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FAT1 Gene

protein-coding   GIFtS: 55
GCID: GC04M187508

FAT Atypical Cadherin 1

(Previous names: FAT tumor suppressor (Drosophila) homolog, FAT tumor suppressor...)
(Previous symbol: FAT)
  See FAT1-related disease
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
FAT Atypical Cadherin 11 2     FAT Tumor Suppressor Homolog 1 (Drosophila)1
FAT1 2 3 5     CDHR82
Cadherin-Related Family Member 81 2     ME52
Cadherin Family Member 72 3     Cadherin ME52
Cadherin-Related Tumor Suppressor Homolog2 3     FAT Tumor Suppressor 12
Protein Fat Homolog2 3     FAT Tumor Suppressor Homolog 12
CDHF72 3     hFat12
FAT Tumor Suppressor (Drosophila) Homolog1     Protocadherin Fat 12

External Ids:    HGNC: 35951   Entrez Gene: 21952   Ensembl: ENSG000000838577   OMIM: 6009765   UniProtKB: Q145173   

Export aliases for FAT1 gene to outside databases

Previous GC identifers: GC04M187746 GC04M183256


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FAT1 Gene:
This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling
cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a
group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to
containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats
and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product
probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in
developmental processes and cell communication. Transcript variants derived from alternative splicing and/or
alternative promoter usage exist, but they have not been fully described. (provided by RefSeq, Jul 2008)

GeneCards Summary for FAT1 Gene:
FAT1 (FAT atypical cadherin 1) is a protein-coding gene. Diseases associated with FAT1 include dentin caries. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: FAT1_HUMAN, Q14517
Function: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell
contact (By similarity)

Gene Wiki entry for FAT1 (FAT) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FAT1 gene promoter:
         Nkx3-1 v2   Nkx3-1   PPAR-gamma1   Nkx3-1 v3   Nkx3-1 v1   PPAR-gamma2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): FAT1 promoter sequence
   Search Chromatin IP Primers for FAT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FAT1


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35.2

FAT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAT1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M187508:  view genomic region     (about GC identifiers)

Start:
187,508,937 bp from pter      End:
187,647,876 bp from pter
Size:
138,940 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: FAT1_HUMAN, Q14517 (See protein sequence)
Recommended Name: Protocadherin Fat 1 precursor  
Size: 4588 amino acids; 506273 Da
Subunit: Interacts (via the C-terminus 4300-4400 AA) with ATN1. Interacts with RERE. Interacts (via EVH1 domains)
with ENAH (By similarity). Interacts (via cytoplasmic domain) with CTNNB1 (By similarity)

Explore the universe of human proteins at neXtProt for FAT1: NX_Q14517

Explore proteomics data for FAT1 at MOPED

Post-translational modifications: 

  • Undergoes proteolytic cleavage. The extracellular domain is cleaved off and the cytoplasmic domain (about 400 AA)
    shuttles to the nucleus1
  • Ubiquitination2 at Lys637, Lys686, Lys1568, Lys2600, Lys3736, Lys3841, Lys3992, Lys4219
  • Glycosylation2 at Asn40, Asn333, Asn660, Asn740, Asn791, Asn998, Ser1188, Asn1426, Asn1551, Asn1748,
                                 Asn1864, Asn1902, Asn1940, Asn1991, Asn2325, Asn2464, Asn3324, Asn3422, Asn3444, Asn3613 (see all 23)
  • Modification sites at PhosphoSitePlus

  • See FAT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005236.2  
    ENSEMBL proteins: 
     ENSP00000406229   ENSP00000424157   ENSP00000423801   ENSP00000421003   ENSP00000420869  
     ENSP00000423736  

    FAT1 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    Search antibodies-online for peptides for FAT1

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    antibodies-online antibodies for FAT1 (4 products) 

    FAT1 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for FAT1 
    antibodies-online kits for FAT1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CDHR: Cadherins / Cadherin-related

    Selected InterPro protein domains (see all 11):
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR015919 Cadherin-like
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry Q14517

    ProtoNet protein and cluster: Q14517

    5 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001791 Laminin G
    IPB001881 EGF-like calcium-binding
    IPB002126 Cadherin
    IPB003129 Thrombospondin


    UniProtKB/Swiss-Prot: FAT1_HUMAN, Q14517
    Domain: A PTB-like motif (DNXYH sequence) is required for the targeting to the leading edge. This motif represents
    a minimal protein-protein interaction core motif that is not regulated by tyrosine phosphorylation (By
    similarity)
    Similarity: Contains 33 cadherin domains
    Similarity: Contains 5 EGF-like domains
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with FAT1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: FAT1_HUMAN, Q14517
    Function: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell
    contact (By similarity)

         Genatlas biochemistry entry for FAT1:
    Drosophila tumor suppressor fat homolog,expressed in many epithelial and some endothelial cells,putative adhesion
    molecule,cadherin superfamilily

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16979624
         
    Find genes that share ontologies with FAT1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FAT1:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

         15 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Fat1):
     behavior/neurological  cardiovascular system  craniofacial  growth/size/body  hearing/vestibular/ear 
     immune system  integument  mortality/aging  muscle  nervous system 
     no phenotypic analysis  pigmentation  renal/urinary system  skeleton  vision/eye 

    Find genes that share phenotypes with FAT1           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for FAT1

    miRNA
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    miRTarBase miRNAs that target FAT1:
    hsa-mir-181a-5p (MIRT047315), hsa-mir-222-3p (MIRT046601), hsa-mir-125b-5p (MIRT046026)

    Block miRNA regulation of human, mouse, rat FAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAT1 (see all 22):
    hsa-miR-892b hsa-miR-218-1* hsa-miR-223 hsa-miR-548a-3p hsa-miR-548g hsa-miR-641 hsa-miR-548x hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidFAT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: FAT1 (NM_005245)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FAT1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat FAT1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAT1


    (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
    FAT1_HUMAN, Q14517: Cell membrane; Single-pass type I membrane protein. Nucleus. Cytoplasm, perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    extracellular2
    cytosol1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15922730
    GO:0005886plasma membrane IDA15922730
    GO:0005887integral component of plasma membrane TAS8586420
    GO:0005911cell-cell junction IDA15148305
    GO:0016020membrane ----

    Find genes that share ontologies with FAT1           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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        Pathway & Disease-focused RT2 Profiler PCR Array including FAT1: 
              Tumor Metastasis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FAT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FAT1 (Q145171, 2, 3 ENSP000004062294) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENAHQ8N8S71, 2, 3, ENSP000003558094EBI-1171918,EBI-2834410 MINT-3370478 MINT-3370511 I2D: score=2 STRING: ENSP00000355809
    HOMER1Q86YM72, 3, ENSP000003343824MINT-3370381 I2D: score=2 STRING: ENSP00000334382
    HOMER3Q9NSC51, 2, 3, ENSP000003481504EBI-1171918,EBI-748420 MINT-3370401 MINT-3370454 MINT-3370427 MINT-3370268 I2D: score=2 STRING: ENSP00000348150
    HDAC6Q9UBN73, ENSP000003340614I2D: score=1 STRING: ENSP00000334061
    MPIP349493I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007015actin filament organization ISS--
    GO:0007155cell adhesion TAS8586420
    GO:0007156homophilic cell adhesion IEA--
    GO:0007163establishment or maintenance of cell polarity ISS--
    GO:0007267cell-cell signaling TAS8586420

    Find genes that share ontologies with FAT1           About GenesLikeMe



    (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 FAT1



    (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 FAT1 gene: 
    NM_005245.3  

    Unigene Cluster for FAT1:

    FAT tumor suppressor homolog 1 (Drosophila)
    Hs.481371  [show with all ESTs]
    Unigene Representative Sequence: NM_005245
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441802(uc010isn.3 uc003izf.3 uc010iso.1) ENST00000500085
    ENST00000512772 ENST00000507105 ENST00000509537 ENST00000509927 ENST00000507662
    ENST00000512347 ENST00000503253 ENST00000508035 ENST00000509647
    miRNA
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    Block miRNA regulation of human, mouse, rat FAT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate FAT1 (see all 22):
    hsa-miR-892b hsa-miR-218-1* hsa-miR-223 hsa-miR-548a-3p hsa-miR-548g hsa-miR-641 hsa-miR-548x hsa-miR-548am
    SwitchGear 3'UTR luciferase reporter plasmidFAT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat FAT1
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: FAT1 (NM_005245)
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for FAT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FAT1
      QuantiTect SYBR Green Assays in human, mouse, rat FAT1
      QuantiFast Probe-based Assays in human, mouse, rat FAT1

    Additional mRNA sequence: 

    AK307938.1 BC012432.1 D88798.1 EF139845.1 X87241.1 

    16 DOTS entries:

    DT.317047  DT.97801132  DT.75107345  DT.100813734  DT.92444050  DT.102824623  DT.97786274  DT.100813735 
    DT.92444046  DT.100018351  DT.100740143  DT.40266667  DT.92444051  DT.121236013  DT.91745710  DT.92444045 

    Selected AceView cDNA sequences (see all 293):

    BQ925687 BF515335 BF337432 CA489183 AI587582 BX103284 AI217202 AI288546 
    BE078257 BC012432 AA133594 AI270518 BQ718467 AL707125 BM698320 AA743948 
    AI587563 BP428660 BM818370 BM724675 BM723967 AA639577 AA635705 BX950987 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FAT1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for FAT1

    (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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    FAT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACACAGTTTT
    FAT1 Expression
    About this image


    FAT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Testis (Reproductive System)
             Pre-Sertoli Cells Testis Cord
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
     
     Colon (Gastrointestinal Tract)
    FAT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FAT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.481371

    UniProtKB/Swiss-Prot: FAT1_HUMAN, Q14517
    Tissue specificity: Expressed in many epithelial and some endothelial and smooth muscle cells

        Pathway & Disease-focused RT2 Profiler PCR Array including FAT1: 
              Tumor Metastasis in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAT1

    (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 FAT1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fat11 , 5 FAT tumor suppressor homolog 1 (Drosophila)1, 5 82.53(n)1
    88.19(a)1
      8 (24.81 cM)5
    141071  NM_001081286.21  NP_001074755.21 
     449502085 
    chicken
    (Gallus gallus)
    Aves FAT11 FAT tumor suppressor homolog 1 (Drosophila) 76.35(n)
    81.43(a)
      395168  XM_004935992.1  XP_004936049.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAT16
    FAT atypical cadherin 1
    78(a)
    1 ↔ 1
    5(111295551-111450492)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.90282 Xenopus laevis transcribed sequence with moderate similarity more 73.97(n)    BX848070.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fat11 FAT tumor suppressor homolog 1 (Drosophila) 60.39(n)
    55.73(a)
      565591  XM_688860.3  XP_693952.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta kug1 kugelei 48.01(n)
    38.99(a)
      40191  NM_140914.3  NP_649171.3 
    worm
    (Caenorhabditis elegans)
    Secernentea cdh-41 cdh-4 44.39(n)
    31.06(a)
      175590  NM_001267988.1  NP_001254917.1 


    ENSEMBL Gene Tree for FAT1 (if available)
    TreeFam Gene Tree for FAT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FAT1 gene
    DCHS12  DCHS22  CELSR32  CELSR12  FAT22  PCDH152  FAT42  FAT32  
    CELSR22  
    12 SIMAP similar genes for FAT1 using alignment to 7 protein entries:     FAT1_HUMAN (see all proteins):
    ME5    F9    FAT2    FAT3    ME2    ME3
    ME6    NOTCH2NL    CDH23    DKFZp434P2350    FLJ00233    ME4

    Find genes that share paralogs with FAT1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for FAT1
    PGOHUM00000247443


    (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 FAT1 (see all 3750)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339966881,2
    C--187326185(+) GAACA-/GACTCTT 1 -- int10--------
    rs1909445371,2
    --187508586(+) TTTGAG/TATAAA 1 -- ds50010--------
    rs1821039571,2
    --187508726(+) CTATAA/GTTTTG 1 -- ds50010--------
    rs761767931,2
    C--187508731(+) GTTTTG/TAGCCG 1 -- ds50010--------
    rs1851756871,2
    --187508734(+) TTGAGC/TCGTAT 1 -- ds50010--------
    rs1153636561,2
    C,F--187508735(+) TGAGCC/TGTATC 1 -- ds50012Minor allele frequency- T:0.03WA NA 238
    rs1140151391,2
    F--187508736(+) GAGCCG/ATATCA 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1913588351,2
    --187508743(+) ATCAAA/GTAGCT 1 -- ds50010--------
    rs1392824571,2
    --187508770(+) TGGCTA/GGCTCC 1 -- ds50010--------
    rs1831685961,2
    --187508775(+) GGCTCC/TGCTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for FAT1 (187508937 - 187647876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FAT1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728952CNV Deletion23290073
    esv2664653CNV Deletion23128226
    esv2728950CNV Deletion23290073
    esv2728954CNV Deletion23290073
    esv2728959CNV Deletion23290073
    esv2670303CNV Deletion23128226
    esv2728956CNV Deletion23290073
    esv2664697CNV Deletion23128226
    esv2728957CNV Deletion23290073
    esv2659002CNV Deletion23128226

    Human Gene Mutation Database (HGMD): FAT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FAT1
    DNA2.0 Custom Variant and Variant Library Synthesis for FAT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600976    OMIM disorders: --

    1 disease for FAT1:    
    About MalaCards
    dentin caries

    1 disease from the University of Copenhagen DISEASES database for FAT1:
    Dentin caries

    Find genes that share disorders with FAT1           About GenesLikeMe

    2 Novoseek inferred disease relationships for FAT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 3.12 3 16581652 (2), 16865240 (1)
    tumors 0 1 15922730 (1)

    Genetic Association Database (GAD): FAT1
    Human Genome Epidemiology (HuGE) Navigator: FAT1 (3 documents)

    Export disorders for FAT1 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 FAT1 gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with FAT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule. (PubMed id 8586420)1, 2, 3, 9 Dunne J.... Owen M.J. (Genomics 1995)
    2. Processing of the human protocadherin Fat1 and translocation of its cytoplasmic domain to the nucleus. (PubMed id 15922730)1, 2, 9 Magg T.... Hofer H.W. (Exp. Cell Res. 2005)
    3. A genome-wide association study on obesity and obesity-related traits. (PubMed id 21552555)1, 4 Wang K....Price R.A. (PLoS ONE 2011)
    4. No influence of FAT polymorphisms in response to aripiprazole. (PubMed id 19893579)1, 4 Pae C.U....Serretti A. (J. Hum. Genet. 2010)
    5. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (J Affect Disord 2009)
    6. Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells. (PubMed id 19131340)1, 2 Hou R. and Sibinga N.E. (J. Biol. Chem. 2009)
    7. Differentially spliced isoforms of FAT1 are asymmetrically distributed within migrating cells. (PubMed id 17500054)1, 9 Braun G.S....Moeller M.J. (J. Biol. Chem. 2007)
    8. The intracellular domain of the human protocadherin hFat1 interacts with Homer signalling scaffolding proteins. (PubMed id 16979624)1, 9 Schreiner D....Hofer H.W. (FEBS Lett. 2006)
    9. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. (PubMed id 23785297)1 Caruso N....Helmbacher F. (PLoS Genet. 2013)
    10. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 2195 HGNC: 3595 AceView: FAT Ensembl:ENSG00000083857 euGenes: HUgn2195
    ECgene: FAT1 H-InvDB: FAT1

    (According to HUGE)
    About This Section

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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 FAT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FAT1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for FAT1 gene:
    Search GeneIP for patents involving FAT1

    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, eBioscience, antibodies-online, 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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