Property Summary

NCBI Gene PubMed Count 18
Grant Count 84
R01 Count 50
Funding $16,726,137.22
PubMed Score 96.47
PubTator Score 43.23

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6ZRV2 A0JLS2 Q8N4W0
Symbols AI3

Gene

Gene RIF (14)

PMID Text
26142250 FAM83H missense mutation reported in one of the 3 Chilean families analyzed in this study might cause a phenotype of hypocalcified enamel more attenuated with retention of amelogenin.
25487982 In hereditary amelogenesis imperfect, our study demonstrates that FAM83H mutations could influence enamel biomineralization and dentine formation.
23902688 Results suggest keratin cytoskeleton organization is regulated by FAM83H recruitment of CK-1alpha to keratins, and keratin filament disassembly caused by overexpression of FAM83H and localization of CK-1alpha contribute to the progression of colorectal cancer.
23355523 amelogenesis imperfecta-causing mutations were identified in three of the probands: 3)a previously described nonsense transition mutation in a single allele of FAM83H (c.1379G>A; g.5663G>A; p.W460*)
22414746 Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta.
21702852 This study reports on a novel FAM83H nonsense mutation, p.Y302X, in a Danish five-generation family with autosomal dominant hypocalcified amelogenesis imperfect. The phenotypic variation in the affected family members with this mutation was limited.
21118793 nuclear targeting of the truncated FAM83H protein contributes to the severe, generalized enamel phenotype in [autosomal-dominant hypocalcification amelogenesis imperfecta]
20160442 a novel nonsense FAM83H mutation (c.1374C 1 A; p.Y458X)causing autosomal dominant hypocalcified amelogenesis imperfecta
19828885 Fam83h localizes in the intracellular environment, is associated with vesicles, and plays an important role in dental enamel formation. FAM83H is the first gene involved in the etiology of amelogenesis imperfecta that does not encode a secreted protein.
19825039 A novel nonsense mutation (c.1354C>T, p.Q452X) was identified in the last exon of FAM83H, which resulted in soft, uncalcified enamel [in amelogenesis imperfecta]
More...

AA Sequence

MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEELEHVSRHLRP      1 - 70
PQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEA     71 - 140
RRMIRSAQQVVAVVMDMFTDVDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRT    141 - 210
VAGPTYYCRTGKSFKGHVKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQ    211 - 280
SEPLVPSAAALARMDAYALAPYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHF    281 - 350
LSAFRREEPPRMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAV    351 - 420
ENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQWDPQLTPARPQGLFEKLRGGRAGFADPDDFT    421 - 490
LGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDP    491 - 560
APEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGLPAPMEAEAYEDDVLAPGGRAPAGDLLPSAF    561 - 630
RVPAAFPTKVPVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAA    631 - 700
AATEKVQLLHKEQTVSETLGPGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWR    701 - 770
EEVAAPGAVGGERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQS    771 - 840
HSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQKGSPTSAYPE    841 - 910
RRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPMEVLRKGSLRLRQLLSPKGERR    911 - 980
MEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANALYSSNLRDDTKAILEQISAH    981 - 1050
GQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLL   1051 - 1120
RRMESMRKEKRVYSRFEVFCKKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK              1121 - 1179
//

Text Mined References (29)

PMID Year Title
26142250 2015 Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.
25487982 2015 Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23902688 2013 A novel mechanism of keratin cytoskeleton organization through casein kinase I? and FAM83H in colorectal cancer.
23355523 2013 Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22414746 2012 Molecular characterization of amelogenesis imperfecta in Chinese patients.
21702852 2011 Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.
21269460 2011 Initial characterization of the human central proteome.
21118793 2011 FAM83H mutations cause ADHCAI and alter intracellular protein localization.
More...