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C9orf153 Gene

protein-coding   GIFtS: 32
GCID: GC09M088835

Chromosome 9 Open Reading Frame 153

  Search for C9orf153
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 9 Open Reading Frame 1531 2
bA507D14.12
Uncharacterized Protein C9orf1532

External Ids:    HGNC: 314561   Entrez Gene: 3897662   Ensembl: ENSG000001877537   UniProtKB: Q5TBE33   

Export aliases for C9orf153 gene to outside databases

Previous GC identifers: GC09M084293 GC09M086065 GC09M088026 GC09M058664


(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 C9orf153 Gene:
C9orf153 (chromosome 9 open reading frame 153) 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_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the C9orf153 gene promoter:
         C/EBPbeta   Sox5   p53   Nkx2-2   Pax-2   Pax-2a   Roaz   AREB6   Pax-2b   FOXO4   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C9orf153

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C9orf153


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

Entrez Gene cytogenetic band: 9q21.33   Ensembl cytogenetic band:  9q21.33   HGNC cytogenetic band: 9q22.1

C9orf153 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf153 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M088835:  view genomic region     (about GC identifiers)

Start:
88,835,180 bp from pter      End:
88,874,572 bp from pter
Size:
39,393 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: CI153_HUMAN, Q5TBE3 (See protein sequence)
Recommended Name: Uncharacterized protein C9orf153  
Size: 101 amino acids; 11254 Da
Secondary accessions: Q5TBE4
Alternative splicing: 2 isoforms:  Q5TBE3-1   Q5TBE3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C9orf153: NX_Q5TBE3

Explore proteomics data for C9orf153 at MOPED


See C9orf153 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001263295.1  NP_001263296.1  NP_001263297.1  

ENSEMBL proteins: 
 ENSP00000344865   ENSP00000365169  

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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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ProtoNet protein and cluster: Q5TBE3


(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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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 COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2

(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 C9orf153
Interactions:

    Search GeneGlobe Interaction Network for C9orf153

(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 C9orf153 (CI153)



(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 C9orf153 gene (4 alternative transcripts): 
NM_001010907.1  NM_001276366.1  NM_001276367.1  NM_001276368.1  

Unigene Cluster for C9orf153:

Chromosome 9 open reading frame 153
Hs.632073  [show with all ESTs]
Unigene Representative Sequence: BC108665
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000339137(uc004aon.3) ENST00000469914 ENST00000376001(uc004aoo.3)

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Additional mRNA sequence: BC108665.1 

5 DOTS entries:

DT.95262690  DT.95262689  DT.40125067  DT.65285751  DT.121208280 

Selected AceView cDNA sequences (see all 307):

AI383652 BM910106 BI521583 AI633528 BU681494 BQ271587 BM920292 BU150683 
BM722147 BM127834 CR604050 AA810798 AI400477 AY015642 BM452443 AA714783 
BM464477 AA419604 BM710874 BP337954 N79037 AI436792 CK903486 AW069469 

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™, 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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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

C9orf153 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C9orf153 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632073
    Custom PCR Arrays for C9orf153
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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 human and mouse.

Orthologs for C9orf153 gene from Selected species (see all 4)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 4921517D22Rik5 RIKEN cDNA 4921517D22 gene   --   13 (31.87 cM) 59687402 


ENSEMBL Gene Tree for C9orf153 (if available)
TreeFam Gene Tree for C9orf153 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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 C9orf153 (see all 828)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1426600831,2
--88834876(+) TCAAGC/TGATTC 3 -- int10--------
rs1466895971,2
--88834923(+) CACACA/GCCACC 3 -- int10--------
rs78735941,2
C,F,A,H--88835182(+) GGATCC/TGGAAA 3 -- ut316Minor allele frequency- T:0.07NS EA CSA WA 538
rs1912799621,2
--88835295(+) ATTAGC/TAGTTT 3 -- ut310--------
rs78600351,2
C,F,A,H--88835361(+) catttT/Ctattt 3 -- ut3110Minor allele frequency- C:0.11NS EA NA WA CSA 679
rs1830401021,2
--88835365(+) TTTATC/TTTACC 3 -- ut310--------
rs78737571,2
C,F,A,H--88835375(+) cccctA/Gctcct 3 -- ut317Minor allele frequency- G:0.13NS EA WA CSA 537
rs1140669111,2
C,F--88835481(+) TGAGCA/GTTCTA 3 -- ut311Minor allele frequency- G:0.08WA 118
rs2001224701,2
C--88835709(+) TCCTA-/TTTTTT 3 -- ut310--------
rs78477921,2
C,F,H--88835737(+) gtataC/Tatttc 3 -- ut317Minor allele frequency- T:0.14NS EA WA CSA 541

HapMap Linkage Disequilibrium report for C9orf153 (88835180 - 88874572 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for C9orf153:    About this table    
Variant IDTypeSubtypePubMed ID
nsv893537CNV Loss21882294
nsv893536CNV Gain21882294

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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 C9orf153 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C9orf153)
    Utopia: connect your pdf to the dynamic
world of online information

  1. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  2. 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. (Genome Res. 2004)
  3. 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: 389766 HGNC: 31456 AceView: HBLD2andC9orf153 Ensembl:ENSG00000187753 euGenes: HUgn389766
ECgene: C9orf153 H-InvDB: C9orf153

(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 C9orf153 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 C9orf153 gene:
Search GeneIP for patents involving C9orf153

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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