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Aliases for CYB5A Gene

Aliases for CYB5A Gene

  • Cytochrome B5 Type A 2 3
  • Cytochrome B5 Type A (Microsomal) 2 3 5
  • CYB5 3 4
  • MCB5 3 4
  • Microsomal Cytochrome B5 Type A 4
  • Cytochrome B5 (Microsomal) 2
  • Cytochrome B-5 2
  • Type 1 Cyt-B5 3

External Ids for CYB5A Gene

Previous HGNC Symbols for CYB5A Gene

  • CYB5

Previous GeneCards Identifiers for CYB5A Gene

  • GC18M070072
  • GC18M071920
  • GC18M068652

Summaries for CYB5A Gene

Entrez Gene Summary for CYB5A Gene

  • The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

GeneCards Summary for CYB5A Gene

CYB5A (Cytochrome B5 Type A) is a Protein Coding gene. Diseases associated with CYB5A include methemoglobinemia, type iv and 46,xy disorder of sex development due to isolated 17,20-lyase deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include enzyme binding and cytochrome-c oxidase activity. An important paralog of this gene is CYB5B.

UniProtKB/Swiss-Prot for CYB5A Gene

  • Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.

Gene Wiki entry for CYB5A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5A Gene

Genomics for CYB5A Gene

Regulatory Elements for CYB5A Gene

Promoters for CYB5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYB5A on UCSC Golden Path with GeneCards custom track

Genomic Location for CYB5A Gene

Chromosome:
18
Start:
74,250,847 bp from pter
End:
74,292,016 bp from pter
Size:
41,170 bases
Orientation:
Minus strand

Genomic View for CYB5A Gene

Genes around CYB5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5A Gene

Proteins for CYB5A Gene

  • Protein details for CYB5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00167-CYB5_HUMAN
    Recommended name:
    Cytochrome b5
    Protein Accession:
    P00167
    Secondary Accessions:
    • A8MV91
    • F8WEU4
    • Q6IB14

    Protein attributes for CYB5A Gene

    Size:
    134 amino acids
    Molecular mass:
    15330 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA63169.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYB5A Gene

    Alternative splice isoforms for CYB5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5A Gene

Proteomics data for CYB5A Gene at MOPED

Post-translational modifications for CYB5A Gene

  • Ubiquitination at Lys 10 and Lys 39
  • Modification sites at PhosphoSitePlus

Other Protein References for CYB5A Gene

Antibody Products

No data available for DME Specific Peptides for CYB5A Gene

Domains & Families for CYB5A Gene

Protein Domains for CYB5A Gene

Suggested Antigen Peptide Sequences for CYB5A Gene

Graphical View of Domain Structure for InterPro Entry

P00167

UniProtKB/Swiss-Prot:

CYB5_HUMAN :
  • Contains 1 cytochrome b5 heme-binding domain.
  • Belongs to the cytochrome b5 family.
Domain:
  • Contains 1 cytochrome b5 heme-binding domain.
Family:
  • Belongs to the cytochrome b5 family.
genes like me logo Genes that share domains with CYB5A: view

No data available for Gene Families for CYB5A Gene

Function for CYB5A Gene

Molecular function for CYB5A Gene

UniProtKB/Swiss-Prot Function:
Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.

Gene Ontology (GO) - Molecular Function for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB5A: view
genes like me logo Genes that share phenotypes with CYB5A: view

Human Phenotype Ontology for CYB5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5A Gene

Localization for CYB5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5A Gene

Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side. Microsome membrane; Single-pass membrane protein; Cytoplasmic side.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYB5A Gene COMPARTMENTS Subcellular localization image for CYB5A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
mitochondrion 5
cytosol 4
nucleus 3
plasma membrane 2
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CYB5A: view

Pathways & Interactions for CYB5A Gene

genes like me logo Genes that share pathways with CYB5A: view

Pathways by source for CYB5A Gene

Gene Ontology (GO) - Biological Process for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with CYB5A: view

No data available for SIGNOR curated interactions for CYB5A Gene

Drugs & Compounds for CYB5A Gene

(48) Drugs for CYB5A Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dimethyl Propionate Ester Heme Experimental Pharma Target 0
heme Pharma Agonist 0

(55) Additional Compounds for CYB5A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CYB5A: view

Transcripts for CYB5A Gene

Unigene Clusters for CYB5A Gene

Cytochrome b5 type A (microsomal):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5A Gene

No ASD Table

Relevant External Links for CYB5A Gene

GeneLoc Exon Structure for
CYB5A
ECgene alternative splicing isoforms for
CYB5A

Expression for CYB5A Gene

mRNA expression in normal human tissues for CYB5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB5A Gene

This gene is overexpressed in Liver (x12.3) and Kidney - Cortex (x5.1).

Protein differential expression in normal tissues from HIPED for CYB5A Gene

This gene is overexpressed in Liver, secretome (11.8), Adipocyte (10.9), and Liver (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYB5A Gene



SOURCE GeneReport for Unigene cluster for CYB5A Gene Hs.465413

genes like me logo Genes that share expression patterns with CYB5A: view

Protein tissue co-expression partners for CYB5A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CYB5A Gene

Orthologs for CYB5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB5A 36
  • 99 (a)
OneToOne
LOC735913 35
  • 99.25 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia CYB5A 36
  • 84 (a)
OneToOne
CYB5A 35
  • 84.58 (n)
  • 83.58 (a)
dog
(Canis familiaris)
Mammalia CYB5A 35
  • 88.06 (n)
  • 90.3 (a)
CYB5A 36
  • 75 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cyb5a 16
Cyb5 36
  • 87 (a)
OneToOne
Cyb5 35
  • 86.32 (n)
  • 87.31 (a)
oppossum
(Monodelphis domestica)
Mammalia CYB5A 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5A 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5a 35
  • 87.06 (n)
  • 88.06 (a)
chicken
(Gallus gallus)
Aves CYB5A 36
  • 72 (a)
OneToOne
CYB5A 35
  • 76.61 (n)
  • 79.03 (a)
lizard
(Anolis carolinensis)
Reptilia CYB5A 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5a 35
  • 73.48 (n)
  • 78.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5a 35
  • 65.35 (n)
  • 69.29 (a)
cyb5a 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007121 35
  • 56.64 (n)
  • 47.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3566 36
  • 38 (a)
ManyToMany
CG5157 36
  • 31 (a)
ManyToMany
CG6870 36
  • 26 (a)
ManyToMany
Cyt-b5 36
  • 45 (a)
ManyToMany
Cyt-b5 35
  • 54.69 (n)
  • 47.66 (a)
worm
(Caenorhabditis elegans)
Secernentea cytb-5.1 36
  • 45 (a)
ManyToMany
cytb-5.2 36
  • 34 (a)
ManyToMany
cytb-5.1 35
  • 53.49 (n)
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB5 36
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CB5-E 35
  • 54.02 (n)
  • 44.83 (a)
rice
(Oryza sativa)
Liliopsida Os10g0518200 35
  • 58.44 (n)
  • 50.62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7428 36
  • 60 (a)
OneToMany
Species with no ortholog for CYB5A:
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYB5A Gene

ENSEMBL:
Gene Tree for CYB5A (if available)
TreeFam:
Gene Tree for CYB5A (if available)

Paralogs for CYB5A Gene

Paralogs for CYB5A Gene

(7) SIMAP similar genes for CYB5A Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CYB5A Gene

genes like me logo Genes that share paralogs with CYB5A: view

Variants for CYB5A Gene

Sequence variations from dbSNP and Humsavar for CYB5A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs888495 -- 74,284,839(-) ACATC(C/T)GTAGA intron-variant
rs1362875 -- 74,288,793(-) CTTCC(C/T)AGCCC intron-variant
rs1558948 -- 74,286,356(-) TTCAC(A/T)TGAAA intron-variant
rs1623820 -- 74,263,954(+) CGGCC(A/G)GGCAC intron-variant
rs1624068 -- 74,264,040(+) ACCCC(A/G)TCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYB5A Gene

Variant ID Type Subtype PubMed ID
nsv909911 CNV Gain 21882294
nsv519101 CNV Loss 19592680
nsv2356 CNV Insertion 18451855
esv2717341 CNV Deletion 23290073

Variation tolerance for CYB5A Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYB5A Gene

HapMap Linkage Disequilibrium report
CYB5A
Human Gene Mutation Database (HGMD)
CYB5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5A Gene

Disorders for CYB5A Gene

MalaCards: The human disease database

(9) MalaCards diseases for CYB5A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
methemoglobinemia, type iv
  • methemoglobinemia cyb5a-related
46,xy disorder of sex development due to isolated 17,20-lyase deficiency
46xy sex reversal 9
  • 46,xy sex reversal 9
methemoglobinemia
hereditary methemoglobinemia
  • congenital methemoglobinemia
- elite association - COSMIC cancer census association via MalaCards
Search CYB5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CYB5_HUMAN
  • Methemoglobinemia CYB5A-related (METHB-CYB5A) [MIM:250790]: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. {ECO:0000269 PubMed:8168836}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYB5A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYB5A
genes like me logo Genes that share disorders with CYB5A: view

No data available for Genatlas for CYB5A Gene

Publications for CYB5A Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 67
  2. Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction. (PMID: 19997042) Sacco J.C. … Trepanier L.A. (Pharmacogenet. Genomics 2010) 3 23
  3. Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. (PMID: 20080843) Kok R.C. … de Jong F.H. (J. Clin. Endocrinol. Metab. 2010) 3 23
  4. Cytochrome b5, not superoxide anion radical, is a major reductant of indoleamine 2,3-dioxygenase in human cells. (PMID: 18299324) Maghzal G.J. … Stocker R. (J. Biol. Chem. 2008) 3 23
  5. Reduction of hexavalent chromium by human cytochrome b5: generation of hydroxyl radical and superoxide. (PMID: 17320757) Borthiry G.R. … Myers C.R. (Free Radic. Biol. Med. 2007) 3 23

Products for CYB5A Gene

Sources for CYB5A Gene

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