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{
"metadata": {
"accession": "IPR056836",
"entry_id": null,
"type": "domain",
"go_terms": null,
"source_database": "interpro",
"member_databases": {
"pfam": {
"PF25068": "Tetratricopeptide repeat protein 21 forth ARM domain"
}
},
"integrated": null,
"hierarchy": {
"accession": "IPR056836",
"name": "Tetratricopeptide repeat protein 21A/21B, fourth ARM domain",
"type": "Domain",
"children": []
},
"name": {
"name": "Tetratricopeptide repeat protein 21A/21B, fourth ARM domain",
"short": "ARM_TT21_4th"
},
"description": [
{
"text": "<p>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.</p>",
"llm": false,
"checked": false,
"updated": false
},
{
"text": "<p>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]].</p>",
"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
}
}
