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

Gene ID: 8406, updated on 2-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
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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. 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
  2. Cloning of a new human gene with short consensus repeats using the EST database. Nangaku M, et al. Immunogenetics, 1997. PMID 9162095
  3. Down-regulation of drs mRNA in colorectal neoplasms. Mukaisho K, et al. Jpn J Cancer Res, 2002 Aug. PMID 12716466, Free PMC Article
  4. ETX1 is over-expressed in the glaucomatous trabecular meshwork. Iragavarapu S, et al. Mol Vis, 2009 Oct 16. PMID 19862339, Free PMC Article
  5. Down-regulation of drs mRNA in human prostate carcinomas. Kim CJ, et al. Hum Pathol, 2003 Jul. PMID 12874760

See all (27) 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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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 Variation Viewer (GRCh37.p13)

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

Gene LinkOut

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