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

FAM111A Gene

protein-coding   GIFtS: 46
GCID: GC11P058910

family with sequence similarity 111, member A

 Explore 2 diseases affiliated with
FAM111A via our new
 Human Malady Compendium 
Biological research products
for FAM111A
    

(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 111, Member A1 2
KIAA18951 3
FLJ227941
Protein FAM111A2

External Ids:    HGNC: 247251   Entrez Gene: 639012   Ensembl: ENSG000001668017   UniProtKB: Q96PZ23   

Export aliases for FAM111A gene to outside databases

Previous GC identifers: GC11P058669 GC11P055256


(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_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM111A gene promoter:
         Max   c-Rel   SRY   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM111A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM111A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM111A


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

Entrez Gene cytogenetic band: 11q12.1   Ensembl cytogenetic band:  11q12.1   HGNC cytogenetic band: 11q12.1

FAM111A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM111A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P058910:  view genomic region     (about GC identifiers)

Start:
58,910,221 bp from pter      End:
58,922,512 bp from pter
Size:
12,292 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: F111A_HUMAN, Q96PZ2 (See protein sequence)
Recommended Name: Protein FAM111A  
Size: 611 amino acids; 70196 Da
Sequence caution: Sequence=BAB15486.1; Type=Erroneous initiation; Sequence=BAB67788.1; Type=Erroneous initiation;
Secondary accessions: A8K5Y8 Q5RKS9 Q5XKM2 Q68DK9 Q6IPR7 Q9H5Y1

Explore the universe of human proteins at neXtProt for FAM111A: NX_Q96PZ2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96PZ2

  • FAM111A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001135991.1  NP_001135992.1  NP_001135993.1  NP_071357.2  NP_942144.1  

    ENSEMBL proteins: 
     ENSP00000434435   ENSP00000436128   ENSP00000355264   ENSP00000432821   ENSP00000433154  
     ENSP00000431631   ENSP00000406683  

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    Uscn Proteins for FAM111A


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

    FAM111A for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry Q96PZ2

    ProtoNet protein and cluster: Q96PZ2

    UniProtKB/Swiss-Prot: F111A_HUMAN, Q96PZ2
    Similarity: Belongs to the FAM111 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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FAM111A:
    hsa-miR-143
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM111A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--


    FAM111A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for FAM111A:
     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 FAM111A

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FAM111A (Q96PZ23 ENSP000003552644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    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 FAM111A
    Search CenterWatch for drugs/clinical trials and news about FAM111A / F111A 

    (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 FAM111A gene (5 alternative transcripts): 
    NM_001142519.1  NM_001142520.1  NM_001142521.1  NM_022074.3  NM_198847.2  

    Unigene Cluster for FAM111A:

    Family with sequence similarity 111, member A
    Hs.150651  [show with all ESTs]
    Unigene Representative Sequence: NM_001142520
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528737(uc010rkr.2 uc001nno.3 uc001nnp.3) ENST00000532790
    ENST00000529985 ENST00000531676 ENST00000527629 ENST00000361723(uc001nnq.3)
    ENST00000531408 ENST00000529358 ENST00000533703 ENST00000531147 ENST00000420244(uc010rkp.2 uc010rkq.2)


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate FAM111A:
    hsa-miR-143
    SwitchGear 3'UTR luciferase reporter plasmidFAM111A 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FAM111A (see all 4)
    OriGene shRNA RFP: FAM111A
    OriGene siRNA: FAM111A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FAM111A
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FAM111A (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FAM111A (see all 5)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 5): FAM111A (NM_001142519)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM111A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM111A 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM111A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM111A

    Additional cDNA sequence: 

    AK025319.1 AK026447.1 AK092061.1 AK092953.1 AK130799.1 AK291453.1 BC013137.1 BC041693.1 
    BC054515.1 BC071759.1 

    10 DOTS entries:

    DT.92414823  DT.87024788  DT.91917153  DT.91696581  DT.97785830  DT.100786216  DT.97860920  DT.100786213 
    DT.100033157  DT.120736268 

    24/205 AceView cDNA sequences (see all 205):

    AA830008 BX091275 AW752815 BC013137 AA281071 BE221218 AA430754 AA236604 
    AA465228 CA407668 AX747824 AW058020 AJ713805 AA433947 AI301638 AI521118 
    AI290188 AW301207 AA088809 BV180165 AW752800 AX747338 BM979479 AA465584 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FAM111A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e
    SP1:              -           -     -     -                                       
    SP2:                    -     -     -     -                                       
    SP3:                          -     -                                             
    SP4:                          -                                                   
    SP5:                                                                              


    ECgene alternative splicing isoforms for FAM111A

    (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

    FAM111A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGACTGCTG

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

    About this image
    See FAM111A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM111A

    SOURCE GeneReport for Unigene cluster: Hs.150651
        SABiosciences Custom PCR Arrays for FAM111A
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM111A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM111A

    (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 FAM111A gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam111a1 , 5 family with sequence similarity 111, member A1, 5 72.54(n)1
    57.81(a)1
      19 (8.72 cM)5
    1073731  NM_026640.21  NP_080916.11 
     125457405 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    33(a)
    1 → many
    1(91216226-91227509)
    zebrafish
    (Danio rerio)
    Actinopterygii CR450726.16
    FP102192.16
    --
    26(a)
    25(a)
    many ↔ many
    many ↔ many
    5(7947916-7950134)
    5(8033742-8035457)


    ENSEMBL Gene Tree for FAM111A (if available)
    TreeFam Gene Tree for FAM111A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM111A gene
    FAM111B2  
    1 SIMAP similar gene for FAM111A using alignment to 3 protein entries:     F111A_HUMAN (see all proteins):
    FAM111B

    FAM111A 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

    10/295 NCBI SNPs in FAM111A are shown (see all 295    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs107922201,2
    C,F,A,H,--58908381(+) AATATA/GTCAAA 3 -- us2k115Minor allele frequency- G:0.29NS EA WA NA CSA 766
    rs1421202101,2
    --58908384(+) ATGTCA/GAAGTC 3 -- us2k10--------
    rs122718311,2
    C,F,H,--58908423(+) ACTTCG/ATAGAT 3 -- us2k118Minor allele frequency- A:0.20NS EA NA WA 1324
    rs1913893431,2
    --58908496(+) TAAACG/TCATGT 3 -- us2k10--------
    rs1448045211,2
    --58908538(+) ACCAAG/TGTATT 3 -- us2k10--------
    rs1820149281,2
    --58908545(+) TATTAA/GGCCTA 3 -- us2k10--------
    rs1482108891,2
    --58908550(+) AGCCTA/GGTACC 3 -- us2k10--------
    rs1412150811,2
    --58908605(+) CCTCCA/GATAGG 3 -- us2k10--------
    rs1156531731,2
    C,--58908669(+) CCCACA/GTATAA 3 -- us2k10--------
    rs1171496681,2
    F,--58908738(+) TCTAGC/TTCCAT 3 -- us2k11Minor allele frequency- T:0.02NA 120

    HapMap Linkage Disequilibrium report for FAM111A (58910221 - 58922512 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM111A
         1 CNV: 3853

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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

    FAM111A for disorders           About GeneDecksing

    2 diseases for FAM111A:    About MalaCards
    fanconi's anemia    anemia


    Export disorders for FAM111A 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 FAM111A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM111A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PubMed id 11572484)1, 2, 3 Nagase T....Ohara O. (2001)
    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. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (2009)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (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. 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)

    (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: 63901 HGNC: 24725 AceView: FLJ22794 Ensembl:ENSG00000166801 euGenes: HUgn63901
    ECgene: FAM111A H-InvDB: FAM111A

    (According to HUGE)
    About This Section
    HUGE: KIAA1895

    (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 FAM111A 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 FAM111A gene:
    Search GeneIP for patents involving FAM111A

    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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    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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