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

FITM1 Gene

protein-coding   GIFtS: 41
GCID: GC14P024600

Fat Storage-Inducing Transmembrane Protein 1

  Search for FITM1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Fat Storage-Inducing Transmembrane Protein 11 2
FIT12 3 5
Fat-Inducing Transcript 11 2
Fat-Inducing Protein 12 3

External Ids:    HGNC: 337141   Entrez Gene: 1612472   Ensembl: ENSG000001399147   OMIM: 6120285   UniProtKB: A5D6W63   

Export aliases for FITM1 gene to outside databases

Previous GC identifers: GC14P023672 GC14P004715


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

Entrez Gene summary for FITM1 Gene:
FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008
(PubMed 18160536)).(supplied by OMIM, May 2008)

GeneCards Summary for FITM1 Gene: 
FITM1 (fat storage-inducing transmembrane protein 1) is a protein-coding gene. GO annotations related to this gene include molecular_function. An important paralog of this gene is FITM2.

UniProtKB/Swiss-Prot: FITM1_HUMAN, A5D6W6
Function: Plays an important role in lipid droplet accumulation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FITM1 gene promoter:
         TBP   FOXF2   AML1a   SREBP-1c   TFIID   STAT5A   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFITM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FITM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FITM1


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

FITM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FITM1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P024600:  view genomic region     (about GC identifiers)

Start:
24,600,484 bp from pter      End:
24,602,058 bp from pter
Size:
1,575 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FITM1_HUMAN, A5D6W6 (See protein sequence)
Recommended Name: Fat storage-inducing transmembrane protein 1  
Size: 292 amino acids; 32207 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: Q8IUQ7
Alternative splicing: 2 isoforms:  A5D6W6-1   A5D6W6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FITM1: NX_A5D6W6

Explore proteomics data for FITM1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A5D6W6

  • FITM1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FITM1 Protein Expression
    REFSEQ proteins: NP_981947.1  
    ENSEMBL proteins: 
     ENSP00000267426   ENSP00000453741  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane ISS18160536
    GO:0030176integral to endoplasmic reticulum membrane IEA--

    FITM1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019388 FIT

    Graphical View of Domain Structure for InterPro Entry A5D6W6

    ProtoNet protein and cluster: A5D6W6

    UniProtKB/Swiss-Prot: FITM1_HUMAN, A5D6W6
    Similarity: Belongs to the FIT family


    FITM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FITM1_HUMAN, A5D6W6
    Function: Plays an important role in lipid droplet accumulation

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    FITM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FITM1:
     Low eccentricity cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FITM1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FITM1

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010890positive regulation of sequestering of triglyceride ISS18160536
    GO:0034389lipid particle organization ISS18160536

    FITM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FITM1

    Search CenterWatch for drugs/clinical trials and news about FITM1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FITM1 gene: 
    NM_203402.2  

    Unigene Cluster for FITM1:

    Fat storage-inducing transmembrane protein 1
    Hs.128060  [show with all ESTs]
    Unigene Representative Sequence: NM_203402
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000267426(uc001wmf.2) ENST00000559294
    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FITM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FITM1
    Sirion Biotech Customized lentivirus for stable overexpression of FITM1 
                         Customized lentivirus expression plasmids for stable overexpression of FITM1 
    Primer
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    Additional mRNA sequence: BC139911.1 

    3 DOTS entries:

    DT.100702388  DT.410293  DT.95157240 

    24/382 AceView cDNA sequences (see all 382):

    CF529658 BX344583 BU557195 BU784666 AI684379 AA332097 BX408322 BM695545 
    BU184715 BM846447 NM_203402 BQ894832 AF283773 CD671695 BM564301 CR614614 
    BE243557 BU188056 CR616798 BM727403 BX326501 R17634 BU167583 BG680240 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FITM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTCTTCCC
    FITM1 Expression
    About this image


    See FITM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FITM1

    SOURCE GeneReport for Unigene cluster: Hs.128060

    UniProtKB/Swiss-Prot: FITM1_HUMAN, A5D6W6
    Tissue specificity: Primarily expressed in heart and skeletal muscle

        SABiosciences Custom PCR Arrays for FITM1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FITM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FITM1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fitm11 , 5 fat storage-inducing transmembrane protein 11, 5 88.7(n)1
    96.23(a)1
      14 (28.19 cM)5
    686801  NM_026808.11  NP_081084.11 
     555756175 
    lizard
    (Anolis carolinensis)
    Reptilia FITM16
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL344031.1(38645-40436)
    zebrafish
    (Danio rerio)
    Actinopterygii fitm11 fat storage-inducing transmembrane protein 1 53.28(n)
    44.98(a)
      503747  NM_001013325.1  NP_001013343.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG106716
    --
    15(a)
    1 → many
    3L(5137182-5139163)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK265.96
    FIT family protein ZK265.9
    19(a)
    1 → many
    I(8253374-8254926)


    ENSEMBL Gene Tree for FITM1 (if available)
    TreeFam Gene Tree for FITM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FITM1 gene
    FITM22  
    1 SIMAP similar gene for FITM1 using alignment to 1 protein entry:     FITM1_HUMAN:
    FITM2

    FITM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/105 SNPs in FITM1 are shown (see all 105)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1862883381,2
    --24598824(+) GCAATA/GGTGCC 1 -- us2k10--------
    rs71531561,2
    C,F,A--24598846(+) ctgcaG/Atgtca 1 -- us2k1 tfbs310Minor allele frequency- A:0.46NA WA CSA EA 370
    rs101496621,2
    C,F--24598912(+) aggcaC/Tgtgcc 1 -- us2k1 tfbs34Minor allele frequency- T:0.25NA WA CSA 8
    rs71557231,2
    C,F,H--24598958(+) acggcG/Atctca 1 -- us2k111Minor allele frequency- A:0.03NS NA 1418
    rs1420151061,2
    --24599208(+) GTGAGA/TCACTG 1 -- us2k10--------
    rs1907538531,2
    --24599210(+) GAGACA/GCTGTC 1 -- us2k10--------
    rs65735721,2
    C,F,A,H--24599230(+) taaatA/Cataaa 1 -- us2k1 tfbs39Minor allele frequency- C:0.46NA WA CSA EA 368
    rs65735731,2
    C,F,A,H--24599257(+) atgagC/Tggaaa 1 -- us2k18Minor allele frequency- T:0.50NA WA CSA EA 368
    rs101416761,2
    C,F,H--24599625(+) ctgatT/Cgatta 1 -- us2k1 tfbs37Minor allele frequency- C:0.00NS NA 1020
    rs797110191,2
    F--24599703(+) TTCCTA/GAAGTC 1 -- us2k11Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for FITM1 (24600484 - 24602058 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for FITM1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv901498CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FITM1 for disorders           About MalaCards
    OMIM gene information: 612028    OMIM disorders: --


    FITM1 for disorders           About GeneDecksing


    Export disorders for FITM1 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)
    About This Section

    PubMed articles for FITM1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FITM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionarily conserved gene family important for fat storage. (PubMed id 18160536)1, 2, 3 Kadereit B....Silver D.L. (2008)
    2. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    3. 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. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 161247 HGNC: 33714 AceView: WDR23 Ensembl:ENSG00000139914 euGenes: HUgn161247
    ECgene: FITM1 H-InvDB: FITM1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FITM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FITM1 gene:
    Search GeneIP for patents involving FITM1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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