Aliases for SRPX Gene

Aliases for SRPX Gene

  • Sushi Repeat Containing Protein X-Linked 2 3 5
  • ETX1 2 3 4
  • Sushi-Repeat-Containing Protein, X Chromosome 2 3
  • Sushi Repeat-Containing Protein SRPX 3 4
  • Epididymis Secretory Sperm Binding Protein Li 83p 3
  • Sushi-Repeat-Containing Protein, X-Linked 2
  • HEL-S-83p 3
  • SRPX1 3
  • SRPX 5
  • DRS 3

External Ids for SRPX Gene

Previous GeneCards Identifiers for SRPX Gene

  • GC0XM036113
  • GC0XM036296
  • GC0XM036853
  • GC0XM037039
  • GC0XM037764
  • GC0XM037893
  • GC0XM038009
  • GC0XM035753

Summaries for SRPX Gene

GeneCards Summary for SRPX Gene

SRPX (Sushi Repeat Containing Protein X-Linked) is a Protein Coding gene. Diseases associated with SRPX include Retinitis Pigmentosa and Retinitis Pigmentosa 3. An important paralog of this gene is SRPX2.

UniProtKB/Swiss-Prot Summary for SRPX Gene

  • May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.

Gene Wiki entry for SRPX Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRPX Gene

Genomics for SRPX Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRPX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ038219 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 259 +0.7 723 2.8 ZNF600 ZIC2 ZNF341 CTCF SP2 RAD21 TAF1 GLIS1 ZNF398 ZNF561 SRPX ENSG00000226679 HSALNG0137312 DYNLT3 MK280607-170 H2AP ENSG00000250349
GH0XJ038222 Enhancer 0.2 Ensembl 250.7 -1.4 -1377 0.2 ENSG00000226679 HSALNG0137312 SRPX RF00017-7692 RPGR ENSG00000250349
GH0XJ038275 Enhancer 1.1 FANTOM5 Ensembl ENCODE 12.2 -56.4 -56430 5.5 ZNF600 JUND CEBPB EP300 FOXA2 RFX5 RARA STAT3 THRB TCF7L2 SRPX ENSG00000226679 RPGR CYBB HSALNG0137315 5MWI_A-184 ENSG00000250349
GH0XJ038271 Enhancer 1 FANTOM5 Ensembl 12.8 -50.4 -50377 1 BCLAF1 BCL11A TRIM22 IRF4 ZNF316 BHLHE40 BATF ELF1 MAFK ZNF24 RF00017-7693 RPGR ENSG00000226679 SRPX CYBB HSALNG0137313 RF00017-7692 ENSG00000250349
GH0XJ038350 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 5.5 -134.1 -134142 8.7 ATF2 ATF3 YY1 RXRA JUND HNF4A ZNF664 MAX SP1 JUN OTC RPGR SRPX HSALNG0137327 piR-57460-711 TSPAN7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRPX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRPX

Top Transcription factor binding sites by QIAGEN in the SRPX gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • IRF-7A
  • LUN-1
  • MRF-2
  • Sox9
  • STAT5A

Genomic Locations for SRPX Gene

Latest Assembly
chrX:38,149,336-38,220,924
(GRCh38/hg38)
Size:
71,589 bases
Orientation:
Minus strand

Previous Assembly
chrX:38,008,592-38,080,124
(GRCh37/hg19 by Entrez Gene)
Size:
71,533 bases
Orientation:
Minus strand

chrX:38,008,589-38,080,696
(GRCh37/hg19 by Ensembl)
Size:
72,108 bases
Orientation:
Minus strand

Genomic View for SRPX Gene

Genes around SRPX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRPX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRPX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRPX Gene

Proteins for SRPX Gene

  • Protein details for SRPX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78539-SRPX_HUMAN
    Recommended name:
    Sushi repeat-containing protein SRPX
    Protein Accession:
    P78539
    Secondary Accessions:
    • A8K065
    • B3KWP8
    • B4DDB8
    • B4DQH5
    • F5H4D7
    • G3V1L0
    • Q4VX66
    • Q99652
    • Q99913

    Protein attributes for SRPX Gene

    Size:
    464 amino acids
    Molecular mass:
    51572 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SRPX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRPX Gene

Post-translational modifications for SRPX Gene

  • Glycosylation at Thr240 and Thr328
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SRPX Gene

Domains & Families for SRPX Gene

Gene Families for SRPX Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for SRPX Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for SRPX Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57806, highly similar to Sushi repeat-containing protein SRPX (B4DQH5_HUMAN)
  • Sushi repeat-containing protein SRPX (SRPX_HUMAN)
genes like me logo Genes that share domains with SRPX: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SRPX Gene

Function for SRPX Gene

Molecular function for SRPX Gene

UniProtKB/Swiss-Prot Function:
May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.
GENATLAS Biochemistry:
short consensus repeat protein 1,X chromosome,abundantly expressed in retina,deleted in patients with retinitis pigmentosa (RP3)

Phenotypes From GWAS Catalog for SRPX Gene

Gene Ontology (GO) - Molecular Function for SRPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 25037231
GO:0005515 protein binding IPI 20406461
genes like me logo Genes that share ontologies with SRPX: view
genes like me logo Genes that share phenotypes with SRPX: view

Animal Models for SRPX Gene

MGI Knock Outs for SRPX:

miRNA for SRPX Gene

miRTarBase miRNAs that target SRPX

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRPX

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SRPX Gene

Localization for SRPX Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRPX Gene

Cell surface. Note=Possibly surface of photoreceptor cell.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SRPX gene
Compartment Confidence
extracellular 4
plasma membrane 2
endoplasmic reticulum 2
nucleus 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for SRPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005776 autophagosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0009986 cell surface IEA --
GO:0016020 membrane TAS 8634708
GO:0062023 collagen-containing extracellular matrix HDA 25037231
genes like me logo Genes that share ontologies with SRPX: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SRPX Gene

Pathways & Interactions for SRPX Gene

PathCards logo

SuperPathways for SRPX Gene

No Data Available

SIGNOR curated interactions for SRPX Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SRPX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001845 phagolysosome assembly IEA --
GO:0006914 autophagy IEA --
GO:0007155 cell adhesion IEA --
GO:0034976 response to endoplasmic reticulum stress IEA --
GO:0060244 negative regulation of cell proliferation involved in contact inhibition IEA --
genes like me logo Genes that share ontologies with SRPX: view

No data available for Pathways by source for SRPX Gene

Drugs & Compounds for SRPX Gene

No Compound Related Data Available

Transcripts for SRPX Gene

mRNA/cDNA for SRPX Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRPX

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SRPX Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:
SP2: -
SP3: -

Relevant External Links for SRPX Gene

GeneLoc Exon Structure for
SRPX

Expression for SRPX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRPX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SRPX Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x5.4).

Protein differential expression in normal tissues from HIPED for SRPX Gene

This gene is overexpressed in Gallbladder (23.2) and Pancreas (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SRPX Gene



Protein tissue co-expression partners for SRPX Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRPX

SOURCE GeneReport for Unigene cluster for SRPX Gene:

Hs.15154

mRNA Expression by UniProt/SwissProt for SRPX Gene:

P78539-SRPX_HUMAN
Tissue specificity: Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain.

Evidence on tissue expression from TISSUES for SRPX Gene

  • Liver(4.3)
  • Nervous system(3.4)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with SRPX: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SRPX Gene

Orthologs for SRPX Gene

This gene was present in the common ancestor of chordates.

Orthologs for SRPX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SRPX 29 30
  • 99.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RPGR 30
  • 97 (a)
OneToOne
SRPX 29
  • 91.36 (n)
Cow
(Bos Taurus)
Mammalia SRPX 29 30
  • 89.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Srpx 29 16 30
  • 88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Srpx 29
  • 87.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SRPX 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SRPX 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SRPX 29
  • 75.31 (n)
Lizard
(Anolis carolinensis)
Reptilia SRPX 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100494595 29
  • 68.65 (n)
Zebrafish
(Danio rerio)
Actinopterygii srpx 29 30
  • 63.34 (n)
OneToOne
Dr.14621 29
Species where no ortholog for SRPX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SRPX Gene

ENSEMBL:
Gene Tree for SRPX (if available)
TreeFam:
Gene Tree for SRPX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SRPX: view image
Alliance of Genome Resources:
Additional Orthologs for SRPX

Paralogs for SRPX Gene

(1) SIMAP similar genes for SRPX Gene using alignment to 1 proteins:

  • SRPX_HUMAN
genes like me logo Genes that share paralogs with SRPX: view

Variants for SRPX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRPX Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1123773 Benign: not provided 38,161,035(-) G/Ap.Pro225Ser
NM_006307.5(SRPX):c.673C>T (p.Pro225Ser)
MISSENSE
rs141892408 Likely Benign: not provided 38,149,849(-) C/A
NM_006307.5(SRPX):c.1257G>T (p.Val419=)
NONSENSE,SYNONYMOUS
rs145370296 Benign: not provided 38,154,473(-) C/T
NM_006307.5(SRPX):c.1200G>A (p.Ala400=)
SYNONYMOUS_VARIANT,INTRON
rs188197194 Benign: not provided 38,178,347(-) A/G
NM_006307.5(SRPX):c.98-3T>C
INTRON
rs375318852 Uncertain Significance: Short stature 38,171,899(-) G/A
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SRPX Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SRPX Gene

Variant ID Type Subtype PubMed ID
nsv525751 CNV gain 19592680
nsv6866 CNV deletion 18451855

Variation tolerance for SRPX Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.93; 83.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRPX Gene

Human Gene Mutation Database (HGMD)
SRPX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRPX
Leiden Open Variation Database (LOVD)
SRPX

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRPX Gene

Disorders for SRPX Gene

MalaCards: The human disease database

(2) MalaCards diseases for SRPX Gene - From: COP and GCD

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
retinitis pigmentosa 3
  • rp3
- elite association - COSMIC cancer census association via MalaCards
Search SRPX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRPX

genes like me logo Genes that share disorders with SRPX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRPX Gene

Publications for SRPX Gene

  1. A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. (PMID: 8634708) Meindl A … Meitinger T (Human molecular genetics 1995) 2 3 4 22
  2. Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3). (PMID: 8634709) Dry KL … Thomson K (Human molecular genetics 1995) 2 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Down-regulation of drs mRNA in colorectal neoplasms. (PMID: 12716466) Mukaisho K … Hattori T (Japanese journal of cancer research : Gann 2002) 3 22

Products for SRPX Gene

Sources for SRPX Gene