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T-cell surface protein tactile (Cell surface antigen CD96) (T cell-activated increased late expression protein) (CD antigen CD96)

 TACT_HUMAN              Reviewed;         585 AA.
P40200; Q5JPB3;
01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
04-DEC-2007, sequence version 2.
27-SEP-2017, entry version 158.
RecName: Full=T-cell surface protein tactile;
AltName: Full=Cell surface antigen CD96;
AltName: Full=T cell-activated increased late expression protein;
AltName: CD_antigen=CD96;
Flags: Precursor;
Name=CD96;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
PubMed=1313846;
Wang P.L., O'Farrell S., Clayberger C., Krensky A.M.;
"Identification and molecular cloning of tactile. A novel human T cell
activation antigen that is a member of the Ig gene superfamily.";
J. Immunol. 148:2600-2608(1992).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Lymph node;
PubMed=17974005; DOI=10.1186/1471-2164-8-399;
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
"The full-ORF clone resource of the German cDNA consortium.";
BMC Genomics 8:399-399(2007).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[4]
INTERACTION WITH PVR.
PubMed=15034010; DOI=10.4049/jimmunol.172.7.3994;
Fuchs A., Cella M., Giurisato E., Shaw A.S., Colonna M.;
"CD96 (tactile) promotes NK cell-target cell adhesion by interacting
with the poliovirus receptor (CD155).";
J. Immunol. 172:3994-3998(2004).
[5]
GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-277 AND ASN-278.
TISSUE=Leukemic T-cell;
PubMed=19349973; DOI=10.1038/nbt.1532;
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
Schiess R., Aebersold R., Watts J.D.;
"Mass-spectrometric identification and relative quantification of N-
linked cell surface glycoproteins.";
Nat. Biotechnol. 27:378-386(2009).
[6]
VARIANT CSYN MET-280.
PubMed=17847009; DOI=10.1086/522014;
Kaname T., Yanagi K., Chinen Y., Makita Y., Okamoto N., Maehara H.,
Owan I., Kanaya F., Kubota Y., Oike Y., Yamamoto T., Kurosawa K.,
Fukushima Y., Bohring A., Opitz J.M., Yoshiura K., Niikawa N.,
Naritomi K.;
"Mutations in CD96, a member of the immunoglobulin superfamily, cause
a form of the C (Opitz trigonocephaly) syndrome.";
Am. J. Hum. Genet. 81:835-841(2007).
-!- FUNCTION: May be involved in adhesive interactions of activated T
and NK cells during the late phase of the immune response.
Promotes NK cell-target adhesion by interacting with PVR present
on target cells. May function at a time after T and NK cells have
penetrated the endothelium using integrins and selectins, when
they are actively engaging diseased cells and moving within areas
of inflammation.
-!- SUBUNIT: Homodimer; disulfide-linked. Interacts with PVR.
{ECO:0000269|PubMed:15034010}.
-!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P40200-1; Sequence=Displayed;
Name=2;
IsoId=P40200-2; Sequence=VSP_029908;
-!- TISSUE SPECIFICITY: Expressed on normal T-cell lines and clones,
and some transformed T-cells, but no other cultured cell lines
tested. It is expressed at very low levels on activated B-cells.
-!- DEVELOPMENTAL STAGE: Expressed at low levels on peripheral T-cells
and is strongly up-regulated after activation, peaking 6 to 9 days
after the activating stimulus.
-!- DISEASE: C syndrome (CSYN) [MIM:211750]: A syndrome characterized
by trigonocephaly, severe mental retardation, hypotonia, variable
cardiac defects, redundant skin, and dysmorphic facial features,
including upslanted palpebral fissures, epicanthal folds,
depressed nasal bridge, and low-set, posteriorly rotated ears.
{ECO:0000269|PubMed:17847009}. Note=The disease is caused by
mutations affecting the gene represented in this entry. A
chromosomal aberration involving CD96 has been found in a patient
with C syndrome. Translocation t(3;18)(q13.13;q12.1). CD96 gene
was located at the 3q13.13 breakpoint. Precise structural analysis
around the breakpoint showed that the gene was disrupted by the
translocation in exon 5, probably leading to premature termination
or loss of expression of CD96 protein. No gene was detected at the
chromosome 18 breakpoint.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; M88282; AAA36662.1; -; mRNA.
EMBL; AL833681; CAI46155.1; -; mRNA.
EMBL; CH471052; EAW79698.1; -; Genomic_DNA.
CCDS; CCDS2958.1; -. [P40200-2]
CCDS; CCDS2959.1; -. [P40200-1]
PIR; A46462; A46462.
RefSeq; NP_005807.1; NM_005816.4. [P40200-2]
RefSeq; NP_937839.1; NM_198196.2. [P40200-1]
UniGene; Hs.142023; -.
ProteinModelPortal; P40200; -.
SMR; P40200; -.
BioGrid; 115519; 14.
IntAct; P40200; 1.
STRING; 9606.ENSP00000283285; -.
iPTMnet; P40200; -.
PhosphoSitePlus; P40200; -.
SwissPalm; P40200; -.
BioMuta; CD96; -.
DMDM; 161784352; -.
PaxDb; P40200; -.
PeptideAtlas; P40200; -.
PRIDE; P40200; -.
Ensembl; ENST00000283285; ENSP00000283285; ENSG00000153283. [P40200-1]
Ensembl; ENST00000352690; ENSP00000342040; ENSG00000153283. [P40200-2]
GeneID; 10225; -.
KEGG; hsa:10225; -.
UCSC; uc003dxw.4; human. [P40200-1]
CTD; 10225; -.
DisGeNET; 10225; -.
EuPathDB; HostDB:ENSG00000153283.12; -.
GeneCards; CD96; -.
HGNC; HGNC:16892; CD96.
HPA; HPA066754; -.
MalaCards; CD96; -.
MIM; 211750; phenotype.
MIM; 606037; gene.
neXtProt; NX_P40200; -.
OpenTargets; ENSG00000153283; -.
Orphanet; 1308; C syndrome.
PharmGKB; PA437; -.
eggNOG; ENOG410IGTS; Eukaryota.
eggNOG; ENOG411142M; LUCA.
GeneTree; ENSGT00390000003446; -.
HOGENOM; HOG000150673; -.
HOVERGEN; HBG004030; -.
InParanoid; P40200; -.
KO; K06517; -.
OMA; VQMQWSK; -.
OrthoDB; EOG091G065T; -.
PhylomeDB; P40200; -.
TreeFam; TF336934; -.
Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
GenomeRNAi; 10225; -.
PRO; PR:P40200; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000153283; -.
CleanEx; HS_CD96; -.
ExpressionAtlas; P40200; baseline and differential.
Genevisible; P40200; HS.
GO; GO:0005912; C:adherens junction; IDA:MGI.
GO; GO:0005737; C:cytoplasm; IDA:MGI.
GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
GO; GO:0007160; P:cell-matrix adhesion; IDA:MGI.
GO; GO:0002534; P:cytokine production involved in inflammatory response; IEA:Ensembl.
GO; GO:0006955; P:immune response; TAS:ProtInc.
GO; GO:0032689; P:negative regulation of interferon-gamma production; IEA:Ensembl.
GO; GO:0002728; P:negative regulation of natural killer cell cytokine production; IEA:Ensembl.
GO; GO:0050776; P:regulation of immune response; TAS:Reactome.
GO; GO:0032496; P:response to lipopolysaccharide; IEA:Ensembl.
Gene3D; 2.60.40.10; -; 3.
InterPro; IPR007110; Ig-like_dom.
InterPro; IPR013783; Ig-like_fold.
InterPro; IPR003599; Ig_sub.
SMART; SM00409; IG; 2.
SUPFAM; SSF48726; SSF48726; 1.
PROSITE; PS50835; IG_LIKE; 1.
1: Evidence at protein level;
Alternative splicing; Cell adhesion; Chromosomal rearrangement;
Complete proteome; Craniosynostosis; Disease mutation; Disulfide bond;
Glycoprotein; Immunoglobulin domain; Membrane; Polymorphism;
Reference proteome; Repeat; Signal; Transmembrane;
Transmembrane helix.
SIGNAL 1 21 {ECO:0000255}.
CHAIN 22 585 T-cell surface protein tactile.
/FTId=PRO_0000014970.
TOPO_DOM 22 519 Extracellular. {ECO:0000255}.
TRANSMEM 520 540 Helical. {ECO:0000255}.
TOPO_DOM 541 585 Cytoplasmic. {ECO:0000255}.
DOMAIN 38 125 Ig-like V-type 1.
DOMAIN 156 238 Ig-like V-type 2.
DOMAIN 269 375 Ig-like C2-type.
COMPBIAS 370 502 Pro/Ser/Thr-rich.
COMPBIAS 554 563 Pro-rich.
CARBOHYD 42 42 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 97 97 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 107 107 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 148 148 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 156 156 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 166 166 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 200 200 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 215 215 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 277 277 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19349973}.
CARBOHYD 278 278 N-linked (GlcNAc...) asparagine.
{ECO:0000269|PubMed:19349973}.
CARBOHYD 300 300 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 350 350 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 368 368 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 435 435 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 497 497 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 45 118 {ECO:0000305}.
DISULFID 163 247 {ECO:0000305}.
DISULFID 290 355 {ECO:0000305}.
VAR_SEQ 182 197 Missing (in isoform 2).
{ECO:0000303|PubMed:1313846}.
/FTId=VSP_029908.
VARIANT 142 142 A -> P (in dbSNP:rs2276872).
/FTId=VAR_021928.
VARIANT 280 280 T -> M (in CSYN; dbSNP:rs119477056).
{ECO:0000269|PubMed:17847009}.
/FTId=VAR_037578.
SEQUENCE 585 AA; 65634 MW; 2C00C2971CAB13EE CRC64;
MEKKWKYCAV YYIIQIHFVK GVWEKTVNTE ENVYATLGSD VNLTCQTQTV GFFVQMQWSK
VTNKIDLIAV YHPQYGFYCA YGRPCESLVT FTETPENGSK WTLHLRNMSC SVSGRYECML
VLYPEGIQTK IYNLLIQTHV TADEWNSNHT IEIEINQTLE IPCFQNSSSK ISSEFTYAWS
VENSSTDSWV LLSKGIKEDN GTQETLISQN HLISNSTLLK DRVKLGTDYR LHLSPVQIFD
DGRKFSCHIR VGPNKILRSS TTVKVFAKPE IPVIVENNST DVLVERRFTC LLKNVFPKAN
ITWFIDGSFL HDEKEGIYIT NEERKGKDGF LELKSVLTRV HSNKPAQSDN LTIWCMALSP
VPGNKVWNIS SEKITFLLGS EISSTDPPLS VTESTLDTQP SPASSVSPAR YPATSSVTLV
DVSALRPNTT PQPSNSSMTT RGFNYPWTSS GTDTKKSVSR IPSETYSSSP SGAGSTLHDN
VFTSTARAFS EVPTTANGST KTNHVHITGI VVNKPKDGMS WPVIVAALLF CCMILFGLGV
RKWCQYQKEI MERPPPFKPP PPPIKYTCIQ EPNESDLPYH EMETL


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