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CYB5RL cytochrome b5 reductase like [ Homo sapiens (human) ]

Gene ID: 606495, updated on 5-Mar-2024

Summary

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Official Symbol
CYB5RLprovided by HGNC
Official Full Name
cytochrome b5 reductase likeprovided by HGNC
Primary source
HGNC:HGNC:32220
See related
Ensembl:ENSG00000215883 AllianceGenome:HGNC:32220
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 cytochrome-b5 reductase activity, acting on NAD(P)H. Predicted to be involved in bicarbonate transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 1.8), adrenal (RPKM 1.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p32.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54169651..54200030, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54052528..54082904, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54635324..54665703, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transcription elongation factor A N-terminal and central domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54576503-54576742 Neighboring gene COX7B pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54603591-54604217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54630713-54631214 Neighboring gene CUB domain containing protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:54646436-54646936 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:54652758-54652971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:54689121-54689841 Neighboring gene mitochondrial ribosomal protein L37 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:54704367-54704867 Neighboring gene SSBP3 antisense RNA 1 Neighboring gene single stranded DNA binding protein 3

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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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

General gene information

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Markers

Potential readthrough

Included gene: CDCP2

Homology

Clone Names

  • FLJ16295

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytochrome-b5 reductase activity, acting on NAD(P)H TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
involved_in bicarbonate transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
NADH-cytochrome b5 reductase-like
NP_001026842.2
NP_001340282.1
NP_001340283.1
NP_001340285.1

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_001031672.4 → NP_001026842.2  NADH-cytochrome b5 reductase-like isoform 1

    See identical proteins and their annotated locations for NP_001026842.2

    Status: VALIDATED

    Source sequence(s)
    AL357673
    Consensus CDS
    CCDS44151.1
    UniProtKB/Swiss-Prot
    B7ZBS4, Q6IPT4, Q8NF25
    Related
    ENSP00000434343.1, ENST00000534324.6
    Conserved Domains (3) summary
    cd06183
    Location:80 → 315
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
    PTZ00319
    Location:65 → 315
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
    pfam09791
    Location:19 → 51
    Oxidored-like; Oxidoreductase-like protein, N-terminal

  2. NM_001353353.2 → NP_001340282.1  NADH-cytochrome b5 reductase-like isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment (two exons) compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL357673
    Conserved Domains (2) summary
    cd06183
    Location:67 → 236
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
    pfam09791
    Location:19 → 51
    Oxidored-like; Oxidoreductase-like protein, N-terminal

  3. NM_001353354.2 → NP_001340283.1  NADH-cytochrome b5 reductase-like isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL357673, BC012781, BC049198, BX478156
    Conserved Domains (1) summary
    cd06183
    Location:2 → 167
    cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...

  4. NM_001353356.2 → NP_001340285.1  NADH-cytochrome b5 reductase-like isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and uses an alternate internal splice junction compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL357673
    Consensus CDS
    CCDS85978.1
    UniProtKB/TrEMBL
    E9PL89, E9PMD3
    Related
    ENSP00000431157.1, ENST00000497820.1
    Conserved Domains (2) summary
    pfam09791
    Location:19 → 51
    Oxidored-like; Oxidoreductase-like protein, N-terminal
    cl26810
    Location:65 → 116
    PLN02252; nitrate reductase [NADPH]

RNA

  1. NR_148414.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    BC071735, BX478156

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    54169651..54200030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    54052528..54082904 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPT4.3 GenPept UniProtKB/Swiss-Prot:Q6IPT4

Gene LinkOut

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

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