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    CYB561 cytochrome b561 [ Homo sapiens (human) ]

    Gene ID: 1534, updated on 7-Apr-2024

    Summary

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    Official Symbol
    CYB561provided by HGNC
    Official Full Name
    cytochrome b561provided by HGNC
    Primary source
    HGNC:HGNC:2571
    See related
    Ensembl:ENSG00000008283 MIM:600019; AllianceGenome:HGNC:2571
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FRRS2; CGCytb; ORTHYP2; CYB561A1
    Summary
    Predicted to enable transmembrane monodehydroascorbate reductase activity. Predicted to be involved in ascorbate homeostasis. Predicted to be located in chromaffin granule membrane. Predicted to be active in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63432304..63446639, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64302512..64316846, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61509665..61524000, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr17:61423641-61424164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61438304-61438804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61438805-61439305 Neighboring gene DENR pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 4360 Neighboring gene uncharacterized LOC105371856 Neighboring gene Sharpr-MPRA regulatory region 7022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61503073-61503811 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61512442-61512609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61513919-61514833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61514834-61515748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61524253-61525066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61525067-61525879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61528047-61528547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61533342-61534200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61534201-61535059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61563854-61564354 Neighboring gene peptidylprolyl isomerase A pseudogene 55 Neighboring gene angiotensin I converting enzyme

    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
    • 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. Human heart rate: heritability of resting and stress values in twin pairs, and influence of genetic variation in the adrenergic pathway at a microribonucleic acid (microrna) motif in the 3'-UTR of cytochrome b561 [corrected]. Zhang K, et al. J Am Coll Cardiol, 2014 Feb 4. PMID 24140660, Free PMC Article
    2. Structure prediction for the di-heme cytochrome b561 protein family. Bashtovyy D, et al. Protoplasma, 2003 May. PMID 12768339
    3. Human cytochrome b561: a revised hypothesis for conformation in membranes which reconciles sequence and functional information. Srivastava M, et al. Biochem J, 1994 Nov 1. PMID 7980462, Free PMC Article
    4. The human cytochrome b561 gene (CYB561) is located at 17q11-qter. McBride OW, et al. Genomics, 1994 Jun. PMID 7959749
    5. Genomic structure and expression of the human gene encoding cytochrome b561, an integral protein of the chromaffin granule membrane. Srivastava M. J Biol Chem, 1995 Sep 29. PMID 7559396

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. miR-30e-5p regulates leukemia stem cell self-renewal through the Cyb561/ROS signaling pathway.
      Title: miR-30e-5p regulates leukemia stem cell self-renewal through the Cyb561/ROS signaling pathway.
    2. Comparison of insect and human cytochrome b561 proteins: Insights into candidate ferric reductases in insects.
      Title: Comparison of insect and human cytochrome b561 proteins: Insights into candidate ferric reductases in insects.
    3. Cytochrome b561 regulates iron metabolism by activating the Akt/mTOR pathway to promote Breast Cancer Cells proliferation.
      Title: Cytochrome b561 regulates iron metabolism by activating the Akt/mTOR pathway to promote Breast Cancer Cells proliferation.
    4. Mutations in CYB561 cause a novel othostatic hypotension syndrome.
      Title: Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
    5. We studied hereditary control of HR with the twin pair design, at rest and during environmental (cold) stress. Single nucleotide polymorphism disruption of a microribonucleic acid (microRNA) recognition motif in the human CYB561 3'-UTR was identified .
      Title: Human heart rate: heritability of resting and stress values in twin pairs, and influence of genetic variation in the adrenergic pathway at a microribonucleic acid (microrna) motif in the 3'-UTR of cytochrome b561 [corrected].
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiency.
    7. CYB561 is a senescene-associated gene in normal human oral keratinocytes.
      Title: Senescence-associated genes in normal human oral keratinocytes.
    8. structural features in the cyt b(561) family are well conserved at both the sequence and the protein level
      Title: Structure prediction for the di-heme cytochrome b561 protein family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Orthostatic hypotension 2
    MedGen: C4748569 OMIM: 618182 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane monodehydroascorbate reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in ascorbate homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in electron transport chain NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intracellular iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromaffin granule membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane ascorbate-dependent reductase CYB561
    Names
    chromaffin granule CYB561
    cytochrome b-561
    cytochrome b561 family, member A1
    ferric-chelate reductase 2

    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.

    mRNA and Protein(s)

    1. NM_001017916.2 → NP_001017916.1  transmembrane ascorbate-dependent reductase CYB561 isoform 1

      See identical proteins and their annotated locations for NP_001017916.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      AC005828, AK095244, BC091485
      Consensus CDS
      CCDS11636.1
      UniProtKB/Swiss-Prot
      B2RE96, B7Z775, D3DU11, P49447, Q5BJG9, Q9BU05, Q9BWR9
      UniProtKB/TrEMBL
      J3QS47
      Related
      ENSP00000376702.1, ENST00000392976.5
      Conserved Domains (1) summary
      cd08763
      Location:44 → 186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    2. NM_001017917.2 → NP_001017917.1  transmembrane ascorbate-dependent reductase CYB561 isoform 1

      See identical proteins and their annotated locations for NP_001017917.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      BC091485, BF206825
      Consensus CDS
      CCDS11636.1
      UniProtKB/Swiss-Prot
      B2RE96, B7Z775, D3DU11, P49447, Q5BJG9, Q9BU05, Q9BWR9
      UniProtKB/TrEMBL
      J3QS47
      Related
      ENSP00000376701.2, ENST00000392975.6
      Conserved Domains (1) summary
      cd08763
      Location:44 → 186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    3. NM_001330421.2 → NP_001317350.1  transmembrane ascorbate-dependent reductase CYB561 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005828, BC091485, CR989466
      Consensus CDS
      CCDS82184.1
      UniProtKB/TrEMBL
      J3QRH5, J3QS47
      Related
      ENSP00000464215.1, ENST00000582997.5

    4. NM_001915.4 → NP_001906.3  transmembrane ascorbate-dependent reductase CYB561 isoform 1

      See identical proteins and their annotated locations for NP_001906.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript. Variants 1-3 encode the same isoform (1).
      Source sequence(s)
      BC002976, BC091485, BM552101
      Consensus CDS
      CCDS11636.1
      UniProtKB/Swiss-Prot
      B2RE96, B7Z775, D3DU11, P49447, Q5BJG9, Q9BU05, Q9BWR9
      UniProtKB/TrEMBL
      J3QS47
      Related
      ENSP00000354028.3, ENST00000360793.8
      Conserved Domains (1) summary
      cd08763
      Location:44 → 186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63432304..63446639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64302512..64316846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001017918.1: Suppressed sequence

      Description
      NM_001017918.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P49447.2 GenPept UniProtKB/Swiss-Prot:P49447

    Gene LinkOut

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

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