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    CYB5A cytochrome b5 type A [ Homo sapiens (human) ]

    Gene ID: 1528, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CYB5Aprovided by HGNC
    Official Full Name
    cytochrome b5 type Aprovided by HGNC
    Primary source
    HGNC:HGNC:2570
    See related
    Ensembl:ENSG00000166347 MIM:613218; AllianceGenome:HGNC:2570
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CYB5; MCB5; METAG
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 226.1), kidney (RPKM 141.0) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYB5A in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74250846..74291963, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74478400..74519513, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (71918081..71959198, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13493 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71817752-71818951 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71822138-71823337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13494 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50247 Neighboring gene translocase of inner mitochondrial membrane 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71864836-71865492 Neighboring gene RNA, 7SL, cytoplasmic 551, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71904867-71905366 Neighboring gene Sharpr-MPRA regulatory region 12176 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:71917515-71918450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71935092-71935632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50263 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71948314-71948841 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71957777-71958384 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50301 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13495 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50307 Neighboring gene MPRA-validated peak3184 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50330 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50341 Neighboring gene chromosome 18 open reading frame 63 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50347 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_50353 and experimental_50354 Neighboring gene NANOG hESC enhancer GRCh37_chr18:72050693-72051551 Neighboring gene FAU pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. Giordano SJ, et al. Hum Genet, 1994 May. PMID 8168836
    2. CYB5A polymorphism increases androgens and reduces risk of rheumatoid arthritis in women. Stark K, et al. Arthritis Res Ther, 2015 Mar 11. PMID 25890314, Free PMC Article
    3. CYB5A and autophagy-mediated cell death in pancreatic cancer. Giovannetti E, et al. Autophagy, 2014 Apr. PMID 24448000, Free PMC Article
    4. Role of cytochrome b5 and α-tocopherol to microsomal and mitochondrial oxidation. Agadzhanyan ZS, et al. Bull Exp Biol Med, 2013 Dec. PMID 24319746
    5. Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. Kok RC, et al. J Clin Endocrinol Metab, 2010 Mar. PMID 20080843

    See all (103) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
      Title: Proteomics, modeling, and fluorescence assays delineate cytochrome b(5) residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
    2. The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b5 core to form a helical motif that is of ancient origin.
      Title: The N-terminal intrinsically disordered region of Ncb5or docks with the cytochrome b(5) core to form a helical motif that is of ancient origin.
    3. The association between CYB5A gene rs1790834 polymorphism and clinical improvement after 6 months of leflunomide treatment in women with rheumatoid arthritis.
      Title: The association between CYB5A gene rs1790834 polymorphism and clinical improvement after 6 months of leflunomide treatment in women with rheumatoid arthritis.
    4. Regulating Effect of Cytochrome b5 Overexpression on Human Breast Cancer Cells.
      Title: Regulating Effect of Cytochrome b(5) Overexpression on Human Breast Cancer Cells.
    5. An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.
      Title: An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.
    6. Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.
      Title: Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.
    7. Lack of association between CYB5A gene rs1790834 polymorphism and the response to leflunomide in women with rheumatoid arthritis.
      Title: Lack of association between CYB5A gene rs1790834 polymorphism and the response to leflunomide in women with rheumatoid arthritis.
    8. Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
      Title: Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
    9. A homodimer model can resolve the conundrum as to how cytochrome P450 oxidoreductase and cytochrome b5 compete for the same binding site on cytochrome P450c17. (Review)
      Title: A Homodimer Model Can Resolve the Conundrum as to How Cytochrome P450 Oxidoreductase and Cytochrome b5 Compete for the Same Binding Site on Cytochrome P450c17.
    10. Data suggest CYP17A1, with electron donor NADPH-P450 reductase, is inherently distributive enzyme but that some processivity is present; some 17alpha-hydroxy pregnenolone formed does not dissociate from CYP17A1 before conversion to dehydroepiandrosterone; CYB5A does not enhance reaction by decreasing k(off) of ligands of CYP17A1. (CYP17A1 = cytochrome P450, family 17, subfamily A, polypeptide 1; CYB5A = cytochrome b5)
      Title: Kinetic processivity of the two-step oxidations of progesterone and pregnenolone to androgens by human cytochrome P450 17A1.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Methemoglobinemia type 4
    MedGen: C4285231 OMIM: 250790 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome b5
    Names
    cytochrome b5 type A (microsomal)
    epididymis secretory sperm binding protein
    type 1 cyt-b5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023211.2 RefSeqGene

      Range
      5000..46117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190807.3 → NP_001177736.1  cytochrome b5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CA771478, CB112646
      Consensus CDS
      CCDS54188.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000381011.4, ENST00000397914.4
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    2. NM_001914.4 → NP_001905.1  cytochrome b5 isoform 2

      See identical proteins and their annotated locations for NP_001905.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 3' coding region, which introduces a stop codon, as compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CB112646, M60174
      Consensus CDS
      CCDS12005.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000436461.2, ENST00000494131.6
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    3. NM_148923.4 → NP_683725.1  cytochrome b5 isoform 1

      See identical proteins and their annotated locations for NP_683725.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC090398, BC015182, BG196223, CB112646
      Consensus CDS
      CCDS12004.1
      UniProtKB/Swiss-Prot
      A8MV91, F8WEU4, P00167, Q6IB14
      UniProtKB/TrEMBL
      A0A384ME44
      Related
      ENSP00000341625.4, ENST00000340533.9
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74250846..74291963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525835.3 → XP_011524137.1  cytochrome b5 isoform X1

      See identical proteins and their annotated locations for XP_011524137.1

      UniProtKB/Swiss-Prot
      P00167
      Conserved Domains (1) summary
      pfam00173
      Location:13 → 85
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74478400..74519513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318223.1 → XP_054174198.1  cytochrome b5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P00167.2 GenPept UniProtKB/Swiss-Prot:P00167

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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