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CYB5RL Gene(Protein Coding)

Cytochrome B5 Reductase Like

GCID:
GC01M054172
GIFtS:
41
Genes Participants
UDN Logo

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 Erythrocytes take up carbon dioxide and release oxygen and Amino sugar and nucleotide sugar metabolism. 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.

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

Products:

  1. Regulatory Element

Regulatory Elements for CYB5RL Gene

Enhancers for CYB5RL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G054218 1.4 Ensembl ENCODE dbSUPER 30.9 -20.1 -20063 3.1 ZFP64 RAD21 EGR1 ZNF354C SCRT2 EGR2 ZNF680 ZNF654 SP3 ZBTB11 SSBP3-AS1 MAGOH CYB5RL PARS2 HSPB11 C1orf123 MRPL37 CDCP2 USP24 PIR40840
GH01G053730 1.6 Ensembl ENCODE dbSUPER 9.7 +463.7 463749 10.9 FOXA2 PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 MAGOH GLIS1 RNU7-95P ENSG00000201003 PODN ENSG00000230953 CYB5RL
GH01G054198 1.1 ENCODE 13.9 -0.2 -195 2.9 PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 MAGOH CYB5RL ENSG00000256407 PIR51493
GH01G053237 1.4 FANTOM5 ENCODE 9.7 +961.5 961475 2.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A C1orf123 ZCCHC11 MAGOH ENSG00000236723 LRP8 LINC01771 ENSG00000230953 CYB5RL LOC100507564 PIR31553
GH01G054051 1.2 ENCODE 11.2 +146.9 146919 3.7 CREB3L1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC MAGOH TCEANC2 SSBP3-AS1 HSPB11 PARS2 CYB5RL C1orf123 LDLRAD1 NDC1 RPL37P7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYB5RL on UCSC Golden Path with GeneCards custom track

Promoters for CYB5RL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000006602 -227 1401 PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9

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

Genomic Location for CYB5RL Gene

Chromosome:
1
Start:
54,169,651 bp from pter
End:
54,200,073 bp from pter
Size:
30,423 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 Structure • Gene Density

RefSeq DNA sequence for CYB5RL Gene

Proteins for CYB5RL Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYB5RL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYB5RL Gene

Domains & Families for CYB5RL Gene

Protein Domains for CYB5RL Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for CYB5RL Gene

Function for CYB5RL Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

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 IEA,IBA --
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

Animal Model Products

  • Taconic Biosciences Mouse Models for CYB5RL

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for CYB5RL Gene

GO ID Qualified GO term Evidence PubMed IDs
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

1 KEGG pathway 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

Products:

  1. Drug

(3) Drugs for CYB5RL Gene - From: HMDB

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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CYB5RL Gene

(1) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for CYB5RL Gene
mRNA expression by BioGPS for CYB5RL GenemRNA expression by GTEx 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

Primer Products

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 34 35
  • 99.58 (n)
dog
(Canis familiaris)
 Mammalia CYB5RL 34 35
  • 86.2 (n)
rat
(Rattus norvegicus)
 Mammalia Cyb5rl 34
  • 82.23 (n)
mouse
(Mus musculus)
 Mammalia Cyb5rl 34 16 35
  • 80.86 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 35
  • 50 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves -- 35
  • 62 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 63 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001815 34
  • 44.38 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG7914 34
  • 44.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CBR1 35
  • 26 (a)
 ManyToMany
PGA3 35
  • 20 (a)
 ManyToMany
AIM33 35
  • 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 Sequence Context AA Info Type
rs1000084632 -- 54,202,070(+) TGATC(A/G)TGCCT intron-variant, upstream-variant-2KB
rs1000196634 -- 54,180,112(+) CACGC(C/T)TGTAG intron-variant
rs1000220694 -- 54,197,714(+) CTTTC(C/T)TAAAT intron-variant
rs1000348010 -- 54,172,354(+) TTTTT(C/T)TGTAG utr-variant-3-prime
rs1000388670 -- 54,186,082(+) TTTCA(C/T)AAATT 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)

Relevant External Links 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

Relevant External Links for CYB5RL

Genetic Association Database (GAD)
CYB5RL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64
  4. High-resolution whole-genome association study of Parkinson disease. (PMID: 16252231) Maraganore D.M. … Ballinger D.G. (Am. J. Hum. Genet. 2005) 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for CYB5RL Gene

Sources for CYB5RL Gene

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