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UniProtKB - Q13099 (IFT88_HUMAN)

Protein

Intraflagellar transport protein 88 homolog

Gene

IFT88

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

Functioni

Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.By similarity

GO - Molecular functioni

  • kinesin binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport
SIGNORiQ13099

Names & Taxonomyi

Protein namesi
Recommended name:
Intraflagellar transport protein 88 homolog
Alternative name(s):
Recessive polycystic kidney disease protein Tg737 homolog
Tetratricopeptide repeat protein 10
Short name:
TPR repeat protein 10
Gene namesi
Name:IFT88
Synonyms:TG737, TTC10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000032742.17
HGNCiHGNC:20606 IFT88
MIMi600595 gene
neXtProtiNX_Q13099

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, Flagellum

Pathology & Biotechi

Organism-specific databases

DisGeNETi8100
OpenTargetsiENSG00000032742
PharmGKBiPA134991804

Polymorphism and mutation databases

BioMutaiIFT88
DMDMi206729873

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063911 – 833Intraflagellar transport protein 88 homologAdd BLAST833

Proteomic databases

EPDiQ13099
MaxQBiQ13099
PaxDbiQ13099
PeptideAtlasiQ13099
PRIDEiQ13099
ProteomicsDBi59151
59152 [Q13099-2]
59153 [Q13099-3]

PTM databases

iPTMnetiQ13099
PhosphoSitePlusiQ13099

Expressioni

Tissue specificityi

Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000032742 Expressed in 218 organ(s), highest expression level in testis
CleanExiHS_IFT88
ExpressionAtlasiQ13099 baseline and differential
GenevisibleiQ13099 HS

Interactioni

Subunit structurei

Component of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20, IFT22, HSPB11, IFT27, IFT46, IFT52, TRAF3IP1, IFT57, IFT74, IFT80, IFT81, IFT88 AND IFT172. Interacts with C2CD3. Interacts with ENTR1 (via N-terminus) (PubMed:27767179).By similarity1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi113771, 36 interactors
CORUMiQ13099
IntActiQ13099, 50 interactors
STRINGi9606.ENSP00000323580

Structurei

3D structure databases

ProteinModelPortaliQ13099
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati206 – 239TPR 1Add BLAST34
Repeati242 – 275TPR 2Add BLAST34
Repeati281 – 314TPR 3Add BLAST34
Repeati316 – 347TPR 4Add BLAST32
Repeati424 – 457TPR 5Add BLAST34
Repeati459 – 492TPR 6Add BLAST34
Repeati493 – 526TPR 7Add BLAST34
Repeati527 – 560TPR 8Add BLAST34
Repeati561 – 594TPR 9Add BLAST34
Repeati595 – 628TPR 10Add BLAST34
Repeati629 – 662TPR 11Add BLAST34
Repeati663 – 696TPR 12Add BLAST34

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG2003 Eukaryota
ENOG410XPPW LUCA
GeneTreeiENSGT00390000015473
HOGENOMiHOG000258203
HOVERGENiHBG059328
InParanoidiQ13099
KOiK16474
OMAiTKNKMFP
OrthoDBiEOG091G08VB
PhylomeDBiQ13099
TreeFamiTF313218

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR006597 Sel1-like
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13174 TPR_6, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00671 SEL1, 4 hits
SM00028 TPR, 11 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 9 hits
PS50293 TPR_REGION, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13099-1) [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
MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA 
        60         70         80         90        100
VRTSHGRRPP ITAKISSTAV TRPIATGYGS KTSLASSIGR PMTGAIQDGV 
       110        120        130        140        150
TRPMTAVRAA GFTKAALRGS AFDPLSQSRG PASPLEAKKK DSPEEKIKQL 
       160        170        180        190        200
EKEVNELVEE SCIANSCGDL KLALEKAKDA GRKERVLVRQ REQVTTPENI 
       210        220        230        240        250
NLDLTYSVLF NLASQYSVNE MYAEALNTYQ VIVKNKMFSN AGILKMNMGN 
       260        270        280        290        300
IYLKQRNYSK AIKFYRMALD QVPSVNKQMR IKIMQNIGVT FIQAGQYSDA 
       310        320        330        340        350
INSYEHIMSM APNLKAGYNL TICYFAIGDR EKMKKAFQKL ITVPLEIDED 
       360        370        380        390        400
KYISPSDDPH TNLVTEAIKN DHLRQMERER KAMAEKYIMT SAKLIAPVIE 
       410        420        430        440        450
TSFAAGYDWC VEVVKASQYV ELANDLEINK AVTYLRQKDY NQAVEILKVL 
       460        470        480        490        500
EKKDSRVKSA AATNLSALYY MGKDFAQASS YADIAVNSDR YNPAALTNKG 
       510        520        530        540        550
NTVFANGDYE KAAEFYKEAL RNDSSCTEAL YNIGLTYEKL NRLDEALDCF 
       560        570        580        590        600
LKLHAILRNS AEVLYQIANI YELMENPSQA IEWLMQVVSV IPTDPQVLSK 
       610        620        630        640        650
LGELYDREGD KSQAFQYYYE SYRYFPCNIE VIEWLGAYYI DTQFWEKAIQ 
       660        670        680        690        700
YFERASLIQP TQVKWQLMVA SCFRRSGNYQ KALDTYKDTH RKFPENVECL 
       710        720        730        740        750
RFLVRLCTDL GLKDAQEYAR KLKRLEKMKE IREQRIKSGR DGSGGSRGKR 
       760        770        780        790        800
EGSASGDSGQ NYSASSKGER LSARLRALPG TNEPYESSSN KEIDASYVDP 
       810        820        830 
LGPQIERPKT AAKKRIDEDD FADEELGDDL LPE
Length:833
Mass (Da):94,270
Last modified:September 23, 2008 - v2
Checksum:i383887C9D79AF0DA
GO
Isoform 2 (identifier: Q13099-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.

Show »
Length:824
Mass (Da):93,192
Checksum:i12E30169CFC5476B
GO
Isoform 3 (identifier: Q13099-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-79: Missing.

Note: No experimental confirmation available.
Show »
Length:814
Mass (Da):92,381
Checksum:iB5364A6022DC66F3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H6C2F5H6C2_HUMAN
Intraflagellar transport protein 88...
IFT88
368Annotation score:
F6SRW8F6SRW8_HUMAN
Intraflagellar transport protein 88...
IFT88
50Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti210F → S in AAA86720 (PubMed:7633404).Curated1
Sequence conflicti335K → E in AAH30776 (PubMed:15489334).Curated1
Sequence conflicti388I → V in AAH30776 (PubMed:15489334).Curated1
Sequence conflicti389M → T in AAA86720 (PubMed:7633404).Curated1
Sequence conflicti407Y → C in AAA86720 (PubMed:7633404).Curated1
Sequence conflicti608E → G in AAH30776 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046464383M → I1 PublicationCorresponds to variant dbSNP:rs2442455EnsemblClinVar.1
Natural variantiVAR_046465455S → N1 PublicationCorresponds to variant dbSNP:rs9509307EnsemblClinVar.1
Natural variantiVAR_046466671S → G. Corresponds to variant dbSNP:rs9552254Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0354291 – 9Missing in isoform 2. 1 Publication9
Alternative sequenceiVSP_04062061 – 79Missing in isoform 3. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20362 mRNA Translation: AAA86720.1
AK300769 mRNA Translation: BAG62434.1
AL161772 Genomic DNA No translation available.
AL590096 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08272.1
BC030776 mRNA Translation: AAH30776.2
CCDSiCCDS31944.1 [Q13099-1]
CCDS31945.1 [Q13099-2]
RefSeqiNP_001305420.1, NM_001318491.1
NP_001305422.1, NM_001318493.1 [Q13099-1]
NP_783195.2, NM_175605.4 [Q13099-1]
XP_005266610.1, XM_005266553.2
XP_011533543.1, XM_011535241.2
XP_016876247.1, XM_017020758.1 [Q13099-3]
UniGeneiHs.187376

Genome annotation databases

EnsembliENST00000319980; ENSP00000323580; ENSG00000032742 [Q13099-1]
ENST00000351808; ENSP00000261632; ENSG00000032742 [Q13099-2]
GeneIDi8100
KEGGihsa:8100
UCSCiuc001unh.4 human [Q13099-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U20362 mRNA Translation: AAA86720.1
AK300769 mRNA Translation: BAG62434.1
AL161772 Genomic DNA No translation available.
AL590096 Genomic DNA No translation available.
CH471075 Genomic DNA Translation: EAX08272.1
BC030776 mRNA Translation: AAH30776.2
CCDSiCCDS31944.1 [Q13099-1]
CCDS31945.1 [Q13099-2]
RefSeqiNP_001305420.1, NM_001318491.1
NP_001305422.1, NM_001318493.1 [Q13099-1]
NP_783195.2, NM_175605.4 [Q13099-1]
XP_005266610.1, XM_005266553.2
XP_011533543.1, XM_011535241.2
XP_016876247.1, XM_017020758.1 [Q13099-3]
UniGeneiHs.187376

3D structure databases

ProteinModelPortaliQ13099
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113771, 36 interactors
CORUMiQ13099
IntActiQ13099, 50 interactors
STRINGi9606.ENSP00000323580

PTM databases

iPTMnetiQ13099
PhosphoSitePlusiQ13099

Polymorphism and mutation databases

BioMutaiIFT88
DMDMi206729873

Proteomic databases

EPDiQ13099
MaxQBiQ13099
PaxDbiQ13099
PeptideAtlasiQ13099
PRIDEiQ13099
ProteomicsDBi59151
59152 [Q13099-2]
59153 [Q13099-3]

Protocols and materials databases

DNASUi8100
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319980; ENSP00000323580; ENSG00000032742 [Q13099-1]
ENST00000351808; ENSP00000261632; ENSG00000032742 [Q13099-2]
GeneIDi8100
KEGGihsa:8100
UCSCiuc001unh.4 human [Q13099-1]

Organism-specific databases

CTDi8100
DisGeNETi8100
EuPathDBiHostDB:ENSG00000032742.17
GeneCardsiIFT88
HGNCiHGNC:20606 IFT88
MIMi600595 gene
neXtProtiNX_Q13099
OpenTargetsiENSG00000032742
PharmGKBiPA134991804
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2003 Eukaryota
ENOG410XPPW LUCA
GeneTreeiENSGT00390000015473
HOGENOMiHOG000258203
HOVERGENiHBG059328
InParanoidiQ13099
KOiK16474
OMAiTKNKMFP
OrthoDBiEOG091G08VB
PhylomeDBiQ13099
TreeFamiTF313218

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport
SIGNORiQ13099

Miscellaneous databases

ChiTaRSiIFT88 human
GeneWikiiIFT88
GenomeRNAii8100
PROiPR:Q13099
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000032742 Expressed in 218 organ(s), highest expression level in testis
CleanExiHS_IFT88
ExpressionAtlasiQ13099 baseline and differential
GenevisibleiQ13099 HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR006597 Sel1-like
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF13174 TPR_6, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00671 SEL1, 4 hits
SM00028 TPR, 11 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 9 hits
PS50293 TPR_REGION, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiIFT88_HUMAN
AccessioniPrimary (citable) accession number: Q13099
Secondary accession number(s): A2A491
, B4DUS2, Q5SZJ6, Q8N719
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: September 23, 2008
Last modified: November 7, 2018
This is version 171 of the entry and version 2 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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