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Aliases for BSDC1 Gene

Aliases for BSDC1 Gene

  • BSD Domain Containing 1 2 3 5

External Ids for BSDC1 Gene

Previous GeneCards Identifiers for BSDC1 Gene

  • GC01M032500
  • GC01M032603
  • GC01M032831
  • GC01M030946
  • GC01M032833

Summaries for BSDC1 Gene

GeneCards Summary for BSDC1 Gene

BSDC1 (BSD Domain Containing 1) is a Protein Coding gene.

Additional gene information for BSDC1 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 BSDC1 Gene

Genomics for BSDC1 Gene

Regulatory Elements for BSDC1 Gene

Enhancers for BSDC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H033361 2.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 19.4 -970.0 -969971 7 PKNOX1 ATF1 ZNF493 ZFP64 ZNF133 ARID4B FEZF1 ZNF2 TCF12 ZNF766 ZBTB8A RBBP4 ZSCAN20 S100PBP BSDC1 PHC2 CSMD2-AS1 ZBTB8B ZNF362 CSMD2
GH01H033336 2 FANTOM5 Ensembl ENCODE dbSUPER 20.3 -949.0 -949006 15 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PHC2 S100PBP A3GALT2 RBBP4 BSDC1 ENSG00000225313 TRIM62 ZSCAN20 ENSG00000270115 ZBTB8OS
GH01H032262 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.4 +129.3 129344 4 ZNF493 ZFP64 RARA SCRT2 ZNF654 ZNF680 ZC3H11A CEBPB OVOL3 REST TXLNA RBBP4 KHDRBS1 SNRNP40 TMEM39B ZBTB8A ZNF362 DCDC2B TSSK3 S100PBP
GH01H031951 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +438.7 438661 9 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 SNRNP40 KHDRBS1 RBBP4 TMEM39B TXLNA ZBTB8A IQCC ENSG00000224066 TSSK3 MTMR9LP
GH01H032350 1.4 ENCODE dbSUPER 11.8 +42.0 42001 4 HDGF MLX ARNT ARID4B SIN3A FEZF1 ZBTB7B SLC30A9 ZNF766 ZNF143 KHDRBS1 RBBP4 TXLNA TMEM39B ENSG00000224066 S100PBP DCDC2B ZBTB8A IQCC BSDC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BSDC1 on UCSC Golden Path with GeneCards custom track

Promoters for BSDC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004356 31 2200 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for BSDC1 Gene

Chromosome:
1
Start:
32,364,633 bp from pter
End:
32,394,731 bp from pter
Size:
30,099 bases
Orientation:
Minus strand

Genomic View for BSDC1 Gene

Genes around BSDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BSDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BSDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BSDC1 Gene

Proteins for BSDC1 Gene

  • Protein details for BSDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NW68-BSDC1_HUMAN
    Recommended name:
    BSD domain-containing protein 1
    Protein Accession:
    Q9NW68
    Secondary Accessions:
    • B4DMS7
    • B4DTI7
    • B4DTP7
    • B4E2X8
    • Q49AT8
    • Q68DY6
    • Q6IAA3
    • Q6MZK1
    • Q6UXS1
    • Q9HAL9

    Protein attributes for BSDC1 Gene

    Size:
    430 amino acids
    Molecular mass:
    47163 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BSDC1 Gene

neXtProt entry for BSDC1 Gene

Post-translational modifications for BSDC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BSDC1 Gene

Domains & Families for BSDC1 Gene

Gene Families for BSDC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BSDC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BSDC1: view

No data available for UniProtKB/Swiss-Prot for BSDC1 Gene

Function for BSDC1 Gene

genes like me logo Genes that share phenotypes with BSDC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BSDC1 Gene

Localization for BSDC1 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 BSDC1 gene
Compartment Confidence
golgi apparatus 3
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BSDC1 Gene

Pathways & Interactions for BSDC1 Gene

SuperPathways for BSDC1 Gene

No Data Available

Interacting Proteins for BSDC1 Gene

Gene Ontology (GO) - Biological Process for BSDC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BSDC1 Gene

Drugs & Compounds for BSDC1 Gene

No Compound Related Data Available

Transcripts for BSDC1 Gene

Unigene Clusters for BSDC1 Gene

BSD domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BSDC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - -
SP5: - - - - -
SP6: - -
SP7: - -
SP8: - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - -
SP12: -
SP13: -
SP14:

ExUns: 13a · 13b ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:

Relevant External Links for BSDC1 Gene

GeneLoc Exon Structure for
BSDC1
ECgene alternative splicing isoforms for
BSDC1

Expression for BSDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BSDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BSDC1 Gene

This gene is overexpressed in Testis (18.0) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BSDC1 Gene



Protein tissue co-expression partners for BSDC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BSDC1 Gene:

BSDC1

SOURCE GeneReport for Unigene cluster for BSDC1 Gene:

Hs.353454

Evidence on tissue expression from TISSUES for BSDC1 Gene

  • Nervous system(4.9)
  • Eye(2.5)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with BSDC1: view

Primer Products

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 BSDC1 Gene

Orthologs for BSDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BSDC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BSDC1 33 34
  • 99.22 (n)
dog
(Canis familiaris)
Mammalia BSDC1 33 34
  • 91.09 (n)
cow
(Bos Taurus)
Mammalia BSDC1 33 34
  • 90.54 (n)
mouse
(Mus musculus)
Mammalia Bsdc1 33 16 34
  • 89.2 (n)
rat
(Rattus norvegicus)
Mammalia Bsdc1 33
  • 88.65 (n)
oppossum
(Monodelphis domestica)
Mammalia BSDC1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BSDC1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves BSDC1 33 34
  • 73.43 (n)
lizard
(Anolis carolinensis)
Reptilia BSDC1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bsdc1 33
  • 66.5 (n)
Str.3373 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.12504 33
zebrafish
(Danio rerio)
Actinopterygii bsdc1 33 34
  • 66.08 (n)
wufb51h12 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.825 33
worm
(Caenorhabditis elegans)
Secernentea Y97E10AR.6 34
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToOne
Species where no ortholog for BSDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 BSDC1 Gene

ENSEMBL:
Gene Tree for BSDC1 (if available)
TreeFam:
Gene Tree for BSDC1 (if available)

Paralogs for BSDC1 Gene

No data available for Paralogs for BSDC1 Gene

Variants for BSDC1 Gene

Sequence variations from dbSNP and Humsavar for BSDC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000111835 -- 32,365,024(+) CCTGT(C/T)TCTGG nc-transcript-variant, utr-variant-3-prime
rs1000214902 -- 32,380,138(+) TTTTA(A/G)GCCAA intron-variant
rs1000333514 -- 32,371,217(+) AATAC(A/C)CTAGC intron-variant
rs1000365399 -- 32,389,161(+) GTGTT(A/G)GCCAG intron-variant
rs1000540497 -- 32,385,599(+) GCATG(C/T)ACCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BSDC1 Gene

Variant ID Type Subtype PubMed ID
esv7048 CNV gain 19470904

Variation tolerance for BSDC1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BSDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BSDC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BSDC1 Gene

Disorders for BSDC1 Gene

Relevant External Links for BSDC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BSDC1

No disorders were found for BSDC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BSDC1 Gene

Publications for BSDC1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  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 60

Products for BSDC1 Gene

Sources for BSDC1 Gene

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