FAM20A
entrez
54757
canonical
uniprot
Q96MK3
canonical
ensembl
ENSG00000108950
resolver
ensp
ENSP00000468308
resolver
ensp
ENSP00000653420
resolver
ensp
ENSP00000653421
resolver
ensp
ENSP00000717435
resolver
enst
ENST00000592554
resolver
genesymbol
FAM20A
resolver
genesymbol
Fam20A
resolver
genesymbol_syn
FAM20A
resolver
hgnc
HGNC:23015
resolver
uniprot
B2RN47
resolver
uniprot
B2RN49
resolver
uniprot
B7Z4Y3
resolver
uniprot
L8B8N7
resolver
uniprot
Q8IYA5
resolver
uniprot
Q9UF95
resolver
uniprot_entry
B7Z4Y3_HUMAN
resolver
uniprot_entry
FA20A_HUMAN
resolver
uniprot_entry
L8B8N7_HUMAN
resolver
uniprot_entry
Q8IYA5_HUMAN
resolver
uniprot_sec
B2RN47
resolver
uniprot_sec
B2RN49
resolver
uniprot_sec
Q9UF95
resolver
amino_acid_sequence
MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGCPCTGRASSLARDSAAAASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYNVPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEASWVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPSGVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFRRVPPTVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPHLLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQRLLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLSQCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRTVEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS
uniprot
proteins
disease_involvement
DISEASE: Amelogenesis imperfecta 1G (AI1G) [MIM:204690]: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth. {ECO:0000269|PubMed:21549343, ECO:0000269|PubMed:21990045, ECO:0000269|PubMed:23434854, ECO:0000269|PubMed:23468644, ECO:0000269|PubMed:23697977, ECO:0000269|PubMed:24196488, ECO:0000269|PubMed:24259279, ECO:0000269|PubMed:24756937, ECO:0000269|PubMed:25636655, ECO:0000269|PubMed:25789606, ECO:0000269|PubMed:25827751}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals. {ECO:0000269|PubMed:25789606}.
uniprot
proteins
mass_dalton
61417
uniprot
proteins
mutagenesis
MUTAGEN 258; /note="Q->E: Able to hydrolyze ATP and display some protein kinase activity."; /evidence="ECO:0000269|PubMed:25789606
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q8CID3}.
uniprot
proteins
protein_family
FAM20 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15676076
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21549343
uniprot
proteins
pubmed
21990045
uniprot
proteins
pubmed
23434854
uniprot
proteins
pubmed
23468644
uniprot
proteins
pubmed
23697977
uniprot
proteins
pubmed
24196488
uniprot
proteins
pubmed
24259279
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24756937
uniprot
proteins
pubmed
25636655
uniprot
proteins
pubmed
25789606
uniprot
proteins
pubmed
25827751
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q8CID3}. Golgi apparatus {ECO:0000269|PubMed:23468644}. Endoplasmic reticulum {ECO:0000250|UniProtKB:Q8CID3}.
uniprot
proteins