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

Gene ID: 284613, updated on 27-Nov-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, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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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
  • 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)

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 metal ion binding IEA
Inferred from Electronic Annotation
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

Gene LinkOut

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