1506:
541:(2p13.2) on the plus (Watson) strand. It is 224,161 bases in length organised into 23 exons. The encoded protein has 4,167 amino acids and molecular weight of 460,937 Da. Three isoforms are known. The protein itself has a large tandem-repeat domain comprising 34 imperfect repetitions of 47 amino acids. Mutations associated with disease are usually found in exons 8, 10 and 16.
705:
771:"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro"
395:
658:
Multiple mutations are known: the current (2007) total is 79. These include both nonsense and frameshift mutations. Most of the mutations have been found in
912:
Hearn T, Renforth GL, Spalluto G, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI (2002).
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635:. Cilia were stunted and treated cells lacked the ability to increase calcium influx in response to mechanical stimuli.
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Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997).
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Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R (January 2007).
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812:"A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence"
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918:, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome"
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Joy T, Cao H, Black G, Malik R, Charlton-Menys V, Hegele RA, Durrington PN (2007).
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863:"Alstrom syndrome (OMIM 203800): a case report and literature review"
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Collin GB, Marshall JD, Cardon LR, Nishina PM (February 1997).
1232:
730:"Homozygosity mapping of Alström syndrome to chromosome 2p"
1521:
544:
The gene is expressed in fetal tissues including the
1387:
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Alms1, centrosome and basal body associated protein
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961:GeneReviews/NCBI/NIH/UW entry on Alstrom syndrome
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973:at the U.S. National Library of Medicine
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647:gene have been found to be causative for
537:The gene is located on the short arm of
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7:
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692:as the single gene responsible for
651:with a total of 81 disease-causing
522:which in humans is encoded by the
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14:
867:Orphanet Journal of Rare Diseases
1504:
966:OMIM entries on Alström syndrome
596:, cell projections and cilium
588:. The protein is found in the
1:
1520:. You can help Knowledge by
829:10.1371/journal.pgen.0030008
1572:Genes on human chromosome 2
1593:
1499:
377:Alstrom syndrome protein 1
22:Alstrom syndrome protein 1
1482:
684:University of Southampton
629:medullary collecting duct
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1419:intraflagellar transport
975:Medical Subject Headings
631:cells caused defective
880:10.1186/1750-1172-2-49
788:10.1093/dnares/4.2.141
625:short interfering RNA
604:it localizes to both
971:ALMS1+protein,+human
747:10.1093/hmg/6.2.213
639:Disease association
1577:Biochemistry stubs
672:Jackson Laboratory
512:Alstrom syndrome 1
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1305:outer dynein arms
643:Mutations in the
533:Molecular biology
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686:, UK identified
649:Alström syndrome
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734:Hum. Mol. Genet
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627:in mouse inner
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781:(2): 141–150.
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914:"Mutation of
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1522:expanding it
1514:biochemistry
1511:
1496:
1484:
1156:
1020:Nephrocystin
928:(1): 79–83.
925:
921:
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907:
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764:
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633:ciliogenesis
620:
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539:chromosome 2
536:
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468:
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127:
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90:
85:
48:External IDs
1567:Human genes
490:Swiss-model
382:Identifiers
64:- orthologs
31:Identifiers
1561:Categories
1487:ciliopathy
1485:see also:
1072:Basal body
816:PLOS Genet
712:References
676:Bar Harbor
598:basal body
594:centrosome
486:Structures
481:Search for
455:Other data
1395:cytoplasm
1122:chaperone
873:(1): 49.
822:(1): e8.
666:Discovery
653:mutations
617:Knockdown
600:. During
590:cytoplasm
437:NM_015120
396:NCBI gene
76:Orthologs
53:GeneCards
1177:RPGRIP1L
1062:RPGRIP1L
1013:proteins
1011:Ciliary
944:11941370
899:18154657
848:17206865
700:See also
612:Function
574:pancreas
500:InterPro
350:Wikidata
1469:TMEM216
1464:SDCCAG8
1407:nucleus
1379:RSPH10B
1326:axoneme
1243:RPGRIP1
890:2266715
839:1761047
797:9205841
775:DNA Res
756:9063741
608:poles.
606:spindle
602:mitosis
520:protein
496:Domains
444:UniProt
180:UniProt
139:Ensembl
82:Species
38:Aliases
16:Protein
1474:TXNDC3
1459:LRRC50
1449:INPP5E
1439:ARL13B
1369:RSPH6A
1364:RSPH4A
1331:DNAH11
1298:Dynein
1288:TMEM67
1263:INPP5E
1258:ARL13B
1167:CEP290
1162:CC2D2A
1152:TRIM32
1080:BBsome
1052:CEP290
977:(MeSH)
942:
897:
887:
846:
836:
795:
754:
586:testis
582:spleen
558:kidney
466:Chr. 2
449:Q8TCU4
432:RefSeq
425:606844
387:Symbol
330:search
328:PubMed
98:Entrez
1512:This
1454:KIF3A
1444:BRCC3
1430:other
1424:IFT80
1412:GLIS2
1388:Other
1374:RSPH9
1359:RSPH3
1354:RSPH1
1336:DNAI1
1319:DNAL1
1314:DNAI2
1309:DNAH5
1273:PKHD1
1268:IQCB1
1248:TULP1
1217:Cilia
1207:NPHP1
1197:NPHP4
1157:ALMS1
1143:Other
1137:BBS12
1132:BBS10
1057:GLIS2
1047:IQCB1
1042:NPHP4
1037:NPHP3
1027:NPHP1
916:ALMS1
689:ALMS1
680:Maine
660:exons
645:ALMS1
621:Alms1
562:liver
550:brain
546:aorta
524:ALMS1
518:is a
516:ALMS1
470:p13.1
461:Locus
390:ALMS1
91:Mouse
86:Human
1518:stub
1434:AHI1
1283:PKD2
1278:PKD1
1238:RPGR
1228:LCA5
1202:NEK8
1192:INVS
1187:AHI1
1182:OFD1
1172:MKS1
1147:ARL6
1127:MKKS
1115:BBS9
1110:TTC8
1105:BBS7
1100:BBS5
1095:BBS4
1090:BBS2
1085:BBS1
1032:INVS
940:PMID
895:PMID
844:PMID
793:PMID
752:PMID
670:The
584:and
566:lung
527:gene
420:OMIM
408:HGNC
401:7840
1400:KTU
1233:RP1
930:doi
885:PMC
875:doi
834:PMC
824:doi
783:doi
742:doi
674:in
623:by
619:of
554:eye
413:428
339:n/a
334:n/a
321:n/a
316:n/a
301:n/a
282:n/a
258:n/a
239:n/a
216:n/a
169:n/a
152:n/a
128:n/a
111:n/a
60:OMA
1563::
938:.
926:31
924:.
920:.
893:.
883:.
869:.
865:.
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