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

Gene ID: 8406, updated on 10-Dec-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 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, Dec 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

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

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

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)

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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_001170750.2NP_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_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_047442564.1XP_047298520.1  sushi repeat-containing protein SRPX isoform X3

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

    UniProtKB/TrEMBL
    V9HW11
  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

    UniProtKB/TrEMBL
    V9HW11
  3. XM_054327954.1XP_054183929.1  sushi repeat-containing protein SRPX isoform X1

    UniProtKB/TrEMBL
    V9HW11