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    IFT27 intraflagellar transport 27 [ Homo sapiens (human) ]

    Gene ID: 11020, updated on 8-Jul-2021

    Summary

    Official Symbol
    IFT27provided by HGNC
    Official Full Name
    intraflagellar transport 27provided by HGNC
    Primary source
    HGNC:HGNC:18626
    See related
    Ensembl:ENSG00000100360 MIM:615870
    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
    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
    NEW
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    Genomic context

    See IFT27 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36758208..36776119, complement)
    105.20201022 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 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 pseudogene Neighboring gene calcium voltage-gated channel auxiliary subunit gamma 2 Neighboring gene CACNG2 divergent transcript Neighboring gene parvalbumin Neighboring gene NCF4 antisense RNA 1 Neighboring gene neutrophil cytosolic factor 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ33389, DKFZp686M22208

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 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
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of intraciliary transport particle B IDA
    Inferred from Direct Assay
    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 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

    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_016884029.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001177701.3NP_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
      Q9BW83
      Related
      ENSP00000393541.2, ENST00000433985.7
      Conserved Domains (1) summary
      cd04101
      Location:6172
      RabL4; Rab GTPase-like family 4 (Rab-like4)
    2. NM_001363003.2NP_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
      Conserved Domains (1) summary
      cd04101
      Location:6172
      RabL4; Rab GTPase-like family 4 (Rab-like4)
    3. NM_006860.5NP_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:6171
      RabL4; Rab GTPase-like family 4 (Rab-like4)
      pfam00071
      Location:9169
      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: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      36758208..36776119 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028540.2XP_016884029.1  intraflagellar transport protein 27 homolog isoform X2

    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.
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