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

    Gene ID: 8406, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:11309
    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
    Summary
    Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; phagolysosome assembly; and positive regulation of extrinsic apoptotic signaling pathway in absence of ligand. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in placenta (RPKM 49.3), fat (RPKM 34.8) and 19 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    Xp11.4
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (38149339..38220871, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37552940..37624469, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (38008592..38080124, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synaptotagmin like 5 Neighboring gene H2A.L variant histone 3 Neighboring gene microRNA 548aj-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29521 Neighboring gene uncharacterized LOC124905176 Neighboring gene retinitis pigmentosa GTPase regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20735

    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 Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell proliferation involved in contact inhibition IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagolysosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in autophagosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      5054..76586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170750.2NP_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, BM672597, DA422854
      Consensus CDS
      CCDS55400.1
      UniProtKB/TrEMBL
      V9HW11
      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_001170751.2NP_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/TrEMBL
      V9HW11
      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_001170752.2NP_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_006307.5NP_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
      Consensus CDS
      CCDS14245.1
      UniProtKB/Swiss-Prot
      A8K065, B3KWP8, B4DDB8, B4DQH5, F5H4D7, G3V1L0, P78539, Q4VX66, Q99652, Q99913
      UniProtKB/TrEMBL
      V9HW11
      Related
      ENSP00000367794.3, ENST00000378533.4
      Conserved Domains (4) 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
      PHA02927
      Location:53175
      PHA02927; secreted complement-binding protein; Provisional
      pfam02494
      Location:175257
      HYR; HYR domain
      pfam13778
      Location:332451
      DUF4174; Domain of unknown function (DUF4174)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      38149339..38220871 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442564.1XP_047298520.1  sushi repeat-containing protein SRPX isoform X3

    2. XM_047442563.1XP_047298519.1  sushi repeat-containing protein SRPX isoform X2

    3. XM_017029893.3XP_016885382.1  sushi repeat-containing protein SRPX isoform X1

      UniProtKB/TrEMBL
      V9HW11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      37552940..37624469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327956.1XP_054183931.1  sushi repeat-containing protein SRPX isoform X3

    2. XM_054327955.1XP_054183930.1  sushi repeat-containing protein SRPX isoform X2

    3. XM_054327954.1XP_054183929.1  sushi repeat-containing protein SRPX isoform X1