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CYB561 cytochrome b561 [ Homo sapiens (human) ]

Gene ID: 1534, updated on 21-Dec-2019

Summary

Official Symbol
CYB561provided by HGNC
Official Full Name
cytochrome b561provided by HGNC
Primary source
HGNC:HGNC:2571
See related
Ensembl:ENSG00000008283 MIM:600019
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; ORTHYP2; CYB561A1
Expression
Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues See more
Orthologs

Genomic context

See CYB561 in Genome Data Viewer
Location:
17q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (63432304..63446306, 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 Sharpr-MPRA regulatory region 1575 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
electron transport chain NAS
Non-traceable Author Statement
more info
PubMed 
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
PubMed 
transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome b561
Names
cytochrome b-561
cytochrome b561 family, member A1
ferric-chelate reductase 2

NCBI Reference Sequences (RefSeq)

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_001017917.2NP_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, 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  cytochrome b561 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005828, BC091485, CR989466
    Consensus CDS
    CCDS82184.1
    UniProtKB/Swiss-Prot
    P49447
    UniProtKB/TrEMBL
    J3QRH5
    Related
    ENSP00000464215.1, ENST00000582997.5
  4. NM_001915.4NP_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, ENST00000360793.8
    Conserved Domains (1) summary
    cd08763
    Location:44186
    Cyt_b561_CYB561; Vertebrate cytochrome b(561), CYB561 gene product

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    63432304..63446306 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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