AMELY_HUMAN
ID AMELY_HUMAN Reviewed; 206 AA.
AC Q99218; Q6RWT1;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 169.
DE RecName: Full=Amelogenin, Y isoform;
DE Flags: Precursor;
GN Name=AMELY; Synonyms=AMGL, AMGY;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Tooth bud;
RX PubMed=1734713;
RA Salido E.C., Yen P.H., Koprivnikar K., Yu L.-C., Shapiro L.J.;
RT "The human enamel protein gene amelogenin is expressed from both the X and
RT the Y chromosomes.";
RL Am. J. Hum. Genet. 50:303-316(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA Lin L., Zhong G., Li H., Ke R., Shen C., Zhou G., Yang S.;
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-206 (ISOFORM 2).
RX PubMed=2004775; DOI=10.1016/0888-7543(91)90251-9;
RA Nakahori Y., Takenaka O., Nakagome Y.;
RT "A human X-Y homologous region encodes 'amelogenin'.";
RL Genomics 9:264-269(1991).
CC -!- FUNCTION: Plays a role in biomineralization. Seems to regulate the
CC formation of crystallites during the secretory stage of tooth enamel
CC development. Thought to play a major role in the structural
CC organization and mineralization of developing enamel.
CC -!- INTERACTION:
CC Q99218-1; P31937: HIBADH; NbExp=3; IntAct=EBI-17435683, EBI-11427100;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2;
CC IsoId=Q99218-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q99218-1; Sequence=VSP_017077;
CC -!- DEVELOPMENTAL STAGE: Transiently but abundantly expressed by
CC ameloblasts during tooth development. Amelogenin is the predominant
CC protein in developing dental enamel.
CC -!- SIMILARITY: Belongs to the amelogenin family. {ECO:0000305}.
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DR EMBL; M86933; AAA51718.1; -; mRNA.
DR EMBL; AY487421; AAR39431.1; -; mRNA.
DR EMBL; BC069138; AAH69138.1; -; mRNA.
DR EMBL; BC074976; AAH74976.1; -; mRNA.
DR EMBL; BC074977; AAH74977.1; -; mRNA.
DR EMBL; M55419; AAA62827.1; -; Genomic_DNA.
DR EMBL; X14439; CAA32612.1; -; Genomic_DNA.
DR CCDS; CCDS14778.1; -. [Q99218-1]
DR PIR; F41816; F41816.
DR RefSeq; NP_001134.1; NM_001143.1. [Q99218-1]
DR RefSeq; XP_016885531.1; XM_017030042.1.
DR AlphaFoldDB; Q99218; -.
DR BioGRID; 106763; 1.
DR IntAct; Q99218; 1.
DR BioMuta; AMELY; -.
DR DMDM; 85681286; -.
DR PeptideAtlas; Q99218; -.
DR PRIDE; Q99218; -.
DR Antibodypedia; 5353; 24 antibodies from 12 providers.
DR DNASU; 266; -.
DR Ensembl; ENST00000383036.1; ENSP00000372505.1; ENSG00000099721.16. [Q99218-2]
DR Ensembl; ENST00000651267.2; ENSP00000498344.1; ENSG00000099721.16. [Q99218-1]
DR GeneID; 266; -.
DR KEGG; hsa:266; -.
DR MANE-Select; ENST00000651267.2; ENSP00000498344.1; NM_001143.2; NP_001134.1. [Q99218-1]
DR UCSC; uc004fqz.3; human. [Q99218-2]
DR CTD; 266; -.
DR DisGeNET; 266; -.
DR GeneCards; AMELY; -.
DR HGNC; HGNC:462; AMELY.
DR HPA; ENSG00000099721; Not detected.
DR MIM; 410000; gene.
DR neXtProt; NX_Q99218; -.
DR OpenTargets; ENSG00000099721; -.
DR PharmGKB; PA24767; -.
DR VEuPathDB; HostDB:ENSG00000099721; -.
DR GeneTree; ENSGT01040000241139; -.
DR HOGENOM; CLU_120753_0_0_1; -.
DR InParanoid; Q99218; -.
DR OMA; NMLRYPY; -.
DR OrthoDB; 1509730at2759; -.
DR PhylomeDB; Q99218; -.
DR TreeFam; TF337092; -.
DR PathwayCommons; Q99218; -.
DR SignaLink; Q99218; -.
DR BioGRID-ORCS; 266; 6 hits in 647 CRISPR screens.
DR GeneWiki; AMELY; -.
DR GenomeRNAi; 266; -.
DR Pharos; Q99218; Tbio.
DR PRO; PR:Q99218; -.
DR Proteomes; UP000005640; Chromosome Y.
DR RNAct; Q99218; protein.
DR Bgee; ENSG00000099721; Expressed in sural nerve and 18 other tissues.
DR Genevisible; Q99218; HS.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-KW.
DR GO; GO:0030345; F:structural constituent of tooth enamel; IDA:BHF-UCL.
DR GO; GO:0070166; P:enamel mineralization; IBA:GO_Central.
DR InterPro; IPR004116; Amelogenin.
DR PANTHER; PTHR46794; PTHR46794; 1.
DR PRINTS; PR01757; AMELOGENIN.
DR SMART; SM00818; Amelogenin; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Biomineralization; Extracellular matrix;
KW Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..16
FT /evidence="ECO:0000250"
FT CHAIN 17..206
FT /note="Amelogenin, Y isoform"
FT /id="PRO_0000001200"
FT REGION 118..180
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 118..136
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 137..180
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 35..48
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:1734713"
FT /id="VSP_017077"
FT CONFLICT 31
FT /note="F -> L (in Ref. 2; AAR39431)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="D -> VSTP (in Ref. 4; AAA62827/CAA32612)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 206 AA; 23250 MW; 9324AB50546DB4D5 CRC64;
MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRIALVL TPLKWYQSMI
RPPYSSYGYE PMGGWLHHQI IPVVSQQHPL THTLQSHHHI PVVPAQQPRV RQQALMPVPG
QQSMTPTQHH QPNLPLPAQQ PFQPQPVQPQ PHQPMQPQPP VQPMQPLLPQ PPLPPMFPLR
PLPPILPDLH LEAWPATDKT KQEEVD
