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Q96FT9

- IFT43_HUMAN

UniProt

Q96FT9 - IFT43_HUMAN

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Protein

Intraflagellar transport protein 43 homolog

Gene

IFT43

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.1 Publication

GO - Biological processi

  1. cilium morphogenesis Source: UniProtKB
  2. intraciliary retrograde transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 43 homolog
Gene namesi
Name:IFT43
Synonyms:C14orf179
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:29669. IFT43.

Subcellular locationi

Cytoplasmcytoskeleton 1 Publication
Note: Associated with microtubules.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. intraciliary transport particle A Source: UniProtKB
  3. microtubule cytoskeleton Source: HPA
  4. microtubule organizing center Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ciliopathy, Ectodermal dysplasia

Organism-specific databases

MIMi614099. phenotype.
Orphaneti1515. Cranioectodermal dysplasia.
PharmGKBiPA145149677.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 208208Intraflagellar transport protein 43 homologPRO_0000254041Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Modified residuei78 – 781Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ96FT9.
PaxDbiQ96FT9.
PRIDEiQ96FT9.

PTM databases

PhosphoSiteiQ96FT9.

Expressioni

Gene expression databases

BgeeiQ96FT9.
CleanExiHS_C14orf179.
ExpressionAtlasiQ96FT9. baseline and differential.
GenevestigatoriQ96FT9.

Organism-specific databases

HPAiHPA003438.

Interactioni

Subunit structurei

Component of the IFT complex A (IFT-A) complex (Probable). Interacts with WDR35/IFT121.2 PublicationsCurated

Protein-protein interaction databases

BioGridi125202. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96FT9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the IFT43 family.Curated

Phylogenomic databases

eggNOGiNOG72973.
GeneTreeiENSGT00390000012060.
HOGENOMiHOG000007306.
HOVERGENiHBG081288.
InParanoidiQ96FT9.
OMAiQSEREDH.
OrthoDBiEOG7W41FG.
TreeFamiTF323566.

Family and domain databases

InterProiIPR029302. IFT43.
[Graphical view]
PfamiPF15305. IFT43. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96FT9-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEDLLDLDEE LRYSLATSRA KMGRRAQQES AQAENHLNGK NSSLTLTGET
60 70 80 90 100
SSAKLPRCRQ GGWAGDSVKA SKFRRKASEE IEDFRLRPQS LNGSDYGGDI
110 120 130 140 150
PIIPDLEEVQ EEDFVLQVAA PPSIQIKRVM TYRDLDNDLM KYSAIQTLDG
160 170 180 190 200
EIDLKLLTKV LAPEHEVRED DVGWDWDHLF TEVSSEVLTE WDPLQTEKED

PAGQARHT
Length:208
Mass (Da):23,529
Last modified:May 31, 2011 - v3
Checksum:i53586B5CAEF51A13
GO
Isoform 2 (identifier: Q96FT9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-98: KFRRKASEEIEDFRLRPQSLNGSDYGG → NGTQTGKQQLDLNACYHKTHHRDLGLASLEEA

Note: No experimental confirmation available.

Show »
Length:213
Mass (Da):23,923
Checksum:i2FE1E360D9E39AAB
GO
Isoform 3 (identifier: Q96FT9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-208: DIPIIPDLEE...EDPAGQARHT → AVPKQANNSWI

Note: No experimental confirmation available.

Show »
Length:109
Mass (Da):12,071
Checksum:iA72A9F27EB41A630
GO
Isoform 4 (identifier: Q96FT9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-208: DFRLRPQSLN...EDPAGQARHT → EYVSSILILMVSYVDLGQQCSLGGHDLFHLC

Note: Gene prediction based on EST data.

Show »
Length:113
Mass (Da):12,521
Checksum:iE65C0269E1DF2E93
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131Y → C in BAG64101. (PubMed:14702039)Curated
Sequence conflicti134 – 1341D → Y in BAG64101. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti85 – 851R → H.
Corresponds to variant rs2302858 [ dbSNP | Ensembl ].
VAR_056839
Isoform 2 (identifier: Q96FT9-2)
Natural varianti94 – 941D → N.
Corresponds to variant rs17783366 [ dbSNP | Ensembl ].

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei72 – 9827KFRRK…SDYGG → NGTQTGKQQLDLNACYHKTH HRDLGLASLEEA in isoform 2. 1 PublicationVSP_021169Add
BLAST
Alternative sequencei83 – 208126DFRLR…QARHT → EYVSSILILMVSYVDLGQQC SLGGHDLFHLC in isoform 4. CuratedVSP_047398Add
BLAST
Alternative sequencei99 – 208110DIPII…QARHT → AVPKQANNSWI in isoform 3. 1 PublicationVSP_041319Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056735 mRNA. Translation: BAG51798.1.
AK302944 mRNA. Translation: BAG64101.1.
AF107885 Genomic DNA. Translation: AAC79728.1.
AC008015 Genomic DNA. Translation: AAF03245.1.
BC010436 mRNA. Translation: AAH10436.1.
CCDSiCCDS41973.1. [Q96FT9-1]
CCDS58330.1. [Q96FT9-4]
CCDS9847.1. [Q96FT9-2]
RefSeqiNP_001096034.1. NM_001102564.1. [Q96FT9-1]
NP_001242924.1. NM_001255995.1. [Q96FT9-4]
NP_443105.2. NM_052873.2. [Q96FT9-2]
UniGeneiHs.532626.

Genome annotation databases

EnsembliENST00000238628; ENSP00000238628; ENSG00000119650. [Q96FT9-2]
ENST00000314067; ENSP00000324177; ENSG00000119650. [Q96FT9-1]
ENST00000542766; ENSP00000440064; ENSG00000119650. [Q96FT9-1]
ENST00000556742; ENSP00000451096; ENSG00000119650. [Q96FT9-4]
GeneIDi112752.
KEGGihsa:112752.
UCSCiuc001xsg.2. human. [Q96FT9-2]
uc010asl.1. human. [Q96FT9-1]

Polymorphism databases

DMDMi334302894.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056735 mRNA. Translation: BAG51798.1 .
AK302944 mRNA. Translation: BAG64101.1 .
AF107885 Genomic DNA. Translation: AAC79728.1 .
AC008015 Genomic DNA. Translation: AAF03245.1 .
BC010436 mRNA. Translation: AAH10436.1 .
CCDSi CCDS41973.1. [Q96FT9-1 ]
CCDS58330.1. [Q96FT9-4 ]
CCDS9847.1. [Q96FT9-2 ]
RefSeqi NP_001096034.1. NM_001102564.1. [Q96FT9-1 ]
NP_001242924.1. NM_001255995.1. [Q96FT9-4 ]
NP_443105.2. NM_052873.2. [Q96FT9-2 ]
UniGenei Hs.532626.

3D structure databases

ProteinModelPortali Q96FT9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125202. 3 interactions.

PTM databases

PhosphoSitei Q96FT9.

Polymorphism databases

DMDMi 334302894.

Proteomic databases

MaxQBi Q96FT9.
PaxDbi Q96FT9.
PRIDEi Q96FT9.

Protocols and materials databases

DNASUi 112752.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000238628 ; ENSP00000238628 ; ENSG00000119650 . [Q96FT9-2 ]
ENST00000314067 ; ENSP00000324177 ; ENSG00000119650 . [Q96FT9-1 ]
ENST00000542766 ; ENSP00000440064 ; ENSG00000119650 . [Q96FT9-1 ]
ENST00000556742 ; ENSP00000451096 ; ENSG00000119650 . [Q96FT9-4 ]
GeneIDi 112752.
KEGGi hsa:112752.
UCSCi uc001xsg.2. human. [Q96FT9-2 ]
uc010asl.1. human. [Q96FT9-1 ]

Organism-specific databases

CTDi 112752.
GeneCardsi GC14P076368.
GeneReviewsi IFT43.
H-InvDB HIX0020700.
HGNCi HGNC:29669. IFT43.
HPAi HPA003438.
MIMi 614068. gene.
614099. phenotype.
neXtProti NX_Q96FT9.
Orphaneti 1515. Cranioectodermal dysplasia.
PharmGKBi PA145149677.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG72973.
GeneTreei ENSGT00390000012060.
HOGENOMi HOG000007306.
HOVERGENi HBG081288.
InParanoidi Q96FT9.
OMAi QSEREDH.
OrthoDBi EOG7W41FG.
TreeFami TF323566.

Miscellaneous databases

ChiTaRSi IFT43. human.
GenomeRNAii 112752.
NextBioi 78651.
PROi Q96FT9.
SOURCEi Search...

Gene expression databases

Bgeei Q96FT9.
CleanExi HS_C14orf179.
ExpressionAtlasi Q96FT9. baseline and differential.
Genevestigatori Q96FT9.

Family and domain databases

InterProi IPR029302. IFT43.
[Graphical view ]
Pfami PF15305. IFT43. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
    Tissue: Placenta and Testis.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Uterus.
  4. "SnapShot: Intraflagellar transport."
    Cole D.G., Snell W.J.
    Cell 137:784-784(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH WDR35.
  5. "TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
    Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
    Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE IFT-A COMPLEX.
  6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-78, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: FUNCTION, INVOLVEMENT IN CED3.
  8. "Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy."
    Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M., Lundberg E.
    J. Proteomics 75:2236-2251(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiIFT43_HUMAN
AccessioniPrimary (citable) accession number: Q96FT9
Secondary accession number(s): B3KPT6
, B4DZI9, G3V385, O95418, Q9ULA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: November 26, 2014
This is version 88 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3