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

ACN9 Gene

protein-coding   GIFtS: 45
GCID: GC07P096745

ACN9 homolog (S. cerevisiae)

 Explore 3 diseases affiliated with
ACN9 via our new
 Human Malady Compendium 
Biological research products
for ACN9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ACN9 Homolog (S. Cerevisiae)1 2
DC111
Protein ACN9 Homolog, Mitochondrial2

External Ids:    HGNC: 217521   Entrez Gene: 570012   Ensembl: ENSG000001966367   UniProtKB: Q9NRP43   

Export aliases for ACN9 gene to outside databases

Previous GC identifers: GC07P096343 GC07P096358 GC07P096357 GC07P096390 GC07P096583 GC07P091347


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACN9 gene promoter:
         AhR   Sox5   HOXA3   Lmo2   MyoD   Nkx2-5   POU3F2   Arnt   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACN9 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACN9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACN9


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

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q22.1

ACN9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACN9 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P096745:  view genomic region     (about GC identifiers)

Start:
96,745,902 bp from pter      End:
96,811,075 bp from pter
Size:
65,174 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 96,068,386-96,133,557     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACN9_HUMAN, Q9NRP4 (See protein sequence)
Recommended Name: Protein ACN9 homolog, mitochondrial precursor  
Size: 125 amino acids; 14652 Da
Subcellular location: Mitochondrion (Potential)
Secondary accessions: A4D1J3 Q75MD6

Explore the universe of human proteins at neXtProt for ACN9: NX_Q9NRP4

ACN9 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_064571.1  
ENSEMBL proteins: 
 ENSP00000414066   ENSP00000353548  

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Uscn Proteins for ACN9

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005758mitochondrial intermembrane space ISS10103055


ACN9 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for ACN9


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACN9 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR008381 ACN9

Graphical View of Domain Structure for InterPro Entry Q9NRP4

ProtoNet protein and cluster: Q9NRP4

UniProtKB/Swiss-Prot: ACN9_HUMAN, Q9NRP4
Similarity: Belongs to the ACN9 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACN9
2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACN9:
hsa-miR-4289 hsa-miR-9*
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Inhib. RNA
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACN9

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for ACN9 (ENSP000004140664) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
UNGENSP000002425764STRING: ENSP00000242576
NDUFAB1ENSP000000075164STRING: ENSP00000007516
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006111regulation of gluconeogenesis ISS--


ACN9 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACN9
Search CenterWatch for drugs/clinical trials and news about ACN9 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACN9 gene: 
NM_020186.2  

Unigene Cluster for ACN9:

ACN9 homolog (S. cerevisiae)
Hs.592269  [show with all ESTs]
Unigene Representative Sequence: BC028409
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000432641(uc003uoo.4) ENST00000489852 ENST00000360382 ENST00000479853


miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACN9:
hsa-miR-4289 hsa-miR-9*
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Inhib. RNA
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Additional cDNA sequence: 

AF201933.1 BC020621.1 BC022858.1 BC028409.1 

7 DOTS entries:

DT.311878  DT.95164351  DT.92434044  DT.121125907  DT.92434045  DT.97842098  DT.92434037 

24/109 AceView cDNA sequences (see all 109):

BF431067 BI757307 BF726604 BC020621 AI277092 BU625859 BM449806 AI147351 
AW006468 CF529807 BU784747 CD683991 BQ278235 AA889020 BC028409 AF201933 
BG166197 BM704439 AI873845 CF529956 BG618011 AA810407 BM829769 AI640867 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ACN9    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:                              
SP2:              -               


ECgene alternative splicing isoforms for ACN9

(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

ACN9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTTTCTTC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See ACN9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACN9

SOURCE GeneReport for Unigene cluster: Hs.592269
    SABiosciences Custom PCR Arrays for ACN9
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACN9

(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.

Orthologs for ACN9 gene from 6/19 species (see all 19)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Acn91 , 5 ACN9 homolog (S. cerevisiae)1, 5 84.41(n)1
83.06(a)1
  6 (2.83 cM)5
712381  NM_001077713.11  NP_001071181.11 
 69560045 
chicken
(Gallus gallus)
Aves ACN91 ACN9 homolog (S. cerevisiae) 65.3(n)
58.2(a)
  420572  XM_418673.2  XP_418673.1 
lizard
(Anolis carolinensis)
Reptilia ACN96
--
62(a)
1 ↔ 1
6(23317681-23342760)
zebrafish
(Danio rerio)
Actinopterygii acn91 ACN9 homolog (S. cerevisiae) 59.89(n)
58.47(a)
  449654  NM_001005926.2  NP_001005926.2 
fruit fly
(Drosophila melanogaster)
Insecta CG148986
--
39(a)
1 ↔ 1
3R(12307583-12308143)
worm
(Caenorhabditis elegans)
Secernentea F25H9.76
Protein F25H9.7, isoform a
31(a)
1 ↔ 1
V(13468403-13469073)


ENSEMBL Gene Tree for ACN9 (if available)
TreeFam Gene Tree for ACN9 (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for ACN9 gene

ACN9 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for ACN9
PGOHUM00000244101


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/1121 NCBI SNPs in ACN9 are shown (see all 1121    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1493131231,2
--96744068(+) GAGAAA/CATCTG 1 -- us2k10--------
rs2004055901,2
--96744144(+) AAAGG-/AAAGGT 1 -- us2k10--------
rs1446107891,2
--96744235(+) CAAGAA/GGAACA 1 -- us2k10--------
rs1485002961,2
--96744263(+) GTCAGA/GGAAAC 1 -- us2k10--------
rs1428112471,2
--96744294(+) AAACAC/TAGCTC 1 -- us2k10--------
rs760163501,2
C,F,--96744324(+) AAAAAA/GTAAAA 1 -- us2k11Minor allele frequency- G:0.02EA 120
rs1472678221,2
--96744399(+) CCACTA/GTGTCT 1 -- us2k10--------
rs1408430061,2
--96744424(+) CCCATC/TGTCTG 1 -- us2k10--------
rs1908030321,2
--96744425(+) CCATCG/TTCTGC 1 -- us2k10--------
rs1500592271,2
C,--96744432(+) TGCCA-/TTTTTG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for ACN9 (96745902 - 96811075 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ACN9
     2 CNVs: 94714 94713

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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.)
About This Section

ACN9 for disorders           About GeneDecksing

3 diseases for ACN9:    About MalaCards
acne    alcohol dependence    alcoholism

Human Genome Epidemiology (HuGE) Navigator: ACN9 (5 documents)

Export disorders for ACN9 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 ACN9 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ACN9)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
  3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
  4. Acn9 is a novel protein of gluconeogenesis that is located in the mitochondrial intermembrane space. (PubMed id 10103055)1, 9 Dennis R.A. and McCammon M.T. (1999)
  5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
  6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
  7. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
  8. A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9. (PubMed id 18163977)1 Dick D.M....Goate A. (2008)
  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. (2002)
  10. 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: 57001 HGNC: 21752 AceView: ACN9 Ensembl:ENSG00000196636 euGenes: HUgn57001
ECgene: ACN9 H-InvDB: ACN9

(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 ACN9 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 ACN9 gene:
Search GeneIP for patents involving ACN9

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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section

 
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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VWF
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von Willebrand factor
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