U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 65250, updated on 17-Jun-2024

Summary

Official Symbol
CPLANE1provided by HGNC
Official Full Name
ciliogenesis and planar polarity effector complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:25801
See related
Ensembl:ENSG00000197603 MIM:614571; AllianceGenome:HGNC:25801
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CPLANE1 in Genome Data Viewer
Location:
5p13.2
Exon count:
55
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (37075669..37249376, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (37319464..37499342, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (37106337..37249478, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15976 Neighboring gene NIPBL divergent transcript Neighboring gene keratin 18 pseudogene 31 Neighboring gene NIPBL cohesin loading factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:37013539-37014053 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:37014054-37014567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:37086387-37087171 Neighboring gene NANOG hESC enhancer GRCh37_chr5:37093777-37094356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15977 Neighboring gene ribosomal protein S4X pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:37152807-37152989 Neighboring gene MPRA-validated peak5227 silencer Neighboring gene RBIS pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15979 Neighboring gene MPRA-validated peak5228 silencer Neighboring gene CPLANE1 antisense RNA 1 Neighboring gene OFD1 pseudogene 17 Neighboring gene RNA, 7SL, cytoplasmic 37, pseudogene Neighboring gene MPRA-validated peak5230 silencer Neighboring gene nucleoporin 155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22487 Neighboring gene RNA, U7 small nuclear 75 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:37432735-37433237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22489 Neighboring gene WD repeat domain 70 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37506116-37507315 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial aplasia of the vermis
MedGen: C0431399 GeneReviews: Joubert Syndrome
Compare labs
Joubert syndrome 17
MedGen: C3553264 OMIM: 614615 GeneReviews: Joubert Syndrome
Compare labs
Orofaciodigital syndrome type 6
MedGen: C2745997 OMIM: 277170 GeneReviews: Not available
Compare labs

EBI 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.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ13231, FLJ21126, DKFZp686K02105

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_032772.3 RefSeqGene

    Range
    5000..148141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001384732.1NP_001371661.1  ciliogenesis and planar polarity effector 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC008925, AC025449, KF457889
    Consensus CDS
    CCDS93707.1
    UniProtKB/TrEMBL
    A0A494BZW6
    Related
    ENSP00000498265.2, ENST00000651892.2
    Conserved Domains (1) summary
    pfam15392
    Location:29143240
    Joubert; Joubert syndrome-associated
  2. NM_023073.4NP_075561.3  ciliogenesis and planar polarity effector 1 isoform 2

    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
    A8MUB7, B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H799, Q9H8T9
    Related
    ENSP00000421690.1, ENST00000508244.5
    Conserved Domains (1) summary
    pfam15392
    Location:28393187
    Joubert; Joubert syndrome-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    37075669..37249376 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417575.1XP_047273531.1  ciliogenesis and planar polarity effector 1 isoform X26

  2. XM_047417572.1XP_047273528.1  ciliogenesis and planar polarity effector 1 isoform X23

  3. XM_047417573.1XP_047273529.1  ciliogenesis and planar polarity effector 1 isoform X24

  4. XM_047417568.1XP_047273524.1  ciliogenesis and planar polarity effector 1 isoform X19

  5. XM_047417571.1XP_047273527.1  ciliogenesis and planar polarity effector 1 isoform X22

  6. XM_047417561.1XP_047273517.1  ciliogenesis and planar polarity effector 1 isoform X15

  7. XM_047417562.1XP_047273518.1  ciliogenesis and planar polarity effector 1 isoform X15

  8. XM_017009761.3XP_016865250.1  ciliogenesis and planar polarity effector 1 isoform X18

    Conserved Domains (1) summary
    pfam15392
    Location:28303177
    Joubert; Joubert syndrome-associated
  9. XM_011514090.4XP_011512392.1  ciliogenesis and planar polarity effector 1 isoform X25

    Conserved Domains (1) summary
    pfam15392
    Location:27873134
    Joubert; Joubert syndrome-associated
  10. XM_047417570.1XP_047273526.1  ciliogenesis and planar polarity effector 1 isoform X21

  11. XM_047417566.1XP_047273522.1  ciliogenesis and planar polarity effector 1 isoform X18

  12. XM_047417560.1XP_047273516.1  ciliogenesis and planar polarity effector 1 isoform X14

  13. XM_047417559.1XP_047273515.1  ciliogenesis and planar polarity effector 1 isoform X13

  14. XM_005248350.5XP_005248407.1  ciliogenesis and planar polarity effector 1 isoform X12

    Conserved Domains (1) summary
    pfam15392
    Location:28503197
    Joubert; Joubert syndrome-associated
  15. XM_047417557.1XP_047273513.1  ciliogenesis and planar polarity effector 1 isoform X11

  16. XM_006714491.4XP_006714554.2  ciliogenesis and planar polarity effector 1 isoform X4

  17. XM_047417564.1XP_047273520.1  ciliogenesis and planar polarity effector 1 isoform X17

  18. XM_047417549.1XP_047273505.1  ciliogenesis and planar polarity effector 1 isoform X7

  19. XM_005248349.5XP_005248406.1  ciliogenesis and planar polarity effector 1 isoform X10

    Conserved Domains (1) summary
    pfam15392
    Location:28563203
    Joubert; Joubert syndrome-associated
  20. XM_005248346.5XP_005248403.1  ciliogenesis and planar polarity effector 1 isoform X2

    Conserved Domains (1) summary
    pfam15392
    Location:28923239
    Joubert; Joubert syndrome-associated
  21. XM_047417563.1XP_047273519.1  ciliogenesis and planar polarity effector 1 isoform X16

  22. XM_047417547.1XP_047273503.1  ciliogenesis and planar polarity effector 1 isoform X6

  23. XM_047417553.1XP_047273509.1  ciliogenesis and planar polarity effector 1 isoform X9

  24. XM_005248347.5XP_005248404.1  ciliogenesis and planar polarity effector 1 isoform X3

    Conserved Domains (1) summary
    pfam15392
    Location:28923239
    Joubert; Joubert syndrome-associated
  25. XM_011514087.3XP_011512389.1  ciliogenesis and planar polarity effector 1 isoform X5

    Conserved Domains (1) summary
    pfam15392
    Location:28753222
    Joubert; Joubert syndrome-associated
  26. XM_011514088.3XP_011512390.1  ciliogenesis and planar polarity effector 1 isoform X8

    Conserved Domains (1) summary
    pfam15392
    Location:28573204
    Joubert; Joubert syndrome-associated
  27. XM_047417567.1XP_047273523.1  ciliogenesis and planar polarity effector 1 isoform X18

  28. XM_047417569.1XP_047273525.1  ciliogenesis and planar polarity effector 1 isoform X20

  29. XM_047417558.1XP_047273514.1  ciliogenesis and planar polarity effector 1 isoform X12

  30. XM_047417541.1XP_047273497.1  ciliogenesis and planar polarity effector 1 isoform X2

  31. XM_047417552.1XP_047273508.1  ciliogenesis and planar polarity effector 1 isoform X9

  32. XM_047417542.1XP_047273498.1  ciliogenesis and planar polarity effector 1 isoform X3

  33. XM_047417545.1XP_047273501.1  ciliogenesis and planar polarity effector 1 isoform X5

  34. XM_047417551.1XP_047273507.1  ciliogenesis and planar polarity effector 1 isoform X8

  35. XM_011514086.4XP_011512388.1  ciliogenesis and planar polarity effector 1 isoform X1

    See identical proteins and their annotated locations for XP_011512388.1

    UniProtKB/TrEMBL
    A0A494BZW6
    Conserved Domains (1) summary
    pfam15392
    Location:29143240
    Joubert; Joubert syndrome-associated
  36. XM_024446183.2XP_024301951.1  ciliogenesis and planar polarity effector 1 isoform X18

    Conserved Domains (1) summary
    pfam15392
    Location:28303177
    Joubert; Joubert syndrome-associated
  37. XM_047417554.1XP_047273510.1  ciliogenesis and planar polarity effector 1 isoform X10

  38. XM_047417543.1XP_047273499.1  ciliogenesis and planar polarity effector 1 isoform X2

  39. XM_047417548.1XP_047273504.1  ciliogenesis and planar polarity effector 1 isoform X6

  40. XM_047417556.1XP_047273512.1  ciliogenesis and planar polarity effector 1 isoform X9

  41. XM_047417544.1XP_047273500.1  ciliogenesis and planar polarity effector 1 isoform X3

  42. XM_047417550.1XP_047273506.1  ciliogenesis and planar polarity effector 1 isoform X8

  43. XM_011514085.4XP_011512387.1  ciliogenesis and planar polarity effector 1 isoform X1

    See identical proteins and their annotated locations for XP_011512387.1

    UniProtKB/TrEMBL
    A0A494BZW6
    Conserved Domains (1) summary
    pfam15392
    Location:29143240
    Joubert; Joubert syndrome-associated
  44. XM_047417576.1XP_047273532.1  ciliogenesis and planar polarity effector 1 isoform X27

  45. XM_047417578.1XP_047273534.1  ciliogenesis and planar polarity effector 1 isoform X29

  46. XM_017009766.2XP_016865255.1  ciliogenesis and planar polarity effector 1 isoform X31

    UniProtKB/TrEMBL
    H0Y9I8
    Related
    ENSP00000424223.1, ENST00000514429.5
    Conserved Domains (1) summary
    pfam15392
    Location:17742121
    Joubert; Joubert syndrome-associated
  47. XM_047417577.1XP_047273533.1  ciliogenesis and planar polarity effector 1 isoform X28

  48. XM_047417579.1XP_047273535.1  ciliogenesis and planar polarity effector 1 isoform X30

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    37319464..37499342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353234.1XP_054209209.1  ciliogenesis and planar polarity effector 1 isoform X26

  2. XM_054353231.1XP_054209206.1  ciliogenesis and planar polarity effector 1 isoform X23

  3. XM_054353232.1XP_054209207.1  ciliogenesis and planar polarity effector 1 isoform X24

  4. XM_054353227.1XP_054209202.1  ciliogenesis and planar polarity effector 1 isoform X19

  5. XM_054353220.1XP_054209195.1  ciliogenesis and planar polarity effector 1 isoform X15

  6. XM_054353219.1XP_054209194.1  ciliogenesis and planar polarity effector 1 isoform X15

  7. XM_054353230.1XP_054209205.1  ciliogenesis and planar polarity effector 1 isoform X22

  8. XM_054353212.1XP_054209187.1  ciliogenesis and planar polarity effector 1 isoform X10

  9. XM_054353205.1XP_054209180.1  ciliogenesis and planar polarity effector 1 isoform X6

  10. XM_054353213.1XP_054209188.1  ciliogenesis and planar polarity effector 1 isoform X9

  11. XM_054353199.1XP_054209174.1  ciliogenesis and planar polarity effector 1 isoform X3

  12. XM_054353197.1XP_054209172.1  ciliogenesis and planar polarity effector 1 isoform X2

  13. XM_054353209.1XP_054209184.1  ciliogenesis and planar polarity effector 1 isoform X9

  14. XM_054353198.1XP_054209173.1  ciliogenesis and planar polarity effector 1 isoform X3

  15. XM_054353203.1XP_054209178.1  ciliogenesis and planar polarity effector 1 isoform X5

  16. XM_054353208.1XP_054209183.1  ciliogenesis and planar polarity effector 1 isoform X8

  17. XM_054353193.1XP_054209168.1  ciliogenesis and planar polarity effector 1 isoform X1

    UniProtKB/TrEMBL
    A0A494BZW6
  18. XM_054353223.1XP_054209198.1  ciliogenesis and planar polarity effector 1 isoform X18

  19. XM_054353233.1XP_054209208.1  ciliogenesis and planar polarity effector 1 isoform X25

  20. XM_054353229.1XP_054209204.1  ciliogenesis and planar polarity effector 1 isoform X21

  21. XM_054353224.1XP_054209199.1  ciliogenesis and planar polarity effector 1 isoform X18

  22. XM_054353218.1XP_054209193.1  ciliogenesis and planar polarity effector 1 isoform X14

  23. XM_054353217.1XP_054209192.1  ciliogenesis and planar polarity effector 1 isoform X13

  24. XM_054353215.1XP_054209190.1  ciliogenesis and planar polarity effector 1 isoform X12

  25. XM_054353214.1XP_054209189.1  ciliogenesis and planar polarity effector 1 isoform X11

  26. XM_054353200.1XP_054209175.1  ciliogenesis and planar polarity effector 1 isoform X4

  27. XM_054353222.1XP_054209197.1  ciliogenesis and planar polarity effector 1 isoform X17

  28. XM_054353206.1XP_054209181.1  ciliogenesis and planar polarity effector 1 isoform X7

  29. XM_054353211.1XP_054209186.1  ciliogenesis and planar polarity effector 1 isoform X10

  30. XM_054353195.1XP_054209170.1  ciliogenesis and planar polarity effector 1 isoform X2

  31. XM_054353221.1XP_054209196.1  ciliogenesis and planar polarity effector 1 isoform X16

  32. XM_054353204.1XP_054209179.1  ciliogenesis and planar polarity effector 1 isoform X6

  33. XM_054353210.1XP_054209185.1  ciliogenesis and planar polarity effector 1 isoform X9

  34. XM_054353196.1XP_054209171.1  ciliogenesis and planar polarity effector 1 isoform X3

  35. XM_054353202.1XP_054209177.1  ciliogenesis and planar polarity effector 1 isoform X5

  36. XM_054353207.1XP_054209182.1  ciliogenesis and planar polarity effector 1 isoform X8

  37. XM_054353201.1XP_054209176.1  ciliogenesis and planar polarity effector 1 isoform X4

  38. XM_054353194.1XP_054209169.1  ciliogenesis and planar polarity effector 1 isoform X1

    UniProtKB/TrEMBL
    A0A494BZW6
  39. XM_054353226.1XP_054209201.1  ciliogenesis and planar polarity effector 1 isoform X18

  40. XM_054353228.1XP_054209203.1  ciliogenesis and planar polarity effector 1 isoform X20

  41. XM_054353216.1XP_054209191.1  ciliogenesis and planar polarity effector 1 isoform X12

  42. XM_054353225.1XP_054209200.1  ciliogenesis and planar polarity effector 1 isoform X18

  43. XM_054353235.1XP_054209210.1  ciliogenesis and planar polarity effector 1 isoform X27

  44. XM_054353238.1XP_054209213.1  ciliogenesis and planar polarity effector 1 isoform X29

  45. XM_054353240.1XP_054209215.1  ciliogenesis and planar polarity effector 1 isoform X31

    UniProtKB/TrEMBL
    H0Y9I8
  46. XM_054353237.1XP_054209212.1  ciliogenesis and planar polarity effector 1 isoform X28

  47. XM_054353236.1XP_054209211.1  ciliogenesis and planar polarity effector 1 isoform X32

  48. XM_054353239.1XP_054209214.1  ciliogenesis and planar polarity effector 1 isoform X30