Aliases for CYB5RL Gene

Aliases for CYB5RL Gene

  • Cytochrome B5 Reductase Like 2 3 5
  • NADH-Cytochrome B5 Reductase-Like 3 4
  • Cytochrome B5 Reductase-Like 2
  • EC 1.6.2.2 4
  • LOC606495 2
  • CYB5RL 5

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. Diseases associated with CYB5RL include Methemoglobinemia and Riboflavin Deficiency. 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 Summary 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 , Rfam classification and piRNA Summary for CYB5RL Gene

Genomics for CYB5RL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYB5RL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYB5RL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB5RL

Top Transcription factor binding sites by QIAGEN in the CYB5RL gene promoter:
  • AML1a
  • CUTL1
  • HNF-3beta
  • Pax-5
  • POU2F1
  • POU2F1a
  • RP58
  • USF-1
  • USF1

Genomic Locations for CYB5RL Gene

Latest Assembly
chr1:54,169,651-54,200,036
(GRCh38/hg38)
Size:
30,386 bases
Orientation:
Minus strand

Previous Assembly
chr1:54,635,324-54,665,703
(GRCh37/hg19 by Entrez Gene)
Size:
30,380 bases
Orientation:
Minus strand

chr1:54,638,009-54,665,709
(GRCh37/hg19 by Ensembl)
Size:
27,701 bases
Orientation:
Minus strand

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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CD515193; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CYB5RL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYB5RL Gene

Post-translational modifications for CYB5RL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • NADH-cytochrome b5 reductase-like (NB5R5_HUMAN)

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 Function:
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(III)-cytochrome b5] + NADH = 2 [Fe(II)-cytochrome b5] + H(+) + NAD(+); Xref=Rhea:RHEA:46680, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.6.2.2;.

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 IBA 21873635
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYB5RL: view

Phenotypes for CYB5RL Gene

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

Animal Models for research

  • Taconic Biosciences Mouse Models for CYB5RL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5RL

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
nucleus 4
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 0

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: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 Experimental Pharma 0

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

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

Transcripts for CYB5RL Gene

mRNA/cDNA for CYB5RL Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5RL

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

No ASD Table

Relevant External Links for CYB5RL Gene

GeneLoc Exon Structure for
CYB5RL

Expression for CYB5RL Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB5RL

SOURCE GeneReport for Unigene cluster for CYB5RL Gene:

Hs.591426

Evidence on tissue expression from TISSUES for CYB5RL Gene

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

Primer products for research

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 29 30
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYB5RL 29 30
  • 86.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyb5rl 29
  • 82.23 (n)
Mouse
(Mus musculus)
Mammalia Cyb5rl 29 16 30
  • 80.86 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 50 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 62 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 63 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001815 29
  • 44.38 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG7914 29
  • 44.36 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBR1 30
  • 26 (a)
ManyToMany
PGA3 30
  • 20 (a)
ManyToMany
AIM33 30
  • 19 (a)
ManyToMany
Species where no ortholog for CYB5RL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5RL: view image
Alliance of Genome Resources:
Additional Orthologs for CYB5RL

Paralogs for CYB5RL Gene

Paralogs for CYB5RL Gene

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

  • NB5R5_HUMAN
  • E9PL89_HUMAN
  • E9PMD3_HUMAN
  • F8VW03_HUMAN
  • F8WDU4_HUMAN
  • H0YDY7_HUMAN
genes like me logo Genes that share paralogs with CYB5RL: view

Variants for CYB5RL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB5RL Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs946448 -- p.Arg47Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYB5RL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
CYB5RL

SNP Genotyping and Copy Number Assays for research

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

MalaCards: The human disease database

(3) MalaCards diseases for CYB5RL Gene - From: COP

Disorder Aliases PubMed IDs
methemoglobinemia
riboflavin deficiency
  • rbfvd
hemoglobinopathy
  • hemoglobinopathies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYB5RL

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

No data available for 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
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4
  4. 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
  5. High-resolution whole-genome association study of Parkinson disease. (PMID: 16252231) Maraganore DM … Ballinger DG (American journal of human genetics 2005) 40

Products for CYB5RL Gene

Sources for CYB5RL Gene