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IFT22 intraflagellar transport 22 [ Homo sapiens (human) ]

Gene ID: 64792, updated on 5-Mar-2024

Summary

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Official Symbol
IFT22provided by HGNC
Official Full Name
intraflagellar transport 22provided by HGNC
Primary source
HGNC:HGNC:21895
See related
Ensembl:ENSG00000128581 MIM:620505; AllianceGenome:HGNC:21895
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
FAP9; CFAP9; RABL5
Summary
Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport. Predicted to be located in ciliary tip. Predicted to be part of intraciliary transport particle B. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 22.2), thyroid (RPKM 11.1) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101310914..101321823, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102634389..102645291, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100954195..100965104, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100933165-100933715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100934773-100935682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100935683-100936592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100936593-100937501 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100937502-100938411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:100940231-100941139 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100943223-100943888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100945388-100946089 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100946090-100946792 Neighboring gene AZGP1 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100952259-100953086 Neighboring gene lncRNA p53 regulated and ESC associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18483 Neighboring gene E2F1 mRNA stabilizing lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101015900-101016438 Neighboring gene collagen type XXVI alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101029559-101030174 Neighboring gene Sharpr-MPRA regulatory region 586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:101041899-101042500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101044285-101044812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101054568-101055111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101063681-101064232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101064233-101064784 Neighboring gene NANOG hESC enhancer GRCh37_chr7:101065582-101066107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101079627-101080270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101080271-101080912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:101081787-101082746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101104635-101105147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101128605-101129258 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101129259-101129911 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101137182-101137752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101137753-101138322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101146871-101147560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101147561-101148250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101150569-101151328 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:101185407-101186075 Neighboring gene Sharpr-MPRA regulatory region 7535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101207140-101208002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:101208003-101208864 Neighboring gene long intergenic non-protein coding RNA 1007

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. The RABL5 homolog IFT22 regulates the cellular pool size and the amount of IFT particles partitioned to the flagellar compartment in Chlamydomonas reinhardtii. Silva DA, et al. Cytoskeleton (Hoboken), 2012 Jan. PMID 22076686
  2. A novel function for the atypical small G protein Rab-like 5 in the assembly of the trypanosome flagellum. Adhiambo C, et al. J Cell Sci, 2009 Mar 15. PMID 19240117
  3. Overall Architecture of the Intraflagellar Transport (IFT)-B Complex Containing Cluap1/IFT38 as an Essential Component of the IFT-B Peripheral Subcomplex. Katoh Y, et al. J Biol Chem, 2016 May 20. PMID 26980730, Free PMC Article
  4. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
  5. 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

See all (23) 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

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

  • FLJ13225, FLJ14117, DKFZp761N0823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intraciliary anterograde transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
located_in cilium NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cilium TAS
Traceable Author Statement
more info
  
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of intraciliary transport particle B IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
intraflagellar transport protein 22 homolog
Names
RAB, member RAS oncogene family-like 5
RAB, member of RAS oncogene family-like 5
intraflagellar transport 22 homolog
rab-like protein 5

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_001130820.3 → NP_001124292.1  intraflagellar transport protein 22 homolog isoform b

    See identical proteins and their annotated locations for NP_001124292.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform b, which is shorter than isoform a.
    Source sequence(s)
    AC006329, BC004522, CA841889, DA709553
    Consensus CDS
    CCDS47670.1
    UniProtKB/TrEMBL
    A8K889
    Related
    ENSP00000390770.2, ENST00000437644.2
    Conserved Domains (1) summary
    cl38936
    Location:5 → 91
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. NM_001130821.3 → NP_001124293.1  intraflagellar transport protein 22 homolog isoform c

    See identical proteins and their annotated locations for NP_001124293.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 through 6 encode the same isoform (c), which is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC006329, BC004522, CA841889, DA709553, DN993868
    Consensus CDS
    CCDS47671.1

  3. NM_001130822.3 → NP_001124294.1  intraflagellar transport protein 22 homolog isoform c

    See identical proteins and their annotated locations for NP_001124294.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 through 6 encode the same isoform (c), which is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC006329, AK298888, CA841889, DA709553
    Consensus CDS
    CCDS47671.1
    Related
    ENSP00000429648.1, ENST00000498704.6

  4. NM_001287525.2 → NP_001274454.1  intraflagellar transport protein 22 homolog isoform c

    See identical proteins and their annotated locations for NP_001274454.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 through 6 encode the same isoform (c), which is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC006329, AU133515, BC009823, CA841889, DA709553
    Consensus CDS
    CCDS47671.1
    Related
    ENSP00000429202.1, ENST00000517481.5

  5. NM_001287526.1 → NP_001274455.1  intraflagellar transport protein 22 homolog isoform c

    See identical proteins and their annotated locations for NP_001274455.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. Variants 3 through 6 encode the same isoform (c), which is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC006329, CA841889, DA700693, DA709553
    Consensus CDS
    CCDS47671.1
    Related
    ENSP00000478948.1, ENST00000621899.4

  6. NM_022777.4 → NP_073614.1  intraflagellar transport protein 22 homolog isoform a

    See identical proteins and their annotated locations for NP_073614.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC006329, BC009823, CA841889, DA709553
    Consensus CDS
    CCDS5719.1
    UniProtKB/Swiss-Prot
    Q49AG1, Q69YV5, Q9BSW4, Q9H7X7
    UniProtKB/TrEMBL
    A8K889
    Related
    ENSP00000320359.4, ENST00000315322.10
    Conserved Domains (1) summary
    COG1100
    Location:1 → 104
    Gem1; GTPase SAR1 family domain [General function prediction only]

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    101310914..101321823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    102634389..102645291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H7X7.1 GenPept UniProtKB/Swiss-Prot:Q9H7X7

Gene LinkOut

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