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

Gene ID: 375307, updated on 5-Mar-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. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 1.8), kidney (RPKM 1.1) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
2q35
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (218356857..218368094)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (218842970..218854217)
105.20220307 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: 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

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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 Variation Viewer (GRCh37.p13)

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_2023_10

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

    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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