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

FAM131C Gene

protein-coding   GIFtS: 39
GCID: GC01M016384

family with sequence similarity 131, member C

(Previous name: chromosome 1 open reading frame 117 )
(Previous symbol: C1orf117)
  Search for FAM131C
in our new
 Human Malady Compendium 
Biological research products
for FAM131C
    

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

Aliases
Family With Sequence Similarity 131, Member C1 2
C1orf1171 2 3
FLJ367661
Chromosome 1 Open Reading Frame 1171
RP11-5P18.92
Protein FAM131C2

External Ids:    HGNC: 267171   Entrez Gene: 3484872   Ensembl: ENSG000001855197   UniProtKB: Q96AQ93   

Export aliases for FAM131C gene to outside databases

Previous GC identifers: GC01M016258 GC01M014902


(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_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM131C gene promoter:
         HFH-3   Brachyury   LCR-F1   E47   AREB6   CREB   FOXI1   POU2F1   deltaCREB   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM131C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM131C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM131C


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

FAM131C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM131C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M016384:  view genomic region     (about GC identifiers)

Start:
16,384,264 bp from pter      End:
16,400,127 bp from pter
Size:
15,864 bases      Orientation:
minus 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: F131C_HUMAN, Q96AQ9 (See protein sequence)
Recommended Name: Protein FAM131C  
Size: 280 amino acids; 30351 Da
Secondary accessions: Q5T5Q5 Q8N3X3 Q8N9P9

Explore the universe of human proteins at neXtProt for FAM131C: NX_Q96AQ9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96AQ9

  • FAM131C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_872429.2  
    ENSEMBL proteins: 
     ENSP00000364814  

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

    FAM131C for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026782 FAM131

    Graphical View of Domain Structure for InterPro Entry Q96AQ9

    ProtoNet protein and cluster: Q96AQ9

    UniProtKB/Swiss-Prot: F131C_HUMAN, Q96AQ9
    Similarity: Belongs to the FAM131 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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    hsa-miR-1224-3p hsa-miR-3919 hsa-miR-3925-5p hsa-miR-589
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    Inhib. RNA
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FAM131C


    (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 FAM131C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for FAM131C (Q96AQ93 ENSP000003648144) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJA3Q96EY13, ENSP000002623754I2D: score=3 STRING: ENSP00000262375
    MAD1L1Q9Y6D93, ENSP000003825624I2D: score=3 STRING: ENSP00000382562
    VSNL1P627603, ENSP000002951564I2D: score=3 STRING: ENSP00000295156
    GRNP287993, ENSP000000538674I2D: score=3 STRING: ENSP00000053867
    EWSR1Q018443, ENSP000003810314I2D: score=2 STRING: ENSP00000381031
    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 FAM131C
    Search CenterWatch for drugs/clinical trials and news about FAM131C / F131C 

    (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 FAM131C gene: 
    NM_182623.2  

    Unigene Cluster for FAM131C:

    Family with sequence similarity 131, member C
    Hs.126825  [show with all ESTs]
    Unigene Representative Sequence: BC037394
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375662(uc001axz.4) ENST00000494078

    miRNA
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    hsa-miR-1224-3p hsa-miR-3919 hsa-miR-3925-5p hsa-miR-589
    SwitchGear 3'UTR luciferase reporter plasmidFAM131C 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM131C (see all 4)
    OriGene shRNA RFP: FAM131C
    OriGene siRNA: FAM131C
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM131C 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM131C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM131C

    Additional cDNA sequence: 

    AK094085.1 BC016848.1 BC037394.1 

    6 DOTS entries:

    DT.102118  DT.100722130  DT.121415159  DT.121415045  DT.121415064  DT.121415170 

    24/31 AceView cDNA sequences (see all 31):

    AI690510 BC016848 BI915295 BM546083 NM_182623 AK094085 BM264211 BM263911 
    BC037394 BE672097 AL529663 AL522414 R61730 BQ067964 CA424474 AL522415 
    AA931428 AI864545 CA773504 BM807463 T10170 AW450211 AL529662 BX329825 

    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

    FAM131C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGAGAACTG

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

    About this image
    See FAM131C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM131C

    SOURCE GeneReport for Unigene cluster: Hs.126825
        SABiosciences Custom PCR Arrays for FAM131C
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM131C
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for FAM131C

    (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 FAM131C gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia FAM131C6
    --
    53(a)
    1 ↔ 1
    GL343609.1(381876-386456)
    zebrafish
    (Danio rerio)
    Actinopterygii fam131c1 family with sequence similarity 131, member C 56.81(n)
    48.28(a)
      619198  NM_001033590.1  NP_001028762.1 


    ENSEMBL Gene Tree for FAM131C (if available)
    TreeFam Gene Tree for FAM131C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM131C gene
    FAM131B2  FAM131A2  

    FAM131C for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FAM131C
    PGOHUM00000243909


    (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

    10/385 NCBI SNPs in FAM131C are shown (see all 385    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1466576641,2
    --16384333(+) AGGAGG/TGGGAG 1 -- ut310--------
    rs1880655601,2
    --16384352(+) CAGGGC/GTGAGG 1 -- ut310--------
    rs28634421,2
    C,F,A,H,--16384353(+) AGGGGC/TGAGGA 1 -- ut31 ese38Minor allele frequency- T:0.37MN WA NA CSA 333
    rs1428290931,2
    --16384381(+) AGCAGG/TTTCAG 1 -- ut310--------
    rs10550811,2
    C,F,A--16384499(-) TGTCTT/GCCCCC 1 -- ut31 ese36Minor allele frequency- G:0.42NA CSA 12
    rs74188081,2
    C,F,A,H--16384558(+) CAGACC/TCCACT 1 -- ut31 ese32Minor allele frequency- T:0.50NA 6
    rs39784721,2
    C,F,A,H--16384578(+) TCTCAG/ATTCTC 1 -- ut314Minor allele frequency- A:0.33NA 12
    rs28634431,2
    C,H,--16384656(+) AGTCCT/GTGAGT 1 -- ut31 ese32Minor allele frequency- G:0.00WA NA 4
    rs20194901,2
    C,A,H,--16384784(+) TGAGCG/ACTGGC 1 -- ut31 ese32Minor allele frequency- A:0.12NA 8
    rs66560971,2
    C,A,H,--16384801(+) CCTGCA/C/TGCACC 2 -- ut31 ese32NA 8

    HapMap Linkage Disequilibrium report for FAM131C (16384264 - 16400127 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for FAM131C
         5 CNVs: 22889 6792 97300 63115 74196

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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 FAM131C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM131C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (2012)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1 Need A.C....Goldstein D.B. (2009)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. 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)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (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: 348487 HGNC: 26717 AceView: FLJ36766 Ensembl:ENSG00000185519 euGenes: HUgn348487
    ECgene: FAM131C H-InvDB: FAM131C

    (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 FAM131C 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 FAM131C gene:
    Search GeneIP for patents involving FAM131C

    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 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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