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    SRPX sushi repeat containing protein X-linked [ Homo sapiens (human) ]

    Gene ID: 8406, updated on 12-Aug-2018

    Summary

    Official Symbol
    SRPXprovided by HGNC
    Official Full Name
    sushi repeat containing protein X-linkedprovided by HGNC
    Primary source
    HGNC:HGNC:11309
    See related
    Ensembl:ENSG00000101955 MIM:300187; Vega:OTTHUMG00000021362
    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
    DRS; ETX1; SRPX1; HEL-S-83p
    Expression
    Broad expression in placenta (RPKM 49.3), fat (RPKM 34.8) and 19 other tissues See more
    Orthologs

    Genomic context

    See SRPX in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (38149335..38220924, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38008588..38080177, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synaptotagmin like 5 Neighboring gene huntingtin interacting protein M Neighboring gene microRNA 548aj-2 Neighboring gene retinitis pigmentosa GTPase regulator Neighboring gene HNF4 motif-containing MPRA enhancer 122

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation involved in contact inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    phagolysosome assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    sushi repeat-containing protein SRPX
    Names
    epididymis secretory sperm binding protein Li 83p
    sushi-repeat-containing protein, X chromosome

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_016373.1 RefSeqGene

      Range
      5001..76590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170750.1NP_001164221.1  sushi repeat-containing protein SRPX isoform 2 precursor

      See identical proteins and their annotated locations for NP_001164221.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
      Source sequence(s)
      AK125542, AL121578, AL606748, BM672597, DA422854
      Consensus CDS
      CCDS55400.1
      UniProtKB/Swiss-Prot
      P78539
      Related
      ENSP00000440758.1, ENST00000544439.5
      Conserved Domains (3) summary
      cd00033
      Location:242297
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam02494
      Location:155237
      HYR; HYR domain
      pfam13778
      Location:312431
      DUF4174; Domain of unknown function (DUF4174)
    2. NM_001170751.1NP_001164222.1  sushi repeat-containing protein SRPX isoform 3 precursor

      See identical proteins and their annotated locations for NP_001164222.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AK298802, AL121578, AL606748, BM672597
      Consensus CDS
      CCDS55401.1
      UniProtKB/Swiss-Prot
      P78539
      Related
      ENSP00000411165.2, ENST00000432886.6
      Conserved Domains (3) summary
      cd00033
      Location:203258
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam02494
      Location:118198
      HYR; HYR domain
      pfam13778
      Location:273392
      DUF4174; Domain of unknown function (DUF4174)
    3. NM_001170752.1NP_001164223.1  sushi repeat-containing protein SRPX isoform 4 precursor

      See identical proteins and their annotated locations for NP_001164223.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 4) has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK293127, AL121578, AL606748, BM672597
      Consensus CDS
      CCDS55402.1
      UniProtKB/Swiss-Prot
      P78539
      Related
      ENSP00000445034.1, ENST00000538295.5
      Conserved Domains (3) summary
      cd00033
      Location:262317
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam02494
      Location:175257
      HYR; HYR domain
      pfam13778
      Location:332367
      DUF4174; Domain of unknown function (DUF4174)
    4. NM_006307.4NP_006298.1  sushi repeat-containing protein SRPX isoform 1 precursor

      See identical proteins and their annotated locations for NP_006298.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL121578, BC020684, BM672597, DC388035
      Consensus CDS
      CCDS14245.1
      UniProtKB/Swiss-Prot
      P78539
      Related
      ENSP00000367794.3, OTTHUMP00000023141, ENST00000378533.3, OTTHUMT00000056243
      Conserved Domains (3) summary
      cd00033
      Location:262317
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam02494
      Location:175257
      HYR; HYR domain
      pfam13778
      Location:332451
      DUF4174; Domain of unknown function (DUF4174)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      38149335..38220924 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029893.2XP_016885382.1  sushi repeat-containing protein SRPX isoform X1

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