Reviewed,
UniProtKB/Swiss-Prot Q13099 (IFT88_HUMAN)
Last modified
June 16, 2009.
Version 75.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Intraflagellar transport protein 88 homolog Alternative name(s): Tetratricopeptide repeat protein 10 Short name=TPR repeat protein 10 Recessive polycystic kidney disease protein Tg737 homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| 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. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Interacts with IFT57 and IFT172 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
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat TPR repeat |
| Gene Ontology (GO) | |
| Biological process | excretion Ref.1 Traceable author statement. Source: ProtInc |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 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. |
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 | |||||
| Natural variant | 383 | 1 | M → I: dbSNP rs2442455. Ref.3 | VAR_046464 | |||||
| Natural variant | 455 | 1 | S → N: dbSNP rs9509307. Ref.1 | VAR_046465 | |||||
| Natural variant | 671 | 1 | S → G: dbSNP rs9552254. | VAR_046466 | |||||
Experimental info | |||||||||
| Sequence conflict | 210 | 1 | F → S in AAA86720. Ref.1 | ||||||
| Sequence conflict | 335 | 1 | K → E in AAH30776. Ref.3 | ||||||
| Sequence conflict | 388 | 1 | I → V in AAH30776. Ref.3 | ||||||
| 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.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene." Schrick J.J., Onuchic L.F., Reeders S.T., Korenberg J., Chen X.-N., Moyer J.H., Wilkinson J.E., Woychik R.P. Hum. Mol. Genet. 4:559-567(1995) [PubMed: 7633404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ASN-455. Tissue: Liver. |
| [2] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-383. Tissue: Testis. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U20362 mRNA. Translation: AAA86720.1. 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. BC030776 mRNA. Translation: AAH30776.2. | |
| IPI | IPI00402297. IPI00646878. |
| RefSeq | NP_783195.2. |
| UniGene | Hs.187376 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q13099. 2 interactions. |
PTM databases | |
| PhosphoSite | Q13099. |
Genome annotation databases | |
| Ensembl | ENSG00000032742. Homo sapiens. [Contig view] |
| GeneID | 8100. |
Organism-specific databases | |
| GeneCards | GC13P020039. |
| HGNC | HGNC:20606. IFT88. |
| MIM | 600595. gene. |
| PharmGKB | PA134991804. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q13099. |
| OMA | Q13099. KAFQKLI. |
Gene expression databases | |
| ArrayExpress | Q13099. |
| Bgee | Q13099. |
| CleanEx | HS_IFT88. |
| GermOnline | ENSG00000032742. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006597. Sel1-like. IPR001440. TPR-1. IPR011990. TPR-like_helical. IPR013026. TPR_region. IPR019734. TPR_repeat. [Graphical view] |
| Gene3D | G3DSA:1.25.40.10. TPR-like_helical. 2 hits. |
| Pfam | PF00515. TPR_1. 6 hits. [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 Resources | |
| NextBio | 30744. |
| SOURCE | Search... |
Entry information
| Entry name | IFT88_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13099 Secondary accession number(s): A2A491, Q5SZJ6, Q8N719 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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


