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Entry version 121 (11 Dec 2019)
Sequence version 4 (05 Sep 2012)
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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

<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 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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000197603.13

Human Gene Nomenclature Database

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HGNCi
HGNC:25801 CPLANE1

Online Mendelian Inheritance in Man (OMIM)

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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.

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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

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BioMutai
C5orf42

Domain mapping of disease mutations (DMDM)

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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

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EPDi
Q9H799

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H799

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H799

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H799

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

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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

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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

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

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H799 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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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)

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BioGridi
122413, 7 interactors

Protein interaction database and analysis system

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IntActi
Q9H799, 10 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000389014

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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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

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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

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HOGENOMi
HOG000155525

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H799

KEGG Orthology (KO)

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KOi
K22859

Identification of Orthologs from Complete Genome Data

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OMAi
CNQKENP

Database of Orthologous Groups

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OrthoDBi
55296at2759

Database for complete collections of gene phylogenies

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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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