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    IFT70A intraflagellar transport 70A [ Homo sapiens (human) ]

    Gene ID: 92104, updated on 28-Oct-2024

    Summary

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    Official Symbol
    IFT70Aprovided by HGNC
    Official Full Name
    intraflagellar transport 70Aprovided by HGNC
    Primary source
    HGNC:HGNC:25853
    See related
    Ensembl:ENSG00000197557 MIM:620741; AllianceGenome:HGNC:25853
    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
    FAP259; TTC30A; TTC30B; CFAP259
    Summary
    Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Predicted to be located in centrosome. Predicted to be part of intraciliary transport particle B. Predicted to be active in axonemal microtubule. [provided by Alliance of Genome Resources, Oct 2024]
    Orthologs
    all
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    Genomic context

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    See IFT70A in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177612999..177618742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178095311..178101054, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178477727..178483470, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178416524-178417328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178417329-178418132 Neighboring gene uncharacterized LOC124906098 Neighboring gene intraflagellar transport 70B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178522304-178522804 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178524216-178524860 Neighboring gene NANOG hESC enhancer GRCh37_chr2:178527523-178528025 Neighboring gene phosphodiesterase 11A Neighboring gene PDE11A antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178596032-178596711 Neighboring gene Sharpr-MPRA regulatory region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16800 Neighboring gene NANOG hESC enhancer GRCh37_chr2:178662451-178663018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178695674-178696218 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56479 Neighboring gene uncharacterized LOC124906099

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Chlamydomonas IFT70/CrDYF-1 is a core component of IFT particle complex B and is required for flagellar assembly. Fan ZC, et al. Mol Biol Cell, 2010 Aug 1. PMID 20534810, Free PMC Article
    2. Discovery and Characterization of ZUFSP/ZUP1, a Distinct Deubiquitinase Class Important for Genome Stability. Kwasna D, et al. Mol Cell, 2018 Apr 5. PMID 29576527, Free PMC Article
    3. CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. Kim DY, et al. Mol Cell, 2013 Feb 21. PMID 23333304, Free PMC Article
    4. CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement. Beyer T, et al. Mol Cell Proteomics, 2018 Jul. PMID 29615496, Free PMC Article
    5. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. Raman M, et al. Nat Cell Biol, 2015 Oct. PMID 26389662, Free PMC Article

    See all (19) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of tetratricopeptide repeat domain 30A (TTC30A) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13946, FLJ77601

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables intraciliary transport particle B binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    intraflagellar transport protein 70A
    Names
    TPR repeat protein 30A
    TPR repeat protein 30B
    Tetratricopeptide repeat protein 30B
    tetratricopeptide repeat domain 30A
    tetratricopeptide repeat protein 30A

    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_152275.4 → NP_689488.3  intraflagellar transport protein 70A

      See identical proteins and their annotated locations for NP_689488.3

      Status: VALIDATED

      Source sequence(s)
      AC073834, BC042848, BM684657
      Consensus CDS
      CCDS2276.1
      UniProtKB/Swiss-Prot
      A8K8N0, Q86WT1, Q8IVP2
      UniProtKB/TrEMBL
      B4DL36
      Related
      ENSP00000347915.4, ENST00000355689.6
      Conserved Domains (3) summary
      sd00006
      Location:159 → 182
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:159 → 216
      TPR_11; TPR repeat
      pfam13432
      Location:16 → 76
      TPR_16; Tetratricopeptide repeat

    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
      177612999..177618742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      178095311..178101054 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WT1.3 GenPept UniProtKB/Swiss-Prot:Q86WT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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