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C12orf10 Gene

protein-coding   GIFtS: 53
GCID: GC12P053693

Chromosome 12 Open Reading Frame 10

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(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
Chromosome 12 Open Reading Frame 101 2     MSTP0242
MYG12 5     MYG2
Melanocyte Related Gene1     Melanocyte Related2
Gamm12     UPF0160 Protein MYG1, Mitochondrial2
MST0242     

External Ids:    HGNC: 175901   Entrez Gene: 603142   Ensembl: ENSG000001396377   OMIM: 6113665   UniProtKB: Q9HB073   

Export aliases for C12orf10 gene to outside databases

Previous GC identifers: GC12M054008 GC12M053803 GC12P053411 GC12P051979 GC12P050734


(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 C12orf10 Gene:
C12orf10 (chromosome 12 open reading frame 10) is a protein-coding gene.


(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_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the C12orf10 gene promoter:
         c-Fos   AP-1   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C12orf10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C12orf10


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

C12orf10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C12orf10 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P053693:  view genomic region     (about GC identifiers)

Start:
53,693,470 bp from pter      End:
53,700,965 bp from pter
Size:
7,496 bases      Orientation:
plus 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: MYG1_HUMAN, Q9HB07 (See protein sequence)
Recommended Name: UPF0160 protein MYG1, mitochondrial precursor  
Size: 376 amino acids; 42449 Da

Explore the universe of human proteins at neXtProt for C12orf10: NX_Q9HB07

Explore proteomics data for C12orf10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C12orf10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_067653.3  
    ENSEMBL proteins: 
     ENSP00000267103   ENSP00000450270   ENSP00000448433   ENSP00000455319  

    C12orf10 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for C12orf10 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003226 Met-dep_prot_hydro

    Graphical View of Domain Structure for InterPro Entry Q9HB07

    ProtoNet protein and cluster: Q9HB07

    1 Blocks protein domain: IPB003226 Metal-dependent protein hydrolase

    UniProtKB/Swiss-Prot: MYG1_HUMAN, Q9HB07
    Similarity: Belongs to the UPF0160 (MYG1) family


    Find genes that share domains with C12orf10           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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with C12orf10           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for C12orf10:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myg1):
     behavior/neurological  homeostasis/metabolism 

    Find genes that share phenotypes with C12orf10           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C12orf10
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C12orf10
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    miRNA
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    miRTarBase miRNAs that target C12orf10:
    hsa-mir-1 (MIRT023816), hsa-mir-423-5p (MIRT038066), hsa-mir-155-5p (MIRT020802), hsa-mir-484 (MIRT042055)

    Block miRNA regulation of human, mouse, rat C12orf10 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
    MYG1_HUMAN, Q9HB07: Nucleus. Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA19014353

    Find genes that share ontologies with C12orf10           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 C12orf10
    Interactions:

        Search GeneGlobe Interaction Network for C12orf10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C12orf10 (Q9HB072, 3 ENSP000002671034) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AB1P082382, 3MINT-72683 I2D: score=2 
    AURKCQ9UQB93, ENSP000003028984I2D: score=3 STRING: ENSP00000302898
    COPS5Q929053, ENSP000003505124I2D: score=1 STRING: ENSP00000350512
    RAB1AP628203I2D: score=3 
    HSP90AA1P079003I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035641locomotory exploration behavior IEA--
    GO:0043473pigmentation NAS16996721

    Find genes that share ontologies with C12orf10           About GenesLikeMe



    (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 C12orf10 (MYG1)



    (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 C12orf10 gene: 
    NM_021640.3  

    Unigene Cluster for C12orf10:

    Chromosome 12 open reading frame 10
    Hs.655988  [show with all ESTs]
    Unigene Representative Sequence: BQ073269
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267103(uc001scp.4 uc009zmx.3) ENST00000548845(uc001scq.4)
    ENST00000551670(uc010sof.1) ENST00000548632 ENST00000551131 ENST00000549488
    ENST00000547864 ENST00000550199 ENST00000549177 ENST00000547490
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C12orf10
      QuantiFast Probe-based Assays in human, mouse, rat C12orf10

    Additional mRNA sequence: 

    AF111805.1 AF289485.1 AK293449.1 BC013956.2 BC028904.1 BC051871.1 

    16 DOTS entries:

    DT.70105339  DT.452908  DT.92434503  DT.100797236  DT.100732606  DT.100030453  DT.100797230  DT.121216850 
    DT.95299047  DT.100797231  DT.100797232  DT.100797234  DT.100797235  DT.121216842  DT.86855507  DT.92325334 

    Selected AceView cDNA sequences (see all 968):

    AA176139 BM911878 BF446387 BQ028968 CB123147 BG758641 CA436662 BQ549539 
    AA595182 CB136633 NM_002624 BI758104 BQ653854 BM479785 CR597448 H45403 
    BM694079 BF939860 BE797290 BE392440 BQ086377 BQ029277 BM757732 Z44943 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C12orf10 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
    SP1:                          -                       -     -     -           -                           
    SP2:                          -                       -     -     -     -     -                           
    SP3:                                                  -     -     -           -                           
    SP4:                          -                       -     -     -                                       
    SP5:                                                                          -                           


    ECgene alternative splicing isoforms for C12orf10

    (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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    C12orf10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCGTGCCA
    C12orf10 Expression
    About this image

    C12orf10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C12orf10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655988

    UniProtKB/Swiss-Prot: MYG1_HUMAN, Q9HB07
    Tissue specificity: Ubiquitously expressed, with highest levels in testis

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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 C12orf10 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myg11 , 5 melanocyte proliferating gene 11, 5 85.51(n)1
    88.04(a)1
      15 (57.49 cM)5
    603151  NM_021713.21  NP_068359.11 
     1023317095 
    chicken
    (Gallus gallus)
    Aves C12ORF101 chromosome unknown open reading frame, human C12orf1 more 66.89(n)
    69.15(a)
      426187  XM_423851.4  XP_423851.3 
    lizard
    (Anolis carolinensis)
    Reptilia C12orf106
    chromosome 12 open reading frame 10
    66(a)
    1 ↔ 1
    GL343536.1(68510-84778)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244012 Xenopus laevis transcribed sequence with moderate similarity more 75.2(n)    BG656914.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa14e092 Transcribed sequence with weak similarity to protein more 75.27(n)    CA480612.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG119801 , 3 CG119801 41(a)3
    51.78(n)1
    44.95(a)1
      410781  NM_141600.21  NP_649857.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C27H6.81 C27H6.8 53.06(n)
    49.05(a)
      179392  NM_171524.3  NP_741610.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YER156C)4
    YER156C1
    Putative protein of unknown function; interacts with more4
    YER156C1
    52.15(n)1
    45.71(a)1
      5(484341-483325)4
    8569001, 4  NP_011083.31  NP_011083.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G419701 AT5G41970 54.71(n)
    52.06(a)
      834202  NM_123562.4  NP_199012.2 
    rice
    (Oryza sativa)
    Liliopsida Os.473982 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 70.59(n)    AK102917.1 


    ENSEMBL Gene Tree for C12orf10 (if available)
    TreeFam Gene Tree for C12orf10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C12orf10 gene
    1 SIMAP similar gene for C12orf10 using alignment to 6 protein entries:     MYG1_HUMAN (see all proteins):
    MST024

    Find genes that share paralogs with C12orf10           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for C12orf10
    PGOHUM00000239952 PGOHUM00000240002


    (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 C12orf10 (see all 152)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs348880101,2
    C--53526612(+) CTCCC-/CT/T  
            
    CTGTT
    1 -- us2k11NA 2
    rs1387015881,2
    C--53693777(+) GCATGA/CATGCC 1 -- int10--------
    rs1494051871,2
    C--53693884(+) TTAATC/TCCCTA 1 -- int10--------
    rs1390566251,2
    C--53693954(+) CGGACC/GCGGGA 2 T syn11Minor allele frequency- G:0.00NA 4522
    rs1439208951,2
    C,F--53693956(+) GACCCG/AGGATC 2 /Q /R mis11Minor allele frequency- A:0.00NA 4520
    rs1513199271,2
    F--53694005(+) GGGGGC/AGAGTA 2 /G syn11Minor allele frequency- A:0.00NA 4534
    rs1928085541,2
    C--53694028(+) ACACCA/GATATG 2 Q R mis10--------
    rs1134959401,2
    C,F--53694044(+) CACCAG/AAGGTA 2 /Q syn12Minor allele frequency- A:0.01CSA NA 4508
    rs2006920721,2
    --53694089(+) CTCAGC/GTTTCC 1 -- int10--------
    rs578201241,2
    C,F--53694140(+) CAGCGA/GAAAGA 1 -- int12Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for C12orf10 (53693470 - 53700965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C12orf10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv517066CNV Loss19592680

    Human Gene Mutation Database (HGMD): C12orf10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C12orf10
    DNA2.0 Custom Variant and Variant Library Synthesis for C12orf10

    (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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    OMIM gene information: 611366    OMIM disorders: --

    2 diseases from the University of Copenhagen DISEASES database for C12orf10:
    Vitiligo     Barrett's esophagus

    Find genes that share disorders with C12orf10           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: C12orf10 (2 documents)

    Export disorders for C12orf10 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)
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    PubMed articles for C12orf10 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with C12orf10)
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    1. Characterization of MYG1 gene and protein: subcellular distribution and function. (PubMed id 19014353)1, 2, 9 Philips M.-A.... Nielsen F.C. (Biol. Cell 2009)
    2. Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1. (PubMed id 20377893)1, 9 Philips M.A....KA/ks S. (BMC Med. Genet. 2010)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    5. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    6. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)
    10. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 60314 HGNC: 17590 AceView: PFDN5andC12orf10 Ensembl:ENSG00000139637 euGenes: HUgn60314
    ECgene: C12orf10 H-InvDB: C12orf10

    (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 C12orf10 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 C12orf10 gene:
    Search GeneIP for patents involving C12orf10

    GeneCards and IP:
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