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    SIRPD signal regulatory protein delta [ Homo sapiens (human) ]

    Gene ID: 128646, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SIRPDprovided by HGNC
    Official Full Name
    signal regulatory protein deltaprovided by HGNC
    Primary source
    HGNC:HGNC:16248
    See related
    Ensembl:ENSG00000125900 AllianceGenome:HGNC:16248
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTPNS1L2; dJ576H24.4
    Summary
    Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 26.7) See more
    Orthologs
    all
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    Genomic context

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    See SIRPD in Genome Data Viewer
    Location:
    20p13
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1534251..1557705, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1583429..1606887, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1514897..1538351, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372499 Neighboring gene uncharacterized LOC105372498 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:1501740-1502939 Neighboring gene RNA, U6 small nuclear 917, pseudogene Neighboring gene uncharacterized LOC107985409 Neighboring gene signal regulatory protein beta 1 Neighboring gene TVP23B pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A nomenclature for signal regulatory protein family members. van den Berg TK, et al. J Immunol, 2005 Dec 15. PMID 16339511
    2. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. Lee OH, et al. Mol Cell Proteomics, 2011 Feb. PMID 21044950, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    signal-regulatory protein delta
    Names
    SIRP-delta
    protein tyrosine phosphatase, non-receptor type substrate 1-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001410802.1 → NP_001397731.1  signal-regulatory protein delta isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AL049634
      Consensus CDS
      CCDS93001.1
      UniProtKB/TrEMBL
      Q5TFQ5
      Related
      ENSP00000371034.1, ENST00000381621.5

    2. NM_178460.3 → NP_848555.2  signal-regulatory protein delta isoform 1 precursor

      See identical proteins and their annotated locations for NP_848555.2

      Status: VALIDATED

      Source sequence(s)
      AL049634, BC033502, DA466740
      Consensus CDS
      CCDS13018.1
      UniProtKB/Swiss-Prot
      B3KS88, Q5TFQ6, Q9H106
      Related
      ENSP00000371036.3, ENST00000381623.4
      Conserved Domains (2) summary
      smart00410
      Location:38 → 118
      IG_like; Immunoglobulin like
      pfam07686
      Location:34 → 140
      V-set; Immunoglobulin V-set domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1534251..1557705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439883.1 → XP_047295839.1  signal-regulatory protein delta isoform X1

    2. XM_047439887.1 → XP_047295843.1  signal-regulatory protein delta isoform X4

    3. XM_047439886.1 → XP_047295842.1  signal-regulatory protein delta isoform X3

    4. XM_047439885.1 → XP_047295841.1  signal-regulatory protein delta isoform X2

    5. XM_047439888.1 → XP_047295844.1  signal-regulatory protein delta isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1583429..1606887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322961.1 → XP_054178936.1  signal-regulatory protein delta isoform X1

    2. XM_054322963.1 → XP_054178938.1  signal-regulatory protein delta isoform X3

    3. XM_054322962.1 → XP_054178937.1  signal-regulatory protein delta isoform X2

    4. XM_054322964.1 → XP_054178939.1  signal-regulatory protein delta isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H106.2 GenPept UniProtKB/Swiss-Prot:Q9H106

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