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CYB561A3 Gene

protein-coding   GIFtS: 36
GCID: GC11M061117

Cytochrome B561 Family, Member A3

(Previous names: cytochrome b, ascorbate dependent 3)
(Previous symbol: CYBASC3)
  Search for CYB561A3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome B561 Family, Member A31 2     LCYTB2 3
CYBASC31 2 3     Cytochrome B Ascorbate-Dependent Protein 32
Cytochrome B, Ascorbate Dependent 31 2     EC 1.-.-.-3
Cytochrome B561 Family Member A32 3     LCytb3
Lysosomal Cytochrome B2 3     

External Ids:    HGNC: 230141   Entrez Gene: 2200022   Ensembl: ENSG000001621447   UniProtKB: Q8NBI23   

Export aliases for CYB561A3 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CYB561A3 Gene:
CYB561A3 (cytochrome b561 family, member A3) is a protein-coding gene. GO annotations related to this gene include oxidoreductase activity. An important paralog of this gene is CYBRD1.

UniProtKB/Swiss-Prot: CYAC3_HUMAN, Q8NBI2
Function: Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the
cytoplasm. Probably uses ascorbate as electron donor (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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_167190.2  NC_018922.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CYB561A3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): CYB561A3 promoter sequence
   Search Chromatin IP Primers for CYB561A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYB561A3


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

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12.2

CYB561A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB561A3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M061117:  view genomic region     (about GC identifiers)

Start:
61,116,217 bp from pter      End:
61,129,771 bp from pter
Size:
13,555 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CYAC3_HUMAN, Q8NBI2 (See protein sequence)
Recommended Name: Cytochrome b ascorbate-dependent protein 3  
Size: 242 amino acids; 27214 Da
Cofactor: Binds 2 heme groups non-covalently (By similarity)
Secondary accessions: B3KPU2 B4DLN9 J3KQH4 Q6PK96
Alternative splicing: 2 isoforms:  Q8NBI2-1   Q8NBI2-2   

Explore the universe of human proteins at neXtProt for CYB561A3: NX_Q8NBI2

Explore proteomics data for CYB561A3 at MOPED

Post-translational modifications: 

  • N-glycosylated (By similarity)1
  • Glycosylation2 at Asn38

  • See CYB561A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001154924.1  NP_001154926.1  NP_705839.3  

    ENSEMBL proteins: 
     ENSP00000294072   ENSP00000389745   ENSP00000441834   ENSP00000445561   ENSP00000446158  
     ENSP00000437390   ENSP00000443756   ENSP00000441085   ENSP00000443321   ENSP00000438725  
     ENSP00000443005   ENSP00000437819   ENSP00000439702   ENSP00000398979  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYB: Cytochrome b genes

    3 InterPro protein domains:
     IPR004877 Cyt_b561_euk
     IPR028836 Cyb561a3
     IPR006593 Cyt_b561/ferric_Rdtase_TM

    Graphical View of Domain Structure for InterPro Entry Q8NBI2

    ProtoNet protein and cluster: Q8NBI2

    1 Blocks protein domain: IPB006593 Cytochrome b561 / ferric reductase transmembrane

    UniProtKB/Swiss-Prot: CYAC3_HUMAN, Q8NBI2
    Similarity: Contains 1 cytochrome b561 domain


    Find genes that share domains with CYB561A3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYAC3_HUMAN, Q8NBI2
    Function: Ferric-chelate reductase that reduces Fe(3+) to Fe(2+) before its transport from the endosome to the
    cytoplasm. Probably uses ascorbate as electron donor (By similarity)

         Enzyme Number (IUBMB): EC 1.-.-.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CYB561A3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CYB561A3:
     Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYB561A3
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    miRNA
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    miRTarBase miRNAs that target CYB561A3:
    hsa-mir-16-5p (MIRT031578), hsa-mir-378a-5p (MIRT043995), hsa-mir-7-5p (MIRT025675), hsa-mir-103a-3p (MIRT027100)

    Block miRNA regulation of human, mouse, rat CYB561A3 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CYAC3_HUMAN, Q8NBI2: Late endosome membrane; Multi-pass membrane protein (By similarity). Lysosome membrane;
    Multi-pass membrane protein

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane ISS--
    GO:0016021integral component of membrane IEA--
    GO:0031902late endosome membrane ISS--

    Find genes that share ontologies with CYB561A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYB561A3
    Interactions:

        Search GeneGlobe Interaction Network for CYB561A3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYB561A3 (CYAC3)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYB561A3 gene (3 alternative transcripts): 
    NM_001161452.1  NM_001161454.1  NM_153611.4  

    Unigene Cluster for CYB561A3:

    Cytochrome b561 family, member A3
    Hs.22546  [show with all ESTs]
    Unigene Representative Sequence: NM_001161454
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000294072 ENST00000540317 ENST00000447532 ENST00000536452 ENST00000546151
    ENST00000540755 ENST00000544118 ENST00000536915 ENST00000539890 ENST00000540139
    ENST00000542361 ENST00000537364 ENST00000535177(uc009yno.2) ENST00000539128
    ENST00000538263 ENST00000542411 ENST00000536687 ENST00000545361
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CYB561A3
      QuantiFast Probe-based Assays in human, mouse, rat CYB561A3

    Additional mRNA sequence: 

    AK024953.1 AK025870.1 AK056751.1 AK075559.1 AK097043.1 AK225754.1 AK297063.1 AK297084.1 
    AK310167.1 AK310976.1 AL833374.1 BC004391.1 BC014045.2 BC047710.1 

    Selected DOTS entries (see all 35):

    DT.453250  DT.120694196  DT.102839520  DT.100686561  DT.100879131  DT.95268138  DT.100805287  DT.100758991 
    DT.97860343  DT.120694362  DT.120694278  DT.120694268  DT.97860342  DT.120694260  DT.120694379  DT.92446415 
    DT.100879115  DT.120694243  DT.100038865  DT.120694386  DT.418132  DT.120694361  DT.91905992  DT.92446413 

    Selected AceView cDNA sequences (see all 437):

    BU195916 AA297912 BQ707910 BE513856 BI770223 BM460061 AI914063 BU541030 
    BQ955186 CB997399 BQ642016 NM_153611 BU507369 BQ073585 BQ675199 BU175214 
    BQ944694 BQ643496 BE260535 BG764352 BU553383 BE740840 BQ058227 BQ679733 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CYB561A3 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c ^ 11 ^ 12a ·
    SP1:                                            -     -     -     -           -                       -                       -                                 
    SP2:                                            -     -     -     -           -     -     -           -                                                         
    SP3:                                -           -     -     -     -           -                       -                                                         
    SP4:                                                              -           -                                                                                 
    SP5:                                      -     -     -     -     -     -     -                       -                                               -         

    ExUns: 12b · 12c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for CYB561A3

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYB561A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYB561A3 Expression
    About this image

    CYB561A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYB561A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22546
        Custom PCR Arrays for CYB561A3
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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYB561A3 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cybasc35
    Cyb561a31
    cytochrome b, ascorbate dependent 35
    cytochrome b561 family, member A31
    83.88(n)1
    84.71(a)1
      19 (6.60 cM)5
    2259121  NM_001282064.11  NP_001268993.11 
     105774545 
    chicken
    (Gallus gallus)
    Aves CYBASC31 cytochrome b, ascorbate dependent 3 68.8(n)
    65.3(a)
      423025  NM_001199574.1  NP_001186503.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYB561A36
    cytochrome b561 family, member A3
    49(a)
    1 ↔ 1
    GL343235.1(818837-835884)
    zebrafish
    (Danio rerio)
    Actinopterygii cyb561a3a1 cytochrome b561 family, member A3a 56.88(n)
    58.72(a)
      100002371  NM_001105584.1  NP_001099054.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG12756
    nemy6
    no extended memory
    26(a)
    24(a)
    many ↔ many
    many ↔ many
    3L(2252744-2257423)
    2R(8547002-8557722)
    worm
    (Caenorhabditis elegans)
    Secernentea F55H2.56
    F39G3.56
    (see all 3)
    Protein F39G3.5, isoform a
    (see all 3)
    27(a)
    23(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    III(9511475-9512954) WBGene00010131
    V(4722620-4724565) WBGene00018210
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYB-11 CYB-1 46.48(n)
    41.11(a)
      833853  NM_123224.3  NP_198679.1 


    ENSEMBL Gene Tree for CYB561A3 (if available)
    TreeFam Gene Tree for CYB561A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYB561A3 gene
    CYBRD12  CYB5612  
    2 SIMAP similar genes for CYB561A3 using alignment to 12 protein entries:     CYAC3_HUMAN (see all proteins):
    CYBRD1    CYB561

    Find genes that share paralogs with CYB561A3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYB561A3 (see all 231)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs79494791,2
    C,F,H--61116780(+) GAACCC/GCTCTG 3 -- ut31 ese34Minor allele frequency- G:0.00NS EA 416
    rs1873830961,2
    --61116793(+) GGTGGC/TAGTGG 3 -- ut310--------
    rs1909496771,2
    --61117067(+) AGACAC/TGTAAG 3 -- ut310--------
    rs22903871,2
    C,H--61117215(-) GCCCAC/TGCAGC 3 -- ut31 ese34Minor allele frequency- T:0.00NS EA 414
    rs1827825681,2
    --61117231(+) CTCCCC/GCTTTC 3 -- ut310--------
    rs124198651,2
    C,F,H--61117329(+) AGCCTA/TACTGA 3 -- ut314Minor allele frequency- T:0.00NS EA 420
    rs1880927791,2
    --61117588(+) AGCAGC/TCAGAG 3 -- ut310--------
    rs112306711,2
    C,F--61117613(+) acccaG/Cgcaaa 3 -- ut31 ese31Minor allele frequency- C:0.50WA 2
    rs1474785131,2
    C--61117702(+) AGACAG/TGCAGC 3 -- ut310--------
    rs1400168631,2
    --61117732(+) GCCAGC/TACCCA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for CYB561A3 (61116217 - 61129771 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CYB561A3: --
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (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)
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    PubMed articles for CYB561A3 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with CYB561A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cytochromes b561: ascorbate-mediated trans-membrane electron transport. (PubMed id 23249217)1, 3 Asard H....BAcrczi A. (amp 2013)
    2. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)1, 2 Schroeder B.... Hasilik A. (Traffic 2007)
    3. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    7. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    8. 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. (Genome Res. 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 220002 HGNC: 23014 AceView: MGC20446 Ensembl:ENSG00000162144 euGenes: HUgn220002
    ECgene: CYB561A3 H-InvDB: CYB561A3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CYB561A3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYB561A3 gene:
    Search GeneIP for patents involving CYB561A3

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



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