Q13099 (IFT88_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 115.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 833 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Involved in primary cilium biogenesis By similarity. |
| Subunit structure | Component of IFT complex B composed of IFT88, IFT57, TRAF3IP1, IFT52, IFT27, HSPB11 and IFT20. Interacts with IFT46, IFT57 and IFT172 By similarity. |
| Subcellular location | Cytoplasm › cytoskeleton › centrosome › centriole By similarity. Cytoplasm › cytoskeleton › cilium basal body By similarity. |
| Tissue specificity | Expressed in the heart, brain, liver, lung, kidney, skeletal muscle and pancreas. Ref.1 |
| Sequence similarities | Contains 12 TPR repeats. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q13099-1) 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. | ||||||
| Isoform 2 (identifier: Q13099-2) The sequence of this isoform differs from the canonical sequence as follows: 1-9: Missing. | ||||||
| Isoform 3 (identifier: Q13099-3) The sequence of this isoform differs from the canonical sequence as follows: 61-79: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 833 | 833 | Intraflagellar transport protein 88 homolog | PRO_0000106391 | |||||
Regions | |||||||||
| Repeat | 206 – 239 | 34 | TPR 1 | ||||||
| Repeat | 242 – 275 | 34 | TPR 2 | ||||||
| Repeat | 281 – 314 | 34 | TPR 3 | ||||||
| Repeat | 316 – 347 | 32 | TPR 4 | ||||||
| Repeat | 424 – 457 | 34 | TPR 5 | ||||||
| Repeat | 459 – 492 | 34 | TPR 6 | ||||||
| Repeat | 493 – 526 | 34 | TPR 7 | ||||||
| Repeat | 527 – 560 | 34 | TPR 8 | ||||||
| Repeat | 561 – 594 | 34 | TPR 9 | ||||||
| Repeat | 595 – 628 | 34 | TPR 10 | ||||||
| Repeat | 629 – 662 | 34 | TPR 11 | ||||||
| Repeat | 663 – 696 | 34 | TPR 12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 9 | 9 | Missing in isoform 2. | VSP_035429 | |||||
| Alternative sequence | 61 – 79 | 19 | Missing in isoform 3. | VSP_040620 | |||||
| Natural variant | 383 | 1 | M → I. Ref.5 Corresponds to variant rs2442455 [ dbSNP | Ensembl ]. | VAR_046464 | |||||
| Natural variant | 455 | 1 | S → N. Ref.1 Corresponds to variant rs9509307 [ dbSNP | Ensembl ]. | VAR_046465 | |||||
| Natural variant | 671 | 1 | S → G. Corresponds to variant rs9552254 [ dbSNP | Ensembl ]. | VAR_046466 | |||||
Experimental info | |||||||||
| Sequence conflict | 210 | 1 | F → S in AAA86720. Ref.1 | ||||||
| Sequence conflict | 335 | 1 | K → E in AAH30776. Ref.5 | ||||||
| Sequence conflict | 388 | 1 | I → V in AAH30776. Ref.5 | ||||||
| Sequence conflict | 389 | 1 | M → T in AAA86720. Ref.1 | ||||||
| Sequence conflict | 407 | 1 | Y → C in AAA86720. Ref.1 | ||||||
| Sequence conflict | 608 | 1 | E → G in AAH30776. Ref.5 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U20362 mRNA. Translation: AAA86720.1. AK300769 mRNA. Translation: BAG62434.1. AL161772, AL590096 Genomic DNA. Translation: CAM13405.1. AL590096, AL161772 Genomic DNA. Translation: CAM20430.1. AL161772, AL590096 Genomic DNA. Translation: CAH70874.2. AL590096, AL161772 Genomic DNA. Translation: CAI14390.2. CH471075 Genomic DNA. Translation: EAX08272.1. BC030776 mRNA. Translation: AAH30776.2. |
| IPI | IPI00402297. IPI00646878. IPI00973733. |
| RefSeq | NP_006522.2. NM_006531.3. NP_783195.2. NM_175605.3. |
| UniGene | Hs.187376. |
3D structure databases | |
| ProteinModelPortal | Q13099. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13099. 1 interaction. |
| STRING | 9606.ENSP00000323580. |
PTM databases | |
| PhosphoSite | Q13099. |
Polymorphism databases | |
| DMDM | 206729873. |
Proteomic databases | |
| PaxDb | Q13099. |
| PRIDE | Q13099. |
Protocols and materials databases | |
| DNASU | 8100. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000319980; ENSP00000323580; ENSG00000032742. ENST00000351808; ENSP00000261632; ENSG00000032742. |
| GeneID | 8100. |
| KEGG | hsa:8100. |
| UCSC | uc001unh.3. human. |
Organism-specific databases | |
| CTD | 8100. |
| GeneCards | GC13P021141. |
| HGNC | HGNC:20606. IFT88. |
| HPA | HPA040731. |
| MIM | 600595. gene. |
| neXtProt | NX_Q13099. |
| PharmGKB | PA134991804. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0457. |
| HOGENOM | HOG000258203. |
| HOVERGEN | HBG059328. |
| InParanoid | Q13099. |
| KO | K16474. |
| OMA | CYRRSGN. |
| OrthoDB | EOG45DWNT. |
Gene expression databases | |
| ArrayExpress | Q13099. |
| Bgee | Q13099. |
| CleanEx | HS_IFT88. |
| Genevestigator | Q13099. |
| GermOnline | ENSG00000032742. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 2 hits. |
| InterPro | IPR006597. Sel1-like. IPR001440. TPR-1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR013105. TPR_2. IPR019734. TPR_repeat. [Graphical view] |
| Pfam | PF00515. TPR_1. 4 hits. PF07719. TPR_2. 1 hit. PF13174. TPR_6. 1 hit. PF13181. TPR_8. 1 hit. [Graphical view] |
| SMART | SM00671. SEL1. 4 hits. SM00028. TPR. 7 hits. [Graphical view] |
| PROSITE | PS50005. TPR. 9 hits. PS50293. TPR_REGION. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 8100. |
| NextBio | 30744. |
| SOURCE | Search... |
Entry information
| Entry name | IFT88_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13099 Secondary accession number(s): A2A491 Q8N719 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 13 Human chromosome 13: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
