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

Gene ID: 92104, updated on 10-Dec-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, Dec 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)

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

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