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P40200

- TACT_HUMAN

UniProt

P40200 - TACT_HUMAN

Protein

T-cell surface protein tactile

Gene

CD96

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 2 (04 Dec 2007)
      Previous versions | rss
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    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

    1. cell adhesion Source: ProtInc
    2. immune response Source: ProtInc
    3. regulation of immune response Source: Reactome

    Keywords - Biological processi

    Cell adhesion

    Enzyme and pathway databases

    ReactomeiREACT_11152. 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
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:16892. CD96.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    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.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti280 – 2801T → M in CSYN. 1 Publication
    VAR_037578

    Keywords - Diseasei

    Craniosynostosis, Disease mutation

    Organism-specific databases

    MIMi211750. phenotype.
    Orphaneti1308. C syndrome.
    PharmGKBiPA437.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 585564T-cell surface protein tactilePRO_0000014970Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi42 – 421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi45 ↔ 118Curated
    Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi148 – 1481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi156 – 1561N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi163 ↔ 247Curated
    Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi200 – 2001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi277 – 2771N-linked (GlcNAc...)1 Publication
    Glycosylationi278 – 2781N-linked (GlcNAc...)1 Publication
    Disulfide bondi290 ↔ 355Curated
    Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi350 – 3501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi368 – 3681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi435 – 4351N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi497 – 4971N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP40200.
    PRIDEiP40200.

    PTM databases

    PhosphoSiteiP40200.

    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

    ArrayExpressiP40200.
    BgeeiP40200.
    CleanExiHS_CD96.
    GenevestigatoriP40200.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    IntActiP40200. 1 interaction.
    STRINGi9606.ENSP00000283285.

    Structurei

    3D structure databases

    ProteinModelPortaliP40200.
    SMRiP40200. Positions 30-126, 216-361.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 519498ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini541 – 58545CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei520 – 54021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini38 – 12588Ig-like V-type 1Add
    BLAST
    Domaini156 – 23883Ig-like V-type 2Add
    BLAST
    Domaini269 – 375107Ig-like C2-typeAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi370 – 502133Pro/Ser/Thr-richAdd
    BLAST
    Compositional biasi554 – 56310Pro-rich

    Sequence similaritiesi

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG29658.
    HOGENOMiHOG000150673.
    HOVERGENiHBG004030.
    InParanoidiP40200.
    KOiK06517.
    OMAiVQMQWSK.
    OrthoDBiEOG74R1QD.
    PhylomeDBiP40200.
    TreeFamiTF336934.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view]
    SMARTiSM00409. IG. 2 hits.
    [Graphical view]
    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. Align

    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

    MEKKWKYCAV YYIIQIHFVK GVWEKTVNTE ENVYATLGSD VNLTCQTQTV    50
    GFFVQMQWSK VTNKIDLIAV YHPQYGFYCA YGRPCESLVT FTETPENGSK 100
    WTLHLRNMSC SVSGRYECML VLYPEGIQTK IYNLLIQTHV TADEWNSNHT 150
    IEIEINQTLE IPCFQNSSSK ISSEFTYAWS VENSSTDSWV LLSKGIKEDN 200
    GTQETLISQN HLISNSTLLK DRVKLGTDYR LHLSPVQIFD DGRKFSCHIR 250
    VGPNKILRSS TTVKVFAKPE IPVIVENNST DVLVERRFTC LLKNVFPKAN 300
    ITWFIDGSFL HDEKEGIYIT NEERKGKDGF LELKSVLTRV HSNKPAQSDN 350
    LTIWCMALSP VPGNKVWNIS SEKITFLLGS EISSTDPPLS VTESTLDTQP 400
    SPASSVSPAR YPATSSVTLV DVSALRPNTT PQPSNSSMTT RGFNYPWTSS 450
    GTDTKKSVSR IPSETYSSSP SGAGSTLHDN VFTSTARAFS EVPTTANGST 500
    KTNHVHITGI VVNKPKDGMS WPVIVAALLF CCMILFGLGV RKWCQYQKEI 550
    MERPPPFKPP PPPIKYTCIQ EPNESDLPYH EMETL 585
    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti142 – 1421A → P.
    Corresponds to variant rs2276872 [ dbSNP | Ensembl ].
    VAR_021928
    Natural varianti280 – 2801T → M in CSYN. 1 Publication
    VAR_037578

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei182 – 19716Missing in isoform 2. 1 PublicationVSP_029908Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human. [P40200-1]
    uc003dxx.3. human. [P40200-2]

    Polymorphism databases

    DMDMi161784352.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M88282 mRNA. Translation: AAA36662.1 .
    AL833681 mRNA. Translation: CAI46155.1 .
    CH471052 Genomic DNA. Translation: EAW79698.1 .
    CCDSi CCDS2958.1. [P40200-2 ]
    CCDS2959.1. [P40200-1 ]
    PIRi A46462.
    RefSeqi NP_005807.1. NM_005816.4. [P40200-2 ]
    NP_937839.1. NM_198196.2. [P40200-1 ]
    UniGenei Hs.142023.

    3D structure databases

    ProteinModelPortali P40200.
    SMRi P40200. Positions 30-126, 216-361.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi P40200. 1 interaction.
    STRINGi 9606.ENSP00000283285.

    PTM databases

    PhosphoSitei P40200.

    Polymorphism databases

    DMDMi 161784352.

    Proteomic databases

    PaxDbi P40200.
    PRIDEi P40200.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000283285 ; ENSP00000283285 ; ENSG00000153283 . [P40200-1 ]
    ENST00000352690 ; ENSP00000342040 ; ENSG00000153283 . [P40200-2 ]
    GeneIDi 10225.
    KEGGi hsa:10225.
    UCSCi uc003dxw.3. human. [P40200-1 ]
    uc003dxx.3. human. [P40200-2 ]

    Organism-specific databases

    CTDi 10225.
    GeneCardsi GC03P111012.
    HGNCi HGNC:16892. CD96.
    MIMi 211750. phenotype.
    606037. gene.
    neXtProti NX_P40200.
    Orphaneti 1308. C syndrome.
    PharmGKBi PA437.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29658.
    HOGENOMi HOG000150673.
    HOVERGENi HBG004030.
    InParanoidi P40200.
    KOi K06517.
    OMAi VQMQWSK.
    OrthoDBi EOG74R1QD.
    PhylomeDBi P40200.
    TreeFami TF336934.

    Enzyme and pathway databases

    Reactomei REACT_11152. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

    Miscellaneous databases

    GenomeRNAii 10225.
    NextBioi 38716.
    PROi P40200.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P40200.
    Bgeei P40200.
    CleanExi HS_CD96.
    Genevestigatori P40200.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    [Graphical view ]
    SMARTi SM00409. IG. 2 hits.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily."
      Wang P.L., O'Farrell S., Clayberger C., Krensky A.M.
      J. Immunol. 148:2600-2608(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lymph node.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155)."
      Fuchs A., Cella M., Giurisato E., Shaw A.S., Colonna M.
      J. Immunol. 172:3994-3998(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PVR.
    5. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
      Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-277 AND ASN-278.
      Tissue: Leukemic T-cell.
    6. "Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome."
      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.
      Am. J. Hum. Genet. 81:835-841(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CSYN MET-280.

    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: October 1, 2014
    This is version 132 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

    External Data

    Dasty 3