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Protein

Intraflagellar transport protein 46 homolog

Gene

IFT46

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

Functioni

Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis (By similarity).By similarity

Caution

Has been termed C11orf2, but is not the official C11orf2 as defined by HGNC.1 Publication

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 46 homolog
Gene namesi
Name:IFT46
Synonyms:C11orf2, C11orf60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000118096.7
HGNCiHGNC:26146 IFT46
neXtProtiNX_Q9NQC8

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, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000118096
PharmGKBiPA165543409

Polymorphism and mutation databases

BioMutaiIFT46
DMDMi74734313

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000855161 – 304Intraflagellar transport protein 46 homologAdd BLAST304

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei286PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NQC8
PeptideAtlasiQ9NQC8
PRIDEiQ9NQC8
ProteomicsDBi82141
82142 [Q9NQC8-2]

PTM databases

iPTMnetiQ9NQC8
PhosphoSitePlusiQ9NQC8

Expressioni

Gene expression databases

BgeeiENSG00000118096
CleanExiHS_C11orf2
HS_C11orf60
ExpressionAtlasiQ9NQC8 baseline and differential
GenevisibleiQ9NQC8 HS

Organism-specific databases

HPAiHPA037909
HPA057550

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25/HSPB11, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT57, IFT88 and DAW1. Interacts with TTC26/IFT56 (By similarity). Interacts with ARL13B. Interacts with TTC25 (PubMed:25860617).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121240, 26 interactors
CORUMiQ9NQC8
IntActiQ9NQC8, 17 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9NQC8
SMRiQ9NQC8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi31 – 55Asp/Glu-rich (highly acidic)Add BLAST25

Sequence similaritiesi

Belongs to the IFT46 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000005544
HOGENOMiHOG000259047
HOVERGENiHBG074087
InParanoidiQ9NQC8
KOiK19682
OMAiHMKVKSL
PhylomeDBiQ9NQC8
TreeFamiTF314221

Family and domain databases

InterProiView protein in InterPro
IPR022088 Intraflagellar_transp_cmplxB
PANTHERiPTHR13376 PTHR13376, 1 hit
PfamiView protein in Pfam
PF12317 IFT46_B_C, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NQC8-1) [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
MADNSSDECE EENNKEKKKT SQLTPQRGFS ENEDDDDDDD DSSETDSDSD
60 70 80 90 100
DDDEEHGAPL EGAYDPADYE HLPVSAEIKE LFQYISRYTP QLIDLDHKLK
110 120 130 140 150
PFIPDFIPAV GDIDAFLKVP RPDGKPDNLG LLVLDEPSTK QSDPTVLSLW
160 170 180 190 200
LTENSKQHNI TQHMKVKSLE DAEKNPKAID TWIESISELH RSKPPATVHY
210 220 230 240 250
TRPMPDIDTL MQEWSPEFEE LLGKVSLPTA EIDCSLAEYI DMICAILDIP
260 270 280 290 300
VYKSRIQSLH LLFSLYSEFK NSQHFKALAE GKKAFTPSSN STSQAGDMET

LTFS
Length:304
Mass (Da):34,286
Last modified:October 1, 2000 - v1
Checksum:i5685A790EDAA3952
GO
Isoform 2 (identifier: Q9NQC8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     15-15: K → KVLREGMPQAPGHRGKDMDPVPPAPASLKCHQTPSHVLERVGWYRESQKHRK

Note: No experimental confirmation available.
Show »
Length:355
Mass (Da):40,064
Checksum:iC21E268DAC2EEA6A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14N → S in BAB15146 (PubMed:14702039).Curated1
Sequence conflicti19K → E in BAB15146 (PubMed:14702039).Curated1
Sequence conflicti37D → G in BAF82210 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0575339C → Y1 PublicationCorresponds to variant dbSNP:rs11552421Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03985915K → KVLREGMPQAPGHRGKDMDP VPPAPASLKCHQTPSHVLER VGWYRESQKHRK in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ249980 mRNA Translation: CAB96537.1
AL136934 mRNA Translation: CAB66868.1
AK025480 mRNA Translation: BAB15146.1
AK289521 mRNA Translation: BAF82210.1
CR457344 mRNA Translation: CAG33625.1
AP000941 Genomic DNA No translation available.
BC011647 mRNA Translation: AAH11647.1
BC012802 mRNA Translation: AAH12802.1
BC022856 mRNA Translation: AAH22856.1
CCDSiCCDS53718.1 [Q9NQC8-1]
CCDS8399.1 [Q9NQC8-2]
RefSeqiNP_001162089.1, NM_001168618.1 [Q9NQC8-1]
NP_064538.3, NM_020153.3 [Q9NQC8-2]
XP_011541208.1, XM_011542906.2 [Q9NQC8-1]
XP_016873507.1, XM_017018018.1 [Q9NQC8-1]
UniGeneiHs.533738

Genome annotation databases

EnsembliENST00000264020; ENSP00000264020; ENSG00000118096 [Q9NQC8-2]
ENST00000264021; ENSP00000264021; ENSG00000118096 [Q9NQC8-1]
GeneIDi56912
KEGGihsa:56912
UCSCiuc001pto.3 human [Q9NQC8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiIFT46_HUMAN
AccessioniPrimary (citable) accession number: Q9NQC8
Secondary accession number(s): A8K0F6, Q9H6V5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 125 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

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