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    CYB561D1 cytochrome b561 family member D1 [ Homo sapiens (human) ]

    Gene ID: 284613, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CYB561D1provided by HGNC
    Official Full Name
    cytochrome b561 family member D1provided by HGNC
    Primary source
    HGNC:HGNC:26804
    See related
    Ensembl:ENSG00000174151 AllianceGenome:HGNC:26804
    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
    Summary
    Predicted to enable heme binding activity and oxidoreductase activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CYB561D1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109494094..109500435)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109526869..109533208)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110036716..110043057)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110009101-110009600 Neighboring gene synaptophysin like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110020155-110020674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110025999-110026616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110026617-110027236 Neighboring gene ataxin 7 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1441 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110036856-110037356 Neighboring gene Sharpr-MPRA regulatory region 8825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110042111-110042610 Neighboring gene adhesion molecule with Ig like domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1155 Neighboring gene uncharacterized LOC105378893

    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 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. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. Asard H, et al. Antioxid Redox Signal, 2013 Sep 20. PMID 23249217, Free PMC Article
    2. Genome-wide association study of recurrent early-onset major depressive disorder. Shi J, et al. Mol Psychiatry, 2011 Feb. PMID 20125088, Free PMC Article
    3. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
    4. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    5. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article

    See all (13) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of recurrent early-onset major depressive disorder.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • FLJ39035, FLJ44753, MGC138204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane monodehydroascorbate reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    probable transmembrane reductase CYB561D1
    Names
    cytochrome b-561 domain containing 1
    cytochrome b561 domain-containing protein 1
    NP_001127872.1
    NP_001127874.1
    NP_001127875.1
    NP_001127876.1
    NP_872386.1

    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_001134400.2 → NP_001127872.1  probable transmembrane reductase CYB561D1 isoform 1

      See identical proteins and their annotated locations for NP_001127872.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AI375149, AK126707, AK294992, AL355145
      Consensus CDS
      CCDS44188.1
      UniProtKB/TrEMBL
      E9PQU0
      Related
      ENSP00000358884.3, ENST00000369868.7
      Conserved Domains (1) summary
      cd08761
      Location:82 → 234
      Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product

    2. NM_001134402.2 → NP_001127874.1  probable transmembrane reductase CYB561D1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region, compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AI375149, AL355145, DA054191
      Consensus CDS
      CCDS44189.1
      UniProtKB/TrEMBL
      B4E0W0
      Related
      ENSP00000377312.3, ENST00000393709.3
      Conserved Domains (1) summary
      cd08761
      Location:4 → 155
      Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product

    3. NM_001134403.2 → NP_001127875.1  probable transmembrane reductase CYB561D1 isoform 4

      See identical proteins and their annotated locations for NP_001127875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate coding region segment, which changes the reading frame, compared to variant 1. The resulting protein (isoform 4) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AI375149, AK126707, AL355145, BX647509
      Consensus CDS
      CCDS44190.1
      UniProtKB/TrEMBL
      Q6ZQS1
      Related
      ENSP00000309324.4, ENST00000310611.8

    4. NM_001134404.2 → NP_001127876.1  probable transmembrane reductase CYB561D1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate coding region segment, which changes the reading frame, and uses a different splice site in the terminal exon, compared to variant 1. The resulting protein (isoform 5) has a shorter and distinct C-terminus when it is compared to isoform 1.
      Source sequence(s)
      AI375149, AK126707, AK128798, AL355145
      Consensus CDS
      CCDS44191.1
      UniProtKB/TrEMBL
      Q6ZQS1
      Related
      ENSP00000416898.2, ENST00000430195.2

    5. NM_182580.3 → NP_872386.1  probable transmembrane reductase CYB561D1 isoform 2

      See identical proteins and their annotated locations for NP_872386.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AI375149, AK096354, AK126707, AL355145
      Consensus CDS
      CCDS800.1
      UniProtKB/Swiss-Prot
      B4DH97, E9PCM8, Q52M36, Q5T6C2, Q5T6C3, Q8N8Q1
      UniProtKB/TrEMBL
      E9PQU0
      Related
      ENSP00000413530.2, ENST00000420578.7
      Conserved Domains (1) summary
      cd08761
      Location:32 → 212
      Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109494094..109500435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109526869..109533208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8Q1.1 GenPept UniProtKB/Swiss-Prot:Q8N8Q1

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

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