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O60880

- SH21A_HUMAN

UniProt

O60880 - SH21A_HUMAN

Protein

SH2 domain-containing protein 1A

Gene

SH2D1A

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

    Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. SH3/SH2 adaptor activity Source: UniProtKB

    GO - Biological processi

    1. cell-cell signaling Source: UniProtKB
    2. cellular defense response Source: UniProtKB
    3. humoral immune response Source: Ensembl
    4. positive regulation of natural killer cell mediated cytotoxicity Source: Ensembl
    5. positive regulation of signal transduction Source: GOC

    Enzyme and pathway databases

    SignaLinkiO60880.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SH2 domain-containing protein 1A
    Alternative name(s):
    Duncan disease SH2-protein
    Signaling lymphocytic activation molecule-associated protein
    Short name:
    SLAM-associated protein
    T-cell signal transduction molecule SAP
    Gene namesi
    Name:SH2D1A
    Synonyms:DSHP, SAP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:10820. SH2D1A.

    Subcellular locationi

    Cytoplasm Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1. 1 Publication
    VAR_048005
    Natural varianti8 – 81H → D in XLP1. 1 Publication
    VAR_048006
    Natural varianti16 – 161G → D in XLP1; abolishes interaction with SLAMF1. 1 Publication
    VAR_048007
    Natural varianti27 – 271G → S in XLP1. 1 Publication
    VAR_048008
    Natural varianti28 – 281S → R in XLP1; reduced protein stability. 1 Publication
    VAR_048009
    Natural varianti31 – 311L → P in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 1 Publication
    VAR_048010
    Natural varianti32 – 321R → T in XLP1. 2 Publications
    VAR_005612
    Natural varianti33 – 331D → Y in XLP1. 1 Publication
    VAR_048011
    Natural varianti42 – 421C → W in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1. 1 Publication
    VAR_048012
    Natural varianti49 – 491G → V in XLP1. 1 Publication
    VAR_048013
    Natural varianti53 – 531T → I in XLP1; loss of interaction with CD84; loss of interaction with non-phosphorylated SLAMF1. 1 Publication
    VAR_048014
    Natural varianti54 – 541Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications
    VAR_048015
    Natural varianti55 – 551R → L in XLP1; reduced affinity for SLAMF1 and FYN. 1 Publication
    VAR_018307
    Natural varianti57 – 571S → P in one XLP1 patient; unknown pathological significance. 1 Publication
    VAR_048016
    Natural varianti68 – 681T → I in XLP1; loss of interaction with CD84; strongly reduced affinity for SLAMF1. 1 Publication
    VAR_005613
    Natural varianti84 – 841I → T in XLP1; reduced protein stability. 1 Publication
    VAR_048017
    Natural varianti87 – 871F → S in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications
    VAR_048018
    Natural varianti99 – 991Q → P in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1. 1 Publication
    VAR_048019
    Natural varianti101 – 1011P → L in XLP1; reduced protein stability and reduced affinity for SLAMF1. 1 Publication
    Corresponds to variant rs28935184 [ dbSNP | Ensembl ].
    VAR_005614
    Natural varianti102 – 1021V → G in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1. 1 Publication
    VAR_048020

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi32 – 321R → Q: Strongly reduced affinity for SLAMF1. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi308240. phenotype.
    Orphaneti2442. X-linked lymphoproliferative disease.
    PharmGKBiPA35728.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 128128SH2 domain-containing protein 1APRO_0000097722Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei89 – 891N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO60880.
    PaxDbiO60880.
    PRIDEiO60880.

    PTM databases

    PhosphoSiteiO60880.

    Expressioni

    Tissue specificityi

    Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis.1 Publication

    Gene expression databases

    BgeeiO60880.
    CleanExiHS_SH2D1A.
    GenevestigatoriO60880.

    Interactioni

    Subunit structurei

    Interacts with NTRK1, NTRK2 and NTRK3 By similarity. Interacts with CD84, CD244, LY9, SLAMF1 and FYN.By similarity5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARHGEF6Q150522EBI-6983382,EBI-1642523
    ARHGEF7Q141556EBI-6983382,EBI-717515
    FYNP062412EBI-6983382,EBI-515315
    METP085813EBI-6983382,EBI-1039152
    SLAMF1Q1329111EBI-6983382,EBI-4315002

    Protein-protein interaction databases

    BioGridi110246. 15 interactions.
    IntActiO60880. 16 interactions.
    MINTiMINT-113697.
    STRINGi9606.ENSP00000360181.

    Structurei

    Secondary structure

    1
    128
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi5 – 73
    Helixi13 – 2311
    Beta strandi28 – 336
    Beta strandi35 – 373
    Beta strandi41 – 477
    Beta strandi50 – 589
    Beta strandi64 – 663
    Beta strandi77 – 793
    Helixi80 – 878
    Beta strandi89 – 968

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1D1ZX-ray1.40A/B/C/D1-104[»]
    1D4TX-ray1.10A1-104[»]
    1D4WX-ray1.80A/B1-104[»]
    1KA6NMR-A1-128[»]
    1KA7NMR-A1-128[»]
    1M27X-ray2.50A1-104[»]
    ProteinModelPortaliO60880.
    SMRiO60880. Positions 1-104.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO60880.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini6 – 10499SH2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SH2 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    SH2 domain

    Phylogenomic databases

    eggNOGiNOG298713.
    HOVERGENiHBG003702.
    InParanoidiO60880.
    KOiK07990.
    OMAiQGIAMPL.
    OrthoDBiEOG72VH86.
    PhylomeDBiO60880.
    TreeFamiTF343096.

    Family and domain databases

    Gene3Di3.30.505.10. 1 hit.
    InterProiIPR000980. SH2.
    IPR017289. SH2_prot_1A.
    [Graphical view]
    PfamiPF00017. SH2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037828. SH2_p1A. 1 hit.
    PRINTSiPR00401. SH2DOMAIN.
    SMARTiSM00252. SH2. 1 hit.
    [Graphical view]
    SUPFAMiSSF55550. SSF55550. 1 hit.
    PROSITEiPS50001. SH2. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: O60880-1) [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

    MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY    50
    IYTYRVSQTE TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY 100
    PVEKKSSARS TQGTTGIRED PDVCLKAP 128
    Length:128
    Mass (Da):14,187
    Last modified:August 1, 1998 - v1
    Checksum:i90234E7A6614EE3D
    GO
    Isoform B (identifier: O60880-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         68-128: TAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP → HFRSQIKA

    Show »
    Length:75
    Mass (Da):8,392
    Checksum:i49A81B180192072A
    GO
    Isoform C (identifier: O60880-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         47-128: YHGYIYTYRV...EDPDVCLKAP → QHLGYIKDISGK

    Show »
    Length:58
    Mass (Da):6,284
    Checksum:i39720893ACB3518A
    GO
    Isoform D (identifier: O60880-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         114-116: Missing.

    Show »
    Length:125
    Mass (Da):13,928
    Checksum:i1E5EE8978D67E5D6
    GO
    Isoform E (identifier: O60880-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         40-128: VYCLCVLYHG...EDPDVCLKAP → ITVTFIHTEC...RHCNTSAVSS

    Show »
    Length:76
    Mass (Da):8,188
    Checksum:i5BA2292A94518C00
    GO
    Isoform F (identifier: O60880-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         47-128: YHGYIYTYRV...EDPDVCLKAP → ISEARSRHCNTSAVSS

    Show »
    Length:62
    Mass (Da):6,631
    Checksum:i51B125509F7EB9C4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti7 – 71Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1. 1 Publication
    VAR_048005
    Natural varianti8 – 81H → D in XLP1. 1 Publication
    VAR_048006
    Natural varianti16 – 161G → D in XLP1; abolishes interaction with SLAMF1. 1 Publication
    VAR_048007
    Natural varianti27 – 271G → S in XLP1. 1 Publication
    VAR_048008
    Natural varianti28 – 281S → R in XLP1; reduced protein stability. 1 Publication
    VAR_048009
    Natural varianti31 – 311L → P in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 1 Publication
    VAR_048010
    Natural varianti32 – 321R → T in XLP1. 2 Publications
    VAR_005612
    Natural varianti33 – 331D → Y in XLP1. 1 Publication
    VAR_048011
    Natural varianti42 – 421C → W in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1. 1 Publication
    VAR_048012
    Natural varianti49 – 491G → V in XLP1. 1 Publication
    VAR_048013
    Natural varianti53 – 531T → I in XLP1; loss of interaction with CD84; loss of interaction with non-phosphorylated SLAMF1. 1 Publication
    VAR_048014
    Natural varianti54 – 541Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications
    VAR_048015
    Natural varianti55 – 551R → L in XLP1; reduced affinity for SLAMF1 and FYN. 1 Publication
    VAR_018307
    Natural varianti57 – 571S → P in one XLP1 patient; unknown pathological significance. 1 Publication
    VAR_048016
    Natural varianti68 – 681T → I in XLP1; loss of interaction with CD84; strongly reduced affinity for SLAMF1. 1 Publication
    VAR_005613
    Natural varianti84 – 841I → T in XLP1; reduced protein stability. 1 Publication
    VAR_048017
    Natural varianti87 – 871F → S in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications
    VAR_048018
    Natural varianti99 – 991Q → P in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1. 1 Publication
    VAR_048019
    Natural varianti101 – 1011P → L in XLP1; reduced protein stability and reduced affinity for SLAMF1. 1 Publication
    Corresponds to variant rs28935184 [ dbSNP | Ensembl ].
    VAR_005614
    Natural varianti102 – 1021V → G in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1. 1 Publication
    VAR_048020

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei40 – 12889VYCLC…CLKAP → ITVTFIHTECPRQKQVLGVL SISEARSRHCNTSAVSS in isoform E. CuratedVSP_004388Add
    BLAST
    Alternative sequencei47 – 12882YHGYI…CLKAP → QHLGYIKDISGK in isoform C. CuratedVSP_004387Add
    BLAST
    Alternative sequencei47 – 12882YHGYI…CLKAP → ISEARSRHCNTSAVSS in isoform F. CuratedVSP_004389Add
    BLAST
    Alternative sequencei68 – 12861TAPGV…CLKAP → HFRSQIKA in isoform B. CuratedVSP_004386Add
    BLAST
    Alternative sequencei114 – 1163Missing in isoform D. CuratedVSP_004390

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL023657 mRNA. Translation: CAA19222.1.
    AF073019 mRNA. Translation: AAC62631.1.
    AF072930 mRNA. Translation: AAC62630.1.
    AB586694 mRNA. Translation: BAJ19023.1.
    AF100539 mRNA. Translation: AAC79712.1.
    AF100540 mRNA. Translation: AAC79713.1.
    AF100541 mRNA. Translation: AAC79714.1.
    AF100542 mRNA. Translation: AAC79715.1.
    AF100543 mRNA. Translation: AAC79716.1.
    AK311911 mRNA. Translation: BAG34852.1.
    CR542031 mRNA. Translation: CAG46828.1.
    CR542043 mRNA. Translation: CAG46840.1.
    AL022718 Genomic DNA. Translation: CAA18777.1.
    CH471107 Genomic DNA. Translation: EAX11848.1.
    CH471107 Genomic DNA. Translation: EAX11849.1.
    BC020732 mRNA. Translation: AAH20732.1.
    CCDSiCCDS14608.1. [O60880-1]
    CCDS48162.1. [O60880-4]
    RefSeqiNP_001108409.1. NM_001114937.2. [O60880-4]
    NP_002342.1. NM_002351.4. [O60880-1]
    UniGeneiHs.349094.

    Genome annotation databases

    EnsembliENST00000360027; ENSP00000353126; ENSG00000183918. [O60880-4]
    ENST00000371139; ENSP00000360181; ENSG00000183918. [O60880-1]
    ENST00000477673; ENSP00000477094; ENSG00000183918. [O60880-5]
    GeneIDi4068.
    KEGGihsa:4068.
    UCSCiuc004euf.4. human. [O60880-1]
    uc004euh.4. human. [O60880-4]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    SH2D1Abase

    SH2D1A mutation db

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL023657 mRNA. Translation: CAA19222.1 .
    AF073019 mRNA. Translation: AAC62631.1 .
    AF072930 mRNA. Translation: AAC62630.1 .
    AB586694 mRNA. Translation: BAJ19023.1 .
    AF100539 mRNA. Translation: AAC79712.1 .
    AF100540 mRNA. Translation: AAC79713.1 .
    AF100541 mRNA. Translation: AAC79714.1 .
    AF100542 mRNA. Translation: AAC79715.1 .
    AF100543 mRNA. Translation: AAC79716.1 .
    AK311911 mRNA. Translation: BAG34852.1 .
    CR542031 mRNA. Translation: CAG46828.1 .
    CR542043 mRNA. Translation: CAG46840.1 .
    AL022718 Genomic DNA. Translation: CAA18777.1 .
    CH471107 Genomic DNA. Translation: EAX11848.1 .
    CH471107 Genomic DNA. Translation: EAX11849.1 .
    BC020732 mRNA. Translation: AAH20732.1 .
    CCDSi CCDS14608.1. [O60880-1 ]
    CCDS48162.1. [O60880-4 ]
    RefSeqi NP_001108409.1. NM_001114937.2. [O60880-4 ]
    NP_002342.1. NM_002351.4. [O60880-1 ]
    UniGenei Hs.349094.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1D1Z X-ray 1.40 A/B/C/D 1-104 [» ]
    1D4T X-ray 1.10 A 1-104 [» ]
    1D4W X-ray 1.80 A/B 1-104 [» ]
    1KA6 NMR - A 1-128 [» ]
    1KA7 NMR - A 1-128 [» ]
    1M27 X-ray 2.50 A 1-104 [» ]
    ProteinModelPortali O60880.
    SMRi O60880. Positions 1-104.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110246. 15 interactions.
    IntActi O60880. 16 interactions.
    MINTi MINT-113697.
    STRINGi 9606.ENSP00000360181.

    Chemistry

    ChEMBLi CHEMBL2321636.

    PTM databases

    PhosphoSitei O60880.

    Proteomic databases

    MaxQBi O60880.
    PaxDbi O60880.
    PRIDEi O60880.

    Protocols and materials databases

    DNASUi 4068.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360027 ; ENSP00000353126 ; ENSG00000183918 . [O60880-4 ]
    ENST00000371139 ; ENSP00000360181 ; ENSG00000183918 . [O60880-1 ]
    ENST00000477673 ; ENSP00000477094 ; ENSG00000183918 . [O60880-5 ]
    GeneIDi 4068.
    KEGGi hsa:4068.
    UCSCi uc004euf.4. human. [O60880-1 ]
    uc004euh.4. human. [O60880-4 ]

    Organism-specific databases

    CTDi 4068.
    GeneCardsi GC0XP123480.
    GeneReviewsi SH2D1A.
    HGNCi HGNC:10820. SH2D1A.
    MIMi 300490. gene.
    308240. phenotype.
    neXtProti NX_O60880.
    Orphaneti 2442. X-linked lymphoproliferative disease.
    PharmGKBi PA35728.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG298713.
    HOVERGENi HBG003702.
    InParanoidi O60880.
    KOi K07990.
    OMAi QGIAMPL.
    OrthoDBi EOG72VH86.
    PhylomeDBi O60880.
    TreeFami TF343096.

    Enzyme and pathway databases

    SignaLinki O60880.

    Miscellaneous databases

    EvolutionaryTracei O60880.
    GeneWikii SH2D1A.
    GenomeRNAii 4068.
    NextBioi 15948.
    PROi O60880.
    SOURCEi Search...

    Gene expression databases

    Bgeei O60880.
    CleanExi HS_SH2D1A.
    Genevestigatori O60880.

    Family and domain databases

    Gene3Di 3.30.505.10. 1 hit.
    InterProi IPR000980. SH2.
    IPR017289. SH2_prot_1A.
    [Graphical view ]
    Pfami PF00017. SH2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037828. SH2_p1A. 1 hit.
    PRINTSi PR00401. SH2DOMAIN.
    SMARTi SM00252. SH2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55550. SSF55550. 1 hit.
    PROSITEi PS50001. SH2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS XLP1 THR-32; ILE-68 AND LEU-101.
    2. "The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM."
      Sayos J., Wu C., Morra M., Wang N., Zhang X., Allen D., van Schaik S., Notarangelo L., Geha R., Roncarolo M.G., Oettgen H., de Vries J.E., Aversa G., Terhorst C.
      Nature 395:462-469(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis."
      Takei M., Ishiwata T., Mitamura K., Fujiwara S., Sasaki K., Nishi T., Kuga T., Ookubo T., Horie T., Ryu J., Ohi H., Sawada S.
      Int. Immunol. 13:559-565(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    4. "The Duncan's disease gene is preferentially expressed in lymphoid cell lineages and undergoes high levels of alternative splicing."
      Amemiya C.T., Halevi A.
      Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORM A).
      Tissue: Lung.
    10. "Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP."
      Sayos J., Martin M., Chen A., Simarro M., Howie D., Morra M., Engel P., Terhorst C.
      Blood 97:3867-3874(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CD84.
    11. "CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2."
      Tangye S.G., van de Weerdt B.C.M., Avery D.T., Hodgkin P.D.
      Eur. J. Immunol. 32:1640-1649(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH CD84.
    12. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-89, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition."
      Poy F., Yaffe M.B., Sayos J., Saxena K., Morra M., Sumegi J., Cantley L.C., Terhorst C., Eck M.J.
      Mol. Cell 4:555-561(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.1 ANGSTROMS) OF 1-104.
    14. "A 'three-pronged' binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome."
      Hwang P.M., Li C., Morra M., Lillywhite J., Muhandiram D.R., Gertler F., Terhorst C., Kay L.E., Pawson T., Forman-Kay J.D., Li S.-C.
      EMBO J. 21:314-323(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR IN COMPLEX WITH SLAMF1, CHARACTERIZATION OF VARIANTS XLP1 CYS-7; ARG-28; ILE-53; ILE-68; PRO-99; LEU-101 AND GLY-102, MUTAGENESIS OF ARG-32.
    15. Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 1-104 IN COMPLEX WITH SLAMF1 AND FYN.
    16. Cited for: VARIANT XLP1 THR-32.
    17. "Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease."
      Sumegi J., Huang D., Lanyi A., Davis J.D., Seemayer T.A., Maeda A., Klein G., Seri M., Wakiguchi H., Purtilo D.T., Gross T.G.
      Blood 96:3118-3125(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XLP1 CYS-7; ARG-28; PRO-31; TRP-42; ILE-53; CYS-54; SER-87; PRO-99 AND GLY-102.
    18. "Defective NK cell activation in X-linked lymphoproliferative disease."
      Benoit L., Wang X., Pabst H.F., Dutz J., Tan R.
      J. Immunol. 165:3549-3553(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XLP1 LEU-55.
    19. "SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses."
      Sumazaki R., Kanegane H., Osaki M., Fukushima T., Tsuchida M., Matsukura H., Shinozaki K., Kimura H., Matsui A., Miyawaki T.
      Blood 98:1268-1270(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XLP1 ASP-8; SER-27; TYR-33 AND VAL-49.
    20. "Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients."
      Morra M., Simarro-Grande M., Martin M., Chen A.S.-I., Lanyi A., Silander O., Calpe S., Davis J., Pawson T., Eck M.J., Sumegi J., Engel P., Li S.-C., Terhorst C.
      J. Biol. Chem. 276:36809-36816(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS XLP1 CYS-7; ARG-28; TRP-42; ILE-53; ILE-68; PRO-99; LEU-101 AND GLY-102, INTERACTION WITH CD244; SLAMF1; CD84 AND LY9.
    21. "Disease-causing SAP mutants are defective in ligand binding and protein folding."
      Li C., Iosef C., Jia C.Y.H., Gkourasas T., Han V.K.M., Li S.-C.
      Biochemistry 42:14885-14892(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS XLP1 PRO-31; CYS-54; LEU-55 AND SER-87.
    22. "Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein."
      Halasa N.B., Whitlock J.A., McCurley T.L., Smith J.A., Zhu Q., Ochs H., Dermody T.S., Crowe J.E. Jr.
      Clin. Infect. Dis. 37:E136-E141(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PRO-57.
    23. "Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease."
      Erdos M., Uzvoelgyi E., Nemes Z., Toeroek O., Rakoczi E., Went-Suemegi N., Suemegi J., Marodi L.
      Hum. Mutat. 25:506-506(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT XLP1 ASP-16, CHARACTERIZATION OF VARIANT XLP1 ASP-16.
    24. "Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP."
      Hare N.J., Ma C.S., Alvaro F., Nichols K.E., Tangye S.G.
      Int. Immunol. 18:1055-1065(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS XLP1 CYS-54; THR-84 AND SER-87, CHARACTERIZATION OF VARIANTS XLP1 CYS-54; THR-84 AND SER-87.

    Entry informationi

    Entry nameiSH21A_HUMAN
    AccessioniPrimary (citable) accession number: O60880
    Secondary accession number(s): A8MSW0
    , O95383, O95384, O95385, O95386, Q6FGS6, Q9UNR0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: August 1, 1998
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3