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CPLANE1 ciliogenesis and planar polarity effector 1 [ Homo sapiens (human) ]

Gene ID: 65250, updated on 7-Jul-2019

Summary

Official Symbol
CPLANE1provided by HGNC
Official Full Name
ciliogenesis and planar polarity effector 1provided by HGNC
Primary source
HGNC:HGNC:25801
See related
Ensembl:ENSG00000197603 MIM:614571
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Hug; OFD6; JBTS17; C5orf42
Summary
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
Expression
Ubiquitous expression in thyroid (RPKM 3.4), testis (RPKM 2.7) and 25 other tissues See more
Orthologs

Genomic context

See CPLANE1 in Genome Data Viewer
Location:
5p13.2
Exon count:
60
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (37063928..37249499, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37079423..37249530, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NIPBL divergent transcript Neighboring gene keratin 18 pseudogene 31 Neighboring gene NIPBL cohesin loading factor Neighboring gene ribosomal protein S4X pseudogene 6 Neighboring gene RBIS pseudogene 2 Neighboring gene uncharacterized LOC105374727 Neighboring gene OFD1 pseudogene 17 Neighboring gene RNA, 7SL, cytoplasmic 37, pseudogene Neighboring gene nucleoporin 155 Neighboring gene RNA, U7 small nuclear 75 pseudogene Neighboring gene WD repeat domain 70 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Joubert syndrome
MedGen: C0431399 GeneReviews: Joubert Syndrome
Compare labs
Joubert syndrome 17
MedGen: C3553264 OMIM: 614615 GeneReviews: Joubert Syndrome
Compare labs
Orofaciodigital syndrome 6
MedGen: C2745997 OMIM: 277170 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13231, FLJ21126, DKFZp686K02105

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
establishment of planar polarity IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
protein localization to ciliary transition zone IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ciliogenesis and planar polarity effector 1
Names
protein JBTS17
transmembrane protein ENSP00000382582

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032772.2 RefSeqGene

    Range
    5001..148201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_023073.3NP_075561.3  ciliogenesis and planar polarity effector 1

    See identical proteins and their annotated locations for NP_075561.3

    Status: REVIEWED

    Source sequence(s)
    AC025449, AL833065, AW996738, BC144069, DB448866, DN831769, DW009792, DW009948, DW009949, DW009996, DW009997, DY655086, EG327639, KF457889
    Consensus CDS
    CCDS34146.2
    UniProtKB/Swiss-Prot
    Q9H799
    Related
    ENSP00000389014.2, ENST00000425232.6
    Conserved Domains (1) summary
    pfam15392
    Location:28393187
    Joubert; Joubert syndrome-associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    37063928..37249499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514089.2XP_011512391.1  ciliogenesis and planar polarity effector 1 isoform X8

    Conserved Domains (1) summary
    pfam15392
    Location:28933194
    Joubert; Joubert syndrome-associated
  2. XM_005248349.4XP_005248406.1  ciliogenesis and planar polarity effector 1 isoform X6

    Conserved Domains (1) summary
    pfam15392
    Location:28563204
    Joubert; Joubert syndrome-associated
  3. XM_005248350.4XP_005248407.1  ciliogenesis and planar polarity effector 1 isoform X7

    Conserved Domains (1) summary
    pfam15392
    Location:28503198
    Joubert; Joubert syndrome-associated
  4. XM_005248346.4XP_005248403.1  ciliogenesis and planar polarity effector 1 isoform X2

    Conserved Domains (1) summary
    pfam15392
    Location:28923240
    Joubert; Joubert syndrome-associated
  5. XM_005248347.4XP_005248404.1  ciliogenesis and planar polarity effector 1 isoform X3

    Conserved Domains (1) summary
    pfam15392
    Location:28923240
    Joubert; Joubert syndrome-associated
  6. XM_005248345.4XP_005248402.1  ciliogenesis and planar polarity effector 1 isoform X1

    See identical proteins and their annotated locations for XP_005248402.1

    Conserved Domains (1) summary
    pfam15392
    Location:28933241
    Joubert; Joubert syndrome-associated
  7. XM_011514087.2XP_011512389.1  ciliogenesis and planar polarity effector 1 isoform X4

    Conserved Domains (1) summary
    pfam15392
    Location:28753223
    Joubert; Joubert syndrome-associated
  8. XM_011514088.2XP_011512390.1  ciliogenesis and planar polarity effector 1 isoform X5

    Conserved Domains (1) summary
    pfam15392
    Location:28573205
    Joubert; Joubert syndrome-associated
  9. XM_017009761.2XP_016865250.1  ciliogenesis and planar polarity effector 1 isoform X9

    Conserved Domains (1) summary
    pfam15392
    Location:28303177
    Joubert; Joubert syndrome-associated
  10. XM_011514086.3XP_011512388.1  ciliogenesis and planar polarity effector 1 isoform X1

    See identical proteins and their annotated locations for XP_011512388.1

    Conserved Domains (1) summary
    pfam15392
    Location:28933241
    Joubert; Joubert syndrome-associated
  11. XM_011514090.3XP_011512392.1  ciliogenesis and planar polarity effector 1 isoform X10

    Conserved Domains (1) summary
    pfam15392
    Location:27873134
    Joubert; Joubert syndrome-associated
  12. XM_024446186.1XP_024301954.1  ciliogenesis and planar polarity effector 1 isoform X13

    Conserved Domains (1) summary
    pfam15392
    Location:25622909
    Joubert; Joubert syndrome-associated
  13. XM_024446185.1XP_024301953.1  ciliogenesis and planar polarity effector 1 isoform X11

    Conserved Domains (1) summary
    pfam15392
    Location:26693016
    Joubert; Joubert syndrome-associated
  14. XM_024446184.1XP_024301952.1  ciliogenesis and planar polarity effector 1 isoform X10

    Conserved Domains (1) summary
    pfam15392
    Location:27873134
    Joubert; Joubert syndrome-associated
  15. XM_017009765.1XP_016865254.1  ciliogenesis and planar polarity effector 1 isoform X14

  16. XM_017009763.1XP_016865252.1  ciliogenesis and planar polarity effector 1 isoform X13

    Conserved Domains (1) summary
    pfam15392
    Location:25622909
    Joubert; Joubert syndrome-associated
  17. XM_011514094.2XP_011512396.1  ciliogenesis and planar polarity effector 1 isoform X15

    Related
    ENSP00000424223.1, ENST00000514429.5
    Conserved Domains (1) summary
    pfam15392
    Location:19682316
    Joubert; Joubert syndrome-associated
  18. XM_017009766.1XP_016865255.1  ciliogenesis and planar polarity effector 1 isoform X16

    Conserved Domains (1) summary
    pfam15392
    Location:17742122
    Joubert; Joubert syndrome-associated
  19. XM_006714491.3XP_006714554.1  ciliogenesis and planar polarity effector 1 isoform X17

    Conserved Domains (1) summary
    pfam15392
    Location:10841432
    Joubert; Joubert syndrome-associated
  20. XM_024446183.1XP_024301951.1  ciliogenesis and planar polarity effector 1 isoform X9

    Conserved Domains (1) summary
    pfam15392
    Location:28303177
    Joubert; Joubert syndrome-associated
  21. XM_011514085.3XP_011512387.1  ciliogenesis and planar polarity effector 1 isoform X1

    See identical proteins and their annotated locations for XP_011512387.1

    Conserved Domains (1) summary
    pfam15392
    Location:28933241
    Joubert; Joubert syndrome-associated
  22. XM_017009760.1XP_016865249.1  ciliogenesis and planar polarity effector 1 isoform X9

    Conserved Domains (1) summary
    pfam15392
    Location:28303177
    Joubert; Joubert syndrome-associated
  23. XM_011514092.2XP_011512394.1  ciliogenesis and planar polarity effector 1 isoform X12

    Conserved Domains (1) summary
    pfam15392
    Location:28933009
    Joubert; Joubert syndrome-associated

RNA

  1. XR_925644.2 RNA Sequence

  2. XR_001742208.1 RNA Sequence

  3. XR_002956171.1 RNA Sequence

    Related
    ENST00000651892.1
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