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

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

    Summary

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    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 phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta (RPKM 49.3), fat (RPKM 34.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SRPX in Genome Data Viewer
    Location:
    Xp11.4
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (38149339..38220871, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (37552940..37624469, complement)
    RS_2024_09 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

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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. Down-regulation of drs mRNA in colorectal neoplasms. Mukaisho K, et al. Jpn J Cancer Res, 2002 Aug. PMID 12716466, Free PMC Article
    2. Down-regulation of drs mRNA in human prostate carcinomas. Kim CJ, et al. Hum Pathol, 2003 Jul. PMID 12874760
    3. A novel apoptotic pathway induced by the drs tumor suppressor gene. Tambe Y, et al. Oncogene, 2004 Apr 15. PMID 15021917
    4. Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3). Dry KL, et al. Hum Mol Genet, 1995 Dec. PMID 8634709
    5. Cloning of a new human gene with short consensus repeats using the EST database. Nangaku M, et al. Immunogenetics, 1997. PMID 9162095

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients.
      Title: A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients.
    2. the findings of the present study suggest that targeting the Cancerassociated fibroblasts genes, SRPX and HMCN1, can inhibit ovarian cancer migration and invasion.
      Title: SRPX and HMCN1 regulate cancer‑associated fibroblasts to promote the invasiveness of ovarian carcinoma.
    3. SRPX1 co-accumulated with Abeta deposits in cerebral blood vessels of all autopsied cases with severe cerebral amyloid angiopathy (CAA); no SRPX1 co-accumulated with Abeta deposits in senile plaques. Furthermore, we demonstrated that both Abeta40 and Abeta42 bound to SRPX1 in vitro and enhanced SRPX1 expression in primary cultures of cerebrovascular smooth muscle cells. SRPX1 enhanced caspase activity induced by Abeta40.
      Title: Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy.
    4. The SRPX protein contains the P-DUDES structural domain in its C-terminal region. This domain has significant albeit remote sequence similarity to thioredoxin-like domains, and is predicted to possess an oxidoreductase function.
      Title: [A case of mixed tumor of the palate].
    5. PELO is subcellularly localized at the actin cytoskeleton, interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton; this interaction may facilitate PELO to detect and degrade aberrant mRNAs.
      Title: Pelota interacts with HAX1, EIF3G and SRPX and the resulting protein complexes are associated with the actin cytoskeleton.
    6. An apoptosis-inducing protein localized in the endoplasmic reticulum which increases efficiency of apoptosis
      Title: A novel apoptotic pathway induced by the drs tumor suppressor gene.
    7. This is the first report demonstrating overexpression of ETX1 in glaucomatous trabecular meshwork.
      Title: ETX1 is over-expressed in the glaucomatous trabecular meshwork.
    8. Downregulation of drs tumor suppressor gene in highly malignant human pulmonary neuroendocrine tumors.
      Title: Downregulation of drs tumor suppressor gene in highly malignant human pulmonary neuroendocrine tumors.
    9. down-regulation of drs mRNA is closely correlated with carcinomas which arise from adenomatous polyps in the course of the adenoma-carcinoma sequence, but most carcinomas arising de novo are independent of the tumor suppressor function of the drs gene
      Title: Down-regulation of drs mRNA in colorectal neoplasms.
    10. Down-regulation of drs mRNA is closely correlated with development of prostate carcinoma, suggesting a tumor-suppressor function of the drs gene in this cancer.
      Title: Down-regulation of drs mRNA in human prostate carcinomas.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    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

    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

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    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)

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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.

    Genomic

    1. NG_016373.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001170750.2 → NP_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:242 → 297
      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:155 → 237
      HYR; HYR domain
      pfam13778
      Location:312 → 431
      DUF4174; Domain of unknown function (DUF4174)

    2. NM_001170751.2 → NP_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:203 → 258
      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:118 → 198
      HYR; HYR domain
      pfam13778
      Location:273 → 392
      DUF4174; Domain of unknown function (DUF4174)

    3. NM_001170752.2 → NP_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:262 → 317
      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:175 → 257
      HYR; HYR domain
      pfam13778
      Location:332 → 367
      DUF4174; Domain of unknown function (DUF4174)

    4. NM_006307.5 → NP_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:262 → 317
      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:53 → 175
      PHA02927; secreted complement-binding protein; Provisional
      pfam02494
      Location:175 → 257
      HYR; HYR domain
      pfam13778
      Location:332 → 451
      DUF4174; Domain of unknown function (DUF4174)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

    3. XM_017029893.3 → XP_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_054327956.1 → XP_054183931.1  sushi repeat-containing protein SRPX isoform X3

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

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78539.1 GenPept UniProtKB/Swiss-Prot:P78539

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