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FRMD1 Gene

protein-coding   GIFtS: 49
GCID: GC06M168456

FERM Domain Containing 1

  Search for FRMD1
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 Domain Containing 11 2
bA164L23.12
FERM Domain-Containing Protein 12

External Ids:    HGNC: 212401   Entrez Gene: 799812   Ensembl: ENSG000001533037   UniProtKB: Q8N8783   

Export aliases for FRMD1 gene to outside databases

Previous GC identifers: GC06M168138 GC06M168213 GC06M168275 GC06M165885


(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 FRMD1 Gene:
FRMD1 (FERM domain containing 1) is a protein-coding gene. An important paralog of this gene is FRMPD2.


(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_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FRMD1 gene promoter:
         STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRMD1 promoter sequence
   Search Chromatin IP Primers for FRMD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FRMD1


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

Entrez Gene cytogenetic band: 6q27   Ensembl cytogenetic band:  6q27   HGNC cytogenetic band: 6q27

FRMD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRMD1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M168456:  view genomic region     (about GC identifiers)

Start:
168,456,425 bp from pter      End:
168,482,237 bp from pter
Size:
25,813 bases      Orientation:
minus 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: FRMD1_HUMAN, Q8N878 (See protein sequence)
Recommended Name: FERM domain-containing protein 1  
Size: 549 amino acids; 62523 Da
Sequence caution: Sequence=CAB61397.2; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=CAI12329.1;
Type=Erroneous gene model prediction;
Secondary accessions: B2RNV8 B3KUM6 Q5SZU7 Q9UFB0
Alternative splicing: 2 isoforms:  Q8N878-1   Q8N878-2   

Explore the universe of human proteins at neXtProt for FRMD1: NX_Q8N878

Explore proteomics data for FRMD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FRMD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116313.1  NP_079195.3  

    ENSEMBL proteins: 
     ENSP00000283309   ENSP00000414115   ENSP00000427668   ENSP00000423552   ENSP00000424439  
     ENSP00000440078  

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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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    5 InterPro protein domains:
     IPR019748 FERM_central
     IPR014352 FERM/acyl-CoA-bd_prot_3-hlx
     IPR019749 Band_41_domain
     IPR018979 FERM_N
     IPR000299 FERM_domain

    Graphical View of Domain Structure for InterPro Entry Q8N878

    ProtoNet protein and cluster: Q8N878

    UniProtKB/Swiss-Prot: FRMD1_HUMAN, Q8N878
    Similarity: Contains 1 FERM domain


    Find genes that share domains with FRMD1           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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    Phenotypes:
         1 GenomeRNAi human phenotype for FRMD1:
     Increased cell number in S 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FRMD1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FRMD1

    miRNA
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    miRTarBase miRNAs that target FRMD1:
    hsa-mir-335-5p (MIRT019083)

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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
    cytoskeleton2
    cytosol2
    nucleus2
    extracellular1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--

    Find genes that share ontologies with FRMD1           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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    SuperPaths for FRMD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with FRMD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for FRMD1):
        Hippo signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FRMD1
    Interactions:

        Search GeneGlobe Interaction Network for FRMD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for FRMD1 (ENSP000002833094) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DIXDC1ENSP000003943524STRING: ENSP00000394352
    DVL1ENSP000003681694STRING: ENSP00000368169
    DVL2ENSP000000053404STRING: ENSP00000005340
    DVL3ENSP000003160544STRING: ENSP00000316054
    CCND1ENSP000002275074STRING: ENSP00000227507
    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 FRMD1



    (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 FRMD1 gene (2 alternative transcripts): 
    NM_001122841.2  NM_024919.4  

    Unigene Cluster for FRMD1:

    FERM domain containing 1
    Hs.266746  [show with all ESTs]
    Unigene Representative Sequence: AK074110
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283309(uc003qwo.4) ENST00000432403(uc003qwm.4) ENST00000358587
    ENST00000440994(uc003qwn.4) ENST00000468647(uc011egs.2 uc011egt.2)
    ENST00000509157 ENST00000336070 ENST00000506415 ENST00000511714 ENST00000537786

    miRNA
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat FRMD1

    Additional mRNA sequence: 

    AK026268.1 AK074110.1 AK097179.1 AK097579.1 AK125963.1 AK303194.1 AK303407.1 AK316478.1 
    AL133077.1 BC137144.1 

    5 DOTS entries:

    DT.100017701  DT.70101526  DT.92045550  DT.101978337  DT.100748689 

    16 AceView cDNA sequences:

    AK125963 AK097579 AL133077 BQ893169 AW771525 BQ027997 BQ879914 AK074110 
    AK026268 AW241593 AK097179 BX282106 BF434538 NM_024919 AI766100 BG960897 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for FRMD1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:        -           -     -           -                                                                 -                                       
    SP2:                    -     -           -                 -           -     -                             -     -                       -         
    SP3:                                      -                 -           -     -                             -     -                       -         
    SP4:                                                        -           -     -                                                                     
    SP5:                                                        -           -     -                                                                     


    ECgene alternative splicing isoforms for FRMD1

    (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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    FRMD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTTGAGCC
    FRMD1 Expression
    About this image

    FRMD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FRMD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.266746
        Custom PCR Arrays for FRMD1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRMD1

    (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 FRMD1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm50925 predicted gene 5092   --   17 21091207 
    chicken
    (Gallus gallus)
    Aves FRMD16
    FERM domain containing 1
    49(a)
    1 ↔ 1
    3(41319933-41347556)
    lizard
    (Anolis carolinensis)
    Reptilia FRMD16
    FERM domain containing 1
    46(a)
    1 ↔ 1
    1(224803293-224864157)
    zebrafish
    (Danio rerio)
    Actinopterygii BM776456.12   -- 74.56(n)    BM776456.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ex6
    expanded
    9(a)
    1 → many
    2L(431227-448701)
    worm
    (Caenorhabditis elegans)
    Secernentea frm-76
    Protein FRM-7 (frm-7) mRNA, complete cds
    11(a)
    1 → many
    V(12302484-12306972) WBGene00001493


    ENSEMBL Gene Tree for FRMD1 (if available)
    TreeFam Gene Tree for FRMD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FRMD1 gene
    FRMPD22  FRMD62  PTPN132  
    2 SIMAP similar genes for FRMD1 using alignment to 4 protein entries:     FRMD1_HUMAN (see all proteins):
    FLJ00181    FRMD6

    Find genes that share paralogs with FRMD1           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 FRMD1 (see all 832)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862786241,2
    --165907900(+) TATCCC/TGAAGC 1 -- us2k10--------
    rs715734421,2
    C,F--168455986(+) GTGCAT/CGTATG 2 -- ds50012Minor allele frequency- C:0.03NA 122
    rs1419754551,2
    C--168456002(+) GTGCA-/TGTGTGT 2 -- ds50010--------
    rs69149961,2
    C,F,A,H--168456018(+) GCATGC/TGTGTG 2 -- ds50015Minor allele frequency- T:0.19NA WA EA 362
    rs1412997241,2
    C--168456044(+) GTGTGC/TGTGTG 2 -- ds50010--------
    rs1469857571,2
    --168456122(+) CTTCAC/TGGTGG 2 -- ds50010--------
    rs1874046811,2
    --168456135(+) ACCACC/TTGCTG 2 -- ds50010--------
    rs1128055011,2
    C,F--168456152(+) CCCAAC/AACTGG 2 -- ds50012Minor allele frequency- A:0.02CSA WA 120
    rs1907836511,2
    --168456154(+) CAACAC/GTGGTG 2 -- ds50010--------
    rs1114069631,2
    C,F--168456163(+) TGTGTA/GCCTTC 2 -- ds50012Minor allele frequency- G:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for FRMD1 (168456425 - 168482237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FRMD1 (see all 47):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2733280CNV Deletion23290073
    esv2733276CNV Deletion23290073
    esv2733278CNV Deletion23290073
    esv2733274CNV Deletion23290073
    esv2733289CNV Deletion23290073
    esv2733275CNV Deletion23290073
    esv2733287CNV Deletion23290073
    esv2258411CNV Deletion18987734
    esv2733286CNV Deletion23290073
    esv2733282CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FRMD1
    DNA2.0 Custom Variant and Variant Library Synthesis for FRMD1

    (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 FRMD1           About GenesLikeMe

    Genetic Association Database (GAD): FRMD1

    Export disorders for FRMD1 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 FRMD1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with FRMD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    3. Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. (PubMed id 22610502)1 Kennedy R.B....Poland G.A. (Hum. Genet. 2012)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. 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)
    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. (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: 79981 HGNC: 21240 AceView: FRMD1 Ensembl:ENSG00000153303 euGenes: HUgn79981
    ECgene: FRMD1 Kegg: 79981 H-InvDB: FRMD1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for FRMD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for FRMD1 gene:
    Search GeneIP for patents involving FRMD1

    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
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