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

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, 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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients.
Title: A Hypoxia Molecular Signature-Based Prognostic Model for Endometrial Cancer Patients.
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.
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.
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].
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.
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.
This is the first report demonstrating overexpression of ETX1 in glaucomatous trabecular meshwork.
Title: ETX1 is over-expressed in the glaucomatous trabecular meshwork.
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.
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.
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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SRPX (e-PCR)
- UniSTS:498183

SHGC-36486 (e-PCR)
- UniSTS:24385

RH79074 (e-PCR)
- UniSTS:40024

WI-18588 (e-PCR)
- UniSTS:11102

DXS1450 (e-PCR)
- UniSTS:99695

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 more info	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

NG_016373.1 RefSeqGene

Range

5054..76586

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)
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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

38149339..38220871 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442564.1 → XP_047298520.1 sushi repeat-containing protein SRPX isoform X3
XM_047442563.1 → XP_047298519.1 sushi repeat-containing protein SRPX isoform X2
XM_017029893.3 → XP_016885382.1 sushi repeat-containing protein SRPX isoform X1

UniProtKB/TrEMBL

V9HW11