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

    Gene ID: 65250, updated on 3-Apr-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
    not available
    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

    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