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FAM71D Gene

protein-coding   GIFtS: 40
GCID: GC14P067656

Family With Sequence Similarity 71, Member D

(Previous name: chromosome 14 open reading frame 54)
(Previous symbol: C14orf54)
  Search for FAM71D
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Family With Sequence Similarity 71, Member D1 2
C14orf541 2 3
Chromosome 14 Open Reading Frame 541
Protein FAM71D2

External Ids:    HGNC: 201011   Entrez Gene: 1611422   Ensembl: ENSG000001727177   UniProtKB: Q8N9W83   

Export aliases for FAM71D gene to outside databases

Previous GC identifers: GC14P066726 GC14P047825


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for FAM71D Gene:
FAM71D (family with sequence similarity 71, member D) is a protein-coding gene. An important paralog of this gene is FAM71E2.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAM71D gene promoter:
         Oct-B1   oct-B2   HTF   Evi-1   FAC1   POU2F1   POU2F1a   POU2F1b   POU2F1c   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM71D promoter sequence
   Search Chromatin IP Primers for FAM71D

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAM71D


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

Entrez Gene cytogenetic band: 14q23.3   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23.3

FAM71D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71D gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P067656:  view genomic region     (about GC identifiers)

Start:
67,656,110 bp from pter      End:
67,695,267 bp from pter
Size:
39,158 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FA71D_HUMAN, Q8N9W8 (See protein sequence)
Recommended Name: Protein FAM71D  
Size: 422 amino acids; 47076 Da
Secondary accessions: Q86VN4
Alternative splicing: 2 isoforms:  Q8N9W8-1   Q8N9W8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM71D: NX_Q8N9W8

Explore proteomics data for FAM71D at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FAM71D Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_775797.2  
    ENSEMBL proteins: 
     ENSP00000436280   ENSP00000431905   ENSP00000433183   ENSP00000454526   ENSP00000432195  
     ENSP00000451865   ENSP00000451960   ENSP00000450695  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR022168 DUF3699

    Graphical View of Domain Structure for InterPro Entry Q8N9W8

    ProtoNet protein and cluster: Q8N9W8

    UniProtKB/Swiss-Prot: FA71D_HUMAN, Q8N9W8
    Similarity: Belongs to the FAM71 family


    Find genes that share domains with FAM71D           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM71D
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    hsa-miR-511 hsa-miR-1244 hsa-miR-4307 hsa-miR-544 hsa-miR-200c* hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidFAM71D 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM71D

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with FAM71D           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FAM71D
    Interactions:

        Search GeneGlobe Interaction Network for FAM71D

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FAM71D (FA71D)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FAM71D gene: 
    NM_173526.3  

    Unigene Cluster for FAM71D:

    Family with sequence similarity 71, member D
    Hs.412818  [show with all ESTs]
    Unigene Representative Sequence: NM_173526
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524532 ENST00000311864(uc001xja.2 uc010aqn.2) ENST00000530728
    ENST00000524914(uc010tsv.2 uc001xiz.3) ENST00000534174 ENST00000556046
    ENST00000531566 ENST00000556117 ENST00000557671 ENST00000554500
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate FAM71D:
    hsa-miR-511 hsa-miR-1244 hsa-miR-4307 hsa-miR-544 hsa-miR-200c* hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidFAM71D 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAM71D
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    GenScript: all cDNA clones in your preferred vector: FAM71D (NM_173526)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FAM71D
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat FAM71D

    Additional mRNA sequence: 

    AK093449.1 AK302154.1 BC037380.1 BC050401.1 

    7 DOTS entries:

    DT.75199969  DT.100039443  DT.100743925  DT.100674146  DT.416381  DT.100680917  DT.120773233 

    20 AceView cDNA sequences:

    BI832052 AX748134 BC050401 AI191975 NM_173526 BC037380 AA718918 AK093449 
    AA398093 BU101741 BI831380 AI699453 BI826576 AA399527 CD244027 AI956014 
    AI925089 BM908047 BF881294 AA831479 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM71D    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                      
    SP2:                                                      


    ECgene alternative splicing isoforms for FAM71D

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FAM71D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FAM71D Expression
    About this image

    FAM71D Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAM71D Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.412818
        Custom PCR Arrays for FAM71D
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71D

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FAM71D gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam71d1 , 5 family with sequence similarity 71, member D1, 5 74.77(n)1
    61.64(a)1
      12 (35.51 cM)5
    708971  NM_029069.11  NP_083345.11 
     786915355 
    chicken
    (Gallus gallus)
    Aves FAM71D6
    family with sequence similarity 71, member D
    32(a)
    1 ↔ 1
    5(28311422-28318711)
    lizard
    (Anolis carolinensis)
    Reptilia FAM71D6
    family with sequence similarity 71, member D
    48(a)
    1 ↔ 1
    GL343272.1(1347742-1367456)


    ENSEMBL Gene Tree for FAM71D (if available)
    TreeFam Gene Tree for FAM71D (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAM71D gene
    FAM71E22  FAM71E12  FAM71B2  FAM71F22  FAM71C2  FAM71A2  ENSG000002677062  FAM71F12  
    1 SIMAP similar gene for FAM71D using alignment to 7 protein entries:     FA71D_HUMAN (see all proteins):
    FAM71C

    Find genes that share paralogs with FAM71D           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FAM71D (see all 805)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727173401,2
    C--67654112(+) CTCCCT/CAAGCC 1 -- us2k14Minor allele frequency- C:0.05CSA WA NA EA 360
    rs1492932401,2
    C--67654323(+) AGCAGA/GTGAAG 1 -- us2k10--------
    rs1842704851,2
    --67654331(+) AAGTCC/GCAGCA 1 -- us2k10--------
    rs1445097721,2
    --67654332(+) AGTCCC/TAGCAC 1 -- us2k10--------
    rs1887368651,2
    --67654375(+) AGGCTC/TTTCTT 1 -- us2k10--------
    rs1484278651,2
    C--67654382(+) TCTTCC/TGTGAA 1 -- us2k10--------
    rs1811733561,2
    --67654469(+) TGCCTC/GTGTGC 1 -- us2k10--------
    rs65737551,2
    C,F,A,H--67654476(+) GTGCCT/GTTGCT 1 -- us2k119Minor allele frequency- G:0.43NS EA NA WA CSA 2343
    rs1425306411,2
    C--67654604(+) CCTCTA/GTCTTA 1 -- us2k10--------
    rs1861814981,2
    --67654677(+) TTGAGC/TGCAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM71D (67656110 - 67695267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FAM71D:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1953n71CNV Loss21882294
    esv2751285CNV Gain17911159
    nsv832821CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing FAM71D
    DNA2.0 Custom Variant and Variant Library Synthesis for FAM71D

    (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.)
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      --

    (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)
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    PubMed articles for FAM71D gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FAM71D)
        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. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 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. (Genome Res. 2006)
    5. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 161142 HGNC: 20101 AceView: C14orf54 Ensembl:ENSG00000172717 euGenes: HUgn161142
    ECgene: FAM71D H-InvDB: FAM71D

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for FAM71D Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAM71D gene:
    Search GeneIP for patents involving FAM71D

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Custom PCR Arrays for FAM71D Search Chromatin IP Primers for FAM71D
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FAM71D
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     Search Addgene for plasmids for FAM71D
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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