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

Gene ID: 284613, updated on 24-Nov-2021

Summary

Official Symbol
CYB561D1provided by HGNC
Official Full Name
cytochrome b561 family member D1provided by HGNC
Primary source
HGNC:HGNC:26804
See related
Ensembl:ENSG00000174151
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
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CYB561D1 in Genome Data Viewer
Location:
1p13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109494094..109500435)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110036716..110043057)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene synaptophysin like 2 Neighboring gene ataxin 7 like 2 Neighboring gene Sharpr-MPRA regulatory region 8825 Neighboring gene adhesion molecule with Ig like domain 1 Neighboring gene uncharacterized LOC105378893

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of recurrent early-onset major depressive disorder.
GeneReviews: Not available
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001134400.2NP_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/Swiss-Prot
    Q8N8Q1
    UniProtKB/TrEMBL
    Q6ZQS1
    Related
    ENSP00000358884.3, ENST00000369868.7
    Conserved Domains (1) summary
    cd08761
    Location:82234
    Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product
  2. NM_001134402.2NP_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/Swiss-Prot
    Q8N8Q1
    Related
    ENSP00000377312.3, ENST00000393709.3
    Conserved Domains (1) summary
    cd08761
    Location:4155
    Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product
  3. NM_001134403.2NP_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_001134404.2NP_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_182580.3NP_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
    Q8N8Q1
    UniProtKB/TrEMBL
    Q6ZQS1
    Related
    ENSP00000413530.2, ENST00000420578.7
    Conserved Domains (1) summary
    cd08761
    Location:32212
    Cyt_b561_CYB561D2_like; Eukaryotic cytochrome b(561), including the CYB561D2 gene product

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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