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] See more...

Aliases for IFT27 Gene

Aliases for IFT27 Gene

  • Intraflagellar Transport 27 2 3 5
  • RAYL 2 3 4
  • Intraflagellar Transport Protein 27 Homolog 3 4
  • RAB, Member Of RAS Oncogene Family-Like 4 2 3
  • Rab-Like Protein 4 3 4
  • FAP156 2 3
  • BBS19 2 3
  • RABL4 3 4
  • Intraflagellar Transport 27 Homolog (Chlamydomonas) 2
  • Putative GTP-Binding Protein RAY-Like 4
  • IFT27 5

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. An important paralog of this gene is RAB26.

UniProtKB/Swiss-Prot Summary 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. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFT27 Gene

Genomics for IFT27 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IFT27 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFT27 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFT27

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)
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 (PubMed:25443296). Interacts with IFT25/HSPB11 (By similarity). Interacts with TTC30B (By similarity). 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 (PubMed:25443296).

    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

Gene Families for IFT27 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for IFT27 Gene

InterPro:
Blocks:
  • Transforming protein P21 RAS signature
ProtoNet:

Suggested Antigen Peptide Sequences for IFT27 Gene

GenScript: Design optimal peptide antigens:
  • RAB, member of RAS oncogene family-like 4 (B1AH57_HUMAN)
  • Rab-like protein 4 (IFT27_HUMAN)

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. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (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:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IBA --
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:
  • Ift27 Ift27<tm1b(EUCOMM)Hmgu>
  • Ift27 Ift27<tm1a(EUCOMM)Hmgu>
  • Ift27 Ift27<tm1d(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT27

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. Cytoplasm. Cell projection, cilium, flagellum. Note=Localizes to the sperm flagellum. {ECO:0000250 UniProtKB:Q9D0P8}.

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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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:0000139 Golgi membrane IBA 21873635
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0005813 centrosome IEA --
GO:0005929 cilium TAS --
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:0001822 kidney development IEA,ISS --
GO:0006886 intracellular protein transport IEA,ISS --
GO:0007165 signal transduction IEA --
GO:0007224 smoothened signaling pathway IEA,ISS --
GO:0007283 spermatogenesis ISS --
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

mRNA/cDNA for IFT27 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFT27

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

Expression for IFT27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IFT27 Gene



Protein tissue co-expression partners for IFT27 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFT27

SOURCE GeneReport for Unigene cluster for IFT27 Gene:

Hs.415172

Evidence on tissue expression from TISSUES for IFT27 Gene

  • Nervous system(4.6)
  • Kidney(2.3)
  • Skin(2.2)
  • Eye(2.2)
  • Liver(2.1)

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
Regions:
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 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IFT27 30 31
  • 89.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IFT27 30 31 31
  • 88.11 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Ift27 30 17 31
  • 84.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ift27 30
  • 84.05 (n)
Oppossum
(Monodelphis domestica)
Mammalia IFT27 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IFT27 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IFT27 30 31
  • 72.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IFT27 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ift27 30
  • 65.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25375 30
Zebrafish
(Danio rerio)
Actinopterygii ift27 30 31
  • 61.99 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4807 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Species where no ortholog for IFT27 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFT27: view image

Paralogs for IFT27 Gene

(43) SIMAP similar genes for IFT27 Gene using alignment to 6 proteins:

  • IFT27_HUMAN
  • B1AH56_HUMAN
  • B1AH58_HUMAN
  • E9PE51_HUMAN
  • F5GZ09_HUMAN
  • H0Y6C7_HUMAN
genes like me logo Genes that share paralogs with IFT27: view

Variants for IFT27 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFT27 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
715067 Benign: not provided 36,767,370(-) C/T INTRON_VARIANT
749725 Likely Benign: not provided 36,763,952(-) C/T MISSENSE_VARIANT
782352 Likely Benign: not provided 36,762,982(-) G/A SYNONYMOUS_VARIANT
786380 Benign: not provided 36,762,941(-) G/A MISSENSE_VARIANT
789909 Likely Benign: not provided 36,767,318(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IFT27 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for IFT27 Gene

MalaCards: The human disease database

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

- 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.
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
  2. 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
  3. 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
  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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for IFT27 Gene

Sources for IFT27 Gene