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

FAM5C Gene

protein-coding   GIFtS: 47
GCID: GC01M190066

family with sequence similarity 5, member C

 Explore 8 diseases affiliated with
FAM5C via our new
 Human Malady Compendium 
Biological research products
for FAM5C
    

(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 5, Member C1 2
DBCCR1L1 2 3
DBCCR1L11 2 3
BRINP31 2
DBCCR1-Like Protein 12 3
Protein FAM5C2

External Ids:    HGNC: 223931   Entrez Gene: 3394792   Ensembl: ENSG000001626707   UniProtKB: Q76B583   

Export aliases for FAM5C gene to outside databases

Previous GC identifers: GC01M186799 GC01M188333 GC01M161301


(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_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM5C gene promoter:
         LHX3b/Lhx3b   POU3F1   HNF-3beta   Nkx6-1   POU2F1   POU2F1a   LHX3a/Lhx3a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM5C promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM5C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM5C


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

Entrez Gene cytogenetic band: 1q31.1   Ensembl cytogenetic band:  1q31.1   HGNC cytogenetic band: 1q31.1

FAM5C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM5C gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M190066:  view genomic region     (about GC identifiers)

Start:
190,066,792 bp from pter      End:
190,446,759 bp from pter
Size:
379,968 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: FAM5C_HUMAN, Q76B58 (See protein sequence)
Recommended Name: Protein FAM5C precursor  
Size: 766 amino acids; 88445 Da
Subcellular location: Secreted (Potential)
Secondary accessions: B3KVP1 O95726 Q2M330

Explore the universe of human proteins at neXtProt for FAM5C: NX_Q76B58

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q76B58

  • FAM5C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_950252.1  
    ENSEMBL proteins: 
     ENSP00000356432   ENSP00000393441   ENSP00000438022  

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    Uscn Proteins for FAM5C

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0030425dendrite IEA--
    GO:0043025neuronal cell body IEA--


    FAM5C for ontologies           About GeneDecksing



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

    FAM5C for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000742 EG-like_dom
     IPR020864 MACPF

    Graphical View of Domain Structure for InterPro Entry Q76B58

    ProtoNet protein and cluster: Q76B58

    UniProtKB/Swiss-Prot: FAM5C_HUMAN, Q76B58
    Similarity: Belongs to the FAM5 family
    Similarity: Contains 1 MACPF domain


    (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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    SwitchGear 3'UTR luciferase reporter plasmidFAM5C 3' UTR sequence
    Inhib. RNA
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    (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 FAM5C

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

    2 Interacting proteins for FAM5C (Q76B583 ENSP000003564324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HGSO149643, ENSP000003312014I2D: score=1 STRING: ENSP00000331201
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development IEA--
    GO:0045786negative regulation of cell cycle IEA--


    FAM5C for ontologies           About GeneDecksing



    (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 FAM5C
    Search CenterWatch for drugs/clinical trials and news about FAM5C 

    (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 FAM5C gene: 
    NM_199051.1  

    Unigene Cluster for FAM5C:

    Family with sequence similarity 5, member C
    Hs.65765  [show with all ESTs]
    Unigene Representative Sequence: AB111893
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367462(uc001gse.1) ENST00000484105 ENST00000463404 ENST00000445957
    ENST00000534846(uc010pot.1)

    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM5C (see all 22):
    hsa-miR-642a hsa-miR-3607-3p hsa-miR-520d-5p hsa-miR-16-1* hsa-miR-218 hsa-miR-223 hsa-miR-548g hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidFAM5C 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM5C (see all 3)
    OriGene shRNA RFP: FAM5C
    OriGene siRNA: FAM5C
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM5C
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM5C (see all 4)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM5C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM5C

    Additional cDNA sequence: 

    AB111893.1 AK123024.1 AK123637.1 AK294365.1 BC105052.1 BC105054.1 U67037.1 

    4 DOTS entries:

    DT.409284  DT.121407127  DT.95176785  DT.95211313 

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

    AA953423 AB111893 AI934620 CA489081 NM_199051 AI214732 AK123637 R44837 
    BF589529 CB120579 BM991433 CB122074 AK123024 AI918244 R52543 U64597 
    R18898 U67037 U72943 CB121944 R20022 R61404 BI754453 T09353 

    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

    FAM5C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTTGCTGA

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

    About this image

    FAM5C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM5C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM5C

    SOURCE GeneReport for Unigene cluster: Hs.65765
        SABiosciences Custom PCR Arrays for FAM5C
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM5C

    (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 FAM5C gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM5C1 family with sequence similarity 5, member C 86.38(n)
    95.17(a)
      429077  XM_426633.3  XP_426633.2 
    lizard
    (Anolis carolinensis)
    Reptilia FAM5C6
    --
    --
    94(a)
    90(a)
    1 ↔ many
    1 ↔ many
    GL344143.1(8656-68224)
    GL343203.1(77856-166778)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000016031 protein FAM5C-like 72.12(n)
    77.39(a)
      100001603  XM_001341533.1  XP_001341569.1 


    ENSEMBL Gene Tree for FAM5C (if available)
    TreeFam Gene Tree for FAM5C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM5C gene
    FAM5B2  DBC12  
    2 SIMAP similar genes for FAM5C using alignment to 3 protein entries:     FAM5C_HUMAN (see all proteins):
    FAM5B    DBC1

    FAM5C for paralogs           About GeneDecksing



    (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

    10/5910 NCBI SNPs in FAM5C are shown (see all 5910    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs19358811,2
    C,F,O,A,H,--190066386(-) AACCAA/GTAATC 1 -- ds5001106Minor allele frequency- G:0.17NS EA NA PA EU CA WA 7104
    rs1467196391,2
    --190066481(+) CACACC/TGATTT 1 -- ds50010--------
    rs1404422191,2
    --190066547(+) TTAATC/TACAAT 1 -- ds50010--------
    rs1863138231,2
    --190066573(+) GGTTTC/TCCAAG 1 -- ds50010--------
    rs1916053601,2
    --190066653(+) ACCTAC/TTTGGG 1 -- ds50010--------
    rs1825362801,2
    --190066722(+) AATTTC/TCCCCA 1 -- ds50010--------
    rs19358801,2
    C,F,O,A,H,--190066742(-) TGATAC/TAGTTT 1 -- ds5001108Minor allele frequency- T:0.48NS EA NA PA EU CA WA CSA 6519
    rs1872300471,2
    --190066882(+) GGAACA/GTATAA 1 -- ut310--------
    rs1905887171,2
    --190066927(+) GTCTTA/CTAGAC 1 -- ut310--------
    rs10530811,2
    --190066985(-) GACAAT/CGAATA 1 -- ut31 ese32Minor allele frequency- C:0.00MN NA 304

    HapMap Linkage Disequilibrium report for FAM5C (190066792 - 190316792 bp, first 250kb of FAM5C)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FAM5C
         2 CNVs: 53440 65473

    SABiosciences Cancer Mutation PCR Assays
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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

    FAM5C for disorders           About GeneDecksing

    8 diseases for FAM5C:    About MalaCards
    oligoastrocytoma    aggressive periodontitis    pituitary adenoma    myocardial infarction
    periodontitis    oligodendroglioma    noma    adenoma

    1 disease from the University of Copenhagen DISEASES database for FAM5C:
    Aggressive periodontitis
    Human Genome Epidemiology (HuGE) Navigator: FAM5C (4 documents)

    Export disorders for FAM5C gene to outside databases

    (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 FAM5C gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with FAM5C)
        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. Id4 and FABP7 are preferentially expressed in cells with astrocytic features in oligodendrogliomas and oligoastrocytomas. (PubMed id 16018821)1, 3 Liang Y....Gupta N. (2005)
    3. 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)
    4. Hypermethylated FAM5C and MYLK in serum as diagnosis a nd pre-warning markers for gastric cancer. (PubMed id 22377736)1 Chen L....Liu B. (2012)
    5. A preliminary study on the FAM5C expression in general ized chronic periodontitis. (PubMed id 22355820)1 Ribeiro F.V....Duarte P.M. (2012)
    6. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Genome-wide association of lipid-lowering response to statins in combined study populations. (PubMed id 20339536)1 Barber M.J....Krauss R.M. (2010)
    9. FAM5C contributes to aggressive periodontitis. (PubMed id 20383335)1 Carvalho F.M....Vieira A.R. (2010)
    10. Expression of the FAM5C in tongue squamous cell carci noma. (PubMed id 19787213)1 Kuroiwa T....Shibahara T. (2009)

    (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: 339479 HGNC: 22393 AceView: DBCCR1L Ensembl:ENSG00000162670 euGenes: HUgn339479
    ECgene: FAM5C H-InvDB: FAM5C

    (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 FAM5C 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 FAM5C gene:
    Search GeneIP for patents involving FAM5C

    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
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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