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Q9BW83

- IFT27_HUMAN

UniProt

Q9BW83 - IFT27_HUMAN

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Protein

Intraflagellar transport protein 27 homolog

Gene

IFT27

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Small GTPase-like component of the intraflagellar transport (IFT) complex B. Forms a subcomplex within the IFT complex B with IFT25 (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi12 – 198GTPBy similarity
Nucleotide bindingi64 – 685GTPBy similarity
Nucleotide bindingi123 – 1264GTPBy similarity

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW

GO - Biological processi

  1. small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Ligandi

GTP-binding, Nucleotide-binding

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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:18626. IFT27.

Subcellular locationi

GO - Cellular componenti

  1. centrosome Source: Ensembl
  2. intraciliary transport particle B Source: BHF-UCL
  3. motile cilium Source: BHF-UCL
  4. sperm midpiece Source: Ensembl
  5. sperm principal piece Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 19 (BBS19) [MIM:209900]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001C → Y in BBS19; loss-of-function mutation; results in significantly reduced protein levels. 1 Publication
VAR_071804

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA38609.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 186186Intraflagellar transport protein 27 homologPRO_0000082715Add
BLAST

Proteomic databases

MaxQBiQ9BW83.
PaxDbiQ9BW83.
PRIDEiQ9BW83.

PTM databases

PhosphoSiteiQ9BW83.

Expressioni

Gene expression databases

BgeeiQ9BW83.
CleanExiHS_RABL4.
ExpressionAtlasiQ9BW83. baseline and differential.
GenevestigatoriQ9BW83.

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. Interacts with IFT25; the interaction is direct. Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (By similarity).By similarity

Protein-protein interaction databases

BioGridi116210. 3 interactions.
IntActiQ9BW83. 1 interaction.
MINTiMINT-1456924.
STRINGi9606.ENSP00000343593.

Structurei

3D structure databases

ProteinModelPortaliQ9BW83.
SMRiQ9BW83. Positions 7-168.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiCOG1100.
GeneTreeiENSGT00720000108869.
HOVERGENiHBG105393.
InParanoidiQ9BW83.
KOiK07934.
OMAiNGHQICI.
OrthoDBiEOG75J0PC.
PhylomeDBiQ9BW83.
TreeFamiTF329292.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001C → Y in BBS19; loss-of-function mutation; results in significantly reduced protein levels. 1 Publication
VAR_071804

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei12 – 121Missing in isoform 2. 1 PublicationVSP_021019

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL022729 mRNA. Translation: CAA18787.1.
CR456558 mRNA. Translation: CAG30444.1.
BT006815 mRNA. Translation: AAP35461.1.
Z80897 Genomic DNA. Translation: CAB62968.1.
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_006724106.1. [Q9BW83-1]
UniGeneiHs.415172.

Genome annotation databases

EnsembliENST00000340630; ENSP00000343593; ENSG00000100360. [Q9BW83-2]
ENST00000433985; ENSP00000393541; ENSG00000100360. [Q9BW83-1]
GeneIDi11020.
KEGGihsa:11020.
UCSCiuc003apu.3. human. [Q9BW83-2]
uc003apv.3. human. [Q9BW83-1]

Polymorphism databases

DMDMi20178058.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL022729 mRNA. Translation: CAA18787.1 .
CR456558 mRNA. Translation: CAG30444.1 .
BT006815 mRNA. Translation: AAP35461.1 .
Z80897 Genomic DNA. Translation: CAB62968.1 .
BC000566 mRNA. Translation: AAH00566.1 .
CCDSi CCDS13932.1. [Q9BW83-2 ]
CCDS54523.1. [Q9BW83-1 ]
RefSeqi NP_001171172.1. NM_001177701.2. [Q9BW83-1 ]
NP_006851.1. NM_006860.4. [Q9BW83-2 ]
XP_006724169.1. XM_006724106.1. [Q9BW83-1 ]
UniGenei Hs.415172.

3D structure databases

ProteinModelPortali Q9BW83.
SMRi Q9BW83. Positions 7-168.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116210. 3 interactions.
IntActi Q9BW83. 1 interaction.
MINTi MINT-1456924.
STRINGi 9606.ENSP00000343593.

PTM databases

PhosphoSitei Q9BW83.

Polymorphism databases

DMDMi 20178058.

Proteomic databases

MaxQBi Q9BW83.
PaxDbi Q9BW83.
PRIDEi Q9BW83.

Protocols and materials databases

DNASUi 11020.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340630 ; ENSP00000343593 ; ENSG00000100360 . [Q9BW83-2 ]
ENST00000433985 ; ENSP00000393541 ; ENSG00000100360 . [Q9BW83-1 ]
GeneIDi 11020.
KEGGi hsa:11020.
UCSCi uc003apu.3. human. [Q9BW83-2 ]
uc003apv.3. human. [Q9BW83-1 ]

Organism-specific databases

CTDi 11020.
GeneCardsi GC22M037154.
HGNCi HGNC:18626. IFT27.
HPAi HPA018418.
MIMi 209900. phenotype.
615870. gene.
neXtProti NX_Q9BW83.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA38609.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
GeneTreei ENSGT00720000108869.
HOVERGENi HBG105393.
InParanoidi Q9BW83.
KOi K07934.
OMAi NGHQICI.
OrthoDBi EOG75J0PC.
PhylomeDBi Q9BW83.
TreeFami TF329292.

Miscellaneous databases

ChiTaRSi IFT27. human.
GenomeRNAii 11020.
NextBioi 41870.
PROi Q9BW83.
SOURCEi Search...

Gene expression databases

Bgeei Q9BW83.
CleanExi HS_RABL4.
ExpressionAtlasi Q9BW83. baseline and differential.
Genevestigatori Q9BW83.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view ]
Pfami PF00071. Ras. 1 hit.
[Graphical view ]
PRINTSi PR00449. RASTRNSFRMNG.
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00231. small_GTP. 1 hit.
PROSITEi PS51419. RAB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
    Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
    Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome."
    Aldahmesh M.A., Li Y., Alhashem A., Anazi S., Alkuraya H., Hashem M., Awaji A.A., Sogaty S., Alkharashi A., Alzahrani S., Al Hazzaa S.A., Xiong Y., Kong S., Sun Z., Alkuraya F.S.
    Hum. Mol. Genet. 23:3307-3315(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN BBS19, VARIANT BBS19 TYR-100, CHARACTERIZATION OF VARIANT BBS19 TYR-100.

Entry informationi

Entry nameiIFT27_HUMAN
AccessioniPrimary (citable) accession number: Q9BW83
Secondary accession number(s): O60897
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: October 29, 2014
This is version 124 of the entry and version 1 of the sequence. [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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3