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Aliases for IFT81 Gene

Aliases for IFT81 Gene

  • Intraflagellar Transport 81 2 3 5
  • Carnitine Deficiency-Associated Protein Expressed In Ventricle 1 3 4
  • CDV-1 3 4
  • CDV1 3 4
  • Carnitine Deficiency-Associated Gene Expressed In Ventricle 1 3
  • Carnitine Deficiency-Associated, Expressed In Ventricle 1 2
  • Intraflagellar Transport 81 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 81 Homolog 3
  • Intraflagellar Transport 81 Homolog 3
  • CDV-1R 3
  • CDV1R 3
  • DV1 3

External Ids for IFT81 Gene

Previous HGNC Symbols for IFT81 Gene

  • CDV1

Previous GeneCards Identifiers for IFT81 Gene

  • GC12P109026
  • GC12P110562
  • GC12P107578

Summaries for IFT81 Gene

Entrez Gene Summary for IFT81 Gene

  • The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]

GeneCards Summary for IFT81 Gene

IFT81 (Intraflagellar Transport 81) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. GO annotations related to this gene include tubulin binding.

UniProtKB/Swiss-Prot for IFT81 Gene

  • Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis.

Gene Wiki entry for IFT81 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT81 Gene

Genomics for IFT81 Gene

Regulatory Elements for IFT81 Gene

Enhancers for IFT81 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F110826 1 Ensembl ENCODE 6.7 +702.6 702634 0.8 PKNOX1 MLX WRNIP1 ARID4B SIN3A ZNF2 ZNF207 ZNF143 ZNF263 YY2 IFT81 PIR49180 ENSG00000257268
GH12F110368 0.7 Ensembl 4.1 +244.3 244266 0.4 ZNF362 RAD51 BHLHE40 IKZF1 NBN ANAPC7 IFT81 GC12P110369 RN7SL769P GC12M110365
GH12F110120 0.4 ENCODE 0.8 -3.2 -3249 0.9 RFX1 CEBPA CEBPB GLI4 ZNF384 C12orf76 FAM216A GLTP IFT81 LOC105369976
GH12F110123 0.6 ENCODE 0.8 +0.3 256 1.7 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF121 GLIS2 ELK1 SP3 SP5 ARPC3 C12orf76 FAM216A IFT81 GC12P110223
GH12F110117 0.2 ENCODE 0.4 -6.2 -6222 1.2 ELF3 HDAC1 CREB3L1 ZBTB40 RAD21 SCRT2 ZNF362 ZEB2 ELF1 KLF16 C12orf76 IFT81 LOC105369976
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IFT81 on UCSC Golden Path with GeneCards custom track

Promoters for IFT81 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000436951 465 1600 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF121 GLIS2 ELK1 SP3 SP5

Genomic Location for IFT81 Gene

Chromosome:
12
Start:
110,124,335 bp from pter
End:
110,218,797 bp from pter
Size:
94,463 bases
Orientation:
Plus strand

Genomic View for IFT81 Gene

Genes around IFT81 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT81 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT81 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT81 Gene

Proteins for IFT81 Gene

  • Protein details for IFT81 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYA0-IFT81_HUMAN
    Recommended name:
    Intraflagellar transport protein 81 homolog
    Protein Accession:
    Q8WYA0
    Secondary Accessions:
    • Q2YDY1
    • Q8NB51
    • Q9BSV2
    • Q9UNY8

    Protein attributes for IFT81 Gene

    Size:
    676 amino acids
    Molecular mass:
    79746 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT74; the interaction is direct: within the IFT complex B, IFT74 and IFT81 mediate the transport of tubulin within the cilium. Interacts with tubulin; the interaction is direct. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP. Interacts with IFT88.

    Alternative splice isoforms for IFT81 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT81 Gene

Post-translational modifications for IFT81 Gene

  • Ubiquitination at Lys 340 and Lys 453
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IFT81 Gene

Domains & Families for IFT81 Gene

Gene Families for IFT81 Gene

Protein Domains for IFT81 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT81 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WYA0

UniProtKB/Swiss-Prot:

IFT81_HUMAN :
  • The CH (calponin-homology)-like region shows high similarity to a CH (calponin-homology) domain and mediated binding to the globular domain of tubulin.
  • Belongs to the IFT81 family.
Domain:
  • The CH (calponin-homology)-like region shows high similarity to a CH (calponin-homology) domain and mediated binding to the globular domain of tubulin.
Family:
  • Belongs to the IFT81 family.
genes like me logo Genes that share domains with IFT81: view

Function for IFT81 Gene

Molecular function for IFT81 Gene

UniProtKB/Swiss-Prot Function:
Component of the intraflagellar transport (IFT) complex B: together with IFT74, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds tubulin via its CH (calponin-homology)-like region. Required for ciliogenesis.

Gene Ontology (GO) - Molecular Function for IFT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015631 tubulin binding IEA,IDA 23990561
genes like me logo Genes that share ontologies with IFT81: view

Phenotypes for IFT81 Gene

genes like me logo Genes that share phenotypes with IFT81: view

Animal Models for IFT81 Gene

MGI Knock Outs for IFT81:

Animal Model Products

miRNA for IFT81 Gene

miRTarBase miRNAs that target IFT81

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IFT81 Gene

Localization for IFT81 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT81 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT81 Gene COMPARTMENTS Subcellular localization image for IFT81 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 3
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IFT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IBA --
GO:0005929 cilium IEA --
GO:0030992 intraciliary transport particle B IEA,ISS --
GO:0031514 motile cilium ISS --
GO:0036064 ciliary basal body IDA 23990561
genes like me logo Genes that share ontologies with IFT81: view

Pathways & Interactions for IFT81 Gene

genes like me logo Genes that share pathways with IFT81: view

Pathways by source for IFT81 Gene

Gene Ontology (GO) - Biological Process for IFT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis ISS --
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly IMP 23990561
GO:0042073 intraciliary transport IEA --
GO:0060271 cilium assembly IMP 23990561
genes like me logo Genes that share ontologies with IFT81: view

No data available for SIGNOR curated interactions for IFT81 Gene

Transcripts for IFT81 Gene

Unigene Clusters for IFT81 Gene

Intraflagellar transport 81 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT81 Gene

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:

Relevant External Links for IFT81 Gene

GeneLoc Exon Structure for
IFT81
ECgene alternative splicing isoforms for
IFT81

Expression for IFT81 Gene

mRNA expression in normal human tissues for IFT81 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFT81 Gene

This gene is overexpressed in Esophagus (11.7), Platelet (10.8), Pancreatic juice (9.0), Testis (8.3), Ovary (7.6), and Tlymphocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT81 Gene



NURSA nuclear receptor signaling pathways regulating expression of IFT81 Gene:

IFT81

SOURCE GeneReport for Unigene cluster for IFT81 Gene:

Hs.528382

mRNA Expression by UniProt/SwissProt for IFT81 Gene:

Q8WYA0-IFT81_HUMAN
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.
genes like me logo Genes that share expression patterns with IFT81: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for IFT81 Gene

Orthologs for IFT81 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT81 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT81 34 35
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia IFT81 34 35
  • 92.95 (n)
cow
(Bos Taurus)
Mammalia IFT81 34 35
  • 92.75 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT81 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift81 34 16 35
  • 87.92 (n)
rat
(Rattus norvegicus)
Mammalia Ift81 34
  • 86.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFT81 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT81 34 35
  • 75.69 (n)
lizard
(Anolis carolinensis)
Reptilia IFT81 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift81 34
  • 73.99 (n)
Str.16775 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15290 34
zebrafish
(Danio rerio)
Actinopterygii ift81 34 35
  • 66.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002293 34
  • 41.18 (n)
worm
(Caenorhabditis elegans)
Secernentea ift-81 34 35
  • 47.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4 34
Species where no ortholog for IFT81 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFT81 Gene

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

Paralogs for IFT81 Gene

(3) SIMAP similar genes for IFT81 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with IFT81: view

No data available for Paralogs for IFT81 Gene

Variants for IFT81 Gene

Sequence variations from dbSNP and Humsavar for IFT81 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs864309657 Uncertain significance 110,163,066(+) ATGAG(A/G)TAAGC splice-donor-variant
rs864309658 Uncertain significance 110,218,210(+) GGAGG(-/ACCGG)CTAAT nc-transcript-variant, downstream-variant-500B, reference, frameshift-variant
rs10161471 -- 110,138,146(+) GTAAT(C/T)TATGA intron-variant
rs10161474 -- 110,138,209(+) TCTTT(C/T)TGGGA intron-variant
rs10431371 -- 110,139,823(+) taaat(A/T)aaata intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT81 Gene

Variant ID Type Subtype PubMed ID
esv1005096 CNV insertion 20482838
esv3425694 CNV duplication 20981092
esv3447497 CNV insertion 20981092
esv3630728 CNV loss 21293372
nsv1046646 CNV loss 25217958
nsv1144648 CNV deletion 24896259
nsv820204 CNV loss 19587683
nsv976027 CNV duplication 23825009

Variation tolerance for IFT81 Gene

Residual Variation Intolerance Score: 21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT81 Gene

Human Gene Mutation Database (HGMD)
IFT81
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT81

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT81 Gene

Disorders for IFT81 Gene

Relevant External Links for IFT81

Genetic Association Database (GAD)
IFT81
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT81

No disorders were found for IFT81 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IFT81 Gene

Publications for IFT81 Gene

  1. Genomic organization and mapping of mouse CDV (carnitine deficiency- associated gene expressed in ventricle)-1 and its related CDV-1R gene. (PMID: 11130971) Higashi M. … Saheki T. (Mamm. Genome 2000) 2 3 4 22 64
  2. Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. (PMID: 23990561) Bhogaraju S. … Lorentzen E. (Science 2013) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. 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. (PMID: 12549821) Peng J. … Zhao S. (Mol. Biol. Rep. 2002) 3 4 64

Products for IFT81 Gene

Sources for IFT81 Gene

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