Property Summary

NCBI Gene PubMed Count 61
Grant Count 59
R01 Count 27
Funding $21,276,435.35
PubMed Score 120.21
PubTator Score 75.68

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
Multiple myeloma -1.207 0.009
malignant mesothelioma 2.200 0.000
astrocytic glioma 2.200 0.003
ependymoma 2.300 0.002
oligodendroglioma 2.200 0.001
psoriasis 1.500 0.000
osteosarcoma 2.210 0.000
group 3 medulloblastoma 2.100 0.000
medulloblastoma, large-cell 1.300 0.001
primitive neuroectodermal tumor 1.800 0.000
pancreatic ductal adenocarcinoma liver m... 1.692 0.004
lung cancer 1.100 0.009
Pick disease 1.200 0.000
chronic rhinosinusitis -1.206 0.011
cystic fibrosis and chronic rhinosinusit... -1.016 0.044

Gene RIF (39)

PMID Text
26957854 Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies.
26077327 We conclude that two independent mutations in ALMS1 and DYSF cause CRD and muscular dystrophy in the studied consanguineous Israeli Arab family.
25864795 In this study, we have characterized the presenting ophthalmic phenotype of young children molecularly confirmed to harbor recessive homozygous ALMS1 mutations but not yet diagnosed with Alstrom syndrome.
25846608 The study represents the most comprehensive mutation analysis in patients with Alstrom Syndrome, identifying the largest number of novel mutations in a single study worldwide.
25296579 ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare.
24972238 Identification of a homozygous deleterious mutation in the ALMS1 gene as the cause of mitogenic cardiomyopathy in two siblings.
24681783 regulates Notch activation and the accumulation of receptor in late endosomes
24595103 Data conclude that deficiency of Alstrom protein impairs postnatal cardiomyocyte cell cycle arrest.
24503146 Our study expands the clinical spectrum associated with ALMS1 mutations and supports complete ALMS1 gene sequencing in children that present with infantile cardiomyopathy and retinopathy.
24319333 A novel ALMS1 mutation (p.Q2051X) causes Alstrom syndrome in two Japanese brothers but spares their heterozygous parents.
More...

AA Sequence

MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEAGRELDSDSHYGPQHLESIDD      1 - 70
EEDEEAKAWLQAHPGRILPPLSPPQHRYSEGERTSLEKIVPLTCHVWQQIVYQGNSRTQISDTNVVCLET     71 - 140
TAQRGSGDDQKTESWHCLPQEMDSSQTLDTSQTRFNVRTEDTEVTDFPSLEEGILTQSENQVKEPNRDLF    141 - 210
CSPLLVIQDSFASPDLPLLTCLTQDQEFAPDSLFHQSELSFAPLRGIPDKSEDTEWSSRPSEVSEALFQA    211 - 280
TAEVASDLASSRFSVSQHPLIGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKT    281 - 350
RKDTQWPENNLADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQEDSSKQAETYLTKGLQGKVE    351 - 420
SDVITLDGLNENAVVCSERVAELQRKPTRESEYHSSDLRMLRMSPDTVPKAPKHLKAGDTSKGGIAKVTQ    421 - 490
SNLKSGITTTPVDSDIGSHLSLSLEDLSQLAVSSLETTTGQHTDTLNQKTLADTHLTEETLKVTAIPEPA    491 - 560
DQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALKVSAAPGLADQTTGMSTLTSTSYSHREKPGTF    561 - 630
YQQELPESNLTEEPLEVSAAPGPVEQKTGIPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGP    631 - 700
ADQKTGTATVLSTPHSHREKPGIFYQQEFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPS    701 - 770
ILYPQDLADSHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAVS    771 - 840
GPADGKTGTPAVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGIPSAPSSFYSHR    841 - 910
EKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEKSSVFYQQELPDSDLPRESLKM    911 - 980
SAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQEWPDSYATEKALKVSTGPGPADQKTEIPAVQSSSYP    981 - 1050
QREKPSVLYPQVLSDSHLPEESLKVSAFPGPADQMTDTPAVPSTFYSQREKPGIFYQQTLPESHLPKEAL   1051 - 1120
KISVAPGLADQKTGTPTVTSTSYSQHREKPSIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTF   1121 - 1190
YSQREKPGIFYQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQVLPDNHPTEE   1191 - 1260
ALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSLPSSHLTEEAKNVSAVPGPADQKTVIPILPS   1261 - 1330
TFYSHTEKPGVFYQQVLPHSHPTEEALKISVASEPVDQTTGTPTVTSTSYSQHTEKPSIFYQQSLPGSHL   1331 - 1400
TEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQQVLPHSHLPEEALEVSVAPGPVDQTIGTPTV   1401 - 1470
TSPSSSFGEKPIVIYKQAFPEGHLPEESLKVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGS   1471 - 1540
QIPEEALRVSSAPGPADQTTGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVSGPTEKKTDIP   1541 - 1610
AGPLGSSALGEKPITFYRQALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQTLSD   1611 - 1680
SHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSAVPQPADQKTGL   1681 - 1750
STVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVSTVTSTSYSHREKPIVSYQRELP   1751 - 1820
HFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVISYEQELPDLTEVTLKAIGVPGPADQKTGIQIA   1821 - 1890
SSSSYSNREKASIFHQQELPDVTEEALNVFVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQELPDSHLT   1891 - 1960
EEALKVSPVSIPAEQKTGIPIGLSSSYSHSHKEKLKISTVHIPDDQKTEFPAATLSSYSQIEKPKISTVI   1961 - 2030
GPNDQKTPSQTAFHSSYSQTVKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREKS   2031 - 2100
NIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQKDLPDRHLTEDALKISSA   2101 - 2170
LGQADQITGLQTVPSGTYSHGENHKLVSEHVQRLIDNLNSSDSSVSSNNVLLNSQADDRVVINKPESAGF   2171 - 2240
RDVGSEEIQDAENSAKTLKEIRTLLMEAENMALKRCNFPAPLARFRDISDISFIQSKKVVCFKEPSSTGV   2241 - 2310
SNGDLLHRQPFTEESPSSRCIQKDIGTQTNLKCRRGIENWEFISSTTVRSPLQEAESKVSMALEETLRQY   2311 - 2380
QAAKSVMRSEPEGCSGTIGNKIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVS   2381 - 2450
PKTSITDSREEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILRNAEEEESRVRAHAWNMKFNL   2451 - 2520
AHDCGYSISELNEDDRRKVEEIKAELFGHGRTTDLSKGLQSPRGMGCKPEAVCSHIIIESHEKGCFRTLT   2521 - 2590
SEHPQLDRHPCAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHFKVWNSLQLKSHSPFQNFIPDE   2591 - 2660
FKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSSQMPSPEPMKKFTTSITFSSHRHSKCISNSSV   2661 - 2730
VKVGVTEGSQCTGASVGVFNSHFTEEQNPPRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVD   2731 - 2800
FERSFQEEKPLERSDFTGSHSEPSTRANCSNFKEIQISDNHTLISMGRPSSTLGVNRSSSRLGVKEKNVT   2801 - 2870
ITPDLPSCIFLEQRELFEQSKAPRADDHVRKHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDHQ   2871 - 2940
MRENHSPLPQGQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQHKPKSHISNIN   2941 - 3010
VEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITLCPKTSSKLDSGTLDERFHSLDAASKARMNS   3011 - 3080
EFNFDLHTVSSRSLEPTSKLLTSKPVAQDQESLGFLGPKSSLDFQVVQPSLPDSNTITQDLKTIPSQNSQ   3081 - 3150
IVTSRQIQVNISDFEGHSNPEGTPVFADRLPEKMKTPLSAFSEKLSSDAVTQITTESPEKTLFSSEIFIN   3151 - 3220
AEDRGHEIIEPGNQKLRKAPVKFASSSSVQQVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDS   3221 - 3290
KSDTTVESSHSGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGEKPLQNENADA   3291 - 3360
SVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQKDTADSSAAAAAEHSAQVGDPEMKNLPDTKA   3361 - 3430
ITQKEEIHRKKTVPEEAWPNNKESLQINIEESECHSEFENTTRSVFRSAKFYIHHPVHLPSDQDICHESL   3431 - 3500
GKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKTDYTRIKSLSINVNLGNKEVMDTTKSQVRDYP   3501 - 3570
KHNGQISDPQRDQKVTPEQTTQHTVSLNELWNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPIT   3571 - 3640
HSLQVSESTHDDSRGERSVKEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHHRAGRSNQIKI   3641 - 3710
EQIKFDKYILSKQPGFNYISNTSSDCRPSEESELLTDTTTNILSGTTSTVESDILTQTDREVALHERSSS   3711 - 3780
VSTIDTARLIQAFGHERVCLSPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTSEHTRRRHIQVA   3781 - 3850
NHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKKHTRDVGITFPTPSSSEAKLEE   3851 - 3920
NSDVTSWSEEKREEKMLFTGYPEDRKLKKNKKNSHEGVSWFVPVENVESRSKKENVPNTCGPGISWFEPI   3921 - 3990
TKTRPWREPLREQNCQGQHLDGRGYLAGPGREAGRDLLRPFVRATLQESLQFHRPDFISRSGERIKRLKL   3991 - 4060
IVQERKLQSMLQTERDALFNIDRERQGHQNRMCPLPKRVFLAIQKNKPISKKEMIQRSKRIYEQLPEVQK   4061 - 4130
KREEEKRKSEYKSYRLRAQLYKKRVTNQLLGRKVPWD                                    4131 - 4167
//

Text Mined References (64)

PMID Year Title
26957854 Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
26077327 2015 Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
25864795 2015 Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.
25846608 2015 Alström Syndrome: Mutation Spectrum of ALMS1.
25296579 2015 The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
24972238 2014 Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24681783 2014 Basal body proteins regulate Notch signaling through endosomal trafficking.
24595103 2014 Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
24586186 2014 Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
More...