDSiCCDS10599.1.
RefSeqiNP_005840.2. NM_005849.3.
UniGeneiHs.530902.

Genome annotation databases

EnsembliENST00000268389; ENSP00000268389; ENSG00000140749.
GeneIDi10261.
KEGGihsa:10261.
UCSCiuc002djg.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ223183 mRNA. Translation: CAA11155.1.
BC017844 mRNA. Translation: AAH17844.1.
CCDSiCCDS10599.1.
RefSeqiNP_005840.2. NM_005849.3.
UniGeneiHs.530902.

3D structure databases

ProteinModelPortaliO95976.
SMRiO95976. Positions 31-144.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115553. 7 interactions.
IntActiO95976. 1 interaction.
STRINGi9606.ENSP00000268389.

PTM databases

iPTMnetiO95976.
PhosphoSiteiO95976.

Polymorphism and mutation databases

BioMutaiIGSF6.

Proteomic databases

EPDiO95976.
PaxDbiO95976.
PeptideAtlasiO95976.
PRIDEiO95976.

Protocols and materials databases

DNASUi10261.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268389; ENSP00000268389; ENSG00000140749.
GeneIDi10261.
KEGGihsa:10261.
UCSCiuc002djg.3. human.

Organism-specific databases

CTDi10261.
GeneCardsiIGSF6.
HGNCiHGNC:5953. IGSF6.
HPAiHPA041023.
HPA041072.
MIMi606222. gene.
neXtProtiNX_O95976.
PharmGKBiPA29766.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUPA. Eukaryota.
ENOG410Z30T. LUCA.
GeneTreeiENSGT00390000014131.
HOGENOMiHOG000113019.
HOVERGENiHBG098510.
InParanoidiO95976.
OMAiKDNTYEN.
OrthoDBiEOG7Z69DZ.
PhylomeDBiO95976.
TreeFamiTF335767.

Miscellaneous databases

GenomeRNAii10261.
PROiO95976.
SOURCEiSearch...

Gene expression databases

BgeeiO95976.
CleanExiHS_IGSF6.
ExpressionAtlasiO95976. baseline and differential.
GenevisibleiO95976. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013106. Ig_V-set.
[Graphical view]
PfamiPF07686. V-set. 1 hit.
[Graphical view]
SMARTiSM00406. IGv. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "CD40L activation of dendritic cells down-regulates DORA, a novel member of the immunoglobulin superfamily."
    Bates E.E.M., Dieu M.-C., Ravel O., Zurawski S.M., Patel S., Bridon J.-M., Ait-Yahia S., Vega F. Jr., Banchereau J., Lebecque S.
    Mol. Immunol. 35:513-524(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, INDUCTION, VARIANT LYS-186.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ARG-74.
    Tissue: Lung.
  3. "The mouse and human IGSF6 (DORA) genes map to the inflammatory bowel disease 1 locus and are embedded in an intron of a gene of unknown function."
    Bates E.E.M., Kissenpfennig A., Peronne C., Mattei M.-G., Fossiez F., Malissen B., Lebecque S.
    Immunogenetics 52:112-120(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH INFLAMMATORY BOWEL DISEASE LOCUS.
  4. Cited for: VARIANTS SER-173 AND LYS-186.

Entry informationi

Entry nameiIGSF6_HUMAN
AccessioniPrimary (citable) accession number: O95976
Secondary accession number(s): Q8WWD8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 26, 2008
Last modified: July 6, 2016
This is version 115 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

This gene is localized to a locus associated with inflammatory bowel disease. It is coded entirely within the intron of METTL9 which is transcribed in the opposite strand of the DNA.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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.