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Aliases for SRBD1 Gene

Aliases for SRBD1 Gene

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

External Ids for SRBD1 Gene

Previous GeneCards Identifiers for SRBD1 Gene

  • GC02M045469
  • GC02M045615

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, Primary Open Angle. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity, acting on ester bonds.

Additional gene information for SRBD1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRBD1 Gene

Genomics for SRBD1 Gene

GeneHancer (GH) Regulatory Elements for SRBD1 Gene

Promoters and enhancers for SRBD1 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
GH02I045609 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 565.8 +0.7 712 3.3 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF143 SRBD1 PRKCE RN7SL414P
GH02I046296 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 13.8 -692.0 -692036 16.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 EPAS1 ENSG00000225187 SRBD1 ENSG00000233845 TTC7A LOC105374583 GC02M046254
GH02I045647 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 -38.2 -38223 5.4 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 GC02P045648 GC02M045648 LOC102724965 PRKCE SRBD1 LOC100506142
GH02I045006 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 +603.2 603185 4.4 PKNOX1 SIN3A ZNF2 ZBTB7B BRCA1 ETS1 GLIS2 ZNF143 SP3 TSHZ1 SIX2 SRBD1 ENSG00000231156 LOC730043 GC02P044973
GH02I046323 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -718.6 -718570 15.4 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 ENSG00000228925 EPAS1 ENSG00000225187 ENSG00000232696 ENSG00000231336 SRBD1 MCFD2 SOCS5 LOC105374583 GC02M046254
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SRBD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SRBD1 gene promoter:

Genomic Locations for SRBD1 Gene

Genomic Locations for SRBD1 Gene
chr2:45,388,680-45,612,165
(GRCh38/hg38)
Size:
223,486 bases
Orientation:
Minus strand
chr2:45,615,819-45,839,304
(GRCh37/hg19)

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:
    Q8N5C6-SRBD1_HUMAN
    Recommended name:
    S1 RNA-binding domain-containing protein 1
    Protein Accession:
    Q8N5C6
    Secondary Accessions:
    • Q53T56
    • Q96TA4
    • Q9NW11

    Protein attributes for SRBD1 Gene

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

    Alternative splice isoforms for SRBD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SRBD1 Gene

Post-translational modifications for SRBD1 Gene

No Post-translational modifications

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SRBD1: view

No data available for 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:0003723 RNA binding IEA --
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

Clone Products

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

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 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

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 --
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

Unigene Clusters for SRBD1 Gene

S1 RNA binding domain 1:
Representative Sequences:

Clone Products

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: -
SP2:
SP3:

Relevant External Links for SRBD1 Gene

GeneLoc Exon Structure for
SRBD1
ECgene alternative splicing isoforms for
SRBD1

Expression for SRBD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SRBD1 Gene



Protein tissue co-expression partners for SRBD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SRBD1 Gene:

SRBD1

SOURCE GeneReport for Unigene cluster for SRBD1 Gene:

Hs.14229

Evidence on tissue expression from TISSUES for SRBD1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with SRBD1: view

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
chimpanzee
(Pan troglodytes)
Mammalia SRBD1 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia SRBD1 33 34
  • 91.57 (n)
cow
(Bos Taurus)
Mammalia SRBD1 33 34
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Srbd1 33
  • 83.62 (n)
mouse
(Mus musculus)
Mammalia Srbd1 33 16 34
  • 83.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SRBD1 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SRBD1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SRBD1 33 34
  • 71.08 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 76 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia srbd1 33
  • 66.53 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558201 33
  • 61.53 (n)
srbd1 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31156 33 34
  • 46.46 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK973.1 33 34
  • 47.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for SRBD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

ENSEMBL:
Gene Tree for SRBD1 (if available)
TreeFam:
Gene Tree for SRBD1 (if available)

Paralogs for SRBD1 Gene

No data available for Paralogs for SRBD1 Gene

Variants for SRBD1 Gene

Sequence variations from dbSNP and Humsavar for SRBD1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000009040 -- 45,425,594(-) C/T intron_variant
rs1000010518 -- 45,422,723(-) A/T intron_variant
rs1000021574 -- 45,567,714(-) G/A intron_variant
rs1000026370 -- 45,427,926(-) T/C intron_variant
rs1000033028 -- 45,569,184(-) TTTTTT/TTT genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SRBD1 Gene

Variant ID Type Subtype PubMed ID
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
esv2720008 CNV deletion 23290073
esv2671965 CNV deletion 23128226
esv2659564 CNV deletion 23128226
esv2618979 CNV deletion 19546169
esv2590571 CNV deletion 19546169
esv22205 CNV loss 19812545
dgv6846n54 CNV loss 21841781
dgv6845n54 CNV loss 21841781
dgv6844n54 CNV loss 21841781
dgv6843n54 CNV loss 21841781
dgv6842n54 CNV gain 21841781
dgv3804n100 CNV gain 25217958
dgv217n21 CNV loss 19592680
dgv1903n106 CNV tandem duplication 24896259
dgv1119e212 CNV gain 25503493
nsv998852 CNV gain 25217958
nsv955083 CNV deletion 24416366
nsv833958 CNV gain 17160897
nsv581740 CNV gain 21841781

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
SRBD1

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

Disorders for SRBD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SRBD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
glaucoma, primary open angle
  • poag
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. 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 44 58
  2. 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 44 58
  3. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for SRBD1 Gene

Sources for SRBD1 Gene

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