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Protein

Amelotin

Gene

AMTN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis.1 Publication

GO - Biological processi

Keywordsi

Biological processBiomineralization, Cell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Names & Taxonomyi

Protein namesi
Recommended name:
Amelotin
Gene namesi
Name:AMTN
ORF Names:UNQ689/PRO1329
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000187689.9
HGNCiHGNC:33188 AMTN
MIMi610912 gene
neXtProtiNX_Q6UX39

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 3B (AI3B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects.
See also OMIM:617607

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

MalaCardsiAMTN
MIMi617607 phenotype
OpenTargetsiENSG00000187689
PharmGKBiPA162376390

Polymorphism and mutation databases

BioMutaiAMTN
DMDMi55976710

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 161 PublicationAdd BLAST16
ChainiPRO_000002261317 – 209AmelotinAdd BLAST193

Post-translational modificationi

Phosphorylated by FAM20C in vitro.1 Publication
O-glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ6UX39
PRIDEiQ6UX39
ProteomicsDBi67556
67557 [Q6UX39-2]

PTM databases

iPTMnetiQ6UX39
PhosphoSitePlusiQ6UX39

Expressioni

Gene expression databases

BgeeiENSG00000187689 Expressed in 23 organ(s), highest expression level in minor salivary gland
CleanExiHS_AMTN
ExpressionAtlasiQ6UX39 baseline and differential

Organism-specific databases

HPAiHPA036136
HPA036137

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM20CQ8IXL62EBI-11892684,EBI-7147442

Protein-protein interaction databases

BioGridi134946, 11 interactors
IntActiQ6UX39, 2 interactors
STRINGi9606.ENSP00000341013

Structurei

3D structure databases

ProteinModelPortaliQ6UX39
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the amelotin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiENOG410IZHR Eukaryota
ENOG41118MN LUCA
GeneTreeiENSGT00390000006715
HOGENOMiHOG000033930
HOVERGENiHBG080837
InParanoidiQ6UX39
OMAiIPLTQML
OrthoDBiEOG091G0S5N
PhylomeDBiQ6UX39
TreeFamiTF337677

Family and domain databases

InterProiView protein in InterPro
IPR031501 Amelotin
PANTHERiPTHR36858 PTHR36858, 1 hit
PfamiView protein in Pfam
PF15757 Amelotin, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD400414 PD400414, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6UX39-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MRSTILLFCL LGSTRSLPQL KPALGLPPTK LAPDQGTLPN QQQSNQVFPS
60 70 80 90 100
LSLIPLTQML TLGPDLHLLN PAAGMTPGTQ THPLTLGGLN VQQQLHPHVL
110 120 130 140 150
PIFVTQLGAQ GTILSSEELP QIFTSLIIHS LFPGGILPTS QAGANPDVQD
160 170 180 190 200
GSLPAGGAGV NPATQGTPAG RLPTPSGTDD DFAVTTPAGI QRSTHAIEEA

TTESANGIQ
Length:209
Mass (Da):21,588
Last modified:July 5, 2004 - v1
Checksum:i5DD8991674DB8457
GO
Isoform 2 (identifier: Q6UX39-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:208
Mass (Da):21,459
Checksum:iB1CE2E87F84854B0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05066145N → S. Corresponds to variant dbSNP:rs7660807Ensembl.1
Natural variantiVAR_05066250S → P. Corresponds to variant dbSNP:rs34803339Ensembl.1
Natural variantiVAR_03579178G → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs151041998Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02391919Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358528 mRNA Translation: AAQ88892.1
BC121812 mRNA Translation: AAI21813.1
BC121817 mRNA Translation: AAI21818.1
CCDSiCCDS3542.1 [Q6UX39-1]
CCDS68716.1 [Q6UX39-2]
RefSeqiNP_001273660.1, NM_001286731.1 [Q6UX39-2]
NP_997722.1, NM_212557.3 [Q6UX39-1]
UniGeneiHs.453069

Genome annotation databases

EnsembliENST00000339336; ENSP00000341013; ENSG00000187689 [Q6UX39-1]
ENST00000504451; ENSP00000422452; ENSG00000187689 [Q6UX39-2]
GeneIDi401138
KEGGihsa:401138
UCSCiuc003hfk.3 human [Q6UX39-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMTN_HUMAN
AccessioniPrimary (citable) accession number: Q6UX39
Secondary accession number(s): Q0P503, Q0P506
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 107 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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