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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is ENSG00000259371.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   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 Chromatin IP Primers for FITM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: FITM1_HUMAN, A5D6W6 (See protein sequence)
Recommended Name: Fat storage-inducing transmembrane protein 1  
Size: 292 amino acids; 32207 Da
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


See FITM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_981947.1  
ENSEMBL proteins: 
 ENSP00000267426   ENSP00000453741  

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


Find genes that share domains with FITM1           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: FITM1_HUMAN, A5D6W6
Function: Plays an important role in lipid droplet accumulation

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

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
Find genes that share ontologies with FITM1           About GenesLikeMe


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

Animal Models:
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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
FITM1_HUMAN, A5D6W6: Endoplasmic reticulum membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3

Gene Ontology (GO): 2 cellular component terms:    About this table

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

Find genes that share ontologies with FITM1           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 FITM1
Interactions:

    Search GeneGlobe Interaction Network for FITM1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

3 Interacting proteins for FITM1 (ENSP000002674264) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CPOXENSP000002641934STRING: ENSP00000264193
AMELXENSP000003700884STRING: ENSP00000370088
AMELYENSP000002154794STRING: ENSP00000215479
About this table

Gene Ontology (GO): 2 biological process terms:    About this table

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

Find genes that share ontologies with FITM1           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 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,
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 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
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Additional mRNA sequence: BC139911.1 

3 DOTS entries:

DT.100702388  DT.410293  DT.95157240 

Selected AceView cDNA sequences (see all 382):

AW003607 CA440395 AI684379 BM695545 AF283773 AI346141 BM564301 CR591826 
AL599515 CR611586 BU184715 CR616798 BM716221 BQ689192 BX463696 BX326146 
BU557195 AV651393 CF529147 BU729478 BP345759 BG683237 CR591345 CD367821 

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™, 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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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

FITM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FITM1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.128060

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

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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)
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This gene was present in the common ancestor of animals.

Orthologs for FITM1 gene from Selected species (see all 12)    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
fat storage-inducing transmembrane protein 1
65(a)
1 ↔ 1
GL344031.1(38645-40436)
tropical clawed frog
(Xenopus tropicalis)
Amphibia fitm11 fat storage-inducing transmembrane protein 1 58.08(n)
58.08(a)
  100487007  XM_004910760.1  XP_004910817.1 
zebrafish
(Danio rerio)
Actinopterygii fitm11 fat storage-inducing transmembrane protein 1 53.33(n)
44.8(a)
  503747  NM_001013325.2  NP_001013343.1 
fruit fly
(Drosophila melanogaster)
Insecta CG106716
--
16(a)
1 → many
3L(5137182-5139163)
worm
(Caenorhabditis elegans)
Secernentea ZK265.96
Protein ZK265.9 (ZK265.9) mRNA, complete cds
21(a)
1 → many
I(8253374-8254926) WBGene00044094


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)
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Paralogs for FITM1 gene
ENSG000002593712  FITM22  
1 SIMAP similar gene for FITM1 using alignment to 1 protein entry:     FITM1_HUMAN:
FITM2

Find genes that share paralogs with FITM1           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 FITM1 (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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FITM1
DNA2.0 Custom Variant and Variant Library Synthesis for FITM1

(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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OMIM gene information: 612028    OMIM disorders: --


Find genes that share disorders with FITM1           About GenesLikeMe


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)
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PubMed articles for FITM1 gene integrated from 10 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. (Proc. Natl. Acad. Sci. U.S.A. 2008)
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  5. (PubMed id )2 

(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: 161247 HGNC: 33714 AceView: WDR23 Ensembl:ENSG00000139914 euGenes: HUgn161247
ECgene: FITM1 H-InvDB: FITM1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FITM1 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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