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Aliases for CYB5A Gene

Aliases for CYB5A Gene

  • Cytochrome B5 Type A (Microsomal) 2 3
  • MCB5 3 4 6
  • CYB5 3 4
  • Microsomal Cytochrome B5 Type A 4
  • Cytochrome B5 (Microsomal) 2
  • Cytochrome B-5 2
  • Cytochrome B5 3
  • Type 1 Cyt-B5 3

External Ids for CYB5A Gene

Previous Symbols for CYB5A Gene

  • CYB5

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 (Microsomal)) is a Protein Coding gene. Diseases associated with CYB5A include hereditary methemoglobinemia and methemoglobinemia. Among its related pathways are Disease and Metabolism. 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

Genomic Location for CYB5A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYB5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5A Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys10 and Lys39

Other Protein References for CYB5A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CYB5A Gene

Domains for CYB5A Gene

Gene Families for CYB5A Gene

HGNC:
  • CYB :Cytochrome b genes

Protein Domains for CYB5A Gene

UniProtKB/Swiss-Prot:

CYB5_HUMAN
Domain:
  • Contains 1 cytochrome b5 heme-binding domain.:
    • P00167
Family:
  • Belongs to the cytochrome b5 family.:
    • P00167
genes like me logo Genes that share domains with CYB5A: view

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:0004033 aldo-keto reductase (NADP) activity TAS --
GO:0004129 cytochrome-c oxidase activity TAS 1712589
GO:0019899 enzyme binding IPI 15680923
GO:0020037 heme binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB5A: view

Phenotypes for CYB5A Gene

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

miRNA for CYB5A Gene

miRTarBase miRNAs that target CYB5A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
mitochondrion 4
cytosol 3
nucleus 2
peroxisome 2
plasma membrane 2
golgi apparatus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CYB5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with CYB5A: view

Pathways for CYB5A Gene

SuperPathways for CYB5A Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Disease
3 Metabolism
4 Methylene Blue Pathway, Pharmacodynamics
5 Cytochrome P450 - arranged by substrate type
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 --
GO:0019852 L-ascorbic acid metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
GO:0046686 response to cadmium ion --
genes like me logo Genes that share ontologies with CYB5A: view

Compounds for CYB5A Gene

(1) HMDB Compounds for CYB5A Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8

(2) Drugbank Compounds for CYB5A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Dimethyl Propionate Ester Heme
target
Heme
target

(101) Novoseek inferred chemical compound relationships for CYB5A Gene

Compound -log(P) Hits PubMed IDs
benzamidoxime 85.2 4
benzphetamine 83.8 7
17-hydroxypregnenolone 78.9 1
sulfamethoxazole hydroxylamine 75.4 4
guanoxabenz 71.9 1
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 (12.3) and Kidney - Cortex (5.1).

Integrated Proteomics: protein expression 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 expressions with CYB5A: view

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 37
  • 99 (a)
OneToOne
LOC735913 36
  • 99.25 (n)
  • 99.25 (a)
cow
(Bos Taurus)
Mammalia CYB5A 36
  • 84.58 (n)
  • 83.58 (a)
CYB5A 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYB5A 36
  • 88.06 (n)
  • 90.3 (a)
CYB5A 37
  • 75 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cyb5 36
  • 86.32 (n)
  • 87.31 (a)
Cyb5 16
Cyb5 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYB5A 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYB5A 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyb5a 36
  • 87.06 (n)
  • 88.06 (a)
chicken
(Gallus gallus)
Aves CYB5A 36
  • 76.61 (n)
  • 79.03 (a)
CYB5A 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYB5A 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyb5a 36
  • 73.48 (n)
  • 78.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cyb5a 36
  • 65.35 (n)
  • 69.29 (a)
cyb5a 37
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007121 36
  • 56.64 (n)
  • 47.97 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3566 37
  • 38 (a)
ManyToMany
CG5157 37
  • 31 (a)
ManyToMany
CG6870 37
  • 26 (a)
ManyToMany
Cyt-b5 36
  • 54.69 (n)
  • 47.66 (a)
Cyt-b5 37
  • 45 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cytb-5.1 36
  • 53.49 (n)
  • 50 (a)
cytb-5.1 37
  • 45 (a)
ManyToMany
cytb-5.2 37
  • 34 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB5 37
  • 30 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CB5-E 36
  • 54.02 (n)
  • 44.83 (a)
rice
(Oryza sativa)
Liliopsida Os10g0518200 36
  • 58.44 (n)
  • 50.62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7428 37
  • 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

Selected 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 MAF
rs888495 -- 74,284,839(-) ACATC(C/T)GTAGA intron-variant
rs1054236 -- 74,265,963(-) CATGG(C/T)TTGCA intron-variant
rs1256858 -- 74,267,022(+) TATTT(C/T)CCTTG intron-variant
rs1362875 -- 74,288,793(-) CTTCC(C/T)AGCCC intron-variant
rs1558948 -- 74,286,356(-) TTCAC(A/T)TGAAA 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

Relevant External Links for CYB5A Gene

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

Disorders for CYB5A Gene

(1) OMIM Diseases for CYB5A Gene (613218)

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.

(1) University of Copenhagen DISEASES for CYB5A Gene

(6) Novoseek inferred disease relationships for CYB5A Gene

Disease -log(P) Hits PubMed IDs
methemoglobinemia hereditary 75.8 1
adenoma adrenocortical 45 6
cushing syndrome 21.9 7
tumors 3.37 3
shock 0 2
genes like me logo Genes that share disorders with CYB5A: view

Publications for CYB5A Gene

  1. Characterization of the covalent cross-links of the active sites of amidinated cytochrome b5 and NADH:cytochrome b5 reductase. (PMID: 2123873) Strittmatter P. … Ozols J. (J. Biol. Chem. 1990) 3 23
  2. The carboxy-terminal 10 amino acid residues of cytochrome b5 are necessary for its targeting to the endoplasmic reticulum. (PMID: 1396600) Mitoma J. … Ito A. (EMBO J. 1992) 3 23
  3. Control of androgen biosynthesis in the human through the interaction of Arg347 and Arg358 of CYP17 with cytochrome b5. (PMID: 9601054) Lee-Robichaud P. … Akhtar M. (Biochem. J. 1998) 3 23
  4. The influence of mutation at Glu44 and Glu56 of cytochrome b5 on the protein's stabilization and interaction between cytochrome c and cytochrome b5. (PMID: 9760250) Qian W. … Huang Z.X. (Biochemistry 1998) 3 23
  5. Charged amino acids at the carboxyl-terminal portions determine the intracellular locations of two isoforms of cytochrome b5. (PMID: 9813010) Kuroda R. … Ito A. (J. Biol. Chem. 1998) 3 23

Products for CYB5A Gene

Sources for CYB5A Gene

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