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

    Gene ID: 606495, updated on 27-Nov-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, Nov 2024]
    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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    See CYB5RL in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (54169651..54200030, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (54052528..54082904, complement)
    RS_2024_09 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)

    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_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
      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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