This entry represents the fourth ARM-repeats domain found around the middle of Tetratricopeptide repeat protein 21A (TTC21A) and 21B (TTC21B) from human and its homologues.
","llm":false,"checked":false,"updated":false},{"text":"TTC21A/B are intraflagellar transport (IFT)-associated proteins required for spermatogenesis. TTC21A is involved in sperm flagellar formation and intraflagellar transport [[cite:PUB00159879]]. TTC21B is a component of the IFT complex A (IFT-A), which is required for retrograde ciliary transport. Intraflagellar transport (IFT) is required for cilium assembly and trafficking within cilia [[cite:PUB00089704]]. Several diseases results from mutations in the TTC21B gene including nephronophthisis 12, short-rib thoracic dysplasia 4 with or without polydactyly, and Joubert syndrome 11 [[cite:PUB00090860]].
","llm":false,"checked":false,"updated":false}],"wikipedia":null,"literature":{"PUB00089704":{"PMID":20889716,"ISBN":null,"volume":"24","issue":"19","year":2010,"title":"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia.","URL":null,"raw_pages":"2180-93","medline_journal":"Genes Dev","ISO_journal":"Genes Dev.","authors":["Mukhopadhyay S","Wen X","Chih B","Nelson CD","Lane WS","Scales SJ","Jackson PK."],"DOI_URL":"https://doi.org/10.1101/gad.1966210"},"PUB00090860":{"PMID":21258341,"ISBN":null,"volume":"43","issue":"3","year":2011,"title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.","URL":null,"raw_pages":"189-96","medline_journal":"Nat Genet","ISO_journal":"Nat. Genet.","authors":["Davis EE","Zhang Q","Liu Q","Diplas BH","Davey LM","Hartley J","Stoetzel C","Szymanska K","Ramaswami G","Logan CV","Muzny DM","Young AC","Wheeler DA","Cruz P","Morgan M","Lewis LR","Cherukuri P","Maskeri B","Hansen NF","Mullikin JC","Blakesley RW","Bouffard GG; NISC Comparative Sequencing Program","Gyapay G","Rieger S","Tonshoff B","Kern I","Soliman NA","Neuhaus TJ","Swoboda KJ","Kayserili H","Gallagher TE","Lewis RA","Bergmann C","Otto EA","Saunier S","Scambler PJ","Beales PL","Gleeson JG","Maher ER","Attie-Bitach T","Dollfus H","Johnson CA","Green ED","Gibbs RA","Hildebrandt F","Pierce EA","Katsanis N."],"DOI_URL":"https://doi.org/10.1038/ng.756"},"PUB00159879":{"PMID":30929735,"ISBN":null,"volume":"104","issue":"4","year":2019,"title":"Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice.","URL":null,"raw_pages":"738-748","medline_journal":"Am J Hum Genet","ISO_journal":"Am J Hum Genet","authors":["Liu W","He X","Yang S","Zouari R","Wang J","Wu H","Kherraf ZE","Liu C","Coutton C","Zhao R","Tang D","Tang S","Lv M","Fang Y","Li W","Li H","Zhao J","Wang X","Zhao S","Zhang J","Arnoult C","Jin L","Zhang Z","Ray PF","Cao Y","Zhang F."],"DOI_URL":"https://doi.org/10.1016/j.ajhg.2019.02.020"}},"set_info":null,"overlaps_with":[{"accession":"IPR011990","name":"Tetratricopeptide-like helical domain superfamily","type":"homologous_superfamily"}],"counters":{"subfamilies":0,"domain_architectures":307,"interactions":0,"matches":3220,"pathways":6,"proteins":3189,"proteomes":1246,"sets":0,"structural_models":{"alphafold":1478,"bfvd":0},"structures":10,"taxa":4610},"entry_annotations":{"alignment:seed":74,"alignment:full":2117},"cross_references":{},"is_llm":false,"is_reviewed_llm":false,"is_updated_llm":false,"representative_structure":null}}