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FRMPD1 Gene

protein-coding   GIFtS: 49
GCID: GC09P037644

FERM And PDZ Domain Containing 1

  Search for FRMPD1
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
FERM And PDZ Domain Containing 11 2
FRMD22 3
FERM Domain-Containing Protein 22 3
FERM And PDZ Domain-Containing Protein 12
KIAA09673

External Ids:    HGNC: 291591   Entrez Gene: 228442   Ensembl: ENSG000000706017   UniProtKB: Q5SYB03   

Export aliases for FRMPD1 gene to outside databases

Previous GC identifers: GC09P037642 GC09P037643


(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 FRMPD1 Gene:
FRMPD1 (FERM and PDZ domain containing 1) is a protein-coding gene. An important paralog of this gene is FRMPD4.

UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0
Function: Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1




(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 at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the FRMPD1 gene promoter:
         GR   Pbx1a   Tal-1   LCR-F1   Tal-1beta   E47   SRY   Zic1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRMPD1 promoter sequence
   Search Chromatin IP Primers for FRMPD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRMPD1


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

Entrez Gene cytogenetic band: 9p13.2   Ensembl cytogenetic band:  9p13.2   HGNC cytogenetic band: 9p13.1

FRMPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMPD1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P037644:  view genomic region     (about GC identifiers)

Start:
37,650,997 bp from pter      End:
37,746,901 bp from pter
Size:
95,905 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: FRPD1_HUMAN, Q5SYB0 (See protein sequence)
Recommended Name: FERM and PDZ domain-containing protein 1  
Size: 1578 amino acids; 173437 Da
Subunit: Interacts with GPSM1
2 PDB 3D structures from and Proteopedia for FRMPD1:
2EDV (3D)        4G2V (3D)    
Secondary accessions: D3DRQ3 Q14C73 Q5HY96 Q9Y2H3

Explore the universe of human proteins at neXtProt for FRMPD1: NX_Q5SYB0

Explore proteomics data for FRMPD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FRMPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055722.2  
    ENSEMBL proteins: 
     ENSP00000366995   ENSP00000444411   ENSP00000439868   ENSP00000444804   ENSP00000437762  

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    Cloud-Clone Corp. Proteins for FRMPD1

     
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    Cloud-Clone Corp. ELISAs for FRMPD1
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    Search eBioscience for ELISAs for FRMPD1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR019748 FERM_central
     IPR001478 PDZ
     IPR019749 Band_41_domain
     IPR018979 FERM_N
     IPR000299 FERM_domain

    Graphical View of Domain Structure for InterPro Entry Q5SYB0

    ProtoNet protein and cluster: Q5SYB0

    1 Blocks protein domain: IPB000299 Band 4.1 domain

    UniProtKB/Swiss-Prot: FRPD1_HUMAN, Q5SYB0
    Similarity: Contains 1 FERM domain
    Similarity: Contains 1 PDZ (DHR) domain


    Find genes that share domains with FRMPD1           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FRPD1_HUMAN, Q5SYB0
    Function: Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with FRMPD1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for FRMPD1:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FRMPD1
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    6 qRT-PCR Assays for microRNAs that regulate FRMPD1:
    hsa-miR-30c hsa-miR-30a hsa-miR-1266 hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidFRMPD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FRMPD1

    Gene Editing
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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 UniProtKB/Swiss-Prot
    FRPD1_HUMAN, Q5SYB0: Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Found
    both in the cytoplasm and associated with the cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    plasma membrane5
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with FRMPD1           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 FRMPD1
    Interactions:

        Search GeneGlobe Interaction Network for FRMPD1

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

    Selected Interacting proteins for FRMPD1 (Q5SYB03 ENSP000003669954) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TLN1Q9Y4903I2D: score=1 
    RHOAENSP000004001754STRING: ENSP00000400175
    RHOCENSP000002857354STRING: ENSP00000285735
    HRASENSP000003098454STRING: ENSP00000309845
    KRASENSP000002560784STRING: ENSP00000256078
    About this table

    (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 FRMPD1 (FRPD1)



    (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 FRMPD1 gene: 
    NM_014907.2  

    Unigene Cluster for FRMPD1:

    FERM and PDZ domain containing 1
    Hs.163990  [show with all ESTs]
    Unigene Representative Sequence: BX648967
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377765(uc004aag.1) ENST00000539465(uc004aah.1) ENST00000359927
    ENST00000541302 ENST00000536622(uc011lqm.2 uc011lqn.2)
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate FRMPD1:
    hsa-miR-30c hsa-miR-30a hsa-miR-1266 hsa-miR-30b hsa-miR-30d hsa-miR-30e
    SwitchGear 3'UTR luciferase reporter plasmidFRMPD1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat FRMPD1
      QuantiFast Probe-based Assays in human, mouse, rat FRMPD1

    Additional mRNA sequence: 

    AB023184.1 AK302739.1 AK302854.1 BC114965.1 BX648967.1 

    4 DOTS entries:

    DT.105175  DT.97770109  DT.97786805  DT.100674219 

    Selected AceView cDNA sequences (see all 31):

    AB023184 BM721329 BM677068 NM_014907 BU737912 BM665597 BM679166 CD675426 
    BM700114 BQ068691 BM714301 BM722677 BQ071053 AA613216 BG740424 CD626298 
    BX648967 BQ069229 BX955619 AA453913 AA367739 BX105679 H88113 BM723360 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                -     -                                                                       -               
    SP2:                                                                                                                              
    SP3:                                                                                                                              


    ECgene alternative splicing isoforms for FRMPD1

    (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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    FRMPD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGATCAGAAT
    FRMPD1 Expression
    About this image

    FRMPD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRMPD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.163990
        Custom PCR Arrays for FRMPD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMPD1

    (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 animals.

    Orthologs for FRMPD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Frmpd11 , 5 FERM and PDZ domain containing 11, 5 81.3(n)1
    78.3(a)1
      4 (23.77 cM)5
    6660601  NM_001081172.21  NP_001074641.11 
     451848755 
    chicken
    (Gallus gallus)
    Aves FRMPD11 FERM and PDZ domain containing 1 63.54(n)
    57.72(a)
      100859250  XM_003643105.2  XP_003643153.2 
    lizard
    (Anolis carolinensis)
    Reptilia FRMPD16
    FERM and PDZ domain containing 1
    43(a)
    1 ↔ 1
    GL343201.1(3834351-3927970)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia frmpd11 FERM and PDZ domain containing 1 59.34(n)
    57.46(a)
      101732285  XM_004910895.1  XP_004910952.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU638740.46
    FRMPD1 (6 of 6)6
    (see all 6)
    FERM and PDZ domain containing 1
    (see all 6)
    65(a)
    48(a)
    (see all 6)
    many → 1
    many → 1
    (see all 6)
    14(4382291-4389202) ENSDARG00000087008
    14(4588851-4591210) ENSDARG00000091472
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427886
    --
    18(a)
    1 → many
    3R(10921679-10957646)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-86
    Protein FRM-8, isoform c (frm-8) mRNA, complete cd...
    23(a)
    1 → many
    III(3200800-3219150) WBGene00001494


    ENSEMBL Gene Tree for FRMPD1 (if available)
    TreeFam Gene Tree for FRMPD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FRMPD1 gene
    FRMPD42  FRMPD32  

    Find genes that share paralogs with FRMPD1           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 FRMPD1 (see all 2263)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354454
    A breast cancer sample4--see VAR_0354452 G D mis40--------
    rs786495631,2
    F--37649057(+) GAGGCT/AGACAC 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1415206061,2
    C--37649112(+) ATGGGC/G/TAACAT 1 -- us2k10--------
    rs625344431,2
    C--37649129(+) TCACCG/AGACAA 1 -- us2k15Minor allele frequency- A:0.13NA WA EA 408
    rs1851721871,2
    --37649219(+) TTAATA/CTTTAT 1 -- us2k10--------
    rs1908629751,2
    --37649254(+) ACTTTA/TTTTTG 1 -- us2k10--------
    rs109734541,2
    C,F--37649331(+) AAAAGC/TTTTCA 1 -- us2k14Minor allele frequency- T:0.05CSA WA NA 242
    rs1159400581,2
    F--37649364(+) ATCTTC/TCACCC 1 -- us2k11Minor allele frequency- T:0.20WA 118
    rs1126246881,2
    C,F--37649404(+) CTTTGC/TATACT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1137846401,2
    C,F--37649418(+) AAGACG/AGGTGA 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for FRMPD1 (37650997 - 37746901 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for FRMPD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1260484CNV Insertion17803354
    nsv819610CNV Loss19587683
    nsv893061CNV Loss21882294
    nsv469813CNV Loss16826518
    nsv831552CNV Gain17160897
    nsv893062CNV Gain21882294
    nsv893060CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FRMPD1
    DNA2.0 Custom Variant and Variant Library Synthesis for FRMPD1

    (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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    Find genes that share disorders with FRMPD1           About GenesLikeMe

    Genetic Association Database (GAD): FRMPD1
    Human Genome Epidemiology (HuGE) Navigator: FRMPD1 (1 document)

    Export disorders for FRMPD1 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)
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    PubMed articles for FRMPD1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with FRMPD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. (PubMed id 18566450)1, 2 An N.... Lanier S.M. (J. Biol. Chem. 2008)
    4. Structural and biochemical characterization of the interaction between LGN and Frmpd1. (PubMed id 23318951)1 Pan Z....Wen W. (J. Mol. Biol. 2013)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    6. Rat Mcs5a is a compound quantitative trait locus with orthologous human loci that associate with breast cancer risk. (PubMed id 17404222)1 Samuelson D.J....Gould M.N. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22844 HGNC: 29159 AceView: FRMPD1 Ensembl:ENSG00000070601 euGenes: HUgn22844
    ECgene: FRMPD1 H-InvDB: FRMPD1

    (According to HUGE)
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    HUGE: KIAA0967

    (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 FRMPD1 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 FRMPD1 gene:
    Search GeneIP for patents involving FRMPD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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