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UniProtKB - O60880 (SH21A_HUMAN)

Entry version 183 (23 Feb 2022)
Sequence version 1 (01 Aug 1998)
Previous versions | rss
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Protein

SH2 domain-containing protein 1A

Gene

SH2D1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999).

However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214).

Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity).

May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.

By similarity1 Publication2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAdaptive immunity, Immunity, Innate immunity

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60880

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-198933, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O60880

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SH2D1A
Synonyms:DSHP, SAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:10820, SH2D1A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300490, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60880

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000183918

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lymphoproliferative syndrome, X-linked, 1 (XLP1)11 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0480057Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1, decreases interaction with FYN. 4 PublicationsCorresponds to variant dbSNP:rs1569527111EnsemblClinVar.1
Natural variantiVAR_0480068H → D in XLP1. 1 Publication1
Natural variantiVAR_04800716G → D in XLP1; abolishes interaction with SLAMF1. 1 Publication1
Natural variantiVAR_04800827G → S in XLP1. 1 Publication1
Natural variantiVAR_04800928S → R in XLP1; reduced protein stability. 3 Publications1
Natural variantiVAR_04801031L → P in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications1
Natural variantiVAR_00561232R → T in XLP1. 2 PublicationsCorresponds to variant dbSNP:rs111033624EnsemblClinVar.1
Natural variantiVAR_04801133D → Y in XLP1. 1 Publication1
Natural variantiVAR_04801242C → W in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1. 2 Publications1
Natural variantiVAR_04801349G → V in XLP1. 1 Publication1
Natural variantiVAR_04801453T → I in XLP1; loss of interaction with CD84; loss of interaction with non-phosphorylated SLAMF1. 3 Publications1
Natural variantiVAR_04801554Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 3 Publications1
Natural variantiVAR_01830755R → L in XLP1; reduced affinity for SLAMF1 and FYN. 2 PublicationsCorresponds to variant dbSNP:rs111033630EnsemblClinVar.1
Natural variantiVAR_00561368T → I in XLP1; loss of interaction with CD84; strongly reduced affinity for SLAMF1. 3 PublicationsCorresponds to variant dbSNP:rs111033627EnsemblClinVar.1
Natural variantiVAR_04801784I → T in XLP1; reduced protein stability. 1 Publication1
Natural variantiVAR_04801887F → S in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 3 Publications1
Natural variantiVAR_04801999Q → P in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, disrupts interaction with FYN. 4 Publications1
Natural variantiVAR_005614101P → L in XLP1; reduced protein stability and reduced affinity for SLAMF1, decreases interaction with FYN. 4 PublicationsCorresponds to variant dbSNP:rs111033626EnsemblClinVar.1
Natural variantiVAR_048020102V → G in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, decreases interaction with FYN. 4 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi32R → Q: Strongly reduced affinity for SLAMF1. 1 Publication1
Mutagenesisi78R → E: Disrupts interaction with FYN. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4068

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SH2D1A

MalaCards human disease database

More...MalaCardsi		SH2D1A
MIMi308240, phenotype

Open Targets

More...OpenTargetsi		ENSG00000183918

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		538931, X-linked lymphoproliferative disease due to SH2D1A deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35728

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60880, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2321636

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SH2D1A

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000977221 – 128SH2 domain-containing protein 1AAdd BLAST128

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei89N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60880

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O60880

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60880

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O60880

PeptideAtlas

More...PeptideAtlasi		O60880

PRoteomics IDEntifications database

More...PRIDEi		O60880

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49642 [O60880-1]
49643 [O60880-2]
49644 [O60880-3]
49645 [O60880-4]
49646 [O60880-5]
49647 [O60880-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60880

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O60880

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000183918, Expressed in thymus and 137 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60880, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60880, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000183918, Tissue enriched (lymphoid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NTRK1, NTRK2 and NTRK3 (By similarity).

Interacts with CD84, CD244, LY9, SLAMF1 and FYN.

By similarity7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110246, 35 interactors

Database of interacting proteins

More...DIPi		DIP-40768N

Protein interaction database and analysis system

More...IntActi		O60880, 34 interactors

Molecular INTeraction database

More...MINTi		O60880

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360181

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O60880

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60880, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1128
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O60880

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O60880

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini6 – 104SH2PROSITE-ProRule annotationAdd BLAST99

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni67 – 92Interaction with FYN SH3 domainBy similarityAdd BLAST26
Regioni106 – 128DisorderedSequence analysisAdd BLAST23

Keywords - Domaini

SH2 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0565, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155920

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_125532_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60880

Identification of Orthologs from Complete Genome Data

More...OMAi		PDQGIAI

Database of Orthologous Groups

More...OrthoDBi		1417830at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60880

TreeFam database of animal gene trees

More...TreeFami		TF343096

Family and domain databases

Conserved Domains Database

More...CDDi		cd10400, SH2_SAP1a, 1 hit

Database of protein disorder

More...DisProti		DP02714

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.505.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000980, SH2
IPR036860, SH2_dom_sf
IPR017289, SH2_prot_1A
IPR035876, SH2D1A_SH2

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00017, SH2, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037828, SH2_p1A, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00401, SH2DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00252, SH2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF55550, SSF55550, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50001, SH2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform A (identifier: O60880-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y573A0A2R8Y573_HUMAN
SH2 domain-containing protein 1A
SH2D1A
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0480057Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1, decreases interaction with FYN. 4 PublicationsCorresponds to variant dbSNP:rs1569527111EnsemblClinVar.1
Natural variantiVAR_0480068H → D in XLP1. 1 Publication1
Natural variantiVAR_04800716G → D in XLP1; abolishes interaction with SLAMF1. 1 Publication1
Natural variantiVAR_04800827G → S in XLP1. 1 Publication1
Natural variantiVAR_04800928S → R in XLP1; reduced protein stability. 3 Publications1
Natural variantiVAR_04801031L → P in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 2 Publications1
Natural variantiVAR_00561232R → T in XLP1. 2 PublicationsCorresponds to variant dbSNP:rs111033624EnsemblClinVar.1
Natural variantiVAR_04801133D → Y in XLP1. 1 Publication1
Natural variantiVAR_04801242C → W in XLP1; loss of interaction with CD84 and reduced affinity for SLAMF1. 2 Publications1
Natural variantiVAR_04801349G → V in XLP1. 1 Publication1
Natural variantiVAR_04801453T → I in XLP1; loss of interaction with CD84; loss of interaction with non-phosphorylated SLAMF1. 3 Publications1
Natural variantiVAR_04801554Y → C in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 3 Publications1
Natural variantiVAR_01830755R → L in XLP1; reduced affinity for SLAMF1 and FYN. 2 PublicationsCorresponds to variant dbSNP:rs111033630EnsemblClinVar.1
Natural variantiVAR_04801657S → P in one XLP1 patient; unknown pathological significance. 1 Publication1
Natural variantiVAR_00561368T → I in XLP1; loss of interaction with CD84; strongly reduced affinity for SLAMF1. 3 PublicationsCorresponds to variant dbSNP:rs111033627EnsemblClinVar.1
Natural variantiVAR_04801784I → T in XLP1; reduced protein stability. 1 Publication1
Natural variantiVAR_04801887F → S in XLP1; reduced protein stability and reduced affinity for SLAMF1 and FYN. 3 Publications1
Natural variantiVAR_04801999Q → P in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, disrupts interaction with FYN. 4 Publications1
Natural variantiVAR_005614101P → L in XLP1; reduced protein stability and reduced affinity for SLAMF1, decreases interaction with FYN. 4 PublicationsCorresponds to variant dbSNP:rs111033626EnsemblClinVar.1
Natural variantiVAR_048020102V → G in XLP1; reduced protein stability and strongly reduced affinity for SLAMF1, decreases interaction with FYN. 4 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00438840 – 128VYCLC…CLKAP → ITVTFIHTECPRQKQVLGVL SISEARSRHCNTSAVSS in isoform E. CuratedAdd BLAST89
Alternative sequenceiVSP_00438747 – 128YHGYI…CLKAP → QHLGYIKDISGK in isoform C. CuratedAdd BLAST82
Alternative sequenceiVSP_00438947 – 128YHGYI…CLKAP → ISEARSRHCNTSAVSS in isoform F. CuratedAdd BLAST82
Alternative sequenceiVSP_00438668 – 128TAPGV…CLKAP → HFRSQIKA in isoform B. CuratedAdd BLAST61
Alternative sequenceiVSP_004390114 – 116Missing in isoform D. Curated3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
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 No translation available.
CH471107 Genomic DNA Translation: EAX11848.1
CH471107 Genomic DNA Translation: EAX11849.1
BC020732 mRNA Translation: AAH20732.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14608.1 [O60880-1]
CCDS48162.1 [O60880-4]

NCBI Reference Sequences

More...RefSeqi		NP_001108409.1, NM_001114937.2 [O60880-4]
NP_002342.1, NM_002351.4 [O60880-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000360027; ENSP00000353126; ENSG00000183918 [O60880-4]
ENST00000371139; ENSP00000360181; ENSG00000183918
ENST00000477673; ENSP00000477094; ENSG00000183918 [O60880-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4068

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4068

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000371139.9; ENSP00000360181.5; NM_002351.5; NP_002342.1

UCSC genome browser

More...UCSCi		uc004euf.6, human [O60880-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SH2D1Abase

SH2D1A mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 No translation available.
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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB 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[»]
SMRiO60880
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110246, 35 interactors
DIPiDIP-40768N
IntActiO60880, 34 interactors
MINTiO60880
STRINGi9606.ENSP00000360181

Chemistry databases

BindingDBiO60880
ChEMBLiCHEMBL2321636

PTM databases

iPTMnetiO60880
PhosphoSitePlusiO60880

Genetic variation databases

BioMutaiSH2D1A

Proteomic databases

jPOSTiO60880
MassIVEiO60880
MaxQBiO60880
PaxDbiO60880
PeptideAtlasiO60880
PRIDEiO60880
ProteomicsDBi49642 [O60880-1]
49643 [O60880-2]
49644 [O60880-3]
49645 [O60880-4]
49646 [O60880-5]
49647 [O60880-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30053, 465 antibodies from 41 providers

The DNASU plasmid repository

More...DNASUi		4068

Genome annotation databases

EnsembliENST00000360027; ENSP00000353126; ENSG00000183918 [O60880-4]
ENST00000371139; ENSP00000360181; ENSG00000183918
ENST00000477673; ENSP00000477094; ENSG00000183918 [O60880-5]
GeneIDi4068
KEGGihsa:4068
MANE-SelectiENST00000371139.9; ENSP00000360181.5; NM_002351.5; NP_002342.1
UCSCiuc004euf.6, human [O60880-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4068
DisGeNETi4068

GeneCards: human genes, protein and diseases

More...GeneCardsi		SH2D1A
GeneReviewsiSH2D1A
HGNCiHGNC:10820, SH2D1A
HPAiENSG00000183918, Tissue enriched (lymphoid)
MalaCardsiSH2D1A
MIMi300490, gene
308240, phenotype
neXtProtiNX_O60880
OpenTargetsiENSG00000183918
Orphaneti538931, X-linked lymphoproliferative disease due to SH2D1A deficiency
PharmGKBiPA35728
VEuPathDBiHostDB:ENSG00000183918

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0565, Eukaryota
GeneTreeiENSGT00940000155920
HOGENOMiCLU_125532_1_0_1
InParanoidiO60880
OMAiPDQGIAI
OrthoDBi1417830at2759
PhylomeDBiO60880
TreeFamiTF343096

Enzyme and pathway databases

PathwayCommonsiO60880
ReactomeiR-HSA-198933, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
SignaLinkiO60880

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4068, 4 hits in 660 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SH2D1A, human
EvolutionaryTraceiO60880

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SH2D1A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		4068
PharosiO60880, Tbio

Protein Ontology

More...PROi		PR:O60880
RNActiO60880, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000183918, Expressed in thymus and 137 other tissues
ExpressionAtlasiO60880, baseline and differential
GenevisibleiO60880, HS

Family and domain databases

CDDicd10400, SH2_SAP1a, 1 hit
DisProtiDP02714
Gene3Di3.30.505.10, 1 hit
InterProiView protein in InterPro
IPR000980, SH2
IPR036860, SH2_dom_sf
IPR017289, SH2_prot_1A
IPR035876, SH2D1A_SH2
PfamiView protein in Pfam
PF00017, SH2, 1 hit
PIRSFiPIRSF037828, SH2_p1A, 1 hit
PRINTSiPR00401, SH2DOMAIN
SMARTiView protein in SMART
SM00252, SH2, 1 hit
SUPFAMiSSF55550, SSF55550, 1 hit
PROSITEiView protein in PROSITE
PS50001, SH2, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSH21A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60880
Secondary accession number(s): A8MSW0
, O95383, O95384, O95385, O95386, Q6FGS6, Q9UNR0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: February 23, 2022
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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