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

C1orf172 Gene

protein-coding   GIFtS: 40
GCID: GC01M027276

Chromosome 1 Open Reading Frame 172

  Search for C1orf172
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 1 Open Reading Frame 1721 2
RP11-344H11.32
Uncharacterized Protein C1orf1722

External Ids:    HGNC: 266241   Entrez Gene: 1266952   Ensembl: ENSG000001757077   UniProtKB: Q8NAX23   

Export aliases for C1orf172 gene to outside databases

Previous GC identifers: GC01M026961 GC01M027148 GC01M025529


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

GeneCards Summary for C1orf172 Gene: 
C1orf172 (chromosome 1 open reading frame 172) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf172 gene promoter:
         Max1   AML1a   Olf-1   HNF-4alpha2   AP-4   HNF-4alpha1   PPAR-alpha   Zic3   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf172

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf172


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

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.11

C1orf172 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf172 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M027276:  view genomic region     (about GC identifiers)

Start:
27,276,047 bp from pter      End:
27,286,901 bp from pter
Size:
10,855 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CA172_HUMAN, Q8NAX2 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf172  
Size: 398 amino acids; 43642 Da
Sequence caution: Sequence=AAH33143.1; Type=Erroneous initiation;
Secondary accessions: Q5QP32 Q8N0S7

Explore the universe of human proteins at neXtProt for C1orf172: NX_Q8NAX2

Explore proteomics data for C1orf172 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NAX2

  • C1orf172 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf172 Protein Expression
    REFSEQ proteins: NP_689578.2  
    ENSEMBL proteins: 
     ENSP00000319179  

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

    ProtoNet protein and cluster: Q8NAX2


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1orf172

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C1orf172 (CA172)

    Search CenterWatch for drugs/clinical trials and news about C1orf172 / CA172

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C1orf172 gene: 
    NM_152365.2  

    Unigene Cluster for C1orf172:

    Chromosome 1 open reading frame 172
    Hs.188881  [show with all ESTs]
    Unigene Representative Sequence: NM_152365
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000320567(uc001bni.2)
    miRNA
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    Additional mRNA sequence: 

    AK091952.1 BC033143.1 CR749558.1 

    1 DOTS entry:

    DT.97789783 

    24/28 AceView cDNA sequences (see all 28):

    BX110746 BM823479 BC033143 AW589267 AA316608 AI702452 BM460277 AW732798 
    CR749558 AI925416 AX747274 BQ691555 NM_152365 BM750392 AW008047 AK091952 
    BE901537 BE741035 BE162756 AA573775 AI216202 CD702656 BG998476 BE741110 

    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™, 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

    C1orf172 expression in normal human tissues (normalized intensities)      C1orf172 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCACAGTTT
    C1orf172 Expression
    About this image


    C1orf172 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Kidney (Urinary System)
             Renal Collecting Duct System
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)

    See C1orf172 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf172

    SOURCE GeneReport for Unigene cluster: Hs.188881
        SABiosciences Custom PCR Arrays for C1orf172
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf172

    (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 C1orf172 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1810019J16Rik1 , 5 RIKEN cDNA 1810019J16 gene1, 5 86.57(n)1
    91.44(a)1
      4 (66.25 cM)5
    690731  NM_001083916.11  NP_001077385.11 
     1335189635 
    chicken
    (Gallus gallus)
    Aves C23H1orf1721 chromosome 23 open reading frame, human C1orf172 66.89(n)
    64.36(a)
      769268  XM_001232502.1  XP_001232503.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1ORF1726
    Uncharacterized protein
    51(a)
    1 ↔ 1
    GL343488.1(208809-219394)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7979231 uncharacterized protein C1orf172 homolog 50.22(n)
    38.24(a)
      797923  XM_001338342.4  XP_001338378.2 


    ENSEMBL Gene Tree for C1orf172 (if available)
    TreeFam Gene Tree for C1orf172 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1orf172 gene
    1 SIMAP similar gene for C1orf172 using alignment to 1 protein entry:     CA172_HUMAN:
    DKFZp686B17277

    C1orf172 for paralogs           About GeneDecksing



    (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) 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

    10/279 SNPs in C1orf172 are shown (see all 279)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356164
    A colorectal cancer sample4--see VAR_0356162 R H mis40--------
    rs1484007561,2
    --27275550(+) GCCAAC/GATTGT 1 -- ds50010--------
    rs359616671,2
    C,F--27275558(+) TGTGCC/TATTGC 1 -- ds50014Minor allele frequency- T:0.03NA 126
    rs1451421731,2
    --27275578(+) GCTTGA/GGCAAC 1 -- ds50010--------
    rs343257141,2
    C--27275628(+) AAAAA-/A/AA  
            
    CCACA
    1 -- ds50011NA 2
    rs1839182331,2
    --27275784(+) CAGTTC/TGGACA 1 -- ds50010--------
    rs750957891,2
    F--27275790(+) GGACAG/TGCCTC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1475769751,2
    --27275927(+) ATTTTA/CTCCTT 1 -- ds50010--------
    rs1888598621,2
    --27275953(+) GGGCAC/GTAAGC 1 -- ds50010--------
    rs1924016041,2
    --27276409(+) GCACAG/TGGTCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for C1orf172 (27276047 - 27286901 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C1orf172:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv508689CNV Loss20534489
    nsv834524CNV Gain+Loss17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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 C1orf172 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C1orf172)
        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 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. 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)
    4. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (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)

    (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: 126695 HGNC: 26624 AceView: FLJ34633 Ensembl:ENSG00000175707 euGenes: HUgn126695
    ECgene: C1orf172 H-InvDB: C1orf172

    (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 C1orf172 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 C1orf172 gene:
    Search GeneIP for patents involving C1orf172

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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