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CYB561D2 cytochrome b561 family member D2 [ Homo sapiens (human) ]

Gene ID: 11068, updated on 17-Jun-2024

Summary

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Official Symbol
CYB561D2provided by HGNC
Official Full Name
cytochrome b561 family member D2provided by HGNC
Primary source
HGNC:HGNC:30253
See related
Ensembl:ENSG00000114395 MIM:607068; AllianceGenome:HGNC:30253
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
101F6; TSP10; TSCytb; XXcos-LUCA11.4
Summary
Enables heme binding activity and transmembrane monodehydroascorbate reductase activity. Involved in ascorbate homeostasis. Predicted to be located in vesicle. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung (RPKM 11.2), colon (RPKM 6.6) and 25 other tissues See more
Orthologs
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Genomic context

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See CYB561D2 in Genome Data Viewer
Location:
3p21.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50350862..50368197)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50380585..50397917)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50388293..50405628)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50377372-50378195 and GRCh37_chr3:50378196-50379018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50380164-50380746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50382474-50383024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50383025-50383575 Neighboring gene CYB561D2-LOC101928965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19905 Neighboring gene zinc finger MYND-type containing 10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50396255-50397145 Neighboring gene NPR2 like, GATOR1 complex subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50401999-50402580 and GRCh37_chr3:50402581-50403164 Neighboring gene uncharacterized LOC101928965 Neighboring gene transmembrane protein 115 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50408702-50409233 Neighboring gene calcium voltage-gated channel auxiliary subunit alpha2delta 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70577 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_70587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50425193-50425797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50425798-50426402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50426403-50427007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50431709-50432264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50432265-50432820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50432821-50433375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50437650-50438150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50438151-50438651 Neighboring gene MPRA-validated peak4651 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50449343-50449842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50455687-50456623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50461353-50461897 Neighboring gene RNA, 5S ribosomal pseudogene 131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50469412-50469992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50469993-50470573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50484381-50484882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50491070-50491624 Neighboring gene uncharacterized LOC105377082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50492179-50492733 Neighboring gene uncharacterized LOC124909378

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. Functional characterization of the recombinant human tumour suppressor 101F6 protein, a cytochrome b(561) homologue. Recuenco MC, et al. J Biochem, 2013 Feb. PMID 23235316
  2. Functional expression and characterization of human 101F6 protein, a homologue of cytochrome b561 and a candidate tumor suppressor gene product. Recuenco MC, et al. Biofactors, 2008. PMID 19734123
  3. Dominant-negative cyclin-selective ubiquitin carrier protein E2-C/UbcH10 blocks cells in metaphase. Townsley FM, et al. Proc Natl Acad Sci U S A, 1997 Mar 18. PMID 9122200, Free PMC Article
  4. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. Asard H, et al. Antioxid Redox Signal, 2013 Sep 20. PMID 23249217, Free PMC Article
  5. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Lerman MI, et al. Cancer Res, 2000 Nov 1. PMID 11085536

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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

Readthrough LOC127898564

Readthrough gene: LOC127898564, Included gene: LOC101928965

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 ascorbate ferrireductase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables transmembrane monodehydroascorbate reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ascorbate homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
transmembrane reductase CYB561D2
Names
cytochrome b561 domain-containing protein 2
putative tumor suppressor protein 101F6
transmembrane ascorbate ferrireductase
tumor suppressor cytochrome b561
NP_001278213.1
NP_001401634.1
NP_001401635.1
NP_001401636.1
NP_001401637.1
NP_001401638.1
NP_001401639.1
NP_001401640.1
NP_001401641.1
NP_001401642.1
NP_001401643.1
NP_008953.1

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_001291284.2 → NP_001278213.1  transmembrane reductase CYB561D2 isoform 1

    See identical proteins and their annotated locations for NP_001278213.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the protein.
    Source sequence(s)
    AC002481, AF040704, BC047691
    Consensus CDS
    CCDS2827.1
    UniProtKB/Swiss-Prot
    A8K552, O14569
    Related
    ENSP00000400454.1, ENST00000425346.6
    Conserved Domains (1) summary
    cd08761
    Location:25 → 205
    Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product

  2. NM_001414705.1 → NP_001401634.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569

  3. NM_001414706.1 → NP_001401635.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569
    Related
    ENSP00000410663.1, ENST00000424512.5

  4. NM_001414707.1 → NP_001401636.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569
    Related
    ENSP00000391209.1, ENST00000418577.1

  5. NM_001414708.1 → NP_001401637.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569

  6. NM_001414709.1 → NP_001401638.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569

  7. NM_001414710.1 → NP_001401639.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569

  8. NM_001414711.1 → NP_001401640.1  transmembrane reductase CYB561D2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC002481
    UniProtKB/Swiss-Prot
    A8K552, O14569

  9. NM_001414712.1 → NP_001401641.1  transmembrane reductase CYB561D2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC002481

  10. NM_001414713.1 → NP_001401642.1  transmembrane reductase CYB561D2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC002481

  11. NM_001414714.1 → NP_001401643.1  transmembrane reductase CYB561D2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC002481

  12. NM_007022.5 → NP_008953.1  transmembrane reductase CYB561D2 isoform 1

    See identical proteins and their annotated locations for NP_008953.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the protein.
    Source sequence(s)
    AC002481, BC047691
    Consensus CDS
    CCDS2827.1
    UniProtKB/Swiss-Prot
    A8K552, O14569
    Related
    ENSP00000232508.5, ENST00000232508.9
    Conserved Domains (1) summary
    cd08761
    Location:25 → 205
    Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    50350862..50368197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50380585..50397917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14569.1 GenPept UniProtKB/Swiss-Prot:O14569

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