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

    Gene ID: 11068, updated on 7-Apr-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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    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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