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    CATIP ciliogenesis associated TTC17 interacting protein [ Homo sapiens (human) ]

    Gene ID: 375307, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CATIPprovided by HGNC
    Official Full Name
    ciliogenesis associated TTC17 interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:25062
    See related
    Ensembl:ENSG00000158428 MIM:619387; AllianceGenome:HGNC:25062
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2orf62
    Summary
    Involved in actin filament polymerization and cilium organization. Located in several cellular components, including actin cytoskeleton; nucleus; and plasma membrane. Implicated in spermatogenic failure 54. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 1.8), kidney (RPKM 1.1) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CATIP in Genome Data Viewer
    Location:
    2q35
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218356857..218368094)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218842970..218854217)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219221580..219232817)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene PNKD metallo-beta-lactamase domain containing Neighboring gene CATIP antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219208241-219208740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219213637-219214187 Neighboring gene microRNA 6810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219221475-219221986 Neighboring gene ribosomal protein L19 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12315 Neighboring gene CATIP antisense RNA 1 Neighboring gene solute carrier family 11 member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:219257303-219257972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219258642-219259310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219259311-219259979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12320 Neighboring gene CTD small phosphatase 1 Neighboring gene microRNA 26b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. Arafat M, et al. J Med Genet, 2020 Jun 5. PMID 32503832
    2. C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human. Bontems F, et al. PLoS One, 2014. PMID 24475127, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure 54
    MedGen: C5543570 OMIM: 619379 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC50811

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in actin filament polymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ciliogenesis-associated TTC17-interacting protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001320865.2 → NP_001307794.1  ciliogenesis-associated TTC17-interacting protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC021016
      UniProtKB/Swiss-Prot
      Q7Z7H3
      Conserved Domains (1) summary
      cl02594
      Location:333 → 362
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    2. NM_198559.2 → NP_940961.1  ciliogenesis-associated TTC17-interacting protein isoform 2

      See identical proteins and their annotated locations for NP_940961.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC021016
      Consensus CDS
      CCDS2414.1
      UniProtKB/Swiss-Prot
      Q7Z7H3
      Related
      ENSP00000289388.3, ENST00000289388.4
      Conserved Domains (1) summary
      cl02594
      Location:322 → 351
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      218356857..218368094
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511148.3 → XP_011509450.1  ciliogenesis-associated TTC17-interacting protein isoform X2

      Conserved Domains (1) summary
      cl02594
      Location:277 → 306
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    2. XM_005246539.5 → XP_005246596.1  ciliogenesis-associated TTC17-interacting protein isoform X1

      Conserved Domains (1) summary
      cl02594
      Location:291 → 320
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    3. XM_011511150.3 → XP_011509452.1  ciliogenesis-associated TTC17-interacting protein isoform X4

      See identical proteins and their annotated locations for XP_011509452.1

      Conserved Domains (1) summary
      cl02594
      Location:207 → 236
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    4. XM_005246541.5 → XP_005246598.1  ciliogenesis-associated TTC17-interacting protein isoform X3

      Related
      ENSP00000520539.1, ENST00000715906.1
      Conserved Domains (1) summary
      cl02594
      Location:224 → 253
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    5. XM_011511149.3 → XP_011509451.1  ciliogenesis-associated TTC17-interacting protein isoform X4

      See identical proteins and their annotated locations for XP_011509451.1

      Conserved Domains (1) summary
      cl02594
      Location:207 → 236
      DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      218842970..218854217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341913.1 → XP_054197888.1  ciliogenesis-associated TTC17-interacting protein isoform X2

    2. XM_054341912.1 → XP_054197887.1  ciliogenesis-associated TTC17-interacting protein isoform X1

    3. XM_054341916.1 → XP_054197891.1  ciliogenesis-associated TTC17-interacting protein isoform X4

    4. XM_054341914.1 → XP_054197889.1  ciliogenesis-associated TTC17-interacting protein isoform X3

    5. XM_054341915.1 → XP_054197890.1  ciliogenesis-associated TTC17-interacting protein isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7H3.1 GenPept UniProtKB/Swiss-Prot:Q7Z7H3

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