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    CYB561 cytochrome b561 [ Homo sapiens (human) ]

    Gene ID: 1534, updated on 9-Jul-2017
    Official Symbol
    CYB561provided by HGNC
    Official Full Name
    cytochrome b561provided by HGNC
    Primary source
    HGNC:HGNC:2571
    See related
    Ensembl:ENSG00000008283 MIM:600019; Vega:OTTHUMG00000179116
    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; CYB561A1
    Orthologs
    Location:
    17q23.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (63432304..63446361, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61509665..61523724, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 Neighboring gene uncharacterized LOC105371856 Neighboring gene uncharacterized LOC107983996 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene angiotensin I converting enzyme

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI 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.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ferric-chelate reductase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane electron transfer carrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    electron transport chain NAS
    Non-traceable Author Statement
    more info
    PubMed 
    oxidation-reduction process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    cytochrome b561
    Names
    cytochrome b-561
    cytochrome b561 family, member A1
    ferric-chelate reductase 2

    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_001017916.1NP_001017916.1  cytochrome b561 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)
      AK095244, BC091485
      Consensus CDS
      CCDS11636.1
      UniProtKB/Swiss-Prot
      P49447
      UniProtKB/TrEMBL
      B3KTA1
      Related
      ENSP00000376702.1, ENST00000392976.5
      Conserved Domains (1) summary
      cd08763
      Location:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product
    2. NM_001017917.1NP_001017917.1  cytochrome b561 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
      P49447
      Related
      ENSP00000376701.2, OTTHUMP00000260716, ENST00000392975.6, OTTHUMT00000444842
      Conserved Domains (1) summary
      cd08763
      Location:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product
    3. NM_001330421.1NP_001317350.1  cytochrome b561 isoform 2

      Status: VALIDATED

      Source sequence(s)
      BC091485, CA446358, CR989466
      Consensus CDS
      CCDS82184.1
      UniProtKB/Swiss-Prot
      P49447
      UniProtKB/TrEMBL
      J3QRH5
    4. NM_001915.3NP_001906.3  cytochrome b561 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
      P49447
      Related
      ENSP00000354028.3, OTTHUMP00000260717, ENST00000360793.7, OTTHUMT00000444843
      Conserved Domains (1) summary
      cd08763
      Location:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      63432304..63446361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257091.1XP_005257148.1  cytochrome b561 isoform X2

      See identical proteins and their annotated locations for XP_005257148.1

      UniProtKB/Swiss-Prot
      P49447
      Related
      ENSP00000462325.1, OTTHUMP00000260720, ENST00000581573.5, OTTHUMT00000444846
      Conserved Domains (1) summary
      cd08763
      Location:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product
    2. XM_017024260.1XP_016879749.1  cytochrome b561 isoform X1

      Related
      ENSP00000464215.1, OTTHUMP00000260726, ENST00000582997.5, OTTHUMT00000444853
    3. XM_017024262.1XP_016879751.1  cytochrome b561 isoform X4

      UniProtKB/TrEMBL
      F5H757
      Related
      ENSP00000442773.1, OTTHUMP00000260724, ENST00000542042.5, OTTHUMT00000444850
    4. XM_017024261.1XP_016879750.1  cytochrome b561 isoform X3

      Conserved Domains (1) summary
      cd08763
      Location:44186
      Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      61573809..61587854 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.
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