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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
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Genomic context

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See CYB561 in Genome Data Viewer
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

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