C9orf174 Gene
protein-coding GIFtS: 39
GCID: GC09P100023
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|
chromosome 9 open reading frame 174(Previous name: KIAA1529 )
(Previous symbol: KIAA1529)
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Aliases
for C9orf174 gene
(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 1741 2 | | KIAA15291 2 3 | | BDAG11 2 | | DKFZp434I24201 | | Behcet'S Disease Associated Gene 12 | | Uncharacterized Protein C9orf1742 |
Export aliases for C9orf174 gene to outside databasesPrevious GC identifers: GC09U901621 GC09P069671 GC09P100006 GC09P100010 GC09P100018 GC09P100020 |
Summaries
for C9orf174 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for C9orf174 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 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:
 Search SABiosciences Regulatory transcription factor binding sites for C9orf174
Other transcription factors
Search SABiosciences Chromatin IP Primers for C9orf174
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf174 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q22.33 Ensembl cytogenetic band: 9q22.33 HGNC cytogenetic band: 9q22.33C9orf174 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P100023: view genomic region
(about GC identifiers)
Start:
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100,000,765 bp from pter |
End:
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100,140,806 bp from pter |
Size:
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140,042 bases |
Orientation:
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plus strand |
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Proteins
for C9orf174 gene
(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: CI174_HUMAN, Q9P1Z9 (See
protein sequence)Recommended Name: Uncharacterized protein C9orf174 Size: 1646 amino acids; 191100 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=BAA96053.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=CAH18175.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2KHR6 Q5VV25 Q68DP5 Q69YV9 Q6AHY0Alternative splicing: 4 isoforms: Q9P1Z9-1 Q9P1Z9-2 Q9P1Z9-3 Q9P1Z9-4 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for C9orf174: NX_Q9P1Z9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9P1Z9
C9orf174 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_065944.2
ENSEMBL proteins: ENSP00000434727 ENSP00000349562 ENSP00000378646 ENSP00000364351 ENSP00000364348 ENSP00000414000
Human Recombinant Protein Products for C9orf174:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- |
C9orf174 for ontologies About GeneDecksing
C9orf174 Antibody Products:
Assay Products for C9orf174: |
Protein
Domains /
Families
for C9orf174 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
C9orf174 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9P1Z9ProtoNet protein and cluster: Q9P1Z9 |
Function
for C9orf174 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Phenotypes:
1 GenomeRNAi human phenotype for C9orf174:
Animal Models:
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf174 |
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Pathways & Interactions
for C9orf174 gene
(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 C9orf174
2 Interacting proteins for C9orf174 (Q9P1Z93) via UniProtKB, MINT, STRING, and/or I2DAbout this table
|
Drugs & Compounds
for C9orf174 gene(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 Tocris compounds for C9orf174
Search CenterWatch for drugs/clinical trials and news about C9orf174 / CI174 
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Transcripts
for C9orf174 gene(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,
Sirion Biotech,
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 C9orf174 gene: NM_020893.2 Unigene Cluster for C9orf174: Chromosome 9 open reading frame 174 Hs.435629 [show with all ESTs]Unigene Representative Sequence: CR62745318 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000472746 ENST00000494917(uc004axf.3) ENST00000460482(uc011luv.1)
ENST00000529487 ENST00000528678 ENST00000530011 ENST00000471314 ENST00000527182
ENST00000483504 ENST00000526038 ENST00000534189 ENST00000530551 ENST00000487976
ENST00000357054 ENST00000395220(uc010msm.1) ENST00000375205 ENST00000375202(uc011lut.2 uc004axg.2 uc004axh.2)
ENST00000411667
Additional cDNA sequence: AK123391.1 AK301827.1 AK302965.1 AK303497.1 AL137557.1 BC047097.1 CR627453.1 CR749320.1 NR_036526.1 NR_036527.1 NR_036528.1 NR_036529.1 16 DOTS entries: DT.311399 DT.101963863 DT.97833594 DT.91652181 DT.95250818 DT.70105168 DT.97838091 DT.106031 DT.40113699 DT.92023757 DT.95148070 DT.65287512 DT.92451054 DT.95127021 DT.95360872 DT.75193901
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf174 (see all 7) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ |
|---|
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| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30a | · | 30b |
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| SP1: | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | | | | | | | | | |
| SP3: | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C9orf174
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Expression
for C9orf174 gene
(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
| C9orf174 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AATAAACACT
About this image
See C9orf174 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf174
SOURCE GeneReport for Unigene cluster: Hs.435629
SABiosciences Custom PCR Arrays for C9orf174
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat C9orf174 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf174 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf174 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf174 |
Orthologs
for C9orf174 gene
(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 C9orf174 gene from 4/13 species (see all 13) About this table
ENSEMBL Gene Tree for C9orf174 (if available)
TreeFam Gene Tree for C9orf174 (if available) |
Paralogs
for C9orf174 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for C9orf174 gene
2 SIMAP similar genes for C9orf174 using alignment to 4 protein entries: CI174_HUMAN (see all proteins):KIAA1529 NARF
C9orf174 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for C9orf174
PGOHUM00000248865
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Genomic Variants
for C9orf174 gene(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
| | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf174 |
|
Disorders
/ Diseases
for C9orf174 gene
(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
|
C9orf174 for disorders About GeneDecksing
3  diseases for C9orf174: About MalaCardsbehcet's disease cleft lip/palate cleft lip
Export disorders for C9orf174 gene to outside databases
|
Publications
for C9orf174 gene (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 C9orf174 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf174) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
- The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)1, 2 Bechtel S.... Schupp I. (2007)
- 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)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (2008)
- Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross- validation of MS/MS and MS/MS/MS spectra. (PubMed id 17924679)1 Yu L.-R.... Veenstra T.D. (2007)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- 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)
- The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
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External Searches for C9orf174 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C9orf174 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C9orf174 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing C9orf174 gene(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
|
| Name | Description |
| PharmGKB entry for C9orf174 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C9orf174 gene:
Search GeneIP for patents involving C9orf174
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C9orf174 gene(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C9orf174 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf174 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf174 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf174 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf174 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf174 |
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 | | | C9orf174 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf174 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for C9orf174 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C9orf174 |
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