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

C9orf91 Gene

protein-coding   GIFtS: 41
GCID: GC09P117373

chromosome 9 open reading frame 91

  Search for C9orf91
in our new
 Human Malady Compendium 
Biological research products
for C9orf91
    

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

Aliases
Chromosome 9 Open Reading Frame 911 2
DKFZp547P2341
FLJ380451
RP11-402G3.22
Transmembrane Protein C9orf912

External Ids:    HGNC: 245131   Entrez Gene: 2031972   Ensembl: ENSG000001576937   UniProtKB: Q5VZI33   

Export aliases for C9orf91 gene to outside databases

Previous GC identifers: GC09P112750 GC09P114453 GC09P116413 GC09P086978


(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_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9orf91 gene promoter:
         ER-alpha   NF-1/L   HTF   HSF1 (long)   Evi-1   HSF2   HSF1short   RSRFC4   ATF6   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C9orf91

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf91


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

Entrez Gene cytogenetic band: 9q32   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q33.1

C9orf91 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf91 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P117373:  view genomic region     (about GC identifiers)

Start:
117,373,486 bp from pter      End:
117,408,703 bp from pter
Size:
35,218 bases      Orientation:
plus strand

(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: CI091_HUMAN, Q5VZI3 (See protein sequence)
Recommended Name: Transmembrane protein C9orf91  
Size: 342 amino acids; 37569 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAC04537.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A0PJA3 Q3KNS4 Q5VZI2 Q6P5Z7 Q8N1P3 Q8ND43
Alternative splicing: 3 isoforms:  Q5VZI3-1   Q5VZI3-2   Q5VZI3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C9orf91: NX_Q5VZI3

C9orf91 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_694590.2  
ENSEMBL proteins: 
 ENSP00000363161   ENSP00000288502  

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Uscn Proteins for C9orf91

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

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral to membrane IEA--


C9orf91 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for C9orf91


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

ProtoNet protein and cluster: Q5VZI3


(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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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf91

1 GenomeRNAi human phenotype for C9orf91:
 Increased gamma-H2AX phosphory 


(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 C9orf91

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

2 Interacting proteins for C9orf91 (ENSP000002885024) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ELAVL1ENSP000003852694STRING: ENSP00000385269
RELENSP000002950254STRING: ENSP00000295025
About this table

(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 C9orf91
Search CenterWatch for drugs/clinical trials and news about C9orf91 / CI091 

(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,
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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 C9orf91 gene: 
NM_153045.3  

Unigene Cluster for C9orf91:

Chromosome 9 open reading frame 91
Hs.522357  [show with all ESTs]
Unigene Representative Sequence: NM_153045
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000374049(uc004bjd.4 uc004bje.4 uc004bjf.4) ENST00000288502
ENST00000471206 ENST00000482552

miRNA
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hsa-miR-495 hsa-miR-4328 hsa-miR-130a* hsa-miR-513a-5p hsa-miR-27a hsa-miR-622 hsa-miR-452* hsa-miR-23c
SwitchGear 3'UTR luciferase reporter plasmidC9orf91 3' UTR sequence
Inhib. RNA
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf91

Additional cDNA sequence: 

AF038174.1 AK095364.1 AK098022.1 AK289383.1 AL834412.1 BC010029.2 BC019913.1 BC062550.1 
BC107133.1 BC107134.1 BX649023.1 

7 DOTS entries:

DT.92421957  DT.100720353  DT.313981  DT.121145639  DT.100707997  DT.121145615  DT.99975618 

24/115 AceView cDNA sequences (see all 115):

BI861739 NM_153045 AI263433 BC019913 C00785 BI333512 BQ100760 AK095364 
BC062550 AI263437 AW963631 BQ101205 BQ774120 BM999877 BE270032 CD366206 
F10887 AI434520 F13288 AI001920 AV655303 BU540472 BQ100895 BM661854 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf91    About this scheme

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


ECgene alternative splicing isoforms for C9orf91

(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

C9orf91 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCTGGCAG

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

About this image
See C9orf91 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf91

SOURCE GeneReport for Unigene cluster: Hs.522357
    SABiosciences Custom PCR Arrays for C9orf91
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf91

(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 chordates.

Orthologs for C9orf91 gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 6330416G13Rik1 , 5 RIKEN cDNA 6330416G13 gene1, 5 85.92(n)1
87.68(a)1
  4 (34.02 cM)5
2302791  NM_144905.31  NP_659154.21 
 635587815 
chicken
(Gallus gallus)
Aves C17H9orf911 chromosome 17 open reading frame, human C9orf91 61.04(n)
48.34(a)
  417248  XM_415524.3  XP_415524.3 
zebrafish
(Danio rerio)
Actinopterygii LOC5597891 transmembrane protein C9orf91 homolog 46.44(n)
33.9(a)
  559789  XM_683161.4  XP_688253.2 


ENSEMBL Gene Tree for C9orf91 (if available)
TreeFam Gene Tree for C9orf91 (if available) 

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

(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

10/777 NCBI SNPs in C9orf91 are shown (see all 777    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1446955091,2
C,--117371793(+) AACAA-/AAAC  
        
AAAAA
1 -- us2k10--------
rs126858691,2
H--117371796(+) aaaaaA/Caaaaa 1 -- us2k10--------
rs625788531,2
C,--117371807(+) CAAAAA/CCAAAA 1 -- us2k13Minor allele frequency- C:0.08NA WA 240
rs1465667591,2
--117371821(+) TTAGCC/TGGGAG 1 -- us2k10--------
rs1898017601,2
--117371888(+) TGAGCC/TTGAGA 1 -- us2k10--------
rs1387567971,2
--117371965(+) CCTGTC/TTCAGA 1 -- us2k10--------
rs1460772471,2
C,--117372023(+) GGAAG-/GAA   
   AGAAA
GAAAG
1 -- us2k10--------
rs767746901,2
--117372026(+) AGGAAA/GGAAAG 1 -- us2k10--------
rs2007004381,2
--117372115(+) AAGAG-/AGAA  
        
AGAAA
1 -- us2k10--------
rs1463997821,2
C,--117372133(+) GAAAG-/AAAGAGA 1 -- us2k10--------

HapMap Linkage Disequilibrium report for C9orf91 (117373486 - 117408703 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C9orf91
     1 CNV: 53071
     1 Inversion: 37325

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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
  --

(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 C9orf91 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with C9orf91)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
  2. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
  3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
  4. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
  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. (2006)
  6. 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. (2004)
  7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
  8. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (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. (2002)
  10. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1 Wiemann S.... Poustka A. (2001)

(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: 203197 HGNC: 24513 AceView: C9orf91 Ensembl:ENSG00000157693 euGenes: HUgn203197
ECgene: C9orf91 H-InvDB: C9orf91

(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 C9orf91 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 C9orf91 gene:
Search GeneIP for patents involving C9orf91

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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