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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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for CYB5D1 Gene

Promoters and enhancers for CYB5D1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I007854 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.4 -0.8 -781 5 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B NEUROD1 SIN3A FEZF1 CYB5D1 NAA38 ENSG00000280046 TMEM88 GC17P007860 SNORD10 DVL2 PFAS SNORA48 CTC1
GH17I007233 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 43.4 -619.1 -619087 11.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 DVL2 GABARAP PHF23 CNTROB SNORD10 NEURL4 SNORA48 WRAP53 POLR2A KCTD11
GH17I008149 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.3 +299.6 299573 16 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 PER1 VAMP2 ENSG00000265749 CYB5D1 CTC1 DVL2 PFAS CNTROB SENP3 POLR2A
GH17I007833 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.9 -18.0 -18017 12.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 KDM6B DVL2 PFAS CTC1 WRAP53 CNTROB POLR2A SNORD10 SNORA48 PER1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYB5D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB5D1 gene promoter:

Genomic Locations for CYB5D1 Gene

Genomic Locations for CYB5D1 Gene
5,741 bases
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:
    Recommended name:
    Cytochrome b5 domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • D3DTQ8
    • Q96DM7

    Protein attributes for CYB5D1 Gene

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

    Alternative splice isoforms for CYB5D1 Gene


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



  • Belongs to the cytochrome b5 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:

Clone Products

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

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

Gene Ontology (GO) - Biological Process for CYB5D1 Gene


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:

Clone Products

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
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for CYB5D1 Gene:


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

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
(Pan troglodytes)
Mammalia CYB5D1 34
  • 100 (a)
LOC455210 33
  • 99.71 (n)
(Bos Taurus)
Mammalia CYB5D1 33 34
  • 89.04 (n)
(Canis familiaris)
Mammalia CYB5D1 33 34
  • 88.01 (n)
(Rattus norvegicus)
Mammalia Cyb5d1 33
  • 83.77 (n)
(Mus musculus)
Mammalia Gm6685 34
  • 83 (a)
Cyb5d1 33 16 34
  • 81.87 (n)
(Monodelphis domestica)
Mammalia CYB5D1 34
  • 70 (a)
(Ornithorhynchus anatinus)
Mammalia CYB5D1 34
  • 64 (a)
(Anolis carolinensis)
Reptilia CYB5D1 34
  • 69 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5d1 33
  • 65.56 (n)
(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)
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

Gene Tree for CYB5D1 (if available)
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 Variation AA Info Type
rs1000065053 -- 7,864,545(+) C/T downstream_transcript_variant
rs1000378794 -- 7,856,253(+) C/G upstream_transcript_variant
rs1000617531 -- 7,862,935(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000749924 -- 7,856,110(+) G/A upstream_transcript_variant
rs1000828452 -- 7,860,120(+) T/C 3_prime_UTR_variant, intron_variant

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)

Additional Variant Information for CYB5D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for CYB5D1 Gene

Additional Disease Information for 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 58
  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 58
  3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett EJ … Harper JW (Cell 2010) 3 58
  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 58
  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 58

Products for CYB5D1 Gene

Sources for CYB5D1 Gene

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