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IFT27 intraflagellar transport 27 [ Homo sapiens (human) ]

Gene ID: 11020, updated on 17-Jun-2019

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
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

Genomic context

See IFT27 in Genome Data Viewer
Location:
22q12.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36758208..36776119, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37154246..37172177, 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 uncharacterized LOC105373021 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cilium Assembly, organism-specific biosystem (from REACTOME)
    Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
  • Intraflagellar transport, organism-specific biosystem (from REACTOME)
    Intraflagellar transport, organism-specific biosystemIntraflagellar transport (IFT) is a motor-based process that controls the anterograde and retrograde transport of large protein complexes, ciliary cargo and structural components along the ciliary ax...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

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
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intraciliary transport ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport involved in cilium assembly TAS
Traceable Author Statement
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centrosome IEA
Inferred from Electronic Annotation
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cilium TAS
Traceable Author Statement
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
intraciliary transport particle B IDA
Inferred from Direct Assay
more info
PubMed 
intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
motile cilium ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 
sperm midpiece IEA
Inferred from Electronic Annotation
more info
 
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

NCBI Reference Sequences (RefSeq)

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
    5001..22932
    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 Annotation Release 109

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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