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Aliases for CYB5D1 Gene

Aliases for CYB5D1 Gene

  • Cytochrome B5 Domain Containing 1 2 3 5

External Ids for CYB5D1 Gene

Previous GeneCards Identifiers for CYB5D1 Gene

  • GC17P007704
  • GC17P007761

Summaries for CYB5D1 Gene

GeneCards Summary for CYB5D1 Gene

CYB5D1 (Cytochrome B5 Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include heme binding.

Additional gene information for CYB5D1 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 CYB5D1 Gene

Genomics for CYB5D1 Gene

Regulatory Elements for CYB5D1 Gene

Enhancers for CYB5D1 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
GH17H007171 1.2 Ensembl ENCODE 39.2 -684.1 -684066 4 FOXA2 ZNF473 ZSCAN4 YBX1 NFXL1 GLI4 RAD21 ZNF354C ZNF207 KLF7 DVL2 CNTROB WRAP53 NLGN2 CYB5D1 NEURL4 LOC100996842 SNORD10 ELP5 DLG4
GH17H008149 1.9 FANTOM5 ENCODE dbSUPER 22.2 +299.6 299573 15 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC ZNF610 ZNF585B DVL2 ENSG00000265749 CTC1 PER1 PFAS POLR2A CNTROB WRAP53 TP53 SNORD10
GH17H007233 1.5 ENCODE dbSUPER 24.6 -619.1 -619066 11 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC MEF2D DVL2 CNTROB SNORD10 SNORA48 WRAP53 POLR2A NEURL4 KCTD11 NLGN2 PLSCR3
GH17H008245 1.4 ENCODE dbSUPER 24.6 +390.2 390185 5 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 PFAS NEURL4 SENP3 CYB5D1 RANGRF CNTROB CTC1 WRAP53 ZBTB4 POLR2A
GH17H007931 1.1 ENCODE 24.8 +74.7 74747 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF302 ZNF143 DVL2 PFAS CYB5D1 CNTROB SCARNA21 CHD3 SENP3 CTC1 NEURL4 WRAP53
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYB5D1 on UCSC Golden Path with GeneCards custom track

Promoters for CYB5D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000090909 -146 2001 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766

Genomic Location for CYB5D1 Gene

Chromosome:
17
Start:
7,857,746 bp from pter
End:
7,863,486 bp from pter
Size:
5,741 bases
Orientation:
Plus strand

Genomic View for CYB5D1 Gene

Genes around CYB5D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5D1 Gene

Proteins for CYB5D1 Gene

  • Protein details for CYB5D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P9G0-CB5D1_HUMAN
    Recommended name:
    Cytochrome b5 domain-containing protein 1
    Protein Accession:
    Q6P9G0
    Secondary Accessions:
    • D3DTQ8
    • Q96DM7

    Protein attributes for CYB5D1 Gene

    Size:
    228 amino acids
    Molecular mass:
    26689 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYB5D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5D1 Gene

Post-translational modifications for CYB5D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB5D1 Gene

No data available for DME Specific Peptides for CYB5D1 Gene

Domains & Families for CYB5D1 Gene

Gene Families for CYB5D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYB5D1 Gene

Suggested Antigen Peptide Sequences for CYB5D1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P9G0

UniProtKB/Swiss-Prot:

CB5D1_HUMAN :
  • Belongs to the cytochrome b5 family.
Family:
  • Belongs to the cytochrome b5 family.
genes like me logo Genes that share domains with CYB5D1: view

Function for CYB5D1 Gene

Phenotypes From GWAS Catalog for CYB5D1 Gene

Gene Ontology (GO) - Molecular Function for CYB5D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB5D1: view
genes like me logo Genes that share phenotypes with CYB5D1: view

Animal Models for CYB5D1 Gene

MGI Knock Outs for CYB5D1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYB5D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CYB5D1 Gene

Localization for CYB5D1 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 CYB5D1 gene
Compartment Confidence
nucleus 2
golgi apparatus 2
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CYB5D1 Gene

Pathways & Interactions for CYB5D1 Gene

SuperPathways for CYB5D1 Gene

No Data Available

Interacting Proteins for CYB5D1 Gene

Selected Interacting proteins: Q6P9G0-CB5D1_HUMAN for CYB5D1 Gene via IID

Symbol External ID(s) Details
DCUN1D1

Gene Ontology (GO) - Biological Process for CYB5D1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CYB5D1 Gene

Drugs & Compounds for CYB5D1 Gene

(1) Drugs for CYB5D1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with CYB5D1: view

Transcripts for CYB5D1 Gene

Unigene Clusters for CYB5D1 Gene

Cytochrome b5 domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CYB5D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5D1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: -
SP3: -
SP4: -
SP5: - - - - - -
SP6: -

Relevant External Links for CYB5D1 Gene

GeneLoc Exon Structure for
CYB5D1
ECgene alternative splicing isoforms for
CYB5D1

Expression for CYB5D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB5D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CYB5D1 Gene:

CYB5D1

SOURCE GeneReport for Unigene cluster for CYB5D1 Gene:

Hs.27475

Evidence on tissue expression from TISSUES for CYB5D1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with CYB5D1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5D1 Gene

Orthologs for CYB5D1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYB5D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB5D1 34
  • 100 (a)
OneToOne
LOC455210 33
  • 99.71 (n)
cow
(Bos Taurus)
Mammalia CYB5D1 33 34
  • 89.04 (n)
dog
(Canis familiaris)
Mammalia CYB5D1 33 34
  • 88.01 (n)
rat
(Rattus norvegicus)
Mammalia Cyb5d1 33
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Gm6685 34
  • 83 (a)
OneToMany
Cyb5d1 33 16 34
  • 81.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CYB5D1 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5D1 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5D1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5d1 33
  • 65.56 (n)
zebrafish
(Danio rerio)
Actinopterygii cyb5d1 33 34
  • 65.41 (n)
Dr.17571 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14115 33
fruit fly
(Drosophila melanogaster)
Insecta CG15429 33 34
  • 53.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010016 33
  • 44.78 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToOne
Species where no ortholog for CYB5D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for CYB5D1 Gene

ENSEMBL:
Gene Tree for CYB5D1 (if available)
TreeFam:
Gene Tree for CYB5D1 (if available)

Paralogs for CYB5D1 Gene

No data available for Paralogs for CYB5D1 Gene

Variants for CYB5D1 Gene

Sequence variations from dbSNP and Humsavar for CYB5D1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000065053 -- 7,864,545(+) TCCTG(C/T)CTAGG intron-variant, downstream-variant-500B
rs1000378794 -- 7,856,253(+) GACCT(C/G)AGAGA intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000617531 -- 7,862,935(+) AGGGA(A/G)GGACA intron-variant
rs1000749924 -- 7,856,110(+) TCTGC(A/G)AACAG intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000828452 -- 7,860,120(+) CTAGA(C/T)ATTAT intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CYB5D1 Gene

Variant ID Type Subtype PubMed ID
dgv510n67 CNV gain 20364138
nsv833351 CNV loss 17160897

Variation tolerance for CYB5D1 Gene

Residual Variation Intolerance Score: 59.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.43; 88.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYB5D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5D1 Gene

Disorders for CYB5D1 Gene

Relevant External Links for CYB5D1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5D1

No disorders were found for CYB5D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB5D1 Gene

Publications for CYB5D1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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
  3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 60
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 60
  5. 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) 4 60

Products for CYB5D1 Gene

Sources for CYB5D1 Gene

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