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Aliases for IFT27 Gene

Aliases for IFT27 Gene

  • Intraflagellar Transport 27 2 3 5
  • RAB, Member Of RAS Oncogene Family-Like 4 2 3
  • Rab-Like Protein 4 3 4
  • RABL4 3 4
  • RAYL 3 4
  • Intraflagellar Transport 27 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport Protein 27 Homolog 3
  • Putative GTP-Binding Protein RAY-Like 4
  • BBS19 3

External Ids for IFT27 Gene

Previous HGNC Symbols for IFT27 Gene

  • RABL4

Previous GeneCards Identifiers for IFT27 Gene

  • GC22M037154
  • GC22M020117

Summaries for IFT27 Gene

Entrez Gene Summary for IFT27 Gene

  • 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]

GeneCards Summary for IFT27 Gene

IFT27 (Intraflagellar Transport 27) is a Protein Coding gene. Diseases associated with IFT27 include Bardet-Biedl Syndrome 19 and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. GO annotations related to this gene include GTP binding and GTPase activity.

UniProtKB/Swiss-Prot for IFT27 Gene

  • Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT27 Gene

Genomics for IFT27 Gene

Regulatory Elements for IFT27 Gene

Enhancers for IFT27 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F036775 0.5 ENCODE 15.3 +0.0 23 1.9 ATF1 PKNOX1 CREB3L1 DEAF1 BRCA1 ZBTB40 RFX5 YY1 EGR1 ZNF143 IFT27 PVALB ENSG00000234979 ENSG00000229971 NCF4 NCF4-AS1 TEX33 IL2RB ENSG00000235237 GC22M036764
GH22F036853 0.8 Ensembl ENCODE 10.6 -77.4 -77440 1.1 CTCF CBX3 PKNOX1 ETV1 BMI1 RAD21 YY1 ZNF121 POLR2A SMC3 PVALB ENSG00000234979 IFT27 TEX33 NCF4
GH22F036541 1.3 Ensembl ENCODE 10.6 +234.4 234384 1.7 BCOR CTCF MAX ZMYM3 SIN3A ZNF384 POLR2A SCRT2 ADNP FOS IFT27 LOC100500719 ENSG00000229971
GH22F036552 0.7 ENCODE 10 +223.6 223568 0.9 GLIS1 NR2F6 EBF1 EIF3D NCF4 IFT27 IL2RB ENSG00000229971 ENSG00000261675
GH22F036781 0.6 Ensembl ENCODE 8.8 -5.9 -5893 1.2 HDGF FEZF1 ZNF2 RAD21 YY1 RARA ZNF143 FOS ZNF654 YY2 ENSG00000234979 PVALB NCF4 NCF4-AS1 ENSG00000229971 ENSG00000231467 TMPRSS6 IL2RB IFT27 GC22M036788
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IFT27 on UCSC Golden Path with GeneCards custom track

Promoters for IFT27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000170141 156 1801 ATF1 PKNOX1 CREB3L1 DEAF1 BRCA1 ZBTB40 RFX5 YY1 EGR1 ZNF143

Genomic Location for IFT27 Gene

Chromosome:
22
Start:
36,758,202 bp from pter
End:
36,776,256 bp from pter
Size:
18,055 bases
Orientation:
Minus strand

Genomic View for IFT27 Gene

Genes around IFT27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT27 Gene

Proteins for IFT27 Gene

  • Protein details for IFT27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BW83-IFT27_HUMAN
    Recommended name:
    Intraflagellar transport protein 27 homolog
    Protein Accession:
    Q9BW83
    Secondary Accessions:
    • O60897

    Protein attributes for IFT27 Gene

    Size:
    186 amino acids
    Molecular mass:
    20480 Da
    Quaternary structure:
    • Component of the IFT complex B, at least composed of IFT20, IFT25/HSPB11, IFT27, IFT52, IFT57, IFT74, IFT81, IFT88 and TRAF3IP1. Interacts with IFT25; the interaction is direct. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (By similarity). Interacts with ARL6; recognizes and binds with the GTP-free form of ARL6.

    Alternative splice isoforms for IFT27 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT27 Gene

Post-translational modifications for IFT27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IFT27 Gene

Domains & Families for IFT27 Gene

Protein Domains for IFT27 Gene

Suggested Antigen Peptide Sequences for IFT27 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BW83

UniProtKB/Swiss-Prot:

IFT27_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with IFT27: view

Function for IFT27 Gene

Molecular function for IFT27 Gene

UniProtKB/Swiss-Prot Function:
Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25443296). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6 (PubMed:25443296). Required for hedgehog signaling. Forms a subcomplex within the IFT complex B with IFT25 (By similarity).

Gene Ontology (GO) - Molecular Function for IFT27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with IFT27: view
genes like me logo Genes that share phenotypes with IFT27: view

Human Phenotype Ontology for IFT27 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT27 Gene

MGI Knock Outs for IFT27:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for IFT27 Gene

Localization for IFT27 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT27 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT27 Gene COMPARTMENTS Subcellular localization image for IFT27 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for IFT27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005813 centrosome IEA --
GO:0005929 cilium IEA,IDA 25443296
GO:0030992 intraciliary transport particle B IEA,ISS --
GO:0031514 motile cilium ISS --
genes like me logo Genes that share ontologies with IFT27: view

Pathways & Interactions for IFT27 Gene

genes like me logo Genes that share pathways with IFT27: view

Pathways by source for IFT27 Gene

Gene Ontology (GO) - Biological Process for IFT27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006886 intracellular protein transport IEA,ISS --
GO:0007224 smoothened signaling pathway IEA,ISS --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with IFT27: view

No data available for SIGNOR curated interactions for IFT27 Gene

Transcripts for IFT27 Gene

Unigene Clusters for IFT27 Gene

Intraflagellar transport 27 homolog (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFT27 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - - -
SP6:
SP7:

Relevant External Links for IFT27 Gene

GeneLoc Exon Structure for
IFT27
ECgene alternative splicing isoforms for
IFT27

Expression for IFT27 Gene

mRNA expression in normal human tissues for IFT27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFT27 Gene

This gene is overexpressed in Heart (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IFT27 Gene



Protein tissue co-expression partners for IFT27 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT27 Gene:

IFT27

SOURCE GeneReport for Unigene cluster for IFT27 Gene:

Hs.415172
genes like me logo Genes that share expression patterns with IFT27: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IFT27 Gene

Orthologs for IFT27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IFT27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT27 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia IFT27 34 35
  • 89.73 (n)
cow
(Bos Taurus)
Mammalia IFT27 34 35 35
  • 88.11 (n)
mouse
(Mus musculus)
Mammalia Ift27 34 16 35
  • 84.95 (n)
rat
(Rattus norvegicus)
Mammalia Ift27 34
  • 84.05 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT27 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT27 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT27 34 35
  • 72.22 (n)
lizard
(Anolis carolinensis)
Reptilia IFT27 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift27 34
  • 65.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25375 34
zebrafish
(Danio rerio)
Actinopterygii ift27 34 35
  • 61.99 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4807 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 41 (a)
OneToOne
Species where no ortholog for IFT27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IFT27 Gene

ENSEMBL:
Gene Tree for IFT27 (if available)
TreeFam:
Gene Tree for IFT27 (if available)

Paralogs for IFT27 Gene

No data available for Paralogs for IFT27 Gene

Variants for IFT27 Gene

Sequence variations from dbSNP and Humsavar for IFT27 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs587777546 Bardet-Biedl syndrome 19 (BBS19) [MIM:615996], Pathogenic 36,763,972(+) TGCTG(C/T)AGTTG intron-variant, reference, missense
rs1048012 -- 36,767,285(-) ACCCA(A/G)GGGAA intron-variant, downstream-variant-500B
rs1048015 -- 36,767,036(-) CTGGG(A/G)CTCTT intron-variant, nc-transcript-variant
rs11089805 -- 36,773,483(+) ccagt(C/T)tccac intron-variant
rs111386642 -- 36,762,384(+) ACTTT(A/G)TGGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFT27 Gene

Variant ID Type Subtype PubMed ID
nsv1060986 CNV gain 25217958
nsv3617 CNV deletion 18451855
nsv3618 CNV insertion 18451855
nsv511077 OTHER complex 20534489

Variation tolerance for IFT27 Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT27 Gene

Human Gene Mutation Database (HGMD)
IFT27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT27 Gene

Disorders for IFT27 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IFT27 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 19
  • bbs19
bardet-biedl syndrome
  • biedl-bardet syndrome
ift27-related bardet-biedl syndrome
  • bardet-biedl syndrome 19
- elite association - COSMIC cancer census association via MalaCards
Search IFT27 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IFT27_HUMAN
  • Bardet-Biedl syndrome 19 (BBS19) [MIM:615996]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:24488770}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFT27

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT27
genes like me logo Genes that share disorders with IFT27: view

No data available for Genatlas for IFT27 Gene

Publications for IFT27 Gene

  1. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins J.E. … Dunham I. (Genome Res. 2003) 2 3 4 64
  2. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (PMID: 24488770) Aldahmesh M.A. … Alkuraya F.S. (Hum. Mol. Genet. 2014) 3 4 64
  3. The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3. (PMID: 25443296) Liew G.M. … Nachury M.V. (Dev. Cell 2014) 3 4 64
  4. Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control. (PMID: 17276912) Qin H. … Rosenbaum J. (Curr. Biol. 2007) 2 3 64
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64

Products for IFT27 Gene

Sources for IFT27 Gene

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