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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. Gene Ontology (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).

Additional gene information for IFT27 Gene

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

Genomics for IFT27 Gene

GeneHancer (GH) Regulatory Elements for IFT27 Gene

Promoters and enhancers for IFT27 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I036775 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 565.3 +0.0 22 1.9 PKNOX1 ATF1 SIN3A ZBTB7B BRCA1 YY1 TCF12 ZNF143 ATF7 FOS IFT27 GGA1 PVALB ENSG00000234979 ENSG00000229971 NCF4 NCF4-AS1 TEX33 IL2RB ENSG00000235237
GH22I037558 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.6 -789.3 -789266 13.7 MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 SSRP1 ZNF610 GLIS1 CDC42EP1 LGALS2 ANKRD54 IFT27 GGA1 GCAT H1F0 ENSG00000244627 GC22M042672 ENSG00000273866
GH22I036348 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +407.4 407436 40.9 MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MYH9 RBFOX2 FOXRED2 TXN2 ENSG00000252225 IFT27 LOC105377199 APOL3 EIF3D ENSG00000228719
GH22I035834 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.9 +938.5 938498 7.4 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF143 KLF13 SP3 ZNF662 RBFOX2 GC22M035839 PIR58099 RPL41P3 HMGXB4 EIF3D MCM5 IFT27 APOL6 MB
GH22I036478 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.6 +295.7 295720 4.6 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 TXN2 FOXRED2 RBFOX2 IFT27 EIF3D LOC105373018
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IFT27 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IFT27 Gene

Genomic Locations for IFT27 Gene
chr22:36,758,202-36,776,256
(GRCh38/hg38)
Size:
18,055 bases
Orientation:
Minus strand
chr22:37,154,246-37,172,300
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for IFT27 Gene

Domains & Families for IFT27 Gene

Gene Families 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).

Phenotypes From GWAS Catalog for IFT27 Gene

Gene Ontology (GO) - Molecular Function for IFT27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFT27 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
golgi apparatus 3
endosome 3
extracellular 2
mitochondrion 2
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFT27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0005794 Golgi apparatus IBA --
GO:0005813 centrosome IEA --
GO:0005929 cilium TAS --
GO:0030992 intraciliary transport particle B ISS,IEA --
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:0015031 protein transport IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
genes like me logo Genes that share ontologies with IFT27: view

No data available for SIGNOR curated interactions for IFT27 Gene

Drugs & Compounds for IFT27 Gene

No Compound Related Data Available

Transcripts for IFT27 Gene

Unigene Clusters for IFT27 Gene

Intraflagellar transport 27 homolog (Chlamydomonas):
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for IFT27 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT27 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with IFT27: view

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 33 34
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia IFT27 34 33
  • 89.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IFT27 33 34 34
  • 88.11 (n)
mouse
(Mus musculus)
Mammalia Ift27 33 16 34
  • 84.95 (n)
rat
(Rattus norvegicus)
Mammalia Ift27 33
  • 84.05 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT27 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT27 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT27 33 34
  • 72.22 (n)
lizard
(Anolis carolinensis)
Reptilia IFT27 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ift27 33
  • 65.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25375 33
zebrafish
(Danio rerio)
Actinopterygii ift27 34 33
  • 61.99 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4807 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs587777546 pathogenic, Bardet-Biedl syndrome 19, Bardet-Biedl syndrome 19 (BBS19) [MIM:615996] 36,763,972(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs112218090 benign, not provided 36,762,951(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000026886 -- 36,764,548(-) T/A genic_downstream_transcript_variant, intron_variant
rs1000286578 -- 36,763,619(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000346227 -- 36,772,688(-) G/A genic_upstream_transcript_variant, intron_variant, non_coding_transcript_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)

Additional Variant Information 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

(2) MalaCards diseases for IFT27 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 19
  • bbs19
bardet-biedl syndrome
  • biedl-bardet syndrome
- 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.

Additional Disease Information for 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 JE … Dunham I (Genome research 2003) 2 3 4 58
  2. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (PMID: 24488770) Aldahmesh MA … Alkuraya FS (Human molecular genetics 2014) 3 4 58
  3. The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3. (PMID: 25443296) Liew GM … Nachury MV (Developmental cell 2014) 3 4 58
  4. Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control. (PMID: 17276912) Qin H … Rosenbaum J (Current biology : CB 2007) 2 3 58
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58

Products for IFT27 Gene

Sources for IFT27 Gene

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