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Entry version 131 (12 Aug 2020)
Sequence version 3 (31 May 2011)
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Protein

Intraflagellar transport protein 43 homolog

Gene

IFT43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380).3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96FT9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620924, Intraflagellar transport

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Intraflagellar transport protein 43 homologCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IFT43Imported
Synonyms:C14orf179
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000119650.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29669, IFT43

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614068, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96FT9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cranioectodermal dysplasia 3 (CED3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Retinitis pigmentosa 81 (RP81)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP81 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08062934E → K in RP81; results in cilia shortening. 1 PublicationCorresponds to variant dbSNP:rs140366557EnsemblClinVar.1
Short-rib thoracic dysplasia 18 with polydactyly (SRTD18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080630174W → R in SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia. 1 PublicationCorresponds to variant dbSNP:rs1555369050Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Ectodermal dysplasia, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
112752

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
IFT43

MalaCards human disease database

More...
MalaCardsi
IFT43
MIMi614099, phenotype
617866, phenotype
617871, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119650

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
1515, Cranioectodermal dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA145149677

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96FT9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
IFT43

Domain mapping of disease mutations (DMDM)

More...
DMDMi
334302894

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002540411 – 208Intraflagellar transport protein 43 homologAdd BLAST208

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei78PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96FT9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96FT9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96FT9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96FT9

PeptideAtlas

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PeptideAtlasi
Q96FT9

PRoteomics IDEntifications database

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PRIDEi
Q96FT9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
32865
76555 [Q96FT9-1]
76556 [Q96FT9-2]
76557 [Q96FT9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96FT9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96FT9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the retina, predominantly in the photoreceptor outer segment.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119650, Expressed in right uterine tube and 205 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96FT9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96FT9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000119650, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the IFT complex A (IFT-A) complex (PubMed:20889716, PubMed:27932497). IFT-A complex is divided into a core subcomplex composed of IFT122:IFT140:WDR19 which is associated with TULP3 and a peripheral subcomplex composed of IFT43:WDR35:TTC21B (PubMed:27932497).

Interacts directy with IFT122, WDR35 and TTC21B (PubMed:29220510, PubMed:27932497, PubMed:19450523).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
125202, 19 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5021, IFT-A complex

Protein interaction database and analysis system

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IntActi
Q96FT9, 17 interactors

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q96FT9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96FT9

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the IFT43 family.Curated

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00390000012060

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_104337_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96FT9

KEGG Orthology (KO)

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KOi
K19675

Identification of Orthologs from Complete Genome Data

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OMAi
RKTGWGD

TreeFam database of animal gene trees

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TreeFami
TF323566

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029302, IFT43

The PANTHER Classification System

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PANTHERi
PTHR33724, PTHR33724, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF15305, IFT43, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

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

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V4X2G3V4X2_HUMAN
Intraflagellar transport protein 43...
IFT43
32Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti13Y → C in BAG64101 (PubMed:14702039).Curated1
Sequence conflicti134D → Y in BAG64101 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08062934E → K in RP81; results in cilia shortening. 1 PublicationCorresponds to variant dbSNP:rs140366557EnsemblClinVar.1
Natural variantiVAR_05683985R → H. Corresponds to variant dbSNP:rs2302858Ensembl.1
Natural variantiVAR_080630174W → R in SRTD18; patient cells show reduced amount of IFT43 protein and do not have cilia. 1 PublicationCorresponds to variant dbSNP:rs1555369050Ensembl.1
Isoform 2 (identifier: Q96FT9-2)
Natural variantiVAR_08286894D → NCuratedCorresponds to variant dbSNP:rs17783366Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02116972 – 98KFRRK…SDYGG → NGTQTGKQQLDLNACYHKTH HRDLGLASLEEA in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_04739883 – 208DFRLR…QARHT → EYVSSILILMVSYVDLGQQC SLGGHDLFHLC in isoform 4. CuratedAdd BLAST126
Alternative sequenceiVSP_04131999 – 208DIPII…QARHT → AVPKQANNSWI in isoform 3. 1 PublicationAdd BLAST110

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS41973.1 [Q96FT9-1]
CCDS58330.1 [Q96FT9-4]
CCDS9847.1 [Q96FT9-2]

NCBI Reference Sequences

More...
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000238628; ENSP00000238628; ENSG00000119650 [Q96FT9-2]
ENST00000314067; ENSP00000324177; ENSG00000119650 [Q96FT9-1]
ENST00000542766; ENSP00000440064; ENSG00000119650 [Q96FT9-1]
ENST00000556742; ENSP00000451096; ENSG00000119650 [Q96FT9-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
112752

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:112752

UCSC genome browser

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UCSCi
uc001xse.4, human [Q96FT9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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]

3D structure databases

SMRiQ96FT9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125202, 19 interactors
ComplexPortaliCPX-5021, IFT-A complex
IntActiQ96FT9, 17 interactors

PTM databases

iPTMnetiQ96FT9
PhosphoSitePlusiQ96FT9

Polymorphism and mutation databases

BioMutaiIFT43
DMDMi334302894

Proteomic databases

EPDiQ96FT9
jPOSTiQ96FT9
MassIVEiQ96FT9
MaxQBiQ96FT9
PeptideAtlasiQ96FT9
PRIDEiQ96FT9
ProteomicsDBi32865
76555 [Q96FT9-1]
76556 [Q96FT9-2]
76557 [Q96FT9-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
191, 85 antibodies

The DNASU plasmid repository

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DNASUi
112752

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
UCSCiuc001xse.4, human [Q96FT9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
112752
DisGeNETi112752
EuPathDBiHostDB:ENSG00000119650.12

GeneCards: human genes, protein and diseases

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GeneCardsi
IFT43
GeneReviewsiIFT43
HGNCiHGNC:29669, IFT43
HPAiENSG00000119650, Low tissue specificity
MalaCardsiIFT43
MIMi614068, gene
614099, phenotype
617866, phenotype
617871, phenotype
neXtProtiNX_Q96FT9
OpenTargetsiENSG00000119650
Orphaneti1515, Cranioectodermal dysplasia
PharmGKBiPA145149677

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000012060
HOGENOMiCLU_104337_0_0_1
InParanoidiQ96FT9
KOiK19675
OMAiRKTGWGD
TreeFamiTF323566

Enzyme and pathway databases

PathwayCommonsiQ96FT9
ReactomeiR-HSA-5620924, Intraflagellar transport

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
112752, 4 hits in 852 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
IFT43, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
112752
PharosiQ96FT9, Tbio

Protein Ontology

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PROi
PR:Q96FT9
RNActiQ96FT9, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119650, Expressed in right uterine tube and 205 other tissues
ExpressionAtlasiQ96FT9, baseline and differential
GenevisibleiQ96FT9, HS

Family and domain databases

InterProiView protein in InterPro
IPR029302, IFT43
PANTHERiPTHR33724, PTHR33724, 1 hit
PfamiView protein in Pfam
PF15305, IFT43, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIFT43_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96FT9
Secondary accession number(s): B3KPT6
, B4DZI9, G3V385, O95418, Q9ULA9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 31, 2011
Last modified: August 12, 2020
This is version 131 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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