Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O60880

- SH21A_HUMAN

UniProt

O60880 - SH21A_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

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

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. 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
Complete GO annotation...

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
Complete GO annotation...

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.
GeneTreeiENSGT00510000046904.
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

        10         20         30         40         50
MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY
60 70 80 90 100
IYTYRVSQTE TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY
110 120
PVEKKSSARS TQGTTGIRED PDVCLKAP
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.
GeneTreei ENSGT00510000046904.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 128 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