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Protein

Intraflagellar transport protein 27 homolog

Gene

IFT27

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi12 – 19GTPBy similarity8
Nucleotide bindingi64 – 68GTPBy similarity5
Nucleotide bindingi123 – 126GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: GO_Central
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Biological processDifferentiation, Protein transport, Spermatogenesis, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 27 homolog
Alternative name(s):
Putative GTP-binding protein RAY-like
Rab-like protein 4
Gene namesi
Name:IFT27
Synonyms:RABL4, RAYL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100360.14
HGNCiHGNC:18626 IFT27
MIMi615870 gene
neXtProtiNX_Q9BW83

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Flagellum

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 19 (BBS19)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615996
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071804100C → Y in BBS19; loss-of-function mutation; results in significantly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs587777546EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi19T → N: GDP-locked. 1 Publication1
Mutagenesisi68K → A: GTP-locked. 1 Publication1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

Organism-specific databases

DisGeNETi11020
MalaCardsiIFT27
MIMi615996 phenotype
OpenTargetsiENSG00000100360
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA38609

Polymorphism and mutation databases

BioMutaiIFT27
DMDMi20178058

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000827151 – 186Intraflagellar transport protein 27 homologAdd BLAST186

Proteomic databases

EPDiQ9BW83
MaxQBiQ9BW83
PaxDbiQ9BW83
PeptideAtlasiQ9BW83
PRIDEiQ9BW83
ProteomicsDBi79261
79262 [Q9BW83-2]

PTM databases

iPTMnetiQ9BW83
PhosphoSitePlusiQ9BW83

Expressioni

Gene expression databases

BgeeiENSG00000100360 Expressed in 206 organ(s), highest expression level in right uterine tube
CleanExiHS_RABL4
ExpressionAtlasiQ9BW83 baseline and differential
GenevisibleiQ9BW83 HS

Organism-specific databases

HPAiHPA018418

Interactioni

Subunit structurei

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 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).By similarity1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi116210, 34 interactors
CORUMiQ9BW83
IntActiQ9BW83, 48 interactors
STRINGi9606.ENSP00000393541

Structurei

3D structure databases

ProteinModelPortaliQ9BW83
SMRiQ9BW83
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG0079 Eukaryota
ENOG4111IWZ LUCA
GeneTreeiENSGT00870000136549
HOVERGENiHBG105393
InParanoidiQ9BW83
KOiK07934
OMAiDSVEFFI
OrthoDBiEOG091G0WL1
PhylomeDBiQ9BW83
TreeFamiTF329292

Family and domain databases

CDDicd04101 RabL4, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR034112 RabL4_euk
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BW83-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVKLAAKCIL AGDPAVGKTA LAQIFRSDGA HFQKSYTLTT GMDLVVKTVP
60 70 80 90 100
VPDTGDSVEL FIFDSAGKEL FSEMLDKLWE SPNVLCLVYD VTNEESFNNC
110 120 130 140 150
SKWLEKARSQ APGISLPGVL VGNKTDLAGR RAVDSAEARA WALGQGLECF
160 170 180
ETSVKEMENF EAPFHCLAKQ FHQLYREKVE VFRALA
Length:186
Mass (Da):20,480
Last modified:June 1, 2001 - v1
Checksum:i78CACF9ADF929B02
GO
Isoform 2 (identifier: Q9BW83-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-12: Missing.

Show »
Length:185
Mass (Da):20,423
Checksum:i74F6D5790343B58F
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AH58B1AH58_HUMAN
Intraflagellar transport protein 27...
IFT27
116Annotation score:
H0Y6C7H0Y6C7_HUMAN
Intraflagellar transport protein 27...
IFT27
129Annotation score:
F5GZ09F5GZ09_HUMAN
Intraflagellar transport protein 27...
IFT27
183Annotation score:
B1AH56B1AH56_HUMAN
Intraflagellar transport protein 27...
IFT27
50Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071804100C → Y in BBS19; loss-of-function mutation; results in significantly reduced protein levels. 1 PublicationCorresponds to variant dbSNP:rs587777546EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02101912Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL022729 mRNA Translation: CAA18787.1
CR456558 mRNA Translation: CAG30444.1
BT006815 mRNA Translation: AAP35461.1
Z80897 Genomic DNA No translation available.
BC000566 mRNA Translation: AAH00566.1
CCDSiCCDS13932.1 [Q9BW83-2]
CCDS54523.1 [Q9BW83-1]
RefSeqiNP_001171172.1, NM_001177701.2 [Q9BW83-1]
NP_006851.1, NM_006860.4 [Q9BW83-2]
XP_006724169.1, XM_006724106.2
UniGeneiHs.415172

Genome annotation databases

EnsembliENST00000340630; ENSP00000343593; ENSG00000100360 [Q9BW83-2]
ENST00000433985; ENSP00000393541; ENSG00000100360 [Q9BW83-1]
GeneIDi11020
KEGGihsa:11020
UCSCiuc003apu.4 human [Q9BW83-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL022729 mRNA Translation: CAA18787.1
CR456558 mRNA Translation: CAG30444.1
BT006815 mRNA Translation: AAP35461.1
Z80897 Genomic DNA No translation available.
BC000566 mRNA Translation: AAH00566.1
CCDSiCCDS13932.1 [Q9BW83-2]
CCDS54523.1 [Q9BW83-1]
RefSeqiNP_001171172.1, NM_001177701.2 [Q9BW83-1]
NP_006851.1, NM_006860.4 [Q9BW83-2]
XP_006724169.1, XM_006724106.2
UniGeneiHs.415172

3D structure databases

ProteinModelPortaliQ9BW83
SMRiQ9BW83
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116210, 34 interactors
CORUMiQ9BW83
IntActiQ9BW83, 48 interactors
STRINGi9606.ENSP00000393541

PTM databases

iPTMnetiQ9BW83
PhosphoSitePlusiQ9BW83

Polymorphism and mutation databases

BioMutaiIFT27
DMDMi20178058

Proteomic databases

EPDiQ9BW83
MaxQBiQ9BW83
PaxDbiQ9BW83
PeptideAtlasiQ9BW83
PRIDEiQ9BW83
ProteomicsDBi79261
79262 [Q9BW83-2]

Protocols and materials databases

DNASUi11020
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340630; ENSP00000343593; ENSG00000100360 [Q9BW83-2]
ENST00000433985; ENSP00000393541; ENSG00000100360 [Q9BW83-1]
GeneIDi11020
KEGGihsa:11020
UCSCiuc003apu.4 human [Q9BW83-1]

Organism-specific databases

CTDi11020
DisGeNETi11020
EuPathDBiHostDB:ENSG00000100360.14
GeneCardsiIFT27
HGNCiHGNC:18626 IFT27
HPAiHPA018418
MalaCardsiIFT27
MIMi615870 gene
615996 phenotype
neXtProtiNX_Q9BW83
OpenTargetsiENSG00000100360
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA38609
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0079 Eukaryota
ENOG4111IWZ LUCA
GeneTreeiENSGT00870000136549
HOVERGENiHBG105393
InParanoidiQ9BW83
KOiK07934
OMAiDSVEFFI
OrthoDBiEOG091G0WL1
PhylomeDBiQ9BW83
TreeFamiTF329292

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiIFT27 human
GenomeRNAii11020
PROiPR:Q9BW83
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100360 Expressed in 206 organ(s), highest expression level in right uterine tube
CleanExiHS_RABL4
ExpressionAtlasiQ9BW83 baseline and differential
GenevisibleiQ9BW83 HS

Family and domain databases

CDDicd04101 RabL4, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR034112 RabL4_euk
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFT27_HUMAN
AccessioniPrimary (citable) accession number: Q9BW83
Secondary accession number(s): O60897
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 160 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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