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UniProtKB - Q9H799 (CPLN1_HUMAN)

Entry version 121 (11 Dec 2019)
Sequence version 4 (05 Sep 2012)
Previous versions | rss
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Protein

Ciliogenesis and planar polarity effector 1

Gene

CPLANE1

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

Involved in ciliogenesis (PubMed:25877302). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).By similarity1 Publication

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

Complete GO annotation on QuickGO ...

<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

<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:
Ciliogenesis and planar polarity effector 1Curated
Alternative name(s):
Protein JBTS17
<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:CPLANE1Imported
Synonyms:C5orf42, JBTS17Imported
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000197603.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:25801 CPLANE1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614571 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H799

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei592 – 612HelicalSequence analysisAdd BLAST21
Transmembranei631 – 651HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Membrane

<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

Joubert syndrome 17 (JBTS17)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
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_0681651336R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar.1
Isoform 2 (identifier: Q9H799-5)
Natural variantiVAR_0828782684A → T in JBTS17. 1 Publication1
Orofaciodigital syndrome 6 (OFD6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0725531127S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar.1
Natural variantiVAR_0725541184R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl.1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar.1
Natural variantiVAR_0775581200A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar.1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar.1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		65250

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

More...GeneReviewsi		CPLANE1

MalaCards human disease database

More...MalaCardsi		CPLANE1
MIMi277170 phenotype
614615 phenotype

Open Targets

More...OpenTargetsi		ENSG00000197603

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

More...Orphaneti		475 Joubert syndrome
65684 Monomelic amyotrophy
2754 Orofaciodigital syndrome type 6

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162380188

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H799 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C5orf42

Domain mapping of disease mutations (DMDM)

More...DMDMi		403314397

<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_00003321331 – 3197Ciliogenesis and planar polarity effector 1Add BLAST3197

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 residuei2407PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H799

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H799

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H799

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H799

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

More...PaxDbi		Q9H799

PeptideAtlas

More...PeptideAtlasi		Q9H799

PRoteomics IDEntifications database

More...PRIDEi		Q9H799

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		2094
81091 [Q9H799-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H799

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

More...PhosphoSitePlusi		Q9H799

<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

More...Bgeei		ENSG00000197603 Expressed in 148 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H799 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H799 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA036775
HPA036776

<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

Interacts with FUZ; INTU and WDPCP; the interactors are proposed to form the core CPLANE (ciliogenesis and planar polarity effectors) complex.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122413, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9H799, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000389014

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H799 protein

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

3D structure databases

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

More...SMRi		Q9H799

Database of comparative protein structure models

More...ModBasei		Search...

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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili2457 – 2487Sequence analysisAdd BLAST31
Coiled coili2691 – 2724Sequence analysisAdd BLAST34

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IG9U Eukaryota
ENOG410XTEK LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00800000124150

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000155525

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H799

KEGG Orthology (KO)

More...KOi		K22859

Identification of Orthologs from Complete Genome Data

More...OMAi		CNQKENP

Database of Orthologous Groups

More...OrthoDBi		55296at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H799

TreeFam database of animal gene trees

More...TreeFami		TF351288

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028236 CPLANE1
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR14492 PTHR14492, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15392 Joubert, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978 SSF50978, 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: Q9H799-1) [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
MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI 
        60         70         80         90        100
KKKIPSLQPF LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI 
       110        120        130        140        150
TEKPKEMIKA TVASSLRLYL YVSGNGKRIV LITPSGCIFL WEYLELKNIL 
       160        170        180        190        200
SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA VVNAVFIKNE LFGDCCLCSF 
       210        220        230        240        250
TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH LCSLIPKCES 
       260        270        280        290        300
VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC 
       310        320        330        340        350
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL 
       360        370        380        390        400
ITFGCSIEFG PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR 
       410        420        430        440        450
FSIKAHSRLP YLVISDGYMV TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY 
       460        470        480        490        500
QSVILSKPKG KGLNLRSLNS LRSSLLEHQG NESSADFTVP KFLQAEETIN 
       510        520        530        540        550
ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK EGRLEFASMF 
       560        570        580        590        600
DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV 
       610        620        630        640        650
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD 
       660        670        680        690        700
IRYKQDVGHL IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN 
       710        720        730        740        750
GVYILQPEVI SASADGSKIT AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI 
       760        770        780        790        800
HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ AQLNRRVPEA DSQLTEKMTH 
       810        820        830        840        850
EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL GSYEKSVQLW 
       860        870        880        890        900
KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI 
       910        920        930        940        950
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF 
       960        970        980        990       1000
TNQQLCILPP HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW 
      1010       1020       1030       1040       1050
TVEYALELLF IGGLVPEAVW LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR 
      1060       1070       1080       1090       1100
SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA SLEAKNEMGS KYKQFTDPIE 
      1110       1120       1130       1140       1150
EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF SKRLWGLVPF 
      1160       1170       1180       1190       1200
GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA 
      1210       1220       1230       1240       1250
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA 
      1260       1270       1280       1290       1300
FFRPGAAGDH KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR 
      1310       1320       1330       1340       1350
ENVKGEKDLE VEFDSCMIEH CLSAVEWAYR MLPFSRFFNM EELIQDIILS 
      1360       1370       1380       1390       1400
LIGELPPIRK VAEIFVKAFP YPEDVRVPLR DKYHSLHQRL RHCVVKGPQT 
      1410       1420       1430       1440       1450
EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE KPDEAPGVDR 
      1460       1470       1480       1490       1500
YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM 
      1510       1520       1530       1540       1550
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY 
      1560       1570       1580       1590       1600
IKFLDLFLSY ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL 
      1610       1620       1630       1640       1650
KRHQSKTKSQ NVFRAGSCFV VAPESYESEK SSSLNDEYGM HLENQKLSSS 
      1660       1670       1680       1690       1700
VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL KQRSIYKIQD DTREKCLIQR 
      1710       1720       1730       1740       1750
SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF GSIGRLLEWM 
      1760       1770       1780       1790       1800
IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK 
      1810       1820       1830       1840       1850
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK 
      1860       1870       1880       1890       1900
SCQNILNRMP TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT 
      1910       1920       1930       1940       1950
EEEMDMHISD YEEDIEESVG GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR 
      1960       1970       1980       1990       2000
EEPLETIMEE KSTEQKGMIE AFSHPGHTTP QSMQVDTSSE ISSAQISTYK 
      2010       2020       2030       2040       2050
EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC SESVRQMLQD 
      2060       2070       2080       2090       2100
EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL 
      2110       2120       2130       2140       2150
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST 
      2160       2170       2180       2190       2200
GNVQNVPHGS IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL 
      2210       2220       2230       2240       2250
STPSVVQKAP RLIPHAKTFS PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP 
      2260       2270       2280       2290       2300
FRPLPQPREA WGLSDSFQPA LPQRAAQTTP ASHLNVSQYN TEARKKEVEQ 
      2310       2320       2330       2340       2350
KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK LFDVKPGTLE 
      2360       2370       2380       2390       2400
ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS 
      2410       2420       2430       2440       2450
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK 
      2460       2470       2480       2490       2500
VKIEPPEVRQ GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN 
      2510       2520       2530       2540       2550
NDDSEIIKKP KEQQEHCGSH PLDDFDVPFE MLQDDNTSAG LHFMASVKKK 
      2560       2570       2580       2590       2600
AIGSQDASTN TDPEHEPLTA PQLLVPDVYL NLKLSSEMSE KPWSPSIPHT 
      2610       2620       2630       2640       2650
VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV TNAVPPHNFK 
      2660       2670       2680       2690       2700
SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL 
      2710       2720       2730       2740       2750
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP 
      2760       2770       2780       2790       2800
EFKKTLASKT ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT 
      2810       2820       2830       2840       2850
CVFPTADSAV SLSSSSDQNT TSPGMNSSDE LCESVSVHPL QMTGLTDIAD 
      2860       2870       2880       2890       2900
IIDDLIIKDG VSSEELGLTE QAMGTSRIQH YSGRHSQRTD KERREIQAWM 
      2910       2920       2930       2940       2950
KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI RLRQKMKHEK 
      2960       2970       2980       2990       3000
DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC 
      3010       3020       3030       3040       3050
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG 
      3060       3070       3080       3090       3100
TATFTIQKKA GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA 
      3110       3120       3130       3140       3150
PQTKQVCVEY EREETVVSPW TIPSEIHKIL HESHNSLLQD LSPTEEEEPE 
      3160       3170       3180       3190 
HPFGVGGVDS VSESTGSILS KLDWNAIEDM VASVEDQGLS VHWALDL
Length:3,197
Mass (Da):361,746
Last modified:September 5, 2012 - v4
<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:iD84DFC20FE309992
GO
Isoform 2 (identifier: Q9H799-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2604-2604: L → LVGHTYINVIDIEANDLLQ
     2652-2652: Q → QEVTPACLDGKSLRAGITEVKEPSVTSPTPSDIQQNK
     2877-2879: RIQ → SFT
     2880-3197: Missing.

Show »
Length:2,933
Mass (Da):331,433
Checksum:i59BA501F007B72CC
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
H0Y9I8H0Y9I8_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
2,263Annotation 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>
H0YA77H0YA77_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
1,889Annotation 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>
R4GNH6R4GNH6_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
496Annotation 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>
A0A494BZW6A0A494BZW6_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
2,284Annotation 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 AAH28410 differs from that shown. Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.Curated
The sequence AAI44070 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI50595 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14513 differs from that shown. Contaminating sequence. Potential intronic sequence in 5'.Curated
The sequence BAB14513 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB14999 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB14999 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15539 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04822 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti1788L → S in AAI44070 (PubMed:15372022).Curated1
Sequence conflicti1788L → S in AAI50595 (PubMed:15372022).Curated1
Sequence conflicti2325N → D in BAB14999 (PubMed:15489334).Curated1
Sequence conflicti2612P → L in BAC04822 (PubMed:15489334).Curated1
Sequence conflicti2767V → A in BAC04822 (PubMed:15489334).Curated1
Sequence conflicti2786E → G in BAB15539 (PubMed:15489334).Curated1
Sequence conflicti2810 – 2811VS → CQ in AAH74774 (PubMed:15372022).Curated2
Sequence conflicti2828S → R in BAB15539 (PubMed:15489334).Curated1
Sequence conflicti2831L → W in BAB15539 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076776322W → G1 Publication1
Natural variantiVAR_076777875S → F1 PublicationCorresponds to variant dbSNP:rs794727154EnsemblClinVar.1
Natural variantiVAR_0725531127S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar.1
Natural variantiVAR_0725541184R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl.1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar.1
Natural variantiVAR_0767781196L → R1 Publication1
Natural variantiVAR_0775581200A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar.1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar.1
Natural variantiVAR_0681651336R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar.1
Natural variantiVAR_0429481437I → T. Corresponds to variant dbSNP:rs6859950EnsemblClinVar.1
Natural variantiVAR_0767801772S → G1 PublicationCorresponds to variant dbSNP:rs79377186EnsemblClinVar.1
Natural variantiVAR_0681661794P → L May be associated with susceptibility to monomelic amyotrophy. 2 PublicationsCorresponds to variant dbSNP:rs75589774EnsemblClinVar.1
Natural variantiVAR_0429492033F → C1 PublicationCorresponds to variant dbSNP:rs10076911EnsemblClinVar.1
Natural variantiVAR_0681672033F → S. Corresponds to variant dbSNP:rs10076911EnsemblClinVar.1
Natural variantiVAR_0429502143I → V. Corresponds to variant dbSNP:rs6884652EnsemblClinVar.1
Natural variantiVAR_0429512592P → L. Corresponds to variant dbSNP:rs16903518EnsemblClinVar.1
Natural variantiVAR_0767812750P → S1 PublicationCorresponds to variant dbSNP:rs377107065Ensembl.1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1
Natural variantiVAR_0429523062G → R. Corresponds to variant dbSNP:rs7702892EnsemblClinVar.1
Isoform 2 (identifier: Q9H799-5)
Natural variantiVAR_0828782684A → T in JBTS17. 1 Publication1

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_0440522604L → LVGHTYINVIDIEANDLLQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_0440532652Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2. 1 Publication1
Alternative sequenceiVSP_0440542877 – 2879RIQ → SFT in isoform 2. 1 Publication3
Alternative sequenceiVSP_0440552880 – 3197Missing in isoform 2. 1 PublicationAdd BLAST318

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
AC008925 Genomic DNA No translation available.
AC025449 Genomic DNA No translation available.
BC028410 mRNA Translation: AAH28410.1 Sequence problems.
BC074774 mRNA Translation: AAH74774.2
BC144069 mRNA Translation: AAI44070.1 Different initiation.
BC150594 mRNA Translation: AAI50595.1 Different initiation.
AK023293 mRNA Translation: BAB14513.1 Sequence problems.
AK024779 mRNA Translation: BAB14999.1 Sequence problems.
AK026735 mRNA Translation: BAB15539.1 Different initiation.
AK096581 mRNA Translation: BAC04822.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34146.2 [Q9H799-1]

NCBI Reference Sequences

More...RefSeqi		NP_075561.3, NM_023073.3 [Q9H799-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000425232; ENSP00000389014; ENSG00000197603 [Q9H799-1]
ENST00000508244; ENSP00000421690; ENSG00000197603 [Q9H799-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		65250

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:65250

UCSC genome browser

More...UCSCi		uc011cpa.1 human [Q9H799-1]

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
AC008925 Genomic DNA No translation available.
AC025449 Genomic DNA No translation available.
BC028410 mRNA Translation: AAH28410.1 Sequence problems.
BC074774 mRNA Translation: AAH74774.2
BC144069 mRNA Translation: AAI44070.1 Different initiation.
BC150594 mRNA Translation: AAI50595.1 Different initiation.
AK023293 mRNA Translation: BAB14513.1 Sequence problems.
AK024779 mRNA Translation: BAB14999.1 Sequence problems.
AK026735 mRNA Translation: BAB15539.1 Different initiation.
AK096581 mRNA Translation: BAC04822.1 Different initiation.
CCDSiCCDS34146.2 [Q9H799-1]
RefSeqiNP_075561.3, NM_023073.3 [Q9H799-1]

3D structure databases

SMRiQ9H799
ModBaseiSearch...

Protein-protein interaction databases

BioGridi122413, 7 interactors
IntActiQ9H799, 10 interactors
STRINGi9606.ENSP00000389014

PTM databases

iPTMnetiQ9H799
PhosphoSitePlusiQ9H799

Polymorphism and mutation databases

BioMutaiC5orf42
DMDMi403314397

Proteomic databases

EPDiQ9H799
jPOSTiQ9H799
MassIVEiQ9H799
MaxQBiQ9H799
PaxDbiQ9H799
PeptideAtlasiQ9H799
PRIDEiQ9H799
ProteomicsDBi2094
81091 [Q9H799-1]

Genome annotation databases

EnsembliENST00000425232; ENSP00000389014; ENSG00000197603 [Q9H799-1]
ENST00000508244; ENSP00000421690; ENSG00000197603 [Q9H799-1]
GeneIDi65250
KEGGihsa:65250
UCSCiuc011cpa.1 human [Q9H799-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		65250
DisGeNETi65250
EuPathDBiHostDB:ENSG00000197603.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		CPLANE1
GeneReviewsiCPLANE1
HGNCiHGNC:25801 CPLANE1
HPAiHPA036775
HPA036776
MalaCardsiCPLANE1
MIMi277170 phenotype
614571 gene
614615 phenotype
neXtProtiNX_Q9H799
OpenTargetsiENSG00000197603
Orphaneti475 Joubert syndrome
65684 Monomelic amyotrophy
2754 Orofaciodigital syndrome type 6
PharmGKBiPA162380188

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IG9U Eukaryota
ENOG410XTEK LUCA
GeneTreeiENSGT00800000124150
HOGENOMiHOG000155525
InParanoidiQ9H799
KOiK22859
OMAiCNQKENP
OrthoDBi55296at2759
PhylomeDBiQ9H799
TreeFamiTF351288

Miscellaneous databases

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

More...ChiTaRSi		C5orf42 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C5orf42

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

More...GenomeRNAii		65250
PharosiQ9H799 Tbio

Protein Ontology

More...PROi		PR:Q9H799
RNActiQ9H799 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197603 Expressed in 148 organ(s), highest expression level in kidney
ExpressionAtlasiQ9H799 baseline and differential
GenevisibleiQ9H799 HS

Family and domain databases

InterProiView protein in InterPro
IPR028236 CPLANE1
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR14492 PTHR14492, 1 hit
PfamiView protein in Pfam
PF15392 Joubert, 1 hit
SUPFAMiSSF50978 SSF50978, 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 nameiCPLN1_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: Q9H799
Secondary accession number(s): A8MUB7
, B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H8T9
<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: April 29, 2008
Last sequence update: September 5, 2012
Last modified: December 11, 2019
This is version 121 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

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