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    IFT27 intraflagellar transport 27 [ Homo sapiens (human) ]

    Gene ID: 11020, updated on 5-Mar-2024

    Summary

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    Official Symbol
    IFT27provided by HGNC
    Official Full Name
    intraflagellar transport 27provided by HGNC
    Primary source
    HGNC:HGNC:18626
    See related
    Ensembl:ENSG00000100360 MIM:615870; AllianceGenome:HGNC:18626
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAYL; BBS19; RABL4; FAP156; CFAP156
    Summary
    This gene encodes a GTP-binding protein that is a core component of the intraflagellar transport complex B. Characterization of the similar Chlamydomonas protein indicates a function in cell cycle control. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in testis (RPKM 6.3), prostate (RPKM 5.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    22q12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36758211..36776119, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37214144..37232056, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37154255..37172163, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36959107-36959622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36966399-36966990 Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37004893-37005557 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37005558-37006221 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37006222-37006886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37080862-37081403 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:37104667-37104810 Neighboring gene CACNG2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37121981-37122481 Neighboring gene uncharacterized LOC124905112 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37161913-37163112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13671 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37171863-37172426 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:37172992-37173555 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37194619-37195541 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:37203445-37204171 Neighboring gene parvalbumin Neighboring gene NCF4 antisense RNA 1 Neighboring gene neutrophil cytosolic factor 4

    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. Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis. Quélin C, et al. Am J Med Genet A, 2018 Jul. PMID 29704304
    2. Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control. Qin H, et al. Curr Biol, 2007 Feb 6. PMID 17276912, Free PMC Article
    3. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Aldahmesh MA, et al. Hum Mol Genet, 2014 Jun 15. PMID 24488770, Free PMC Article
    4. Thousands of rab GTPases for the cell biologist. Diekmann Y, et al. PLoS Comput Biol, 2011 Oct. PMID 22022256, Free PMC Article
    5. Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome. Zhou Z, et al. Hum Mol Genet, 2022 May 19. PMID 34888642

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
      Title: Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
    2. Loss of function IFT27 is associated with lethal fetal ciliopathy with renal agenesis.
      Title: Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
    3. Study coupled human genetics with functional validation in zebrafish and identified IFT27 as a novel BBS gene (BBS19).
      Title: IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
    Submit: New GeneRIF Correction

    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
    Bardet-Biedl syndrome 19
    MedGen: C3889475 OMIM: 615996 GeneReviews: Bardet-Biedl Syndrome Overview
    		Compare labs

    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

    • FLJ33389, DKFZp686M22208

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intraciliary anterograde transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intraciliary transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cilium NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of intraciliary transport particle B IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of intraciliary transport particle B IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm principal piece IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    intraflagellar transport protein 27 homolog
    Names
    RAB, member of RAS oncogene family-like 4
    rab-like protein 4
    NP_001171172.1
    NP_001349932.1
    NP_006851.1
    XP_047297030.1
    XP_054180970.1

    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.

    Genomic

    1. NG_034205.1 RefSeqGene

      Range
      5015..22923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001177701.3 → NP_001171172.1  intraflagellar transport protein 27 homolog isoform 1

      See identical proteins and their annotated locations for NP_001171172.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 5 encode isoform 1.
      Source sequence(s)
      BC000566, DB457924
      Consensus CDS
      CCDS54523.1
      UniProtKB/Swiss-Prot
      O60897, Q9BW83
      Related
      ENSP00000393541.2, ENST00000433985.7
      Conserved Domains (1) summary
      cd04101
      Location:6 → 172
      RabL4; Rab GTPase-like family 4 (Rab-like4)

    2. NM_001363003.2 → NP_001349932.1  intraflagellar transport protein 27 homolog isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Both variants 1 and 5 encode isoform 1.
      Source sequence(s)
      Z80897
      Consensus CDS
      CCDS54523.1
      UniProtKB/Swiss-Prot
      O60897, Q9BW83
      Conserved Domains (1) summary
      cd04101
      Location:6 → 172
      RabL4; Rab GTPase-like family 4 (Rab-like4)

    3. NM_006860.5 → NP_006851.1  intraflagellar transport protein 27 homolog isoform 2

      See identical proteins and their annotated locations for NP_006851.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
      Source sequence(s)
      AL022729, DB457924
      Consensus CDS
      CCDS13932.1
      UniProtKB/Swiss-Prot
      Q9BW83
      Related
      ENSP00000343593.5, ENST00000340630.9
      Conserved Domains (2) summary
      cd04101
      Location:6 → 171
      RabL4; Rab GTPase-like family 4 (Rab-like4)
      pfam00071
      Location:9 → 169
      Ras; Ras family

    RNA

    1. NR_033531.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) shares the same 5' exon, lacks the remaining exons, and includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks most of the coding region, as in variant 1, and it does not have any significant coding potential.
      Source sequence(s)
      AI215119, AW236857, DB457924, DB502180
      Related
      ENST00000476548.1

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      36758211..36776119 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441074.1 → XP_047297030.1  intraflagellar transport protein 27 homolog isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37214144..37232056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324995.1 → XP_054180970.1  intraflagellar transport protein 27 homolog isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001177702.1: Suppressed sequence

      Description
      NM_001177702.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BW83.1 GenPept UniProtKB/Swiss-Prot:Q9BW83

    Gene LinkOut

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

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