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Protein

Intraflagellar transport protein 46 homolog

Gene

IFT46

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:26146. IFT46.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165543409.

Polymorphism and mutation databases

BioMutaiIFT46.
DMDMi74734313.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 304304Intraflagellar transport protein 46 homologPRO_0000085516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei286 – 2861PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NQC8.
MaxQBiQ9NQC8.
PRIDEiQ9NQC8.

PTM databases

iPTMnetiQ9NQC8.
PhosphoSiteiQ9NQC8.

Expressioni

Gene expression databases

BgeeiQ9NQC8.
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.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121240. 11 interactions.
IntActiQ9NQC8. 2 interactions.
MINTiMINT-5006606.

Structurei

3D structure databases

ProteinModelPortaliQ9NQC8.
SMRiQ9NQC8. Positions 175-275.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi31 – 5525Asp/Glu-rich (highly acidic)Add
BLAST

Sequence similaritiesi

Belongs to the IFT46 family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000005544.
HOGENOMiHOG000259047.
HOVERGENiHBG074087.
InParanoidiQ9NQC8.
KOiK19682.
OMAiSQAGDME.
PhylomeDBiQ9NQC8.
TreeFamiTF314221.

Family and domain databases

InterProiIPR022088. Intraflagellar_transp_cmplxB.
[Graphical view]
PANTHERiPTHR13376. PTHR13376. 1 hit.
PfamiPF12317. IFT46_B_C. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141N → S in BAB15146 (PubMed:14702039).Curated
Sequence conflicti19 – 191K → E in BAB15146 (PubMed:14702039).Curated
Sequence conflicti37 – 371D → G in BAF82210 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91C → Y.1 Publication
Corresponds to variant rs11552421 [ dbSNP | Ensembl ].
VAR_057533

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei15 – 151K → KVLREGMPQAPGHRGKDMDP VPPAPASLKCHQTPSHVLER VGWYRESQKHRK in isoform 2. 1 PublicationVSP_039859

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_011542906.1. [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

Cross-referencesi

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_011542906.1. [Q9NQC8-1]
UniGeneiHs.533738.

3D structure databases

ProteinModelPortaliQ9NQC8.
SMRiQ9NQC8. Positions 175-275.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121240. 11 interactions.
IntActiQ9NQC8. 2 interactions.
MINTiMINT-5006606.

PTM databases

iPTMnetiQ9NQC8.
PhosphoSiteiQ9NQC8.

Polymorphism and mutation databases

BioMutaiIFT46.
DMDMi74734313.

Proteomic databases

EPDiQ9NQC8.
MaxQBiQ9NQC8.
PRIDEiQ9NQC8.

Protocols and materials databases

DNASUi56912.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi56912.
GeneCardsiIFT46.
HGNCiHGNC:26146. IFT46.
HPAiHPA037909.
HPA057550.
neXtProtiNX_Q9NQC8.
PharmGKBiPA165543409.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000005544.
HOGENOMiHOG000259047.
HOVERGENiHBG074087.
InParanoidiQ9NQC8.
KOiK19682.
OMAiSQAGDME.
PhylomeDBiQ9NQC8.
TreeFamiTF314221.

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.

Miscellaneous databases

ChiTaRSiIFT46. human.
GeneWikiiC11orf60.
GenomeRNAii56912.
PROiQ9NQC8.

Gene expression databases

BgeeiQ9NQC8.
CleanExiHS_C11orf2.
HS_C11orf60.
ExpressionAtlasiQ9NQC8. baseline and differential.
GenevisibleiQ9NQC8. HS.

Family and domain databases

InterProiIPR022088. Intraflagellar_transp_cmplxB.
[Graphical view]
PANTHERiPTHR13376. PTHR13376. 1 hit.
PfamiPF12317. IFT46_B_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Uterus.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT TYR-9.
    Tissue: Cerebellum and Hepatoma.
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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: Bone marrow, Lung and Uterus.
  7. Cited for: INTERACTION WITH ARL13B.

Entry informationi

Entry nameiIFT46_HUMAN
AccessioniPrimary (citable) accession number: Q9NQC8
Secondary accession number(s): A8K0F6, Q9H6V5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2000
Last modified: June 8, 2016
This is version 108 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. SIMILARITY comments
    Index of protein domains and families
  5. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.