Reviewed, UniProtKB/Swiss-Prot Q99218 (AMELY_HUMAN)

Names and origin

Protein names

Recommended name:
    Amelogenin, Y isoform

Gene names

Name:	AMELY
Synonyms:	AMGL, AMGY

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	206 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.
Subcellular location	Secreted › extracellular space › extracellular matrix.
Developmental stage	Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel.
Miscellaneous	This isoform is encoded on the Y chromosome.
Sequence similarities	Belongs to the amelogenin family.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Alternative splicing
Domain	Repeat Signal
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	biomineral formation Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	extracellular matrix part Ref.1 Inferred by curator. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	structural constituent of tooth enamel Ref.1 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 2 (identifier: Q99218-2)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1 (identifier: Q99218-1)

The sequence of this isoform differs from the canonical sequence as follows:
     35-48: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 16	16	By similarity
	Chain	17 – 206	190	Amelogenin, Y isoform		PRO_0000001200
Regions
	Compositional bias	86 – 170	85	Gln-rich
Amino acid modifications
	Modified residue	32	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	35 – 48	14	Missing in isoform 1.		VSP_017077
Experimental info
	Sequence conflict	31	1	F → L in AAR39431. Ref.2
	Sequence conflict	206	1	D → VSTP in AAA62827. Ref.4
	Sequence conflict	206	1	D → VSTP in CAA32612. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 2 [UniParc]. Last modified January 24, 2006. Version 2. Checksum: 9324AB50546DB4D5	FASTA	206	23,250
	10 20 30 40 50 60 MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYENSHSQA INVDRIALVL TPLKWYQSMI 70 80 90 100 110 120 RPPYSSYGYE PMGGWLHHQI IPVVSQQHPL THTLQSHHHI PVVPAQQPRV RQQALMPVPG 130 140 150 160 170 180 QQSMTPTQHH QPNLPLPAQQ PFQPQPVQPQ PHQPMQPQPP VQPMQPLLPQ PPLPPMFPLR 190 200 PLPPILPDLH LEAWPATDKT KQEEVD
	Isoform 1. Checksum: 978508D0C9418378	FASTA	192	21,730
	10 20 30 40 50 60 MGTWILFACL VGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSMIRPPY SSYGYEPMGG 70 80 90 100 110 120 WLHHQIIPVV SQQHPLTHTL QSHHHIPVVP AQQPRVRQQA LMPVPGQQSM TPTQHHQPNL 130 140 150 160 170 180 PLPAQQPFQP QPVQPQPHQP MQPQPPVQPM QPLLPQPPLP PMFPLRPLPP ILPDLHLEAW 190 PATDKTKQEE VD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes." Salido E.C., Yen P.H., Koprivnikar K., Yu L.-C., Shapiro L.J. Am. J. Hum. Genet. 50:303-316(1992) [PubMed: 1734713] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Tooth bud.
[2]	Lin L., Zhong G., Li H., Ke R., Shen C., Zhou G., Yang S. Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"A human X-Y homologous region encodes 'amelogenin'." Nakahori Y., Takenaka O., Nakagome Y. Genomics 9:264-269(1991) [PubMed: 2004775] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-206 (ISOFORM 2).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	M86933 mRNA. Translation: AAA51718.1. AY487421 mRNA. Translation: AAR39431.1. BC069138 mRNA. Translation: AAH69138.1. BC074976 mRNA. Translation: AAH74976.1. BC074977 mRNA. Translation: AAH74977.1. M55419 Genomic DNA. Translation: AAA62827.1. X14439 Genomic DNA. Translation: CAA32612.1.
IPI	IPI00450003. IPI00647871.
PIR	F41816.
RefSeq	NP_001134.1.
UniGene	Hs.1238
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q99218.
Genome annotation databases
Ensembl	ENST00000383036; ENSP00000372505; ENSG00000099721; Homo sapiens. [Genome view] ENST00000383037; ENSP00000372506; ENSG00000099721; Homo sapiens. [Genome view]
GeneID	266.
KEGG	hsa:266.
UCSC	uc004fqz.1. human. uc004fra.1. human.
Organism-specific databases
CTD	266.
GeneCards	GC0YM006777.
H-InvDB	HIX0056695.
HGNC	HGNC:462. AMELY.
HPA	HPA005988.
MIM	410000. gene.
PharmGKB	PA24767.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q99218.
OMA	NVDRIAL
OrthoDB	EOG99PDJN
Gene expression databases
ArrayExpress	Q99218.
Bgee	Q99218.
CleanEx	HS_AMELY.
Genevestigator	Q99218.
GermOnline	ENSG00000099721. Homo sapiens.
Family and domain databases
InterPro	IPR004116. Amelogenin. [Graphical view]
Pfam	PF02948. Amelogenin. 1 hit. [Graphical view]
PRINTS	PR01757. AMELOGENIN.
SMART	SM00818. Amelogenin. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	1045.
PMAP-CutDB	Q99218.
SOURCE	Search...

Entry information

Entry name

AMELY_HUMAN

Accession

Primary (citable) accession number: Q99218
Secondary accession number(s): Q6RWT1

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 24, 2006
Last modified:	November 24, 2009
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.