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] See more...

Aliases for IFT81 Gene

Aliases for IFT81 Gene

  • Intraflagellar Transport 81 2 3 5
  • Carnitine Deficiency-Associated Protein Expressed In Ventricle 1 3 4
  • Intraflagellar Transport Protein 81 Homolog 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
  • CDV-1R 3
  • SRTD19 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. Diseases associated with IFT81 include Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly and Short Rib-Polydactyly Syndrome. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include tubulin binding.

UniProtKB/Swiss-Prot Summary 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 (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822).

Gene Wiki entry for IFT81 Gene

Additional gene information for IFT81 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFT81 Gene

Genomics for IFT81 Gene

GeneHancer (GH) Regulatory Elements for IFT81 Gene

Promoters and enhancers for IFT81 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT81 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IFT81 gene promoter:
  • Elk-1
  • Evi-1
  • FAC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • GATA-6
  • LCR-F1
  • MRF-2
  • ZID

Genomic Locations for IFT81 Gene

Genomic Locations for IFT81 Gene
chr12:110,124,335-110,218,795
(GRCh38/hg38)
Size:
94,461 bases
Orientation:
Plus strand
chr12:110,562,140-110,656,602
(GRCh37/hg19)
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 (PubMed:23990561). Interacts with IFT74; the interaction is direct: within the IFT complex B, IFT74 and IFT81 mediate the transport of tubulin within the cilium (PubMed:15955805, PubMed:23990561). Interacts with tubulin; the interaction is direct (PubMed:23990561). Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (By similarity). Interacts with IFT88 (PubMed:23990561). Interacts (via the IFT74/IFT81 heterodimer) with RABL2B (PubMed:28625565, PubMed:28428259).

    Alternative splice isoforms for IFT81 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT81 Gene

Post-translational modifications for IFT81 Gene

  • Ubiquitination at Lys340 and Lys453
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IFT81 Gene

Domains & Families for IFT81 Gene

Gene Families for IFT81 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IFT81 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFT81 Gene

GenScript: Design optimal peptide antigens:
  • Carnitine deficiency-associated protein expressed in ventricle 1 (IFT81_HUMAN)
  • IFT81 protein (Q05DP9_HUMAN)

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 (PubMed:23990561). Required for ciliogenesis (PubMed:27666822, PubMed:23990561). Required for proper regulation of SHH signaling (PubMed:27666822).

Phenotypes From GWAS Catalog for IFT81 Gene

Gene Ontology (GO) - Molecular Function for IFT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28428259
GO:0015631 tubulin binding IDA,IEA 23990561
genes like me logo Genes that share ontologies with IFT81: view
genes like me logo Genes that share phenotypes with IFT81: view

Human Phenotype Ontology for IFT81 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT81 Gene

MGI Knock Outs for IFT81:
  • Ift81 Ift81<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for IFT81 Gene

miRTarBase miRNAs that target IFT81

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT81

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFT81 gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT81 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IBA 21873635
GO:0005929 cilium TAS,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:0008589 regulation of smoothened signaling pathway IMP 27666822
GO:0030030 cell projection organization IEA --
GO:0035735 intraciliary transport involved in cilium assembly IMP,TAS --
GO:0042073 intraciliary transport IBA,IEA 21873635
genes like me logo Genes that share ontologies with IFT81: view

No data available for SIGNOR curated interactions for IFT81 Gene

Drugs & Compounds for IFT81 Gene

No Compound Related Data Available

Transcripts for IFT81 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT81

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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.

Evidence on tissue expression from TISSUES for IFT81 Gene

  • Blood(4.2)
genes like me logo Genes that share expression patterns with IFT81: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFT81 33 32
  • 92.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFT81 33 32
  • 92.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFT81 33
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ift81 17 33 32
  • 87.92 (n)
rat
(Rattus norvegicus)
Mammalia Ift81 32
  • 86.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFT81 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT81 33 32
  • 75.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT81 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift81 32
  • 73.99 (n)
Str.16775 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.15290 32
zebrafish
(Danio rerio)
Actinopterygii ift81 33 32
  • 66.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002293 32
  • 41.18 (n)
worm
(Caenorhabditis elegans)
Secernentea ift-81 33 32
  • 47.35 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 46 (a)
OneToOne
Cin.4 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for IFT81: view image

Paralogs for IFT81 Gene

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

  • IFT81_HUMAN
  • F8W1J4_HUMAN
  • H0YHE2_HUMAN
  • H0YIR4_HUMAN
  • Q05DP9_HUMAN
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 Variation AA Info Type
rs143130309 likely-pathogenic, Short stature 110,163,027(+) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1555266475 uncertain-significance, likely-pathogenic, SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY, Short Rib Polydactyly Syndrome 110,180,533(+) CTTCTT/CTT coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, inframe_deletion, non_coding_transcript_variant
rs200335504 pathogenic, likely-pathogenic, SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, Jeune thoracic dystrophy, SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 110,192,683(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, stop_gained
rs576969206 likely-pathogenic, SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 110,143,385(+) T/C/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs751222088 pathogenic, likely-pathogenic, SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY, Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895] 110,127,467(+) G/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_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)

Additional Variant Information for IFT81 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IFT81 Gene

MalaCards: The human disease database

(9) MalaCards diseases for IFT81 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IFT81 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IFT81_HUMAN
  • Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) [MIM:617895]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:27666822}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IFT81

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

No data available for 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 (Mammalian genome : official journal of the International Mammalian Genome Society 2000) 2 3 4 23 56
  2. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. (PMID: 28625565) Kanie T … Jackson PK (Developmental cell 2017) 3 4 56
  3. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. (PMID: 28428259) Nishijima Y … Nakayama K (Molecular biology of the cell 2017) 3 4 56
  4. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. (PMID: 27666822) Duran I … Krakow D (Scientific reports 2016) 3 4 56
  5. Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. (PMID: 23990561) Bhogaraju S … Lorentzen E (Science (New York, N.Y.) 2013) 3 4 56

Products for IFT81 Gene

Sources for IFT81 Gene