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Entry version 160 (31 Jul 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Intraflagellar transport protein 140 homolog

Gene

IFT140

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 IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells (By similarity).By similarity3 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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

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

More...
SignaLinki
Q96RY7

<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 140 homologCurated
Alternative name(s):
WD and tetratricopeptide repeats protein 2
<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:IFT140Imported
Synonyms:KIAA0590, WDTC2
<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 16

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:29077 IFT140

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614620 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96RY7

<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, 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 9 with or without polydactyly (SRTD9)5 Publications
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. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
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_071000152L → F in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs1403669200EnsemblClinVar.1
Natural variantiVAR_068523212G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization; partial loss of function. 3 PublicationsCorresponds to variant dbSNP:rs201188361EnsemblClinVar.1
Natural variantiVAR_068524233I → M in SRTD9. 1 Publication1
Natural variantiVAR_071003267E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication1
Natural variantiVAR_078817280R → W in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs8058674EnsemblClinVar.1
Natural variantiVAR_068525292V → M in SRTD9; impairs centrosomal localization. 2 PublicationsCorresponds to variant dbSNP:rs431905521EnsemblClinVar.1
Natural variantiVAR_068526311Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs387907193EnsemblClinVar.1
Natural variantiVAR_068527522G → E in SRTD9. 2 PublicationsCorresponds to variant dbSNP:rs199826737EnsemblClinVar.1
Natural variantiVAR_068528576R → Q in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs373111085EnsemblClinVar.1
Natural variantiVAR_068529664E → K in SRTD9 and RP80; unknown pathological significance; partial to complete loss of basal body localization and increase of cytoplasmic localization. 3 PublicationsCorresponds to variant dbSNP:rs387907192EnsemblClinVar.1
Natural variantiVAR_080676760 – 1462Missing in SRTD9; unknown pathological significance. 1 PublicationAdd BLAST703
Natural variantiVAR_0710081360C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 PublicationCorresponds to variant dbSNP:rs431905520EnsemblClinVar.1
Retinitis pigmentosa 80 (RP80)3 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. RP80 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08066771P → L in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772757427Ensembl.1
Natural variantiVAR_080668329C → R in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1441549097EnsemblClinVar.1
Natural variantiVAR_080669333C → Y in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773372123EnsemblClinVar.1
Natural variantiVAR_080670341A → T in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200292484Ensembl.1
Natural variantiVAR_080671418A → P in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770890983Ensembl.1
Natural variantiVAR_080672440L → P in RP80; also found in a patient with Leber congenital amaurosis and renal failure; unknown pathological significance; decreased localization to the basal body. 1 PublicationCorresponds to variant dbSNP:rs1555491448EnsemblClinVar.1
Natural variantiVAR_080673459 – 1462Missing in RP80; unknown pathological significance. 1 PublicationAdd BLAST1004
Natural variantiVAR_080674484T → M in RP80; unknown pathological significance; decreased localization to the basal body. 2 PublicationsCorresponds to variant dbSNP:rs758052634EnsemblClinVar.1
Natural variantiVAR_080675663C → W in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs781117803Ensembl.1
Natural variantiVAR_068529664E → K in SRTD9 and RP80; unknown pathological significance; partial to complete loss of basal body localization and increase of cytoplasmic localization. 3 PublicationsCorresponds to variant dbSNP:rs387907192EnsemblClinVar.1
Natural variantiVAR_080678790E → K in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751323480Ensembl.1
Natural variantiVAR_080679871R → C in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767213195Ensembl.1
Natural variantiVAR_080680939S → P in RP80; unknown pathological significance; decreased localization to the basal body. 1 PublicationCorresponds to variant dbSNP:rs145549969EnsemblClinVar.1
Natural variantiVAR_080681974A → V in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745576178Ensembl.1
Natural variantiVAR_0806821276G → R in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200065348Ensembl.1
Natural variantiVAR_0806831399L → P in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs559371453EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
9742

MalaCards human disease database

More...
MalaCardsi
IFT140
MIMi266920 phenotype
617781 phenotype

Open Targets

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OpenTargetsi
ENSG00000187535

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

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Orphaneti
474 Jeune syndrome
65 Leber congenital amaurosis
791 Retinitis pigmentosa
140969 Saldino-Mainzer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671665

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
IFT140

Domain mapping of disease mutations (DMDM)

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DMDMi
74761083

<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_00000510461 – 1462Intraflagellar transport protein 140 homologAdd BLAST1462

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 residuei360PhosphoserineCombined sources1
Modified residuei1443PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96RY7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96RY7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96RY7

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

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PaxDbi
Q96RY7

PeptideAtlas

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PeptideAtlasi
Q96RY7

PRoteomics IDEntifications database

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PRIDEi
Q96RY7

ProteomicsDB human proteome resource

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ProteomicsDBi
78049 [Q96RY7-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96RY7

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

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PhosphoSitePlusi
Q96RY7

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000187535 Expressed in 169 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96RY7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96RY7 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA042197

<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 A (IFT-A) (PubMed:20889716). 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, PubMed:29220510).

Interacts (via C-terminal region) with IFT122 (via C-terminal region) (PubMed:29220510).

Interacts with TTC25 (PubMed:25860617).

4 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115090, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q96RY7

Protein interaction database and analysis system

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IntActi
Q96RY7, 17 interactors

Molecular INTeraction database

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MINTi
Q96RY7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000406012

<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>Repeati4 – 48WD 1Add BLAST45
Repeati51 – 90WD 2Add BLAST40
Repeati93 – 132WD 3Add BLAST40
Repeati139 – 188WD 4Add BLAST50
Repeati221 – 259WD 5Add BLAST39
Repeati266 – 305WD 6Add BLAST40
Repeati322 – 361WD 7Add BLAST40
Repeati772 – 807TPR 1Add BLAST36
Repeati869 – 904TPR 2Add BLAST36
Repeati906 – 934TPR 3Add BLAST29
Repeati955 – 988TPR 4Add BLAST34
Repeati1010 – 1043TPR 5Add BLAST34
Repeati1078 – 1111TPR 6Add BLAST34
Repeati1123 – 1156TPR 7Add BLAST34
Repeati1189 – 1222TPR 8Add BLAST34
Repeati1376 – 1409TPR 9Add BLAST34

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3617 Eukaryota
ENOG410XSS4 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153417

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230867

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96RY7

KEGG Orthology (KO)

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KOi
K19672

Identification of Orthologs from Complete Genome Data

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OMAi
YFDHRIE

Database of Orthologous Groups

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OrthoDBi
926106at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96RY7

TreeFam database of animal gene trees

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TreeFami
TF105851

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 1 hit
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011990 TPR-like_helical_dom_sf
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

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SMARTi
View protein in SMART
SM00320 WD40, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
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 (2+)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 2 <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 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RY7-1) [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
MALYYDHQIE APDAAGSPSF ISWHPVHPFL AVAYISTTST GSVDIYLEQG
60 70 80 90 100
ECVPDTHVER PFRVASLCWH PTRLVLAVGW ETGEVTVFNK QDKEQHTMPL
110 120 130 140 150
THTADITVLR WSPSGNCLLS GDRLGVLLLW RLDQRGRVQG TPLLKHEYGK
160 170 180 190 200
HLTHCIFRLP PPGEDLVQLA KAAVSGDEKA LDMFNWKKSS SGSLLKMGSH
210 220 230 240 250
EGLLFFVSLM DGTVHYVDEK GKTTQVVSAD STIQMLFYME KREALVVVTE
260 270 280 290 300
NLRLSLYTVP PEGKAEEVMK VKLSGKTGRR ADIALIEGSL LVMAVGEAAL
310 320 330 340 350
RFWDIERGEN YILSPDEKFG FEKGENMNCV CYCKVKGLLA AGTDRGRVAM
360 370 380 390 400
WRKVPDFLGS PGAEGKDRWA LQTPTELQGN ITQIQWGSRK NLLAVNSVIS
410 420 430 440 450
VAILSERAMS SHFHQQVAAM QVSPSLLNVC FLSTGVAHSL RTDMHISGVF
460 470 480 490 500
ATKDAVAVWN GRQVAIFELS GAAIRSAGTF LCETPVLAMH EENVYTVESN
510 520 530 540 550
RVQVRTWQGT VKQLLLFSET EGNPCFLDIC GNFLVVGTDL AHFKSFDLSR
560 570 580 590 600
REAKAHCSCR SLAELVPGVG GIASLRCSSS GSTISILPSK ADNSPDSKIC
610 620 630 640 650
FYDVEMDTVT VFDFKTGQID RRETLSFNEQ ETNKSHLFVD EGLKNYVPVN
660 670 680 690 700
HFWDQSEPRL FVCEAVQETP RSQPQSANGQ PQDGRAGPAA DVLILSFFIS
710 720 730 740 750
EEHGFLLHES FPRPATSHSL LGMEVPYYYF TRKPEEADRE DEVEPGCHHI
760 770 780 790 800
PQMVSRRPLR DFVGLEDCDK ATRDAMLHFS FFVTIGDMDE AFKSIKLIKS
810 820 830 840 850
EAVWENMARM CVKTQRLDVA KVCLGNMGHA RGARALREAE QEPELEARVA
860 870 880 890 900
VLATQLGMLE DAEQLYRKCK RHDLLNKFYQ AAGRWQEALQ VAEHHDRVHL
910 920 930 940 950
RSTYHRYAGH LEASADCSRA LSYYEKSDTH RFEVPRMLSE DLPSLELYVN
960 970 980 990 1000
KMKDKTLWRW WAQYLESQGE MDAALHYYEL ARDHFSLVRI HCFQGNVQKA
1010 1020 1030 1040 1050
AQIANETGNL AASYHLARQY ESQEEVGQAV HFYTRAQAFK NAIRLCKENG
1060 1070 1080 1090 1100
LDDQLMNLAL LSSPEDMIEA ARYYEEKGVQ MDRAVMLYHK AGHFSKALEL
1110 1120 1130 1140 1150
AFATQQFVAL QLIAEDLDET SDPALLARCS DFFIEHSQYE RAVELLLAAR
1160 1170 1180 1190 1200
KYQEALQLCL GQNMSITEEM AEKMTVAKDS SDLPEESRRE LLEQIADCCM
1210 1220 1230 1240 1250
RQGSYHLATK KYTQAGNKLK AMRALLKSGD TEKITFFASV SRQKEIYIMA
1260 1270 1280 1290 1300
ANYLQSLDWR KEPEIMKNII GFYTKGRALD LLAGFYDACA QVEIDEYQNY
1310 1320 1330 1340 1350
DKAHGALTEA YKCLAKAKAK SPLDQETRLA QLQSRMALVK RFIQARRTYT
1360 1370 1380 1390 1400
EDPKESIKQC ELLLEEPDLD STIRIGDVYG FLVEHYVRKE EYQTAYRFLE
1410 1420 1430 1440 1450
EMRRRLPLAN MSYYVSPQAV DAVHRGLGLP LPRTVPEQVR HNSMEDAREL
1460
DEEVVEEADD DP
Length:1,462
Mass (Da):165,193
Last modified:December 1, 2001 - v1
<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:i2F3CCBD998F80E3B
GO
Isoform 2 (identifier: Q96RY7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-806: Missing.

Note: No experimental confirmation available.
Show »
Length:656
Mass (Da):75,572
Checksum:iA5D5629CAA150DC0
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTA5H3BTA5_HUMAN
Intraflagellar transport protein 14...
IFT140
113Annotation 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>
H3BNC5H3BNC5_HUMAN
Intraflagellar transport protein 14...
IFT140
120Annotation 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>
I3L0Y8I3L0Y8_HUMAN
Intraflagellar transport protein 14...
IFT140
125Annotation 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>
J3KPW0J3KPW0_HUMAN
Intraflagellar transport protein 14...
IFT140
206Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA25516 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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 conflicti542H → L in BAA25516 (PubMed:9628581).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08066771P → L in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772757427Ensembl.1
Natural variantiVAR_070999110R → H1 PublicationCorresponds to variant dbSNP:rs371077545Ensembl.1
Natural variantiVAR_071000152L → F in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs1403669200EnsemblClinVar.1
Natural variantiVAR_071001161P → T1 PublicationCorresponds to variant dbSNP:rs148462329Ensembl.1
Natural variantiVAR_053396165D → A. Corresponds to variant dbSNP:rs35588860Ensembl.1
Natural variantiVAR_068523212G → R in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization; partial loss of function. 3 PublicationsCorresponds to variant dbSNP:rs201188361EnsemblClinVar.1
Natural variantiVAR_068524233I → M in SRTD9. 1 Publication1
Natural variantiVAR_071002243E → G1 PublicationCorresponds to variant dbSNP:rs539181813Ensembl.1
Natural variantiVAR_071003267E → G in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 Publication1
Natural variantiVAR_053397279R → P. Corresponds to variant dbSNP:rs4786350EnsemblClinVar.1
Natural variantiVAR_053398280R → Q. Corresponds to variant dbSNP:rs35404373EnsemblClinVar.1
Natural variantiVAR_078817280R → W in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs8058674EnsemblClinVar.1
Natural variantiVAR_068525292V → M in SRTD9; impairs centrosomal localization. 2 PublicationsCorresponds to variant dbSNP:rs431905521EnsemblClinVar.1
Natural variantiVAR_068526311Y → C in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization. 1 PublicationCorresponds to variant dbSNP:rs387907193EnsemblClinVar.1
Natural variantiVAR_080668329C → R in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1441549097EnsemblClinVar.1
Natural variantiVAR_080669333C → Y in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773372123EnsemblClinVar.1
Natural variantiVAR_080670341A → T in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200292484Ensembl.1
Natural variantiVAR_053399398V → I. Corresponds to variant dbSNP:rs34762152EnsemblClinVar.1
Natural variantiVAR_080671418A → P in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770890983Ensembl.1
Natural variantiVAR_080672440L → P in RP80; also found in a patient with Leber congenital amaurosis and renal failure; unknown pathological significance; decreased localization to the basal body. 1 PublicationCorresponds to variant dbSNP:rs1555491448EnsemblClinVar.1
Natural variantiVAR_053400451A → V. Corresponds to variant dbSNP:rs8060532EnsemblClinVar.1
Natural variantiVAR_080673459 – 1462Missing in RP80; unknown pathological significance. 1 PublicationAdd BLAST1004
Natural variantiVAR_071004459W → S1 PublicationCorresponds to variant dbSNP:rs778311141Ensembl.1
Natural variantiVAR_080674484T → M in RP80; unknown pathological significance; decreased localization to the basal body. 2 PublicationsCorresponds to variant dbSNP:rs758052634EnsemblClinVar.1
Natural variantiVAR_071005514L → H1 PublicationCorresponds to variant dbSNP:rs150903791EnsemblClinVar.1
Natural variantiVAR_068527522G → E in SRTD9. 2 PublicationsCorresponds to variant dbSNP:rs199826737EnsemblClinVar.1
Natural variantiVAR_062098561S → N. Corresponds to variant dbSNP:rs8050974EnsemblClinVar.1
Natural variantiVAR_068528576R → Q in SRTD9. 1 PublicationCorresponds to variant dbSNP:rs373111085EnsemblClinVar.1
Natural variantiVAR_053401621R → Q. Corresponds to variant dbSNP:rs11648609EnsemblClinVar.1
Natural variantiVAR_080675663C → W in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs781117803Ensembl.1
Natural variantiVAR_068529664E → K in SRTD9 and RP80; unknown pathological significance; partial to complete loss of basal body localization and increase of cytoplasmic localization. 3 PublicationsCorresponds to variant dbSNP:rs387907192EnsemblClinVar.1
Natural variantiVAR_053402670P → S. Corresponds to variant dbSNP:rs34900355EnsemblClinVar.1
Natural variantiVAR_080676760 – 1462Missing in SRTD9; unknown pathological significance. 1 PublicationAdd BLAST703
Natural variantiVAR_080677777L → R No effect on localization to the basal body. 1 PublicationCorresponds to variant dbSNP:rs34535263EnsemblClinVar.1
Natural variantiVAR_071006787D → G1 PublicationCorresponds to variant dbSNP:rs144938800Ensembl.1
Natural variantiVAR_080678790E → K in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751323480Ensembl.1
Natural variantiVAR_080679871R → C in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs767213195Ensembl.1
Natural variantiVAR_080680939S → P in RP80; unknown pathological significance; decreased localization to the basal body. 1 PublicationCorresponds to variant dbSNP:rs145549969EnsemblClinVar.1
Natural variantiVAR_080681974A → V in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs745576178Ensembl.1
Natural variantiVAR_0534031070A → V1 PublicationCorresponds to variant dbSNP:rs2235638EnsemblClinVar.1
Natural variantiVAR_0806821276G → R in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200065348Ensembl.1
Natural variantiVAR_0710071353P → R1 PublicationCorresponds to variant dbSNP:rs146666187Ensembl.1
Natural variantiVAR_0710081360C → R in SRTD9; disease phenotype consistent with Mainzer-Saldino syndrome. 1 PublicationCorresponds to variant dbSNP:rs431905520EnsemblClinVar.1
Natural variantiVAR_0806831399L → P in RP80; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs559371453EnsemblClinVar.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_0563921 – 806Missing in isoform 2. 1 PublicationAdd BLAST806

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB011162 mRNA Translation: BAA25516.2 Different initiation.
AE006467 Genomic DNA Translation: AAK61285.1
AL080069 mRNA Translation: CAB45696.1
AL031705 Genomic DNA No translation available.
Z97633 Genomic DNA No translation available.
AL031719 Genomic DNA No translation available.
Z97652 Genomic DNA No translation available.
AL133297 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85642.1
CH471112 Genomic DNA Translation: EAW85644.1
BC035577 mRNA Translation: AAH35577.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10439.1 [Q96RY7-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00345

NCBI Reference Sequences

More...
RefSeqi
NP_055529.2, NM_014714.3 [Q96RY7-1]
XP_006721053.1, XM_006720990.3 [Q96RY7-1]
XP_006721054.1, XM_006720991.3 [Q96RY7-1]
XP_016879399.1, XM_017023910.1 [Q96RY7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361339; ENSP00000354895; ENSG00000187535 [Q96RY7-2]
ENST00000426508; ENSP00000406012; ENSG00000187535 [Q96RY7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9742

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9742

UCSC genome browser

More...
UCSCi
uc002cmb.4 human [Q96RY7-1]

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
AB011162 mRNA Translation: BAA25516.2 Different initiation.
AE006467 Genomic DNA Translation: AAK61285.1
AL080069 mRNA Translation: CAB45696.1
AL031705 Genomic DNA No translation available.
Z97633 Genomic DNA No translation available.
AL031719 Genomic DNA No translation available.
Z97652 Genomic DNA No translation available.
AL133297 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85642.1
CH471112 Genomic DNA Translation: EAW85644.1
BC035577 mRNA Translation: AAH35577.1
CCDSiCCDS10439.1 [Q96RY7-1]
PIRiT00345
RefSeqiNP_055529.2, NM_014714.3 [Q96RY7-1]
XP_006721053.1, XM_006720990.3 [Q96RY7-1]
XP_006721054.1, XM_006720991.3 [Q96RY7-1]
XP_016879399.1, XM_017023910.1 [Q96RY7-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi115090, 20 interactors
CORUMiQ96RY7
IntActiQ96RY7, 17 interactors
MINTiQ96RY7
STRINGi9606.ENSP00000406012

PTM databases

iPTMnetiQ96RY7
PhosphoSitePlusiQ96RY7

Polymorphism and mutation databases

BioMutaiIFT140
DMDMi74761083

Proteomic databases

EPDiQ96RY7
jPOSTiQ96RY7
MaxQBiQ96RY7
PaxDbiQ96RY7
PeptideAtlasiQ96RY7
PRIDEiQ96RY7
ProteomicsDBi78049 [Q96RY7-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361339; ENSP00000354895; ENSG00000187535 [Q96RY7-2]
ENST00000426508; ENSP00000406012; ENSG00000187535 [Q96RY7-1]
GeneIDi9742
KEGGihsa:9742
UCSCiuc002cmb.4 human [Q96RY7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9742
DisGeNETi9742

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFT140
HGNCiHGNC:29077 IFT140
HPAiHPA042197
MalaCardsiIFT140
MIMi266920 phenotype
614620 gene
617781 phenotype
neXtProtiNX_Q96RY7
OpenTargetsiENSG00000187535
Orphaneti474 Jeune syndrome
65 Leber congenital amaurosis
791 Retinitis pigmentosa
140969 Saldino-Mainzer syndrome
PharmGKBiPA142671665

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3617 Eukaryota
ENOG410XSS4 LUCA
GeneTreeiENSGT00940000153417
HOGENOMiHOG000230867
InParanoidiQ96RY7
KOiK19672
OMAiYFDHRIE
OrthoDBi926106at2759
PhylomeDBiQ96RY7
TreeFamiTF105851

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport
SignaLinkiQ96RY7

Miscellaneous databases

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

More...
ChiTaRSi
IFT140 human

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

More...
GenomeRNAii
9742

Protein Ontology

More...
PROi
PR:Q96RY7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000187535 Expressed in 169 organ(s), highest expression level in testis
ExpressionAtlasiQ96RY7 baseline and differential
GenevisibleiQ96RY7 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR011990 TPR-like_helical_dom_sf
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, 3 hits
SUPFAMiSSF50978 SSF50978, 2 hits
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
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 nameiIF140_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: Q96RY7
Secondary accession number(s): A2A2A8
, D3DU75, O60332, Q9UG52
<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: November 22, 2005
Last sequence update: December 1, 2001
Last modified: July 31, 2019
This is version 160 of the entry and version 1 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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 chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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