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    CYB561 cytochrome b561 [ Homo sapiens (human) ]

    Gene ID: 1534, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYB561 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63432304..63446639, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64302512..64316846, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001017916.2NP_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:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product
    2. NM_001017917.2NP_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:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product
    3. NM_001330421.2NP_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_001915.4NP_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:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    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_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.