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

FAM181A Gene

protein-coding   GIFtS: 38
GCID: GC14P094385

Family With Sequence Similarity 181, Member A

(Previous name: chromosome 14 open reading frame 152)
(Previous symbol: C14orf152)
  Search for FAM181A
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
Family With Sequence Similarity 181, Member A1 2
C14orf1521 2 3
Chromosome 14 Open Reading Frame 1521
Protein FAM181A2

External Ids:    HGNC: 204911   Entrez Gene: 900502   Ensembl: ENSG000001400677   UniProtKB: Q8N9Y43   

Export aliases for FAM181A gene to outside databases

Previous GC identifers: GC14P093456 GC14P074566


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

GeneCards Summary for FAM181A Gene: 
FAM181A (family with sequence similarity 181, member A) 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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM181A gene promoter:
         HOXA9B   HOXA9   STAT5B   RFX1   RREB-1   MyoD   GATA-1   Arnt   HOXA5   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM181A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM181A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM181A


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

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.12

FAM181A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM181A gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P094385:  view genomic region     (about GC identifiers)

Start:
94,385,240 bp from pter      End:
94,395,954 bp from pter
Size:
10,715 bases      Orientation:
plus 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: F181A_HUMAN, Q8N9Y4 (See protein sequence)
Recommended Name: Protein FAM181A  
Size: 354 amino acids; 38724 Da
Secondary accessions: B2RD39 Q96GY1
Alternative splicing: 2 isoforms:  Q8N9Y4-1   Q8N9Y4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM181A: NX_Q8N9Y4

Explore proteomics data for FAM181A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N9Y4

  • FAM181A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM181A Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001194000.1  NP_001194001.1  NP_001194002.1  NP_001194003.1  NP_612353.3  

    ENSEMBL proteins: 
     ENSP00000451802   ENSP00000267594   ENSP00000451678   ENSP00000452393   ENSP00000451445  

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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: Q8N9Y4

    UniProtKB/Swiss-Prot: F181A_HUMAN, Q8N9Y4
    Similarity: Belongs to the FAM181 family


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM181A:
     Decreased melanin production 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM181A 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM181A


    (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 FAM181A

    (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 FAM181A (F181A)

    Search CenterWatch for drugs/clinical trials and news about FAM181A / F181A

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 FAM181A gene (5 alternative transcripts): 
    NM_001207071.1  NM_001207072.1  NM_001207073.1  NM_001207074.1  NM_138344.4  

    Unigene Cluster for FAM181A:

    Family with sequence similarity 181, member A
    Hs.525550  [show with all ESTs]
    Unigene Representative Sequence: NM_138344
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000557719 ENST00000267594(uc001ybz.2 uc021say.1 uc021saz.1 uc010aus.2 uc001yca.2)
    ENST00000556222 ENST00000554404 ENST00000557000
    miRNA
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    hsa-miR-4261 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmidFAM181A 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAM181A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM181A
    Sirion Biotech Customized lentivirus for stable overexpression of FAM181A 
                         Customized lentivirus expression plasmids for stable overexpression of FAM181A 
    Primer
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    OriGene qPCR primer pairs and template standards for FAM181A
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM181A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM181A

    Additional mRNA sequence: 

    AK093387.1 AK315393.1 AY255795.1 BC009073.1 

    4 DOTS entries:

    DT.402859  DT.100019121  DT.91994014  DT.95187268 

    21 AceView cDNA sequences:

    AI657033 BC009073 BX109051 BF526096 BM808894 AA610019 BI520320 BM553144 
    AY255795 BI464012 AI143921 AK093387 AW235240 AX748092 NM_138344 AI654408 
    BE962786 BF196894 AW015933 AA609153 BE612876 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FAM181A    About this scheme

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


    ECgene alternative splicing isoforms for FAM181A

    (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

    FAM181A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGTGGAGG
    FAM181A Expression
    About this image


    See FAM181A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM181A

    SOURCE GeneReport for Unigene cluster: Hs.525550
        SABiosciences Custom PCR Arrays for FAM181A
    Primer
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    OriGene qPCR primer pairs and template standards for FAM181A
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM181A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM181A

    (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 FAM181A gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam181a1 , 5 family with sequence similarity 181, member A1, 5 80.25(n)1
    76.71(a)1
      12 (52.90 cM)5
    1005041561  NM_001195726.11  NP_001182655.11 
     1033149595 
    chicken
    (Gallus gallus)
    Aves FAM181A1 family with sequence similarity 181, member A 67.02(n)
    61.7(a)
      423427  XM_003641370.1  XP_003641418.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM181A6
    Uncharacterized protein
    44(a)
    1 ↔ 1
    1(10404726-10405754)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.136482 Transcribed sequences 75.01(n)    BX735865.1 


    ENSEMBL Gene Tree for FAM181A (if available)
    TreeFam Gene Tree for FAM181A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/74 SNPs in FAM181A are shown (see all 74)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0228344
    ----see VAR_0228342 A T mis40--------
    rs2015387671,2
    C--94394722(+) CACCCT/CGCCGC 10 /R /C mis11Minor allele frequency- C:0.00EU 1069
    rs1858467701,2
    C--94394733(+) CGCTCC/TGTGGA 10 S syn10--------
    rs1399727871,2
    C,F--94394792(+) TTCCCG/AGCTCC 10 /Q /R mis12Minor allele frequency- A:0.00NA EU 5203
    rs1422993901,2
    C,F--94394800(+) TCCCGC/TGGGGC 10 R W mis12Minor allele frequency- T:0.00NA EU 4973
    rs1397731351,2
    C,F--94394818(+) GCAGAG/TCTGCT 10 A S mis12Minor allele frequency- T:0.00NA EU 4505
    rs2010339141,2
    --94394845(+) GGGGGA/TCTGAG 10 T S mis10--------
    rs1999989121,2
    --94394898(+) AGCCCC/TGGCGG 10 P syn10--------
    rs2021701451,2
    C--94394902(+) CCGGCA/GGGGGT 10 R G mis10--------
    rs1454754171,2
    C--94394911(+) GTGGGG/AGCTGC 10 /S /G mis11Minor allele frequency- A:0.00NA 3202

    HapMap Linkage Disequilibrium report for FAM181A (94385240 - 94395954 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FAM181A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv521206CNV Loss19592680
    nsv902206CNV Loss21882294
    nsv832861CNV 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 FAM181A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM181A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. 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)
    5. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    6. 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)
    7. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 90050 HGNC: 20491 AceView: C14orf152 Ensembl:ENSG00000140067 euGenes: HUgn90050
    ECgene: FAM181A H-InvDB: FAM181A

    (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 FAM181A 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 FAM181A gene:
    Search GeneIP for patents involving FAM181A

    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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    (GIFtS: 73)
    transforming growth factor, beta 1
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