Aliases for SRBD1 Gene

Aliases for SRBD1 Gene

  • S1 RNA Binding Domain 1 2 3 5
  • S1 RNA-Binding Domain-Containing Protein 1 3 4
  • WUGSC:H_NH0576F01.1 3
  • H_NH0576F01.1 3
  • FLJ10379 2
  • SRBD1 5

External Ids for SRBD1 Gene

Previous GeneCards Identifiers for SRBD1 Gene

  • GC02M045469
  • GC02M045615
  • GC02M045354

Summaries for SRBD1 Gene

GeneCards Summary for SRBD1 Gene

SRBD1 (S1 RNA Binding Domain 1) is a Protein Coding gene. Diseases associated with SRBD1 include Glaucoma, Normal Tension and Glaucoma, Primary Open Angle. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity, acting on ester bonds.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SRBD1 Gene

Genomics for SRBD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SRBD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SRBD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SRBD1

Top Transcription factor binding sites by QIAGEN in the SRBD1 gene promoter:
  • E4BP4
  • Nkx6-1
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • RORalpha1
  • TBP
  • TGIF

Genomic Locations for SRBD1 Gene

Latest Assembly
223,486 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
222,588 bases
Minus strand

(GRCh37/hg19 by Ensembl)
223,486 bases
Minus strand

Genomic View for SRBD1 Gene

Genes around SRBD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRBD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRBD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRBD1 Gene

Proteins for SRBD1 Gene

  • Protein details for SRBD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    S1 RNA-binding domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q53T56
    • Q96TA4
    • Q9NW11

    Protein attributes for SRBD1 Gene

    995 amino acids
    Molecular mass:
    111776 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAY14821.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SRBD1 Gene


neXtProt entry for SRBD1 Gene

Post-translational modifications for SRBD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SRBD1 Gene

No data available for DME Specific Peptides for SRBD1 Gene

Domains & Families for SRBD1 Gene

Gene Families for SRBD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SRBD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57207 (B7Z6X7_HUMAN)
  • S1 RNA-binding domain-containing protein 1 (SRBD1_HUMAN)
genes like me logo Genes that share domains with SRBD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SRBD1 Gene

Function for SRBD1 Gene

Phenotypes From GWAS Catalog for SRBD1 Gene

Gene Ontology (GO) - Molecular Function for SRBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003729 mRNA binding IBA 21873635
GO:0003735 structural constituent of ribosome IBA 21873635
genes like me logo Genes that share ontologies with SRBD1: view
genes like me logo Genes that share phenotypes with SRBD1: view

miRNA for SRBD1 Gene

miRTarBase miRNAs that target SRBD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SRBD1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SRBD1 Gene

Localization for SRBD1 Gene

Subcellular locations from

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 SRBD1 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SRBD1 Gene

Pathways & Interactions for SRBD1 Gene

PathCards logo

SuperPathways for SRBD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SRBD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006412 translation IBA 21873635
genes like me logo Genes that share ontologies with SRBD1: view

No data available for Pathways by source and SIGNOR curated interactions for SRBD1 Gene

Drugs & Compounds for SRBD1 Gene

No Compound Related Data Available

Transcripts for SRBD1 Gene

mRNA/cDNA for SRBD1 Gene

7 NCBI additional mRNA sequence :
5 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 SRBD1

Alternative Splicing Database (ASD) splice patterns (SP) for SRBD1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: -

Relevant External Links for SRBD1 Gene

GeneLoc Exon Structure for

Expression for SRBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRBD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SRBD1 Gene

This gene is overexpressed in Lung (16.0), Plasma (14.4), and Adipocyte (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SRBD1 Gene

Protein tissue co-expression partners for SRBD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SRBD1

SOURCE GeneReport for Unigene cluster for SRBD1 Gene:


Evidence on tissue expression from TISSUES for SRBD1 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with SRBD1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SRBD1 Gene

Orthologs for SRBD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SRBD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SRBD1 30 31
  • 99.23 (n)
(Canis familiaris)
Mammalia SRBD1 30 31
  • 91.57 (n)
(Bos Taurus)
Mammalia SRBD1 30 31
  • 89.27 (n)
(Rattus norvegicus)
Mammalia Srbd1 30
  • 83.62 (n)
(Mus musculus)
Mammalia Srbd1 30 17 31
  • 83.28 (n)
(Ornithorhynchus anatinus)
Mammalia SRBD1 31
  • 75 (a)
(Monodelphis domestica)
Mammalia SRBD1 31
  • 69 (a)
(Gallus gallus)
Aves SRBD1 30 31
  • 71.08 (n)
(Anolis carolinensis)
Reptilia -- 31
  • 76 (a)
-- 31
  • 62 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia srbd1 30
  • 66.53 (n)
(Danio rerio)
Actinopterygii LOC558201 30
  • 61.53 (n)
srbd1 31
  • 53 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31156 30 31
  • 46.46 (n)
(Caenorhabditis elegans)
Secernentea ZK973.1 30 31
  • 47.22 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
Species where no ortholog for SRBD1 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)
  • 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 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)

Evolution for SRBD1 Gene

Gene Tree for SRBD1 (if available)
Gene Tree for SRBD1 (if available)
Evolutionary constrained regions (ECRs) for SRBD1: view image

Paralogs for SRBD1 Gene

No data available for Paralogs for SRBD1 Gene

Variants for SRBD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SRBD1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs3755072 - p.Lys811Arg
rs3755073 - p.Val798Phe
rs6544834 - p.Thr361Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SRBD1 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 SRBD1 Gene

Variant ID Type Subtype PubMed ID
dgv1119e212 CNV gain 25503493
dgv1903n106 CNV tandem duplication 24896259
dgv217n21 CNV loss 19592680
dgv3804n100 CNV gain 25217958
dgv6842n54 CNV gain 21841781
dgv6843n54 CNV loss 21841781
dgv6844n54 CNV loss 21841781
dgv6845n54 CNV loss 21841781
dgv6846n54 CNV loss 21841781
esv22205 CNV loss 19812545
esv2590571 CNV deletion 19546169
esv2618979 CNV deletion 19546169
esv2659564 CNV deletion 23128226
esv2671965 CNV deletion 23128226
esv2720008 CNV deletion 23290073
esv2720009 CNV deletion 23290073
esv2751894 CNV gain 17911159
esv2762545 CNV gain 21179565
esv3305628 CNV mobile element insertion 20981092
esv3420842 CNV insertion 20981092
esv3555966 CNV deletion 23714750
esv3583777 CNV loss 25503493
esv3590587 CNV loss 21293372
esv3590588 CNV loss 21293372
esv3590589 CNV loss 21293372
nsv1013787 CNV gain 25217958
nsv1110740 CNV insertion 24896259
nsv1114079 CNV deletion 24896259
nsv1114080 CNV deletion 24896259
nsv1131463 CNV deletion 24896259
nsv1149282 CNV insertion 26484159
nsv457285 CNV loss 19166990
nsv457296 CNV loss 19166990
nsv519046 CNV loss 19592680
nsv520955 CNV loss 19592680
nsv521080 CNV loss 19592680
nsv581713 CNV gain 21841781
nsv581716 CNV loss 21841781
nsv581717 CNV loss 21841781
nsv581718 CNV loss 21841781
nsv581724 CNV loss 21841781
nsv581739 CNV loss 21841781
nsv581740 CNV gain 21841781
nsv833958 CNV gain 17160897
nsv955083 CNV deletion 24416366
nsv998852 CNV gain 25217958

Variation tolerance for SRBD1 Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SRBD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SRBD1 Gene

Disorders for SRBD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SRBD1 Gene - From: COP

Disorder Aliases PubMed IDs
glaucoma, normal tension
  • glaucoma, normal tension, susceptibility to
glaucoma, primary open angle
  • poag
ischemic neuropathy
  • ischemic peripheral neuropathy
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
- elite association - COSMIC cancer census association via MalaCards
Search SRBD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SRBD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SRBD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SRBD1 Gene

Publications for SRBD1 Gene

  1. Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. (PMID: 24040232) Kanemaki N … Mizuki N (PloS one 2013) 2 3
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. (PMID: 20363506) Writing Committee for the Normal Tension Glaucoma Genetic Study Group of Japan Glaucoma Society … Bahram S (Ophthalmology 2010) 3 41
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SRBD1 Gene

Sources for SRBD1 Gene