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Entry version 162 (16 Oct 2019)
Sequence version 2 (04 Nov 2008)
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Protein

Intraflagellar transport protein 122 homolog

Gene

IFT122

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 the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed:29220510). Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity).By similarity2 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

Molecular functionDevelopmental protein
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
Q9HBG6

<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 122 homologCurated
Alternative name(s):
WD repeat-containing protein 10
WD repeat-containing protein 140
<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:IFT122Imported
Synonyms:SPG, WDR10, WDR140
<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:13556 IFT122

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606045 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HBG6

<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

Cranioectodermal dysplasia 1 (CED1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
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_0635847W → C in CED1; perturbed ciliary protein trafficking; no effect on interaction with ITF43:WDR35; fail to assemble IFT-A complex at the cilia base; no effect on ciliogenesis. 2 PublicationsCorresponds to variant dbSNP:rs267607193EnsemblClinVar.1
Natural variantiVAR_063585322S → F in CED1; no effect on interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs267607192Ensembl.1
Natural variantiVAR_081601391V → L in CED1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777418707Ensembl.1
Natural variantiVAR_081602495G → R in CED1; strongly decreases interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs397515568Ensembl.1
Natural variantiVAR_063586502V → G in CED1; strongly decreases interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs267607191Ensembl.1
Natural variantiVAR_081603570F → C in CED1; unknown pathological significance. 1 Publication1
Natural variantiVAR_081604572G → V in CED1; decreased ciliogenesis; perturbed ciliary protein trafficking; strongly decreases interaction with ITF43:WDR35; fail to assemble IFT-A complex at the cilia base. 2 PublicationsCorresponds to variant dbSNP:rs786205566Ensembl.1
Natural variantiVAR_081605712L → P in CED1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1224050823Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
55764

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

More...
GeneReviewsi
IFT122

MalaCards human disease database

More...
MalaCardsi
IFT122
MIMi218330 phenotype

Open Targets

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OpenTargetsi
ENSG00000163913

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

More...
Orphaneti
1515 Cranioectodermal dysplasia
93268 Short rib-polydactyly syndrome, Beemer-Langer type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37798

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HBG6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
IFT122

Domain mapping of disease mutations (DMDM)

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DMDMi
212276436

<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_00000510451 – 1241Intraflagellar transport protein 122 homologAdd BLAST1241

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9HBG6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9HBG6

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9HBG6

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

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PaxDbi
Q9HBG6

PeptideAtlas

More...
PeptideAtlasi
Q9HBG6

PRoteomics IDEntifications database

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PRIDEi
Q9HBG6

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
17562
19657
33699
3996
45277
4822
81540 [Q9HBG6-1]
81542 [Q9HBG6-3]
81543 [Q9HBG6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HBG6

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

More...
PhosphoSitePlusi
Q9HBG6

<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 many tissues. Predominant expression in testis and pituitary.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163913 Expressed in 193 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9HBG6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HBG6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041815

<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) 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, PubMed:29220510).

Interacts with IFT43:WDR35; the interaction connects the 2 IFT-A subcomplexes (PubMed:29220510).

Interacts with C11orf74; the interaction associates C11orf74 with IFT-A complex (PubMed:30476139).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ORFQ9Q2G43EBI-2805994,EBI-6248094From Human immunodeficiency virus 1.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120882, 28 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9HBG6

Protein interaction database and analysis system

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IntActi
Q9HBG6, 24 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296266

<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>Repeati10 – 50WD 1Add BLAST41
Repeati51 – 91WD 2Add BLAST41
Repeati93 – 129WD 3Add BLAST37
Repeati131 – 169WD 4Add BLAST39
Repeati278 – 317WD 5Add BLAST40
Repeati319 – 359WD 6Add BLAST41
Repeati512 – 551WD 7Add BLAST40

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Forms the trimeric core subcomplex IFT122:IFT140:WDR19 via the C-terminal region, whereas it interacts with IFT43:WDR35 via the N-terminal region containing the WD repeats.1 Publication

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1538 Eukaryota
COG2319 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001016

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261131

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9HBG6

KEGG Orthology (KO)

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KOi
K19656

Identification of Orthologs from Complete Genome Data

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OMAi
EQGWADV

Database of Orthologous Groups

More...
OrthoDBi
1275401at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HBG6

TreeFam database of animal gene trees

More...
TreeFami
TF105855

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039857 Ift122
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12764 PTHR12764, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 2 hits

PROSITE; a protein domain and family database

More...
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 (10+)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 10 <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 10 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HBG6-1) [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
MRAVLTWRDK AEHCINDIAF KPDGTQLILA AGSRLLVYDT SDGTLLQPLK
60 70 80 90 100
GHKDTVYCVA YAKDGKRFAS GSADKSVIIW TSKLEGILKY THNDAIQCVS
110 120 130 140 150
YNPITHQLAS CSSSDFGLWS PEQKSVSKHK SSSKIICCSW TNDGQYLALG
160 170 180 190 200
MFNGIISIRN KNGEEKVKIE RPGGSLSPIW SICWNPSSRW ESFWMNRENE
210 220 230 240 250
DAEDVIVNRY IQEIPSTLKS AVYSSQGSEA EEEEPEEEDD SPRDDNLEER
260 270 280 290 300
NDILAVADWG QKVSFYQLSG KQIGKDRALN FDPCCISYFT KGEYILLGGS
310 320 330 340 350
DKQVSLFTKD GVRLGTVGEQ NSWVWTCQAK PDSNYVVVGC QDGTISFYQL
360 370 380 390 400
IFSTVHGLYK DRYAYRDSMT DVIVQHLITE QKVRIKCKEL VKKIAIYRNR
410 420 430 440 450
LAIQLPEKIL IYELYSEDLS DMHYRVKEKI IKKFECNLLV VCANHIILCQ
460 470 480 490 500
EKRLQCLSFS GVKEREWQME SLIRYIKVIG GPPGREGLLV GLKNGQILKI
510 520 530 540 550
FVDNLFAIVL LKQATAVRCL DMSASRKKLA VVDENDTCLV YDIDTKELLF
560 570 580 590 600
QEPNANSVAW NTQCEDMLCF SGGGYLNIKA STFPVHRQKL QGFVVGYNGS
610 620 630 640 650
KIFCLHVFSI SAVEVPQSAP MYQYLDRKLF KEAYQIACLG VTDTDWRELA
660 670 680 690 700
MEALEGLDFE TAKKAFIRVQ DLRYLELISS IEERKKRGET NNDLFLADVF
710 720 730 740 750
SYQGKFHEAA KLYKRSGHEN LALEMYTDLC MFEYAKDFLG SGDPKETKML
760 770 780 790 800
ITKQADWARN IKEPKAAVEM YISAGEHVKA IEICGDHGWV DMLIDIARKL
810 820 830 840 850
DKAEREPLLL CATYLKKLDS PGYAAETYLK MGDLKSLVQL HVETQRWDEA
860 870 880 890 900
FALGEKHPEF KDDIYMPYAQ WLAENDRFEE AQKAFHKAGR QREAVQVLEQ
910 920 930 940 950
LTNNAVAESR FNDAAYYYWM LSMQCLDIAQ DPAQKDTMLG KFYHFQRLAE
960 970 980 990 1000
LYHGYHAIHR HTEDPFSVHR PETLFNISRF LLHSLPKDTP SGISKVKILF
1010 1020 1030 1040 1050
TLAKQSKALG AYRLARHAYD KLRGLYIPAR FQKSIELGTL TIRAKPFHDS
1060 1070 1080 1090 1100
EELVPLCYRC STNNPLLNNL GNVCINCRQP FIFSASSYDV LHLVEFYLEE
1110 1120 1130 1140 1150
GITDEEAISL IDLEVLRPKR DDRQLEIANN SSQILRLVET KDSIGDEDPF
1160 1170 1180 1190 1200
TAKLSFEQGG SEFVPVVVSR LVLRSMSRRD VLIKRWPPPL RWQYFRSLLP
1210 1220 1230 1240
DASITMCPSC FQMFHSEDYE LLVLQHGCCP YCRRCKDDPG P
Length:1,241
Mass (Da):141,825
Last modified:November 4, 2008 - v2
<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:i6C3C543369A6BDF5
GO
Isoform 3 (identifier: Q9HBG6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R

Show »
Length:1,182
Mass (Da):134,947
Checksum:i656347FD84660F4E
GO
Isoform 4 (identifier: Q9HBG6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-116: Missing.
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
     930-930: Q → QA

Note: No experimental confirmation available.
Show »
Length:1,131
Mass (Da):129,360
Checksum:iC5B817F74CDF0FD5
GO
Isoform 5 (identifier: Q9HBG6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-91: T → TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGGRIDCLRPSVQNQPGQK

Show »
Length:1,292
Mass (Da):147,386
Checksum:i654E06B93117E686
GO
Isoform 6 (identifier: Q9HBG6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     91-91: T → TSWSVMSSLHLHLPFLGLHKTVRVTATDKAPKGQGGRIDCLRPSVQNQPGQK
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
     930-930: Q → QA

Show »
Length:1,234
Mass (Da):140,579
Checksum:i8FDD8B15B1D30075
GO
Isoform 7 (identifier: Q9HBG6-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-150: Missing.
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R

Show »
Length:1,032
Mass (Da):118,477
Checksum:iD49D756E5592DEA6
GO
Isoform 8 (identifier: Q9HBG6-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-150: Missing.

Show »
Length:1,091
Mass (Da):125,355
Checksum:iA5B82F38EDC3384B
GO
Isoform 9 (identifier: Q9HBG6-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-116: GKRFASGSADKSVIIWTSKLEGILKYTHNDAIQCVSYNPITHQLASCSSSDF → VLCIE
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
     665-682: Missing.
     930-930: Q → QA

Show »
Length:1,118
Mass (Da):127,770
Checksum:i2866C11A191CC390
GO
Isoform 10 (identifier: Q9HBG6-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     66-117: Missing.
     139-247: SWTNDGQYLA...EDDSPRDDNL → R
     930-930: Q → QA

Show »
Length:1,082
Mass (Da):123,913
Checksum:i491351AEABE80626
GO
Isoform 11 (identifier: Q9HBG6-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     188-247: SRWESFWMNRENEDAEDVIVNRYIQEIPSTLKSAVYSSQGSEAEEEEPEEEDDSPRDDNL → R
     1053-1241: Missing.

Show »
Length:993
Mass (Da):113,230
Checksum:i95850537CB7AAF8D
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9Q2H0Y9Q2_HUMAN
Intraflagellar transport protein 12...
IFT122
380Annotation 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>
H0Y9I6H0Y9I6_HUMAN
Intraflagellar transport protein 12...
IFT122
245Annotation 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>
H0Y9E1H0Y9E1_HUMAN
Intraflagellar transport protein 12...
IFT122
112Annotation 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>
H0Y978H0Y978_HUMAN
Intraflagellar transport protein 12...
IFT122
321Annotation 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>
D6RAF7D6RAF7_HUMAN
Intraflagellar transport protein 12...
IFT122
80Annotation 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>
H0Y8I2H0Y8I2_HUMAN
Intraflagellar transport protein 12...
IFT122
110Annotation 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>
H0Y9E5H0Y9E5_HUMAN
Intraflagellar transport protein 12...
IFT122
99Annotation 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>
H0YAG6H0YAG6_HUMAN
Intraflagellar transport protein 12...
IFT122
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>
H0YAG9H0YAG9_HUMAN
Intraflagellar transport protein 12...
IFT122
67Annotation 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>
D6R8Z2D6R8Z2_HUMAN
Intraflagellar transport protein 12...
IFT122
96Annotation 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 are more potential isoformsShow 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 conflicti238E → D in AAH28353 (PubMed:15489334).Curated1
Sequence conflicti273I → T in AAG15427 (PubMed:11242542).Curated1
Sequence conflicti489L → S in BAD96815 (PubMed:14702039).Curated1
Sequence conflicti687R → Q in AAG15428 (PubMed:11242542).Curated1
Sequence conflicti773S → P in BAG54015 (PubMed:17974005).Curated1
Sequence conflicti843E → G in BAG54015 (PubMed:17974005).Curated1
Sequence conflicti907A → V in AAG15428 (PubMed:11242542).Curated1
Sequence conflicti996V → VR in AAG15427 (PubMed:11242542).Curated1
Sequence conflicti996V → VR in BAG60729 (PubMed:14702039).Curated1
Sequence conflicti1182L → F in BAA91888 (PubMed:14702039).Curated1
Sequence conflicti1182L → F in BAG54015 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0635847W → C in CED1; perturbed ciliary protein trafficking; no effect on interaction with ITF43:WDR35; fail to assemble IFT-A complex at the cilia base; no effect on ciliogenesis. 2 PublicationsCorresponds to variant dbSNP:rs267607193EnsemblClinVar.1
Natural variantiVAR_063585322S → F in CED1; no effect on interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs267607192Ensembl.1
Natural variantiVAR_081601391V → L in CED1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777418707Ensembl.1
Natural variantiVAR_081602495G → R in CED1; strongly decreases interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs397515568Ensembl.1
Natural variantiVAR_063586502V → G in CED1; strongly decreases interaction with ITF43:WDR35. 2 PublicationsCorresponds to variant dbSNP:rs267607191Ensembl.1
Natural variantiVAR_081603570F → C in CED1; unknown pathological significance. 1 Publication1
Natural variantiVAR_081604572G → V in CED1; decreased ciliogenesis; perturbed ciliary protein trafficking; strongly decreases interaction with ITF43:WDR35; fail to assemble IFT-A complex at the cilia base. 2 PublicationsCorresponds to variant dbSNP:rs786205566Ensembl.1
Natural variantiVAR_081605712L → P in CED1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1224050823Ensembl.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_0567731 – 150Missing in isoform 7 and isoform 8. 1 PublicationAdd BLAST150
Alternative sequenceiVSP_04331065 – 116Missing in isoform 4. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_05677465 – 116GKRFA…SSSDF → VLCIE in isoform 9. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_05677566 – 117Missing in isoform 10. 1 PublicationAdd BLAST52
Alternative sequenceiVSP_04522491T → TSWSVMSSLHLHLPFLGLHK TVRVTATDKAPKGQGGRIDC LRPSVQNQPGQK in isoform 5 and isoform 6. 1 Publication1
Alternative sequenceiVSP_056776139 – 247SWTND…RDDNL → R in isoform 10. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_041161188 – 247SRWES…RDDNL → R in isoform 3, isoform 4, isoform 6, isoform 7, isoform 9 and isoform 11. 2 PublicationsAdd BLAST60
Alternative sequenceiVSP_056777665 – 682Missing in isoform 9. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_043311930Q → QA in isoform 4, isoform 6, isoform 9 and isoform 10. 2 Publications1
Alternative sequenceiVSP_0567781053 – 1241Missing in isoform 11. 1 PublicationAdd BLAST189

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
AF244930 mRNA Translation: AAG15427.1
AF244931 mRNA Translation: AAG15428.1
AF302154 mRNA Translation: AAG13415.1
AK001759 mRNA Translation: BAA91888.1
AK293852 mRNA Translation: BAG57250.1
AK298526 mRNA Translation: BAG60729.1
AK124140 mRNA Translation: BAG54015.1
AK223095 mRNA Translation: BAD96815.1
AC080007 Genomic DNA No translation available.
AL449212 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79246.1
CH471052 Genomic DNA Translation: EAW79247.1
CH471052 Genomic DNA Translation: EAW79249.1
CH471052 Genomic DNA Translation: EAW79250.1
BC028353 mRNA Translation: AAH28353.1
BC003045 mRNA Translation: AAH03045.2
BC004238 mRNA Translation: AAH04238.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3059.1 [Q9HBG6-3]
CCDS3060.1 [Q9HBG6-5]
CCDS3061.1 [Q9HBG6-1]
CCDS3062.1 [Q9HBG6-4]
CCDS63770.1 [Q9HBG6-6]
CCDS63772.1 [Q9HBG6-8]
CCDS63773.1 [Q9HBG6-7]

Protein sequence database of the Protein Information Resource

More...
PIRi
T43484

NCBI Reference Sequences

More...
RefSeqi
NP_001267470.1, NM_001280541.1 [Q9HBG6-6]
NP_001267474.1, NM_001280545.1 [Q9HBG6-8]
NP_001267475.1, NM_001280546.1 [Q9HBG6-7]
NP_060732.2, NM_018262.3 [Q9HBG6-3]
NP_443711.2, NM_052985.3 [Q9HBG6-5]
NP_443715.1, NM_052989.2 [Q9HBG6-1]
NP_443716.1, NM_052990.2 [Q9HBG6-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000296266; ENSP00000296266; ENSG00000163913 [Q9HBG6-5]
ENST00000347300; ENSP00000323973; ENSG00000163913 [Q9HBG6-3]
ENST00000348417; ENSP00000324005; ENSG00000163913 [Q9HBG6-1]
ENST00000349441; ENSP00000324165; ENSG00000163913 [Q9HBG6-4]
ENST00000431818; ENSP00000410946; ENSG00000163913 [Q9HBG6-8]
ENST00000440957; ENSP00000401569; ENSG00000163913 [Q9HBG6-7]
ENST00000504021; ENSP00000422179; ENSG00000163913 [Q9HBG6-9]
ENST00000507564; ENSP00000425536; ENSG00000163913 [Q9HBG6-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55764

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55764

UCSC genome browser

More...
UCSCi
uc003eml.5 human [Q9HBG6-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF244930 mRNA Translation: AAG15427.1
AF244931 mRNA Translation: AAG15428.1
AF302154 mRNA Translation: AAG13415.1
AK001759 mRNA Translation: BAA91888.1
AK293852 mRNA Translation: BAG57250.1
AK298526 mRNA Translation: BAG60729.1
AK124140 mRNA Translation: BAG54015.1
AK223095 mRNA Translation: BAD96815.1
AC080007 Genomic DNA No translation available.
AL449212 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79246.1
CH471052 Genomic DNA Translation: EAW79247.1
CH471052 Genomic DNA Translation: EAW79249.1
CH471052 Genomic DNA Translation: EAW79250.1
BC028353 mRNA Translation: AAH28353.1
BC003045 mRNA Translation: AAH03045.2
BC004238 mRNA Translation: AAH04238.1
CCDSiCCDS3059.1 [Q9HBG6-3]
CCDS3060.1 [Q9HBG6-5]
CCDS3061.1 [Q9HBG6-1]
CCDS3062.1 [Q9HBG6-4]
CCDS63770.1 [Q9HBG6-6]
CCDS63772.1 [Q9HBG6-8]
CCDS63773.1 [Q9HBG6-7]
PIRiT43484
RefSeqiNP_001267470.1, NM_001280541.1 [Q9HBG6-6]
NP_001267474.1, NM_001280545.1 [Q9HBG6-8]
NP_001267475.1, NM_001280546.1 [Q9HBG6-7]
NP_060732.2, NM_018262.3 [Q9HBG6-3]
NP_443711.2, NM_052985.3 [Q9HBG6-5]
NP_443715.1, NM_052989.2 [Q9HBG6-1]
NP_443716.1, NM_052990.2 [Q9HBG6-4]

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

BioGridi120882, 28 interactors
CORUMiQ9HBG6
IntActiQ9HBG6, 24 interactors
STRINGi9606.ENSP00000296266

PTM databases

iPTMnetiQ9HBG6
PhosphoSitePlusiQ9HBG6

Polymorphism and mutation databases

BioMutaiIFT122
DMDMi212276436

Proteomic databases

jPOSTiQ9HBG6
MassIVEiQ9HBG6
MaxQBiQ9HBG6
PaxDbiQ9HBG6
PeptideAtlasiQ9HBG6
PRIDEiQ9HBG6
ProteomicsDBi17562
19657
33699
3996
45277
4822
81540 [Q9HBG6-1]
81542 [Q9HBG6-3]
81543 [Q9HBG6-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
55764

Genome annotation databases

EnsembliENST00000296266; ENSP00000296266; ENSG00000163913 [Q9HBG6-5]
ENST00000347300; ENSP00000323973; ENSG00000163913 [Q9HBG6-3]
ENST00000348417; ENSP00000324005; ENSG00000163913 [Q9HBG6-1]
ENST00000349441; ENSP00000324165; ENSG00000163913 [Q9HBG6-4]
ENST00000431818; ENSP00000410946; ENSG00000163913 [Q9HBG6-8]
ENST00000440957; ENSP00000401569; ENSG00000163913 [Q9HBG6-7]
ENST00000504021; ENSP00000422179; ENSG00000163913 [Q9HBG6-9]
ENST00000507564; ENSP00000425536; ENSG00000163913 [Q9HBG6-6]
GeneIDi55764
KEGGihsa:55764
UCSCiuc003eml.5 human [Q9HBG6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55764
DisGeNETi55764

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFT122
GeneReviewsiIFT122
HGNCiHGNC:13556 IFT122
HPAiHPA041815
MalaCardsiIFT122
MIMi218330 phenotype
606045 gene
neXtProtiNX_Q9HBG6
OpenTargetsiENSG00000163913
Orphaneti1515 Cranioectodermal dysplasia
93268 Short rib-polydactyly syndrome, Beemer-Langer type
PharmGKBiPA37798

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1538 Eukaryota
COG2319 LUCA
GeneTreeiENSGT00390000001016
HOGENOMiHOG000261131
InParanoidiQ9HBG6
KOiK19656
OMAiEQGWADV
OrthoDBi1275401at2759
PhylomeDBiQ9HBG6
TreeFamiTF105855

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport
SignaLinkiQ9HBG6

Miscellaneous databases

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

More...
ChiTaRSi
IFT122 human

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

More...
GenomeRNAii
55764
PharosiQ9HBG6

Protein Ontology

More...
PROi
PR:Q9HBG6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163913 Expressed in 193 organ(s), highest expression level in testis
ExpressionAtlasiQ9HBG6 baseline and differential
GenevisibleiQ9HBG6 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR039857 Ift122
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR12764 PTHR12764, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 7 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 nameiIF122_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: Q9HBG6
Secondary accession number(s): B3KW53
, B4DEY9, B4DPW7, E7EQF4, E9PDG2, E9PDX2, G3XAB1, H7C3C0, Q53G36, Q8TC06, Q9BTB9, Q9BTY4, Q9HAT9, Q9HBG5, Q9NV68, Q9UF80
<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 27, 2002
Last sequence update: November 4, 2008
Last modified: October 16, 2019
This is version 162 of the entry and version 2 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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