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Entry version 162 (18 Sep 2019)
Sequence version 3 (20 Apr 2010)
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Protein

Intraflagellar transport protein 80 homolog

Gene

IFT80

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

Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.1 Publication

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9P2H3

<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_and_taxonomy_section">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 80 homolog
Alternative name(s):
WD repeat-containing protein 56
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:IFT80
Synonyms:KIAA1374, WDR56
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29262 IFT80

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611177 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2H3

<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

<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>Keywords - Cellular componenti

Cell projection, Cilium, 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

Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2)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
<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_035006105H → Q in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853115EnsemblClinVar.1
Natural variantiVAR_035007549Missing in SRTD2. 1 Publication1
Natural variantiVAR_035009701A → P in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853116EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
57560

MalaCards human disease database

More...
MalaCardsi
IFT80
MIMi611263 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000068885

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

More...
Orphaneti
474 Jeune syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671664

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IFT80

Domain mapping of disease mutations (DMDM)

More...
DMDMi
294862504

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000510421 – 777Intraflagellar transport protein 80 homologAdd BLAST777

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P2H3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9P2H3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9P2H3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9P2H3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9P2H3

PeptideAtlas

More...
PeptideAtlasi
Q9P2H3

PRoteomics IDEntifications database

More...
PRIDEi
Q9P2H3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
83816 [Q9P2H3-1]
9048

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P2H3

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

More...
PhosphoSitePlusi
Q9P2H3

<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

Isoform IFT80-L is widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000068885 Expressed in 208 organ(s), highest expression level in oviduct epithelium

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P2H3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P2H3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017750
HPA035868

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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 IFT88 (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121615, 25 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9P2H3

Protein interaction database and analysis system

More...
IntActi
Q9P2H3, 21 interactors

Molecular INTeraction database

More...
MINTi
Q9P2H3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312778

<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
Q9P2H3

Database of comparative protein structure models

More...
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati12 – 50WD 1Add BLAST39
Repeati104 – 143WD 2Add BLAST40
Repeati145 – 185WD 3Add BLAST41
Repeati186 – 225WD 4Add BLAST40
Repeati227 – 265WD 5Add BLAST39
Repeati267 – 306WD 6Add BLAST40
Repeati504 – 542WD 7Add BLAST39

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1524 Eukaryota
COG2319 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000033499

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000256816

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P2H3

KEGG Orthology (KO)

More...
KOi
K19678

Identification of Orthologs from Complete Genome Data

More...
OMAi
CRTVEDE

Database of Orthologous Groups

More...
OrthoDBi
203079at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P2H3

TreeFam database of animal gene trees

More...
TreeFami
TF106117

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 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_length">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 3 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2H3-1) [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
MRLKISLLKE PKHQELVSCV GWTTAEELYS CSDDHQIVKW NLLTSETTQI
60 70 80 90 100
VKLPDDIYPI DFHWFPKSLG VKKQTQAESF VLTSSDGKFH LISKLGRVEK
110 120 130 140 150
SVEAHCGAVL AGRWNYEGTA LVTVGEDGQI KIWSKTGMLR STLAQQGTPV
160 170 180 190 200
YSVAWGPDSE KVLYTAGKQL IIKPLQPNAK VLQWKAHDGI ILKVDWNSVN
210 220 230 240 250
DLILSAGEDC KYKVWDSYGR PLYNSQPHEH PITSVAWAPD GELFAVGSFH
260 270 280 290 300
TLRLCDKTGW SYALEKPNTG SIFNIAWSID GTQIAGACGN GHVVFAHVVE
310 320 330 340 350
QHWEWKNFQV TLTKRRAMQV RNVLNDAVDL LEFRDRVIKA SLNYAHLVVS
360 370 380 390 400
TSLQCYVFST KNWNTPIIFD LKEGTVSLIL QAERHFLLVD GSSIYLYSYE
410 420 430 440 450
GRFISSPKFP GMRTDILNAQ TVSLSNDTIA IRDKADEKII FLFEASTGKP
460 470 480 490 500
LGDGKFLSHK NEILEIALDQ KGLTNDRKIA FIDKNRDLCI TSVKRFGKEE
510 520 530 540 550
QIIKLGTMVH TLAWNDTCNI LCGLQDTRFI VWYYPNTVYV DRDILPKTLY
560 570 580 590 600
ERDASEFSKN PHIVSFVGNQ VTIRRADGSL VHISITPYPA ILHEYVSSSK
610 620 630 640 650
WEDAVRLCRF VKEQTMWACL AAMAVANRDM TTAEIAYAAI GEIDKVQYIN
660 670 680 690 700
SIKNLPSKES KMAHILLFSG NIQEAEIVLL QAGLVYQAIQ ININLYNWER
710 720 730 740 750
ALELAVKYKT HVDTVLAYRQ KFLETFGKQE TNKRYLHYAE GLQIDWEKIK
760 770
AKIEMEITKE REQSSSSQSS KSIGLKP
Length:777
Mass (Da):88,035
Last modified:April 20, 2010 - 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:i24C1BA59A5E5AE4D
GO
Isoform 2 (identifier: Q9P2H3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-137: Missing.

Note: No experimental confirmation available.
Show »
Length:640
Mass (Da):72,649
Checksum:iDEF396717A4AAFD0
GO
Isoform IFT80-L (identifier: Q9P2H3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MRLKISLLKEPKHQE → MHNFEEELTC...PKRMSCSWPG

Note: Based on a naturally occurring readthrough transcript which produces a TRIM59-IFT80 fusion protein.
Show »
Length:1,080
Mass (Da):123,321
Checksum:i9172D9879003167A
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 are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JSB1C9JSB1_HUMAN
Intraflagellar transport protein 80...
IFT80
179Annotation 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>
C9IZR2C9IZR2_HUMAN
Intraflagellar transport protein 80...
IFT80
122Annotation 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>
H7C5M3H7C5M3_HUMAN
Intraflagellar transport protein 80...
IFT80
55Annotation 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>
C9J627C9J627_HUMAN
Intraflagellar transport protein 80...
IFT80
121Annotation 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>
F8WCB0F8WCB0_HUMAN
Intraflagellar transport protein 80...
IFT80
95Annotation 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>
C9JUI1C9JUI1_HUMAN
Intraflagellar transport protein 80...
IFT80
64Annotation 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>
H7C5P3H7C5P3_HUMAN
Intraflagellar transport protein 80...
IFT80
69Annotation 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>
C9JUJ1C9JUJ1_HUMAN
Intraflagellar transport protein 80...
IFT80
77Annotation 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>
H7C4K6H7C4K6_HUMAN
Intraflagellar transport protein 80...
IFT80
122Annotation 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>
C9J6I5C9J6I5_HUMAN
Intraflagellar transport protein 80...
IFT80
42Annotation 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>
There is more potential isoformShow all

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 conflicti14Q → I in BAA92612 (PubMed:10718198).Curated1
Sequence conflicti242E → D in AAH42027 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035006105H → Q in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853115EnsemblClinVar.1
Natural variantiVAR_035007549Missing in SRTD2. 1 Publication1
Natural variantiVAR_035008586T → S1 PublicationCorresponds to variant dbSNP:rs6778728EnsemblClinVar.1
Natural variantiVAR_035009701A → P in SRTD2. 1 PublicationCorresponds to variant dbSNP:rs137853116EnsemblClinVar.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_0454561 – 137Missing in isoform 2. 1 PublicationAdd BLAST137
Alternative sequenceiVSP_0575241 – 15MRLKI…PKHQE → MHNFEEELTCPICYSIFEDP RVLPCSHTFCRNCLENILQA SGNFYIWRPLRIPLKCPNCR SITEIAPTGIESLPVNFALR AIIEKYQQEDHPDIVTCPEH YRQPLNVYCLLDKKLVCGHC LTIGQHHGHPIDDLQSAYLK EKDTPQKLLEQLTDTHWTDL THLIEKLKEQKSHSEKMIQG DKEAVLQYFKELNDTLEQKK KSFLTALCDVGNLINQEYTP QIERMKEIREQQLELMALTI SLQEESPLKFLEKVDDVRQH VQILKQRPLPEVQPVEIYPR VSKILKEEWSRTEIGQIKNV LIPKMKISPKRMSCSWPG in isoform IFT80-L. 1 PublicationAdd BLAST15

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
AK303410 mRNA Translation: BAG64463.1
AC024221 Genomic DNA No translation available.
AC079594 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78643.1
CH471052 Genomic DNA Translation: EAW78644.1
CH471052 Genomic DNA Translation: EAW78645.1
CH471052 Genomic DNA Translation: EAW78646.1
CH471052 Genomic DNA Translation: EAW78648.1
BC030774 mRNA No translation available.
BC042027 mRNA Translation: AAH42027.1
BC101494 mRNA Translation: AAI01495.1
BC113669 mRNA Translation: AAI13670.1
AB037795 mRNA Translation: BAA92612.1
AL133045 mRNA Translation: CAB61372.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3188.1 [Q9P2H3-1]
CCDS54668.1 [Q9P2H3-2]

NCBI Reference Sequences

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RefSeqi
NP_001177170.1, NM_001190241.1 [Q9P2H3-2]
NP_001177171.1, NM_001190242.1 [Q9P2H3-2]
NP_065851.1, NM_020800.2 [Q9P2H3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000326448; ENSP00000312778; ENSG00000068885 [Q9P2H3-1]
ENST00000483465; ENSP00000418196; ENSG00000068885 [Q9P2H3-2]
ENST00000496589; ENSP00000420646; ENSG00000068885 [Q9P2H3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57560

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57560

UCSC genome browser

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UCSCi
uc003fdb.3 human [Q9P2H3-1]

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
AK303410 mRNA Translation: BAG64463.1
AC024221 Genomic DNA No translation available.
AC079594 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78643.1
CH471052 Genomic DNA Translation: EAW78644.1
CH471052 Genomic DNA Translation: EAW78645.1
CH471052 Genomic DNA Translation: EAW78646.1
CH471052 Genomic DNA Translation: EAW78648.1
BC030774 mRNA No translation available.
BC042027 mRNA Translation: AAH42027.1
BC101494 mRNA Translation: AAI01495.1
BC113669 mRNA Translation: AAI13670.1
AB037795 mRNA Translation: BAA92612.1
AL133045 mRNA Translation: CAB61372.1
CCDSiCCDS3188.1 [Q9P2H3-1]
CCDS54668.1 [Q9P2H3-2]
RefSeqiNP_001177170.1, NM_001190241.1 [Q9P2H3-2]
NP_001177171.1, NM_001190242.1 [Q9P2H3-2]
NP_065851.1, NM_020800.2 [Q9P2H3-1]

3D structure databases

SMRiQ9P2H3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121615, 25 interactors
CORUMiQ9P2H3
IntActiQ9P2H3, 21 interactors
MINTiQ9P2H3
STRINGi9606.ENSP00000312778

PTM databases

iPTMnetiQ9P2H3
PhosphoSitePlusiQ9P2H3

Polymorphism and mutation databases

BioMutaiIFT80
DMDMi294862504

Proteomic databases

EPDiQ9P2H3
jPOSTiQ9P2H3
MassIVEiQ9P2H3
MaxQBiQ9P2H3
PaxDbiQ9P2H3
PeptideAtlasiQ9P2H3
PRIDEiQ9P2H3
ProteomicsDBi83816 [Q9P2H3-1]
9048

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
57560
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326448; ENSP00000312778; ENSG00000068885 [Q9P2H3-1]
ENST00000483465; ENSP00000418196; ENSG00000068885 [Q9P2H3-2]
ENST00000496589; ENSP00000420646; ENSG00000068885 [Q9P2H3-2]
GeneIDi57560
KEGGihsa:57560
UCSCiuc003fdb.3 human [Q9P2H3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57560
DisGeNETi57560

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFT80
HGNCiHGNC:29262 IFT80
HPAiHPA017750
HPA035868
MalaCardsiIFT80
MIMi611177 gene
611263 phenotype
neXtProtiNX_Q9P2H3
OpenTargetsiENSG00000068885
Orphaneti474 Jeune syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA142671664

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1524 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00440000033499
HOGENOMiHOG000256816
InParanoidiQ9P2H3
KOiK19678
OMAiCRTVEDE
OrthoDBi203079at2759
PhylomeDBiQ9P2H3
TreeFamiTF106117

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport
SignaLinkiQ9P2H3

Miscellaneous databases

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

More...
ChiTaRSi
IFT80 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
IFT80

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

More...
GenomeRNAii
57560

Pharos

More...
Pharosi
Q9P2H3

Protein Ontology

More...
PROi
PR:Q9P2H3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000068885 Expressed in 208 organ(s), highest expression level in oviduct epithelium
ExpressionAtlasiQ9P2H3 baseline and differential
GenevisibleiQ9P2H3 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiIFT80_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: Q9P2H3
Secondary accession number(s): B4E0K1
, C9J8I0, Q3MJC4, Q86YF4, Q9UIX1
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: April 20, 2010
Last modified: September 18, 2019
This is version 162 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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