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

IFT81 Gene

protein-coding   GIFtS: 50
GCID: GC12P110562

Intraflagellar Transport 81 Homolog (Chlamydomonas)

(Previous names: carnitine deficiency-associated, expressed in ventricle...)
(Previous symbol: CDV1)
  See related diseases
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
Intraflagellar Transport 81 Homolog (Chlamydomonas)1 2     Carnitine Deficiency-Associated, Expressed In Ventricle 11
CDV11 2 3 5     CDV-1R2
Carnitine Deficiency-Associated Protein Expressed In Ventricle 12 3     Carnitine Deficiency-Associated Gene Expressed In Ventricle 12
CDV-12 3     Intraflagellar Transport Protein 81 Homolog2
CDV1R2 5     

External Ids:    HGNC: 143131   Entrez Gene: 289812   Ensembl: ENSG000001229707   OMIM: 6054895   UniProtKB: Q8WYA03   

Export aliases for IFT81 gene to outside databases

Previous GC identifers: GC12P109026 GC12P107578


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

GeneCards Summary for IFT81 Gene: 
IFT81 (intraflagellar transport 81 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT81 include murray valley encephalitis, and encephalitis.

UniProtKB/Swiss-Prot: IFT81_HUMAN, Q8WYA0
Function: Isoform CDV-1 may be involved in cardiac hypertrophy caused by carnitine deficiency (By similarity)
Function: Isoform CDV-1R appears to play a role in development of the testis and spermatogenesis (By similarity)

Gene Wiki entry for IFT81 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFT81 gene promoter:
         Elk-1   LCR-F1   Evi-1   FOXL1   FAC1   GATA-6   FOXJ2 (long isoform)   FOXJ2   ZID   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT81 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFT81

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT81


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

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.13

IFT81 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT81 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P110562:  view genomic region     (about GC identifiers)

Start:
110,562,140 bp from pter      End:
110,656,602 bp from pter
Size:
94,463 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: IFT81_HUMAN, Q8WYA0 (See protein sequence)
Recommended Name: Intraflagellar transport protein 81 homolog  
Size: 676 amino acids; 79746 Da
Secondary accessions: Q2YDY1 Q8NB51 Q9BSV2 Q9UNY8
Alternative splicing, Alternative initiation: 3 isoforms:  Q8WYA0-1   Q8WYA0-3   Q8WYA0-4   (Produced by alternative initiation at Met-570 of isoform CDV-1R)

Explore the universe of human proteins at neXtProt for IFT81: NX_Q8WYA0

Explore proteomics data for IFT81 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8WYA0

  • IFT81 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IFT81 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001137251.1  NP_054774.2  NP_113661.2  

    ENSEMBL proteins: 
     ENSP00000355372   ENSP00000449718   ENSP00000242591   ENSP00000446950   ENSP00000446895  
     ENSP00000449964  

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    Cloud-Clone Corp. Proteins for IFT81 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IEA--
    GO:0005929cilium ----
    GO:0030992intraflagellar transport particle B ISS--
    GO:0031514motile cilium ISS--

    IFT81 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
    HGNC Gene Families: 
    IFT: Intraflagellar transport homologs

    ProtoNet protein and cluster: Q8WYA0


    (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: IFT81_HUMAN, Q8WYA0
    Function: Isoform CDV-1 may be involved in cardiac hypertrophy caused by carnitine deficiency (By similarity)
    Function: Isoform CDV-1R appears to play a role in development of the testis and spermatogenesis (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for IFT81:

     Increased cell number in G1, s 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IFT81 
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    SwitchGear 3'UTR luciferase reporter plasmidIFT81 3' UTR sequence
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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 IFT81

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for IFT81 (Q8WYA03 ENSP000002425914) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ULK1O753853I2D: score=1 
    IFT27ENSP000003435934STRING: ENSP00000343593
    IFT52ENSP000003621214STRING: ENSP00000362121
    IFT74ENSP000003694024STRING: ENSP00000369402
    IFT88ENSP000003235804STRING: ENSP00000323580
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis ISS--
    GO:0030154cell differentiation IEA--

    IFT81 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 IFT81

    Search CenterWatch for drugs/clinical trials and news about IFT81

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 IFT81 gene (3 alternative transcripts): 
    NM_001143779.1  NM_014055.3  NM_031473.3  

    Unigene Cluster for IFT81:

    Intraflagellar transport 81 homolog (Chlamydomonas)
    Hs.528382  [show with all ESTs]
    Unigene Representative Sequence: NM_014055
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361948(uc001tqg.3) ENST00000552912(uc001tqi.3) ENST00000242591(uc001tqh.3)
    ENST00000546374 ENST00000550156(uc001tqj.3) ENST00000551273 ENST00000549009
    ENST00000551055 ENST00000550748
    miRNA
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    hsa-miR-577 hsa-miR-548e hsa-miR-3653 hsa-miR-548a-3p hsa-miR-33a* hsa-miR-548g hsa-miR-3658 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmidIFT81 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF078932.1 AF139540.1 AF250326.1 AF332010.1 AK000874.1 AK291043.1 BC004536.2 BC005396.1 
    BC029349.1 BC108257.1 

    8 DOTS entries:

    DT.102824274  DT.212217  DT.99945646  DT.91825974  DT.95269770  DT.95269771  DT.100021297  DT.100732993 

    24/103 AceView cDNA sequences (see all 103):

    AF139540 H99645 BG413436 BC005396 AK091549 BP351086 CD677199 AI539533 
    CD107237 CR608549 AK000874 AI277889 AW439786 AA017137 AU116935 CB241041 
    AA460521 AA460520 BF593938 AL705570 AA860474 AI435548 NM_014055 BQ440673 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IFT81    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b
    SP1:                                                                                -                                                                     
    SP2:        -                                                                       -                                               -     -               
    SP3:                                                                                -                                               -     -               
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for IFT81

    (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

    IFT81 expression in normal human tissues (normalized intensities)      IFT81 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTTTTCTGT
    IFT81 Expression
    About this image


    IFT81 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow

    See IFT81 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFT81

    SOURCE GeneReport for Unigene cluster: Hs.528382

    UniProtKB/Swiss-Prot: IFT81_HUMAN, Q8WYA0
    Tissue specificity: Highly expressed in testis, moderately in ovary, heart, liver, skeletal muscle, kidney and
    pancreas, low in prostate, brain, placenta and lung and not detected in spleen, thymus, small intestine and
    colon. Isoform CDV-1R is abundantly expressed in testis

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    (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 IFT81 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift811 , 5 intraflagellar transport 81 homolog (Chlamydomonas)5
    intraflagellar transport 811
    87.92(n)1
    92.9(a)1
      5 (62.44 cM)5
    125891  NM_009879.31  NP_034009.21 
     1225502045 
    chicken
    (Gallus gallus)
    Aves IFT811 intraflagellar transport 81 homolog (Chlamydomonas) 75.69(n)
    77.66(a)
      416839  NM_001252309.1  NP_001239238.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT816
    Uncharacterized protein
    76(a)
    1 ↔ 1
    LGb(2227290-2264948)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152902 Xenopus laevis transcribed sequence with moderate similarity more 72.06(n)    BJ043905.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ift811 intraflagellar transport 81 homolog 66.12(n)
    69.63(a)
      432390  NM_001002313.1  NP_001002313.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0022931 AGAP002293-PA 41.07(n)
    32.63(a)
      1269265  XM_307884.3  XP_307884.3 
    worm
    (Caenorhabditis elegans)
    Secernentea ift-811 Protein IFT-81 44.5(n)
    29.49(a)
      185183  NM_076499.6  NP_508900.5 


    ENSEMBL Gene Tree for IFT81 (if available)
    TreeFam Gene Tree for IFT81 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IFT81 gene
    3 SIMAP similar genes for IFT81 using alignment to 5 protein entries:     IFT81_HUMAN (see all proteins):
    CEP250    NUMA1    NUMA1 variant protein

    IFT81 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

    10/1554 SNPs in IFT81 are shown (see all 1554)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1850080031,2
    --110560158(+) TGTCAA/GCCCTA 3 -- us2k10--------
    rs1486111901,2
    --110560189(+) GCCACA/GTTTTA 3 -- us2k10--------
    rs771005091,2
    C,F--110560318(+) CCCTTC/TTACAA 3 -- us2k12Minor allele frequency- T:0.08WA EA 238
    rs1910847591,2
    --110560390(+) GCTTCC/TCCTAA 3 -- us2k10--------
    rs1125874081,2
    F--110560512(+) GTTGTA/GTTGCC 3 -- us2k12Minor allele frequency- G:0.33CSA 3
    rs1422379491,2
    --110560733(+) CTCTCA/GAAGTG 3 -- us2k10--------
    rs1512125511,2
    --110560752(+) ACAGGC/TGTGAG 3 -- us2k10--------
    rs1872254781,2
    --110560794(+) TTAAAC/TATCAC 3 -- us2k10--------
    rs1396878881,2
    --110560833(+) ATGGCC/TCCTTT 3 -- us2k10--------
    rs1451844271,2
    --110561120(+) TCCTAC/TGCTGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for IFT81 (110562140 - 110656602 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IFT81:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1005096CNV Insertion20482838
    nsv820204CNV Loss19587683

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IFT81
    DNA2.0 Custom Variant and Variant Library Synthesis for IFT81

    (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
    OMIM gene information: 605489    OMIM disorders: --

    3 diseases for IFT81:    About MalaCards
    murray valley encephalitis    encephalitis    prostatitis


    IFT81 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IFT81

    Export disorders for IFT81 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 IFT81 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with IFT81)
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    1. Genomic organization and mapping of mouse CDV (carnitine deficiency- associated gene expressed in ventricle)-1 and its related CDV-1R gene. (PubMed id 11130971)1, 2, 3, 9 Higashi M.... Saheki T. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Identification of human CDV-1R and mouse Cdv-1R, two novel proteins with putative signal peptides, especially highly expressed in testis and increased with the male sex maturation. (PubMed id 12549821)1, 2 Peng J.... Zhao S. (2002)
    5. Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. (PubMed id 23990561)1 Bhogaraju S....Lorentzen E. (2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Phosphoproteome of resting human platelets. (PubMed id 18088087)2 Zahedi R.P.... Sickmann A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 28981 HGNC: 14313 AceView: CDV-1 Ensembl:ENSG00000122970 euGenes: HUgn28981
    ECgene: IFT81 H-InvDB: IFT81

    (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 IFT81 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for IFT81 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IFT81 gene:
    Search GeneIP for patents involving IFT81

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



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