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C10orf129 Gene

protein-coding   GIFtS: 42
GCID: GC10P096953

Chromosome 10 Open Reading Frame 129

  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)
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Aliases
Chromosome 10 Open Reading Frame 1291 2     AMP-Binding Enzyme2
EC 6.2.1.23 8     bA310E22.32
ACSM62     EC 6.2.18
Acyl-Coenzyme A Synthetase ACSM6, Mitochondrial2     

External Ids:    HGNC: 316651   Entrez Gene: 1428272   Ensembl: ENSG000001731247   UniProtKB: Q6P4613   

Export aliases for C10orf129 gene to outside databases

Previous GC identifers: GC10P096618 GC10P096943 GC10P090581


(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 C10orf129 Gene:
C10orf129 (chromosome 10 open reading frame 129) is a protein-coding gene. Diseases associated with C10orf129 include alzheimer's disease. GO annotations related to this gene include GTP binding and butyrate-CoA ligase activity. An important paralog of this gene is ACSM5.


(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:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the C10orf129 gene promoter:
         HEN1   MyoD   IRF-1   AP-4   LCR-F1   E47   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C10orf129

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C10orf129


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

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q23.33   HGNC cytogenetic band: 10q23.33

C10orf129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C10orf129 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P096953:  view genomic region     (about GC identifiers)

Start:
96,953,957 bp from pter      End:
96,988,686 bp from pter
Size:
34,730 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, 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., 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: ACSM6_HUMAN, Q6P461 (See protein sequence)
Recommended Name: Acyl-coenzyme A synthetase ACSM6, mitochondrial precursor  
Size: 480 amino acids; 53585 Da
Cofactor: Magnesium (By similarity)
Subunit: Monomer (By similarity)
Sequence caution: Sequence=AAI04211.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI04212.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI12989.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH72344.1; Type=Erroneous gene model
prediction;
Secondary accessions: A4FU95 A4IF38 Q5VZX2 Q6ZTX1
Alternative splicing: 3 isoforms:  Q6P461-1   Q6P461-2   Q6P461-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C10orf129: NX_Q6P461

Explore proteomics data for C10orf129 at MOPED

3 DME Specific Peptides for C10orf129 (Q6P461)
 GTTGAPK  FNFAKDVLDQW  LDIYEGYGQTET 


See C10orf129 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_997204.2  
ENSEMBL proteins: 
 ENSP00000328491   ENSP00000384922   ENSP00000377573   ENSP00000340296   ENSP00000400368  

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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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1 InterPro protein domain:
 IPR000873 AMP-dep_Synth/Lig

Graphical View of Domain Structure for InterPro Entry Q6P461

ProtoNet protein and cluster: Q6P461

1 Blocks protein domain: IPB000873 AMP-binding signature

UniProtKB/Swiss-Prot: ACSM6_HUMAN, Q6P461
Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


C10orf129 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: ACSM6_HUMAN, Q6P461
Catalytic activity: ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA

     Enzyme Numbers (IUBMB): EC 6.2.1.21 2 EC 6.2.12

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0005524ATP binding IEA--
GO:0005525GTP binding IEA--
GO:0046872metal ion binding IEA--
GO:0047760butyrate-CoA ligase activity IEA--
     
C10orf129 for ontologies           About GeneDecksing


Animal Models:
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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
ACSM6_HUMAN, Q6P461: Mitochondrion (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion3
cytosol2
nucleus1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IEA--

C10orf129 for ontologies           About GeneDecksing


(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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SuperPaths for C10orf129 About    
See pathways by source

SuperPathContained pathways About
1stearate biosynthesis I (animals)
gamma-linolenate biosynthesis II (animals)0.35
eicosapentaenoate biosynthesis II (metazoa)0.00


2 BioSystems Pathways for C10orf129
    gamma-linolenate biosynthesis II (animals)
eicosapentaenoate biosynthesis II (metazoa)


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C10orf129
Interactions:

    Search GeneGlobe Interaction Network for C10orf129

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for C10orf129 (ENSP000003402964) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCSENSP000003078704STRING: ENSP00000307870
MON2ENSP000003772524STRING: ENSP00000377252
ALG6ENSP000003601494STRING: ENSP00000360149
TKTL2ENSP000002806054STRING: ENSP00000280605
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006631fatty acid metabolic process IEA--
GO:0008152metabolic process ----

C10orf129 for ontologies           About GeneDecksing



(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 C10orf129 (ACSM6)



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for C10orf129 gene: 
NM_207321.2  

Unigene Cluster for C10orf129:

Chromosome 10 open reading frame 129
Hs.134229  [show with all ESTs]
Unigene Representative Sequence: AK126134
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000327739 ENST00000404473(uc009xuu.1) ENST00000394005 ENST00000341686(uc001kke.3)
ENST00000430183
miRNA
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Additional mRNA sequence: 

AK126134.1 BC063654.1 BC104210.1 BC104211.2 BC112988.1 BC148184.1 

2 DOTS entries:

DT.91847749  DT.101958735 

7 AceView cDNA sequences:

BC063654 AK126134 NM_207321 AI080692 BX105341 BG698484 AI190959 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for C10orf129    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11
SP1:                                                                                                
SP2:                          -                                   -                                 
SP3:                                                                                      -         


ECgene alternative splicing isoforms for C10orf129

(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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C10orf129 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTTACCTCA
C10orf129 Expression
About this image

C10orf129 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C10orf129 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.134229
    Custom PCR Arrays for C10orf129
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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 animals.

Orthologs for C10orf129 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
platypus
(Ornithorhynchus anatinus)
Mammalia C10orf1296
chromosome 10 open reading frame 129
61(a)
1 ↔ 1
2(35403410-35420812)
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
37(a)
many ↔ many
GL343402.1(728096-747886)
fruit fly
(Drosophila melanogaster)
Insecta CG113916
--
15(a)
many ↔ many
3R(15604488-15606438)
worm
(Caenorhabditis elegans)
Secernentea acs-166
Protein ACS-16 (acs-16) mRNA, complete cds
13(a)
1 → many
I(1471297-1479924) WBGene00018579


ENSEMBL Gene Tree for C10orf129 (if available)
TreeFam Gene Tree for C10orf129 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C10orf129 gene
ACSM52  ACSM32  ACSS22  ACSM2A2  ACSM12  ACSM42  ACSM2B2  ACSS12  
ACSF22  
5 SIMAP similar genes for C10orf129 using alignment to 2 protein entries:     H7BXS6_HUMAN (see all proteins):
ACSM6    ACSM1    ACSM2A    ACSM2B    ACSM3

C10orf129 for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for C10orf129
PGOHUM00000239637 PGOHUM00000241755


(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 C10orf129 (see all 709)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 10 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs757042841,2
C,F--96952002(+) ATGCTA/GGTTGT 1 -- us2k13Minor allele frequency- G:0.04WA NA EA 358
rs1852901001,2
--96952004(+) GCTAGA/TTGTCT 1 -- us2k10--------
rs1181916041,2
F--96952047(+) TATGGA/TATCTC 1 -- us2k11Minor allele frequency- T:0.01EA 120
rs728206681,2
C--96952276(+) GCCCTA/GAAGAT 1 -- us2k10--------
rs1925582741,2
C--96952447(+) GGATAC/TTGGTG 1 -- us2k10--------
rs758431401,2
C,F--96952479(+) GGAAAG/CATCCA 1 -- us2k11Minor allele frequency- C:0.08EA 120
rs1382591021,2
C--96952502(+) TAGGCA/GCCATC 1 -- us2k10--------
rs1999097901,2
C--96952567(+) CTCTTC/TCCGTG 1 -- us2k10--------
rs351033391,2
C--96952570(+) TTTCC-/GTGTGTG 1 -- us2k12Minor allele frequency- GT:0.25NA 4
rs359552201,2
C,F--96952696(+) AGAGTT/CAGGCC 1 -- us2k15Minor allele frequency- C:0.13NA 128

HapMap Linkage Disequilibrium report for C10orf129 (96953957 - 96988686 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for C10orf129:    About this table    
Variant IDTypeSubtypePubMed ID
nsv825527CNV Gain20364138
nsv820063CNV Gain19587683
esv22688CNV Gain+Loss19812545

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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1 disease for C10orf129:    
About MalaCards
alzheimer's disease


C10orf129 for disorders           About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C10orf129 (1 document)

Export disorders for C10orf129 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 C10orf129 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C10orf129)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
  2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)2 Deloukas P.... Rogers J. (Nature 2004)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  5. 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)

(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: 142827 HGNC: 31665 AceView: C10orf129 Ensembl:ENSG00000173124 euGenes: HUgn142827
ECgene: C10orf129 H-InvDB: C10orf129

(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 C10orf129 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 C10orf129 gene:
Search GeneIP for patents involving C10orf129

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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