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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYB5RL Gene

protein-coding   GIFtS: 39
GCID: GC01M054609

Cytochrome B5 Reductase-Like

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome B5 Reductase-Like1 2
NADH-Cytochrome B5 Reductase-Like2
EC 1.6.2.23

External Ids:    HGNC: 322201   Entrez Gene: 6064952   Ensembl: ENSG000002158837   UniProtKB: Q6IPT43   

Export aliases for CYB5RL gene to outside databases

Previous GC identifers: GC01M054410 GC01M052753


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CYB5RL Gene: 
CYB5RL (cytochrome b5 reductase-like) is a protein-coding gene. Diseases associated with CYB5RL include methemoglobinemia. GO annotations related to this gene include cytochrome-b5 reductase activity, acting on NAD(P)H. An important paralog of this gene is ENSG00000256407.

UniProtKB/Swiss-Prot: NB5R5_HUMAN, Q6IPT4
Function: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol
biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYB5RL gene promoter:
         USF1   RP58   Pax-5   AML1a   CUTL1   HNF-3beta   POU2F1   POU2F1a   USF-1   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYB5RL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

CYB5RL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5RL gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M054609:  view genomic region     (about GC identifiers)

Start:
54,638,009 bp from pter      End:
54,665,746 bp from pter
Size:
27,738 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NB5R5_HUMAN, Q6IPT4 (See protein sequence)
Recommended Name: NADH-cytochrome b5 reductase-like  
Size: 315 amino acids; 35892 Da
Cofactor: FAD (By similarity)
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=BAC03437.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CD515193; Type=Frameshift; Positions=Several;
Secondary accessions: B7ZBS4 Q8NF25
Alternative splicing: 3 isoforms:  Q6IPT4-1   Q6IPT4-3   Q6IPT4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYB5RL: NX_Q6IPT4

Explore proteomics data for CYB5RL at MOPED 

CYB5RL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

CYB5RL Protein Expression

REFSEQ proteins: NP_001026842.2  
ENSEMBL proteins: 
 ENSP00000403021   ENSP00000394709   ENSP00000431428   ENSP00000434343   ENSP00000287899  
 ENSP00000434606   ENSP00000431157   ENSP00000409075   ENSP00000438151   ENSP00000443797  
 ENSP00000383825  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
5/6 InterPro protein domains (see all 6):
 IPR017927 Fd_Rdtase_FAD-bd
 IPR008333 OxRdtase_FAD-bd_dom
 IPR001433 OxRdtase_FAD/NAD-bd
 IPR019180 Oxidoreductase-like_N
 IPR001834 NADH-Cyt_B5_reductase

Graphical View of Domain Structure for InterPro Entry Q6IPT4

ProtoNet protein and cluster: Q6IPT4

UniProtKB/Swiss-Prot: NB5R5_HUMAN, Q6IPT4
Similarity: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family
Similarity: Contains 1 FAD-binding FR-type domain
Similarity: Contains 1 Oxidoreductase-like domain


CYB5RL for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NB5R5_HUMAN, Q6IPT4
Function: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol
biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction (By similarity)
Catalytic activity: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5

     Enzyme Number (IUBMB): EC 1.6.2.21

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004128cytochrome-b5 reductase activity, acting on NAD(P)H IEA--
GO:0016491oxidoreductase activity ----
     
CYB5RL for ontologies           About GeneDecksing


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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYB5RL

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0055114oxidation-reduction process ----

CYB5RL for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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3 HMDB Compounds for CYB5RL    About this table
CompoundSynonyms CAS #PubMed Ids
FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

Search CenterWatch for drugs/clinical trials and news about CYB5RL / NB5R5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CYB5RL gene: 
NM_001031672.2  

Unigene Cluster for CYB5RL:

Cytochrome b5 reductase-like
Hs.591426  [show with all ESTs]
Unigene Representative Sequence: AK090456
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000420054(uc001cww.3) ENST00000421415(uc001cwy.4) ENST00000490863(uc009vzo.3 uc001cwx.4)
ENST00000528287 ENST00000534324 ENST00000287899 ENST00000493530 ENST00000462299
ENST00000497820 ENST00000419823 ENST00000542737 ENST00000537208 ENST00000401046

miRNA
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Additional mRNA sequence: 

AK090456.1 AK124632.1 BC012781.2 BC038388.1 BC049198.1 BC064419.1 

9 DOTS entries:

DT.40120951  DT.100022451  DT.101983645  DT.40219670  DT.409709  DT.91713877  DT.75105053  DT.91992184 
DT.91939773 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYB5RL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACAAAACCCT
CYB5RL Expression
About this image


See CYB5RL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYB5RL

SOURCE GeneReport for Unigene cluster: Hs.591426
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

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

Orthologs for CYB5RL gene from 5/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cyb5rl1 , 5 cytochrome b5 reductase-like1, 5 80.86(n)1
78.12(a)1
  4 (49.99 cM)5
2305821  NM_175471.21  NP_780680.11 
 1070669885 
chicken
(Gallus gallus)
Aves CYB5RL1 cytochrome b5 reductase-like 62.84(n)
63.28(a)
  772308  XM_001235463.1  XP_001235464.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
63(a)
1 → many
4(105001898-105022798)
fruit fly
(Drosophila melanogaster)
Insecta CG79141 CG7914 44.61(n)
28.95(a)
  32907  NM_133131.1  NP_573359.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCR16
Mitochondrial NADH-cytochrome b5 reductase, involv...
22(a)
1 → many
XI(166544-167452)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for CYB5RL gene
ENSG000002564072  
1 SIMAP similar gene for CYB5RL using alignment to 6 protein entries:     NB5R5_HUMAN (see all proteins):
CYB5R3

CYB5RL for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/522 SNPs in CYB5RL are shown (see all 522)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1151674651,2
C,F--54637544(+) ACCCGA/GCCCTG 1 -- ds50011Minor allele frequency- G:0.03WA 118
rs1471639501,2
--54637619(+) CCCCAC/TCAATG 1 -- ds50010--------
rs6708771,2
C,F,O,A,H--54637697(-) ATGTGC/TTGGCC 1 -- ds500126Minor allele frequency- T:0.32MN NS EA NA WA CSA 2669
rs1403445301,2
C--54637765(+) AATGAA/GACAAG 1 -- ds50010--------
rs1928740211,2
--54637794(+) GCCCCG/TGACTC 1 -- ds50010--------
rs1420357721,2
--54637912(+) ACAGCG/TCACTG 1 -- ds50010--------
rs66908581,2
C,F,A,H--54637915(+) GCTCAT/CTGTAG 1 -- ds500112Minor allele frequency- C:0.10NA WA CSA EA 261
rs2020618761,2
--54638006(+) GTTAA-/TTCTTT 1 -- ds50010--------
rs1415845241,2
--54638008(+) TTAAT-/CTTTTT 1 -- ds50010--------
rs2003036091,2
C--54638008(+) TTAATC/TTTTTT 1 -- ds50010--------

HapMap Linkage Disequilibrium report for CYB5RL (54638009 - 54665746 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for CYB5RL:    About this table     
Variant IDTypeSubtypePubMed ID
nsv871920CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
2 diseases for CYB5RL:    About MalaCards
methemoglobinemia    

1 disease from the University of Copenhagen DISEASES database for CYB5RL:
Methemoglobinemia

CYB5RL for disorders           About GeneDecksing

Genetic Association Database (GAD): CYB5RL

Export disorders for CYB5RL gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for CYB5RL gene integrated from 9 sources:
(articles sorted by number of sources associating them with CYB5RL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
  4. High-resolution whole-genome association study of Parkinson disease. (PubMed id 16252231)4 Maraganore D.M....Ballinger D.G. (2005)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
  6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 606495 HGNC: 32220 Ensembl:ENSG00000215883 euGenes: HUgn606495 ECgene: CYB5RL
H-InvDB: CYB5RL

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for CYB5RL Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for CYB5RL gene:
Search GeneIP for patents involving CYB5RL

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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