Reviewed, UniProtKB/Swiss-Prot Q6UX39 (AMTN_HUMAN)

Names and origin

Protein names

Recommended name:
    Amelotin

Gene names

Name:	AMTN
ORF Names:	UNQ689/PRO1329

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

General annotation (Comments)

Function	Could be a cell adhesion protein involved in the maturation of tooth enamel.
Subcellular location	Secreted Probable.
Post-translational modification	O-glycosylated By similarity.
Sequence similarities	Belongs to the amelotin family.

Ontologies

Keywords
Biological process	Biomineralization Cell adhesion
Cellular component	Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	biomineral formation Inferred from electronic annotation. Source: UniProtKB-KW cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW odontogenesis of dentine-containing tooth Inferred from sequence or structural similarity. Source: HGNC
Cellular component	basal lamina Inferred from sequence or structural similarity. Source: HGNC cell-cell junction Inferred from sequence or structural similarity. Source: HGNC
Molecular function	protein binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q6UX39-1)

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 2 (identifier: Q6UX39-2)

The sequence of this isoform differs from the canonical sequence as follows:
     19-19: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 16	16	Ref.3
	Chain	17 – 209	193	Amelotin		PRO_0000022613
Natural variations
	Alternative sequence	19	1	Missing in isoform 2.		VSP_023919
	Natural variant	45	1	N → S: dbSNP rs7660807.		VAR_050661
	Natural variant	50	1	S → P: dbSNP rs34803339.		VAR_050662
	Natural variant	78	1	G → S in a colorectal cancer sample; somatic mutation. Ref.4		VAR_035791

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 5DD8991674DB8457	FASTA	209	21,588
	10 20 30 40 50 60 MRSTILLFCL LGSTRSLPQL KPALGLPPTK LAPDQGTLPN QQQSNQVFPS LSLIPLTQML 70 80 90 100 110 120 TLGPDLHLLN PAAGMTPGTQ THPLTLGGLN VQQQLHPHVL PIFVTQLGAQ GTILSSEELP 130 140 150 160 170 180 QIFTSLIIHS LFPGGILPTS QAGANPDVQD GSLPAGGAGV NPATQGTPAG RLPTPSGTDD 190 200 DFAVTTPAGI QRSTHAIEEA TTESANGIQ
	Isoform 2. Checksum: B1CE2E87F84854B0	FASTA	208	21,459
	10 20 30 40 50 60 MRSTILLFCL LGSTRSLPLK PALGLPPTKL APDQGTLPNQ QQSNQVFPSL SLIPLTQMLT 70 80 90 100 110 120 LGPDLHLLNP AAGMTPGTQT HPLTLGGLNV QQQLHPHVLP IFVTQLGAQG TILSSEELPQ 130 140 150 160 170 180 IFTSLIIHSL FPGGILPTSQ AGANPDVQDG SLPAGGAGVN PATQGTPAGR LPTPSGTDDD 190 200 FAVTTPAGIQ RSTHAIEEAT TESANGIQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[2]	"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] (ISOFORMS 1 AND 2).
[3]	"Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 17-31.
[4]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-78.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY358528 mRNA. Translation: AAQ88892.1. BC121812 mRNA. Translation: AAI21813.1. BC121817 mRNA. Translation: AAI21818.1.
IPI	IPI00401058. IPI00830012.
RefSeq	NP_997722.1.
UniGene	Hs.453069
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q6UX39.
Proteomic databases
PRIDE	Q6UX39.
Genome annotation databases
Ensembl	ENST00000339336; ENSP00000341013; ENSG00000187689; Homo sapiens. [Genome view]
GeneID	401138.
KEGG	hsa:401138.
NMPDR	fig|9606.3.peg.24210.
UCSC	uc003hfk.1. human. uc010ihy.1. human.
Organism-specific databases
CTD	401138.
GeneCards	GC04P071419.
H-InvDB	HIX0031413.
HGNC	HGNC:33188. AMTN.
MIM	610912. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG126577.
HOVERGEN	Q6UX39.
InParanoid	Q6UX39.
OMA	QQPNQVF.
OrthoDB	EOG922D5C.
Gene expression databases
Bgee	Q6UX39.
CleanEx	HS_AMTN.
Genevestigator	Q6UX39.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	106549.
SOURCE	Search...

Entry information

Entry name

AMTN_HUMAN

Accession

Primary (citable) accession number: Q6UX39
Secondary accession number(s): Q0P503, Q0P506

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 23, 2004
Last sequence update:	July 5, 2004
Last modified:	December 15, 2009
This is version 46 of the entry and version 1 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.