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IFLTD1 Gene

protein-coding   GIFtS: 46
GCID: GC12M025564

Intermediate Filament Tail Domain Containing 1

  See IFLTD1-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
Intermediate Filament Tail Domain Containing 11 2
PAS1C12
Intermediate Filament Tail Domain-Containing Protein 12

External Ids:    HGNC: 266831   Entrez Gene: 1604922   Ensembl: ENSG000001529367   UniProtKB: Q8N9Z93   

Export aliases for IFLTD1 gene to outside databases

Previous GC identifers: GC12M025521 GC12M025629 GC12M025400


(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 IFLTD1 Gene:
IFLTD1 (intermediate filament tail domain containing 1) is a protein-coding gene. Diseases associated with IFLTD1 include lung adenoma. GO annotations related to this gene include structural molecule activity.


(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_000012.11  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFLTD1 gene promoter:
         Nkx3-1 v2   Nkx3-1   Nkx3-1 v3   Nkx3-1 v1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFLTD1 promoter sequence
   Search Chromatin IP Primers for IFLTD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFLTD1


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

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

IFLTD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFLTD1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M025564:  view genomic region     (about GC identifiers)

Start:
25,562,241 bp from pter      End:
25,801,513 bp from pter
Size:
239,273 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: ILFT1_HUMAN, Q8N9Z9 (See protein sequence)
Recommended Name: Intermediate filament tail domain-containing protein 1  
Size: 388 amino acids; 43408 Da
Secondary accessions: B4DL27 B4DY70 Q8IY38
Alternative splicing: 5 isoforms:  Q8N9Z9-1   Q8N9Z9-2   Q8N9Z9-3   Q8N9Z9-4   Q8N9Z9-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IFLTD1: NX_Q8N9Z9

Explore proteomics data for IFLTD1 at MOPED


See IFLTD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts): 
NP_001139199.1  NP_001139200.1  NP_001139201.1  NP_001243195.1  NP_689803.2  

ENSEMBL proteins: 
 ENSP00000438645   ENSP00000282881   ENSP00000443132   ENSP00000407353   ENSP00000407043  
 ENSP00000393150   ENSP00000438160   ENSP00000443596   ENSP00000442871   ENSP00000445242  
 ENSP00000443387  

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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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2 InterPro protein domains:
 IPR001664 IF
 IPR001322 Lamin_tail_dom

Graphical View of Domain Structure for InterPro Entry Q8N9Z9

ProtoNet protein and cluster: Q8N9Z9

UniProtKB/Swiss-Prot: ILFT1_HUMAN, Q8N9Z9
Similarity: Belongs to the intermediate filament family


Find genes that share domains with IFLTD1           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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005198structural molecule activity IEA--
     
Find genes that share ontologies with IFLTD1           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for IFLTD1:
 Low eccentricity cells  Synthetic lethal with c-Myc af 

Animal Models:
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hsa-miR-2113 hsa-miR-758
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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
cytoskeleton3
nucleus3
cytosol1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus ----
GO:0005635nuclear envelope IEA--
GO:0005737cytoplasm IEA--
GO:0005882intermediate filament IEA--

Find genes that share ontologies with IFLTD1           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 IFLTD1
Interactions:

    Search GeneGlobe Interaction Network for IFLTD1

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008283cell proliferation IEA--

Find genes that share ontologies with IFLTD1           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 Tocris compounds for IFLTD1 (ILFT1)



(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 IFLTD1 gene (5 alternative transcripts): 
NM_001145727.2  NM_001145728.2  NM_001145729.1  NM_001256266.1  NM_152590.3  

Unigene Cluster for IFLTD1:

Intermediate filament tail domain containing 1
Hs.44647  [show with all ESTs]
Unigene Representative Sequence: NM_001145727
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000543629 ENST00000282881(uc010sji.1 uc001rgs.2) ENST00000539744(uc001rgt.1)
ENST00000458174 ENST00000445693(uc010sjj.2) ENST00000413632(uc009zjc.2)
ENST00000539523 ENST00000545543 ENST00000538178 ENST00000540106 ENST00000542224

miRNA
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2 qRT-PCR Assays for microRNAs that regulate IFLTD1:
hsa-miR-2113 hsa-miR-758
SwitchGear 3'UTR luciferase reporter plasmidIFLTD1 3' UTR sequence
Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat IFLTD1

Additional mRNA sequence: 

AK093323.1 AK296816.1 AK302292.1 AK310411.1 BC037957.1 

5 DOTS entries:

DT.100018263  DT.97800122  DT.121138290  DT.97822251  DT.121138318 

9 AceView cDNA sequences:

BC037957 BP359528 NM_152590 AI632491 BM563573 AX748055 AK093323 AA904847 
CD696835 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for IFLTD1    About this scheme

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1:              -                                                               
SP2:                          -                                                   


ECgene alternative splicing isoforms for IFLTD1

(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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IFLTD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGAGGGTGAA
IFLTD1 Expression
About this image


IFLTD1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 NULL (Uncategorized)    fully expand to see all 2 entries
         Definitive endoderm-like cells
 
 Testis (Reproductive System)
IFLTD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

IFLTD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.44647
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFLTD1

(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 chordates.

Orthologs for IFLTD1 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ifltd11 , 5 intermediate filament tail domain containing 11, 5 66.67(n)1
55.61(a)1
  6 (77.37 cM)5
740711  NM_028742.21  NP_083018.11 
 1453651345 
lizard
(Anolis carolinensis)
Reptilia IFLTD16
intermediate filament tail domain containing 1
38(a)
1 ↔ 1
GL343349.1(724506-963399)


ENSEMBL Gene Tree for IFLTD1 (if available)
TreeFam Gene Tree for IFLTD1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 IFLTD1 (see all 3767)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1487221681,2
--25628670(+) ACATTA/GTAAAA 3 -- ds50010--------
rs1483361951,2
C--25628680(+) AACTT-/AAAAAA 3 -- ds50010--------
rs1919590961,2
--25628764(+) TTTCTC/G/TTAAAC 3 -- ds50010--------
rs1829826931,2
--25628824(+) ACTTAC/TAACAA 3 -- ds50010--------
rs1866551871,2
--25628857(+) AAAATC/TGTGTT 3 -- ds50010--------
rs1918512021,2
--25628958(+) GGATCC/TGGATC 3 -- ds50010--------
rs1424371741,2
--25629009(+) TGTGGC/TACAGT 3 -- ds50010--------
rs1141287281,2
--25629042(+) GTCAAC/TGTAAA 3 -- ut310--------
rs1177715951,2
F--25629178(+) TTTTCT/CGCAGG 3 -- ut311Minor allele frequency- C:0.01EA 120
rs765193001,2
C--25629291(+) TGTGAT/GGTCTT 3 -- ut312Minor allele frequency- G:0.10CSA WA 120

HapMap Linkage Disequilibrium report for IFLTD1 (25562241 - 25801513 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for IFLTD1 (see all 17):    About this table    
Variant IDTypeSubtypePubMed ID
esv2665786CNV Deletion23128226
esv1242262CNV Deletion17803354
esv2488733CNV Deletion19546169
esv273616CNV Insertion20981092
esv268731CNV Insertion20981092
esv270487CNV Insertion20981092
esv268649CNV Insertion20981092
nsv509460CNV Insertion20534489
nsv519712CNV Loss19592680
nsv520540CNV Loss19592680

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(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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1 disease for IFLTD1:    
About MalaCards
lung adenoma

1 disease from the University of Copenhagen DISEASES database for IFLTD1:
Lung adenoma

Find genes that share disorders with IFLTD1           About GenesLikeMe

Genetic Association Database (GAD): IFLTD1
Human Genome Epidemiology (HuGE) Navigator: IFLTD1 (1 document)

Export disorders for IFLTD1 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 IFLTD1 gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with IFLTD1)
    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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. 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)
  4. Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. (PubMed id 17903306)4 Newton-Cheh C....Larson M.G. (BMC Med. Genet. 2007)
  5. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
  6. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)
  7. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
  8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  9. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
  10. Pas1c1 is a candidate for the mouse pulmonary adenoma susceptibility 1 locus. (PubMed id 15688036)1 Wang M....You M. (Oncogene 2005)

(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: 160492 HGNC: 26683 AceView: FLJ36004 Ensembl:ENSG00000152936 euGenes: HUgn160492
ECgene: IFLTD1 H-InvDB: IFLTD1

(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 IFLTD1 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 IFLTD1 gene:
Search GeneIP for patents involving IFLTD1

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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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFLTD1
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 Search Addgene for plasmids for IFLTD1
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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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