FAM83H
entrez
286077
canonical
uniprot
Q6ZRV2
canonical
ensembl
ENSG00000180921
resolver
ensembl
ENSG00000273889
resolver
ensp
ENSP00000373565
resolver
ensp
ENSP00000478790
resolver
ensp
ENSP00000605345
resolver
ensp
ENSP00000605346
resolver
ensp
ENSP00000605347
resolver
ensp
ENSP00000635881
resolver
ensp
ENSP00000635882
resolver
ensp
ENSP00000635883
resolver
ensp
ENSP00000635884
resolver
enst
ENST00000388913
resolver
enst
ENST00000612192
resolver
enst
ENST00000935286
resolver
enst
ENST00000935287
resolver
enst
ENST00000935288
resolver
enst
ENST00000965822
resolver
enst
ENST00000965823
resolver
enst
ENST00000965824
resolver
enst
ENST00000965825
resolver
genesymbol
FAM83H
resolver
hgnc
HGNC:24797
resolver
uniprot
A0JLS2
resolver
uniprot
Q71RB4
resolver
uniprot
Q8N4W0
resolver
uniprot_entry
FA83H_HUMAN
resolver
uniprot_entry
Q71RB4_HUMAN
resolver
uniprot_sec
A0JLS2
resolver
uniprot_sec
Q8N4W0
resolver
amino_acid_sequence
MARRSQSSSQGDNPLAPGYLPPHYKEYYRLAVDALAEGGSEAYSRFLATEGAPDFLCPEELEHVSRHLRPPQYVTREPPEGSLLDVDMDGSSGTYWPVNSDQAVPELDLGWPLTFGFQGTEVTTLVQPPPPDSPSIKDEARRMIRSAQQVVAVVMDMFTDVDLLSEVLEAAARRVPVYILLDEMNAQHFLDMADKCRVNLQHVDFLRVRTVAGPTYYCRTGKSFKGHVKEKFLLVDCAVVMSGSYSFMWSFEKIHRSLAHVFQGELVSSFDEEFRILFAQSEPLVPSAAALARMDAYALAPYAGAGPLVGVPGVGAPTPFSFPKRAHLLFPPPREEGLGFPSFLDPDRHFLSAFRREEPPRMPGGALEPHAGLRPLSRRLEAEAGPAGELAGARGFFQARHLEMDAFKRHSFATEGAGAVENFAAARQVSRQTFLSHGDDFRFQTSHFHRDQLYQQQYQWDPQLTPARPQGLFEKLRGGRAGFADPDDFTLGAGPRFPELGPDGHQRLDYVPSSASREVRHGSDPAFAPGPRGLEPSGAPRPNLTQRFPCQAAARPGPDPAPEAEPERRGGPEGRAGLRRWRLASYLSGCHGEDGGDDGLPAPMEAEAYEDDVLAPGGRAPAGDLLPSAFRVPAAFPTKVPVPGPGSGGNGPEREGPEEPGLAKQDSFRSRLNPLVQRSSRLRSSLIFSTSQAEGAAGAAAATEKVQLLHKEQTVSETLGPGGEAVRSAASTKVAELLEKYKGPARDPGGGAGAITVASHSKAVVSQAWREEVAAPGAVGGERRSLESCLLDLRDSFAQQLHQEAERQPGAASLTAAQLLDTLGRSGSDRLPSRFLSAQSHSTSPQGLDSPLPLEGSGAHQVLHNESKGSPTSAYPERKGSPTPGFSTRRGSPTTGFIEQKGSPTSAYPERRGSPVPPVPERRSSPVPPVPERRGSLTLTISGESPKAGPAEEGPSGPMEVLRKGSLRLRQLLSPKGERRMEDEGGFPVPQENGQPESPRRLSLGQGDSTEAATEERGPRARLSSATANALYSSNLRDDTKAILEQISAHGQKHRAVPAPSPGPTHNSPELGRPPAAGVLAPDMSDKDKCSAIFRSDSLGTQGRLSRTLPASAEERDRLLRRMESMRKEKRVYSRFEVFCKKEEASSPGAGEGPAEEGTRDSKVGKFVPKILGTFKSKK
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 3A (AI3A) [MIM:130900]: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. {ECO:0000269|PubMed:18252228, ECO:0000269|PubMed:26142250}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688). {ECO:0000269|PubMed:18252228, ECO:0000269|PubMed:23902688}.
uniprot
proteins
mass_dalton
127122
uniprot
proteins
mutagenesis
MUTAGEN 236; /note="D->A: Decreased interaction with CSNK1A1 and CSNK1E."; /evidence="ECO:0000269|PubMed:29789297"; MUTAGEN 251; /note="F->A: No effect on interaction with CSNK1A1 and function in keratin cytoskeleton organization."; /evidence="ECO:0000269|PubMed:23902688"; MUTAGEN 270; /note="F->A: Decreased interaction with CSNK1A1 and CSNK1E."; /evidence="ECO:0000269|PubMed:29789297"; MUTAGEN 274; /note="F->A: Decreased interaction with CSNK1A1 and loss of function in keratin cytoskeleton organization."; /evidence="ECO:0000269|PubMed:23902688
uniprot
proteins
protein_family
SACK1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18252228
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23902688
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26142250
uniprot
proteins
pubmed
29789297
uniprot
proteins
sequence_length
1179
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:23902688}. Cytoplasm {ECO:0000269|PubMed:29789297}. Note=Colocalizes with keratin filaments. {ECO:0000269|PubMed:23902688}.
uniprot
proteins