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IFT80
HPA
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  • IFT80
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

IFT80
Synonyms FAP167, KIAA1374, WDR56
Gene descriptioni

Full gene name according to HGNC.

Intraflagellar transport 80
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 3
Cytoband q25.33
Chromosome location (bp) 160256986 - 160399880
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

12
Ensembl ENSG00000068885 (version 109)
Entrez gene 57560
HGNC HGNC:29262
UniProt Q9P2H3 (UniProt - Evidence at protein level)
neXtProt NX_Q9P2H3
GeneCards IFT80
Antibodypedia IFT80 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.... show less
Gene summary (Entrez)i

Useful information about the gene from Entrez

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
IFT80-201
ENSP00000312778
ENST00000326448
Q9P2H3
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001649 [osteoblast differentiation]
GO:0001958 [endochondral ossification]
GO:0002062 [chondrocyte differentiation]
GO:0003417 [growth plate cartilage development]
GO:0003418 [growth plate cartilage chondrocyte differentiation]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0007224 [smoothened signaling pathway]
GO:0010839 [negative regulation of keratinocyte proliferation]
GO:0030992 [intraciliary transport particle B]
GO:0033687 [osteoblast proliferation]
GO:0035567 [non-canonical Wnt signaling pathway]
GO:0035630 [bone mineralization involved in bone maturation]
GO:0035720 [intraciliary anterograde transport]
GO:0036064 [ciliary basal body]
GO:0042995 [cell projection]
GO:0043616 [keratinocyte proliferation]
GO:0060173 [limb development]
GO:0060271 [cilium assembly]
GO:0060349 [bone morphogenesis]
GO:0061975 [articular cartilage development]
GO:0097500 [receptor localization to non-motile cilium]
GO:0097542 [ciliary tip]
GO:0097731 [9+0 non-motile cilium]
GO:1905515 [non-motile cilium assembly]
GO:2000051 [negative regulation of non-canonical Wnt signaling pathway]
Show all
777 aa
88 kDa
No 0
IFT80-204
ENSP00000418602
ENST00000465537
C9IZR2
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
122 aa
13.6 kDa
No 0
IFT80-208
ENSP00000417057
ENST00000468218
C9J6I5
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
42 aa
4.6 kDa
No 0
IFT80-212
ENSP00000419458
ENST00000475677
C9JUJ1
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
77 aa
8.6 kDa
No 0
IFT80-215
ENSP00000420758
ENST00000478370
C9J6G8
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
32 aa
3.5 kDa
No 0
IFT80-217
ENSP00000419468
ENST00000478536
C9JUI1
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
64 aa
7.5 kDa
No 0
IFT80-219
ENSP00000417552
ENST00000483325
H7C4K6
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
122 aa
13.8 kDa
No 0
IFT80-220
ENSP00000418196
ENST00000483465
Q9P2H3
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0030992 [intraciliary transport particle B]
GO:0035720 [intraciliary anterograde transport]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097542 [ciliary tip]
Show all
640 aa
72.6 kDa
No 0
IFT80-222
ENSP00000417861
ENST00000486856
C9J6G8
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
32 aa
3.5 kDa
No 0
IFT80-224
ENSP00000418455
ENST00000489004
C9J627
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
121 aa
13.7 kDa
No 0
IFT80-225
ENSP00000420646
ENST00000496589
Q9P2H3
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005856 [cytoskeleton]
GO:0005929 [cilium]
GO:0030992 [intraciliary transport particle B]
GO:0035720 [intraciliary anterograde transport]
GO:0042995 [cell projection]
GO:0060271 [cilium assembly]
GO:0097542 [ciliary tip]
Show all
640 aa
72.6 kDa
No 0
IFT80-227
ENSP00000420001
ENST00000498409
C9JSB1
[Direct mapping] Intraflagellar transport protein 80 homolog
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the musculoskeletal system
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
179 aa
20 kDa
No 0

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