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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
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Genomic context

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See IFT27 in Genome Data Viewer
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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