Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CYB5RL Gene

Aliases for CYB5RL Gene

  • Cytochrome B5 Reductase Like 2 3 5
  • Cytochrome B5 Reductase-Like 2
  • EC 1.6.2.2 4

External Ids for CYB5RL Gene

Previous GeneCards Identifiers for CYB5RL Gene

  • GC01M054410
  • GC01M054609
  • GC01M052753

Summaries for CYB5RL Gene

GeneCards Summary for CYB5RL Gene

CYB5RL (Cytochrome B5 Reductase Like) is a Protein Coding gene. Among its related pathways are Metabolism and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and cytochrome-b5 reductase activity, acting on NAD(P)H. An important paralog of this gene is ENSG00000256407.

UniProtKB/Swiss-Prot for CYB5RL Gene

  • NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Additional gene information for CYB5RL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5RL Gene

Genomics for CYB5RL Gene

GeneHancer (GH) Regulatory Elements for CYB5RL Gene

Promoters and enhancers for CYB5RL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I054198 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.9 -0.2 -194 2.9 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B CYB5RL ENSG00000256407 MRPL37 MAGOH NDC1 LRRC42 PIR51493
GH01I054195 Promoter 0.6 EPDnew 550.8 +4.4 4386 0.1 ZNF600 CYB5RL ENSG00000256407 MRPL37
GH01I053237 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 21.5 +961.5 961475 2 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 MAGOH LOC100507564 C1orf123 NDC1 CYB5RL ZCCHC11 ENSG00000230953 SSBP3-AS1 ENSG00000236723 LRP8
GH01I054051 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.9 +146.9 146919 3.7 DMAP1 YY1 SLC30A9 E2F8 ZNF416 ZNF143 ZNF548 SP3 NFYC SSRP1 TCEANC2 MIR4781 TMEM59 MAGOH NDC1 SSBP3-AS1 HSPB11 LRRC42 PARS2 CYB5RL
GH01I053835 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.6 +362.9 362941 4.1 MLX DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D NDC1 MAGOH SSBP3-AS1 HSPB11 LRRC42 ECHDC2 ENSG00000256407 CYB5RL C1orf123 ENSG00000279049
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYB5RL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYB5RL gene promoter:

Genomic Locations for CYB5RL Gene

Genomic Locations for CYB5RL Gene
chr1:54,169,651-54,200,073
(GRCh38/hg38)
Size:
30,423 bases
Orientation:
Minus strand
chr1:54,638,009-54,665,746
(GRCh37/hg19)

Genomic View for CYB5RL Gene

Genes around CYB5RL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5RL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5RL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5RL Gene

Proteins for CYB5RL Gene

  • Protein details for CYB5RL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IPT4-NB5R5_HUMAN
    Recommended name:
    NADH-cytochrome b5 reductase-like
    Protein Accession:
    Q6IPT4
    Secondary Accessions:
    • B7ZBS4
    • Q8NF25

    Protein attributes for CYB5RL Gene

    Size:
    315 amino acids
    Molecular mass:
    35892 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03437.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CD515193; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for CYB5RL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5RL Gene

Post-translational modifications for CYB5RL Gene

No Post-translational modifications

No data available for DME Specific Peptides for CYB5RL Gene

Domains & Families for CYB5RL Gene

Gene Families for CYB5RL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CYB5RL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IPT4

UniProtKB/Swiss-Prot:

NB5R5_HUMAN :
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Family:
  • Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
genes like me logo Genes that share domains with CYB5RL: view

Function for CYB5RL Gene

Molecular function for CYB5RL Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
UniProtKB/Swiss-Prot Function:
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Enzyme Numbers (IUBMB) for CYB5RL Gene

Phenotypes From GWAS Catalog for CYB5RL Gene

Gene Ontology (GO) - Molecular Function for CYB5RL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H TAS --
GO:0016491 oxidoreductase activity IBA,IEA --
genes like me logo Genes that share ontologies with CYB5RL: view

Phenotypes for CYB5RL Gene

GenomeRNAi human phenotypes for CYB5RL:
genes like me logo Genes that share phenotypes with CYB5RL: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CYB5RL Gene

Localization for CYB5RL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYB5RL gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 2
nucleus 2
cytosol 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYB5RL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CYB5RL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CYB5RL Gene

Pathways & Interactions for CYB5RL Gene

genes like me logo Genes that share pathways with CYB5RL: view

Pathways by source for CYB5RL Gene

Interacting Proteins for CYB5RL Gene

Gene Ontology (GO) - Biological Process for CYB5RL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015701 bicarbonate transport TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYB5RL: view

No data available for SIGNOR curated interactions for CYB5RL Gene

Drugs & Compounds for CYB5RL Gene

(3) Drugs for CYB5RL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
NADH Approved Nutra 0
NAD Pharma Full agonist, Agonist 0

(1) Additional Compounds for CYB5RL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CYB5RL: view

Transcripts for CYB5RL Gene

mRNA/cDNA for CYB5RL Gene

(4) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYB5RL Gene

Cytochrome b5 reductase-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5RL Gene

No ASD Table

Relevant External Links for CYB5RL Gene

GeneLoc Exon Structure for
CYB5RL
ECgene alternative splicing isoforms for
CYB5RL

Expression for CYB5RL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYB5RL Gene

NURSA nuclear receptor signaling pathways regulating expression of CYB5RL Gene:

CYB5RL

SOURCE GeneReport for Unigene cluster for CYB5RL Gene:

Hs.591426

Evidence on tissue expression from TISSUES for CYB5RL Gene

  • Spleen(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CYB5RL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5RL Gene

Orthologs for CYB5RL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CYB5RL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYB5RL 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia CYB5RL 33 34
  • 86.2 (n)
rat
(Rattus norvegicus)
Mammalia Cyb5rl 33
  • 82.23 (n)
mouse
(Mus musculus)
Mammalia Cyb5rl 33 16 34
  • 80.86 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001815 33
  • 44.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7914 33
  • 44.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 34
  • 26 (a)
ManyToMany
PGA3 34
  • 20 (a)
ManyToMany
AIM33 34
  • 19 (a)
ManyToMany
Species where no ortholog for CYB5RL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CYB5RL Gene

ENSEMBL:
Gene Tree for CYB5RL (if available)
TreeFam:
Gene Tree for CYB5RL (if available)

Paralogs for CYB5RL Gene

Paralogs for CYB5RL Gene

(1) SIMAP similar genes for CYB5RL Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CYB5RL: view

Variants for CYB5RL Gene

Sequence variations from dbSNP and Humsavar for CYB5RL Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000084632 -- 54,202,070(-) G/A upstream_transcript_variant
rs1000196634 -- 54,180,112(-) C/T intron_variant
rs1000220694 -- 54,197,714(-) C/T intron_variant
rs1000348010 -- 54,172,354(-) T/C 3_prime_UTR_variant
rs1000388670 -- 54,186,082(-) T/C intron_variant

Variation tolerance for CYB5RL Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.59; 93.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB5RL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5RL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CYB5RL Gene

Disorders for CYB5RL Gene

Additional Disease Information for CYB5RL

No disorders were found for CYB5RL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYB5RL Gene

Publications for CYB5RL Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  4. High-resolution whole-genome association study of Parkinson disease. (PMID: 16252231) Maraganore DM … Ballinger DG (American journal of human genetics 2005) 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for CYB5RL Gene

Sources for CYB5RL Gene

Content
Loading form....