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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
    mouse all
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    Genomic context

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    See IFT22 in Genome Data Viewer
    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

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

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