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Protein

T-cell surface protein tactile

Gene

CD96

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

Functioni

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.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153283-MONOMER.
ReactomeiR-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Names & Taxonomyi

Protein namesi
Recommended name:
T-cell surface protein tactile
Alternative name(s):
Cell surface antigen CD96
T cell-activated increased late expression protein
CD_antigen: CD96
Gene namesi
Name:CD96
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:16892. CD96.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 519ExtracellularSequence analysisAdd BLAST498
Transmembranei520 – 540HelicalSequence analysisAdd BLAST21
Topological domaini541 – 585CytoplasmicSequence analysisAdd BLAST45

GO - Cellular componenti

  • adherens junction Source: MGI
  • cytoplasm Source: MGI
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

C syndrome (CSYN)1 Publication
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.
Disease descriptionA 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.
See also OMIM:211750
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037578280T → M in CSYN. 1 PublicationCorresponds to variant rs119477056dbSNPEnsembl.1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi10225.
MalaCardsiCD96.
MIMi211750. phenotype.
OpenTargetsiENSG00000153283.
Orphaneti1308. C syndrome.
PharmGKBiPA437.

Polymorphism and mutation databases

BioMutaiCD96.
DMDMi161784352.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000001497022 – 585T-cell surface protein tactileAdd BLAST564

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi42N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi45 ↔ 118Curated
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi107N-linked (GlcNAc...)Sequence analysis1
Glycosylationi148N-linked (GlcNAc...)Sequence analysis1
Glycosylationi156N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi163 ↔ 247Curated
Glycosylationi166N-linked (GlcNAc...)Sequence analysis1
Glycosylationi200N-linked (GlcNAc...)Sequence analysis1
Glycosylationi215N-linked (GlcNAc...)Sequence analysis1
Glycosylationi277N-linked (GlcNAc...)1 Publication1
Glycosylationi278N-linked (GlcNAc...)1 Publication1
Disulfide bondi290 ↔ 355Curated
Glycosylationi300N-linked (GlcNAc...)Sequence analysis1
Glycosylationi350N-linked (GlcNAc...)Sequence analysis1
Glycosylationi368N-linked (GlcNAc...)Sequence analysis1
Glycosylationi435N-linked (GlcNAc...)Sequence analysis1
Glycosylationi497N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP40200.
PeptideAtlasiP40200.
PRIDEiP40200.

PTM databases

iPTMnetiP40200.
PhosphoSitePlusiP40200.
SwissPalmiP40200.

Expressioni

Tissue specificityi

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 stagei

Expressed at low levels on peripheral T-cells and is strongly up-regulated after activation, peaking 6 to 9 days after the activating stimulus.

Gene expression databases

BgeeiENSG00000153283.
CleanExiHS_CD96.
ExpressionAtlasiP40200. baseline and differential.
GenevisibleiP40200. HS.

Organism-specific databases

HPAiHPA066754.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Interacts with PVR.1 Publication

Protein-protein interaction databases

BioGridi115519. 14 interactors.
IntActiP40200. 1 interactor.
STRINGi9606.ENSP00000283285.

Structurei

3D structure databases

ProteinModelPortaliP40200.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini38 – 125Ig-like V-type 1Add BLAST88
Domaini156 – 238Ig-like V-type 2Add BLAST83
Domaini269 – 375Ig-like C2-typeAdd BLAST107

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi370 – 502Pro/Ser/Thr-richAdd BLAST133
Compositional biasi554 – 563Pro-rich10

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGTS. Eukaryota.
ENOG411142M. LUCA.
GeneTreeiENSGT00390000003446.
HOGENOMiHOG000150673.
HOVERGENiHBG004030.
InParanoidiP40200.
KOiK06517.
OMAiVQMQWSK.
OrthoDBiEOG091G065T.
PhylomeDBiP40200.
TreeFamiTF336934.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 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: P40200-1) [UniParc]FASTAAdd to basket

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
MEKKWKYCAV YYIIQIHFVK GVWEKTVNTE ENVYATLGSD VNLTCQTQTV
60 70 80 90 100
GFFVQMQWSK VTNKIDLIAV YHPQYGFYCA YGRPCESLVT FTETPENGSK
110 120 130 140 150
WTLHLRNMSC SVSGRYECML VLYPEGIQTK IYNLLIQTHV TADEWNSNHT
160 170 180 190 200
IEIEINQTLE IPCFQNSSSK ISSEFTYAWS VENSSTDSWV LLSKGIKEDN
210 220 230 240 250
GTQETLISQN HLISNSTLLK DRVKLGTDYR LHLSPVQIFD DGRKFSCHIR
260 270 280 290 300
VGPNKILRSS TTVKVFAKPE IPVIVENNST DVLVERRFTC LLKNVFPKAN
310 320 330 340 350
ITWFIDGSFL HDEKEGIYIT NEERKGKDGF LELKSVLTRV HSNKPAQSDN
360 370 380 390 400
LTIWCMALSP VPGNKVWNIS SEKITFLLGS EISSTDPPLS VTESTLDTQP
410 420 430 440 450
SPASSVSPAR YPATSSVTLV DVSALRPNTT PQPSNSSMTT RGFNYPWTSS
460 470 480 490 500
GTDTKKSVSR IPSETYSSSP SGAGSTLHDN VFTSTARAFS EVPTTANGST
510 520 530 540 550
KTNHVHITGI VVNKPKDGMS WPVIVAALLF CCMILFGLGV RKWCQYQKEI
560 570 580
MERPPPFKPP PPPIKYTCIQ EPNESDLPYH EMETL
Length:585
Mass (Da):65,634
Last modified:December 4, 2007 - v2
Checksum:i2C00C2971CAB13EE
GO
Isoform 2 (identifier: P40200-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     182-197: Missing.

Show »
Length:569
Mass (Da):63,888
Checksum:iDF2F3BEE356F3BF2
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021928142A → P.Corresponds to variant rs2276872dbSNPEnsembl.1
Natural variantiVAR_037578280T → M in CSYN. 1 PublicationCorresponds to variant rs119477056dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029908182 – 197Missing in isoform 2. 1 PublicationAdd BLAST16

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88282 mRNA. Translation: AAA36662.1.
AL833681 mRNA. Translation: CAI46155.1.
CH471052 Genomic DNA. Translation: EAW79698.1.
CCDSiCCDS2958.1. [P40200-2]
CCDS2959.1. [P40200-1]
PIRiA46462.
RefSeqiNP_005807.1. NM_005816.4. [P40200-2]
NP_937839.1. NM_198196.2. [P40200-1]
UniGeneiHs.142023.

Genome annotation databases

EnsembliENST00000283285; ENSP00000283285; ENSG00000153283. [P40200-1]
ENST00000352690; ENSP00000342040; ENSG00000153283. [P40200-2]
GeneIDi10225.
KEGGihsa:10225.
UCSCiuc003dxw.4. human. [P40200-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M88282 mRNA. Translation: AAA36662.1.
AL833681 mRNA. Translation: CAI46155.1.
CH471052 Genomic DNA. Translation: EAW79698.1.
CCDSiCCDS2958.1. [P40200-2]
CCDS2959.1. [P40200-1]
PIRiA46462.
RefSeqiNP_005807.1. NM_005816.4. [P40200-2]
NP_937839.1. NM_198196.2. [P40200-1]
UniGeneiHs.142023.

3D structure databases

ProteinModelPortaliP40200.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115519. 14 interactors.
IntActiP40200. 1 interactor.
STRINGi9606.ENSP00000283285.

PTM databases

iPTMnetiP40200.
PhosphoSitePlusiP40200.
SwissPalmiP40200.

Polymorphism and mutation databases

BioMutaiCD96.
DMDMi161784352.

Proteomic databases

PaxDbiP40200.
PeptideAtlasiP40200.
PRIDEiP40200.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283285; ENSP00000283285; ENSG00000153283. [P40200-1]
ENST00000352690; ENSP00000342040; ENSG00000153283. [P40200-2]
GeneIDi10225.
KEGGihsa:10225.
UCSCiuc003dxw.4. human. [P40200-1]

Organism-specific databases

CTDi10225.
DisGeNETi10225.
GeneCardsiCD96.
HGNCiHGNC:16892. CD96.
HPAiHPA066754.
MalaCardsiCD96.
MIMi211750. phenotype.
606037. gene.
neXtProtiNX_P40200.
OpenTargetsiENSG00000153283.
Orphaneti1308. C syndrome.
PharmGKBiPA437.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGTS. Eukaryota.
ENOG411142M. LUCA.
GeneTreeiENSGT00390000003446.
HOGENOMiHOG000150673.
HOVERGENiHBG004030.
InParanoidiP40200.
KOiK06517.
OMAiVQMQWSK.
OrthoDBiEOG091G065T.
PhylomeDBiP40200.
TreeFamiTF336934.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000153283-MONOMER.
ReactomeiR-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

Miscellaneous databases

GenomeRNAii10225.
PROiP40200.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153283.
CleanExiHS_CD96.
ExpressionAtlasiP40200. baseline and differential.
GenevisibleiP40200. HS.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTACT_HUMAN
AccessioniPrimary (citable) accession number: P40200
Secondary accession number(s): Q5JPB3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: December 4, 2007
Last modified: November 30, 2016
This is version 153 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 3
    Human chromosome 3: 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.