Property Summary

NCBI Gene PubMed Count 18
PubMed Score 96.47
PubTator Score 43.23

Knowledge Summary

Patent

No data available

Expression

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]
19407157 Affected individuals having truncating FAMH3H mutations of 677 or fewer amino acids presented a generalized autosomal-dominant hypocalcified amelogenesis imperfecta phenotype. A unique and previously unreported phenotype is also described.
19220331 identified FAM83H nonsense mutations in all eight families with autosomal dominant hypocalcified amelogenesis imperfecta
18484629 the C-terminal portion of FAM83H is required for tooth enamel calcification
18252228 FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta demonstrate that FAM83H is required for proper dental-enamel calcification.

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.
20160442 2010 Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19828885 2009 Fam83h is associated with intracellular vesicles and ADHCAI.
19825039 2009 Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
19407157 2009 Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19220331 2009 Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18484629 2008 Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.
18252228 2008 FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.