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Protein

Ameloblastin

Gene

AMBN

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

Functioni

Involved in the mineralization and structural organization of enamel.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processBiomineralization

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:
Ameloblastin
Gene namesi
Name:AMBN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000178522.14
HGNCiHGNC:452 AMBN
MIMi601259 gene
neXtProtiNX_Q9NP70

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

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 1F (AI1F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.
See also OMIM:616270

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

DisGeNETi258
MalaCardsiAMBN
MIMi616270 phenotype
OpenTargetsiENSG00000178522
Orphaneti100031 Hypoplastic amelogenesis imperfecta
PharmGKBiPA24758

Polymorphism and mutation databases

BioMutaiAMBN
DMDMi23813668

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000119227 – 447AmeloblastinAdd BLAST421

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei37HydroxyprolineBy similarity1
Modified residuei43PhosphoserineBy similarity1
Glycosylationi112O-linked (GalNAc...) serineBy similarity1

Keywords - PTMi

Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

PaxDbiQ9NP70
PRIDEiQ9NP70
ProteomicsDBi81898
81899 [Q9NP70-2]

PTM databases

iPTMnetiQ9NP70
PhosphoSitePlusiQ9NP70

Expressioni

Tissue specificityi

Ameloblast-specific. Located at the Tomes processes of secretory ameloblasts and in the sheath space between rod-interrod enamel.

Gene expression databases

BgeeiENSG00000178522
CleanExiHS_AMBN
ExpressionAtlasiQ9NP70 baseline and differential
GenevisibleiQ9NP70 HS

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM20CQ8IXL62EBI-11893530,EBI-7147442

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106756, 2 interactors
IntActiQ9NP70, 3 interactors
STRINGi9606.ENSP00000313809

Structurei

3D structure databases

ProteinModelPortaliQ9NP70
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati189 – 2011Add BLAST13
Repeati202 – 2142Add BLAST13

Sequence similaritiesi

Belongs to the ameloblastin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IMU1 Eukaryota
ENOG41128SS LUCA
GeneTreeiENSGT00390000018227
HOGENOMiHOG000033918
HOVERGENiHBG007128
InParanoidiQ9NP70
OMAiWMHGLLP
OrthoDBiEOG091G0EPP
PhylomeDBiQ9NP70
TreeFamiTF337860

Family and domain databases

InterProiView protein in InterPro
IPR007798 Amelin
PANTHERiPTHR14115 PTHR14115, 1 hit
PfamiView protein in Pfam
PF05111 Amelin, 2 hits
SMARTiView protein in SMART
SM00817 Amelin, 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: Q9NP70-1) [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
MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL
60 70 80 90 100
GSLQRLNTLS QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQYE
110 120 130 140 150
YSLPVHPPPL PSQPSLKPQQ PGLKPFLQSA AATTNQATAL KEALQPPIHL
160 170 180 190 200
GHLPLQEGEL PLVQQQVAPS DKPPKPELPG VDFADPQGPS LPGMDFPDPQ
210 220 230 240 250
GPSLPGLDFA DPQGSTIFQI ARLISHGPMP QNKQSPLYPG MLYVPFGANQ
260 270 280 290 300
LNAPARLGIM SSEEVAGGRE DPMAYGAMFP GFGGMRPGFE GMPHNPAMGG
310 320 330 340 350
DFTLEFDSPV AATKGPENEE GGAQGSPMPE ANPDNLENPA FLTELEPAPH
360 370 380 390 400
AGLLALPKDD IPGLPRSPSG KMKGLPSVTP AAADPLMTPE LADVYRTYDA
410 420 430 440
DMTTSVDFQE EATMDTTMAP NSLQTSMPGN KAQEPEMMHD AWHFQEP
Length:447
Mass (Da):48,283
Last modified:October 1, 2000 - v1
Checksum:iD5CAFAA76B55758C
GO
Isoform 2 (identifier: Q9NP70-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-113: Missing.

Show »
Length:432
Mass (Da):46,577
Checksum:iAC3E4A011F13C92D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti159E → K in AAG35772 (PubMed:10946765).Curated1
Sequence conflicti159E → K in AAG27036 (PubMed:11330937).Curated1
Sequence conflicti166Q → R in AAG35772 (PubMed:10946765).Curated1
Sequence conflicti166Q → R in AAG27036 (PubMed:11330937).Curated1
Sequence conflicti180G → R in AAG35772 (PubMed:10946765).Curated1
Sequence conflicti180G → R in AAG27036 (PubMed:11330937).Curated1
Sequence conflicti355 – 357ALP → VFL in AAG35772 (PubMed:10946765).Curated3
Sequence conflicti367S → D in AAG35772 (PubMed:10946765).Curated1
Sequence conflicti383A → V in AAG35772 (PubMed:10946765).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01406611M → T in ameloblastoma. 1 Publication1
Natural variantiVAR_048225255A → V. Corresponds to variant dbSNP:rs7439186Ensembl.1
Natural variantiVAR_014067354L → P2 PublicationsCorresponds to variant dbSNP:rs72654387Ensembl.1
Natural variantiVAR_014068396 – 397RT → GA in an ameloblastoma sample. 2
Natural variantiVAR_014069439H → R in an ameloblastoma sample. 1 PublicationCorresponds to variant dbSNP:rs375426598Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00022499 – 113Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF263464 mRNA Translation: AAF73048.1
AF219994 mRNA Translation: AAF37355.1
AF209780 mRNA Translation: AAG35772.1
AY009124
, AY009116, AY009117, AY009118, AY009119, AY009120, AY009121, AY009122, AY009123 Genomic DNA Translation: AAG27036.1
BC106931 mRNA Translation: AAI06932.1
CCDSiCCDS3543.1 [Q9NP70-1]
RefSeqiNP_057603.1, NM_016519.5 [Q9NP70-1]
UniGeneiHs.272396

Genome annotation databases

EnsembliENST00000322937; ENSP00000313809; ENSG00000178522 [Q9NP70-1]
ENST00000449493; ENSP00000391234; ENSG00000178522 [Q9NP70-2]
GeneIDi258
KEGGihsa:258
UCSCiuc003hfl.4 human [Q9NP70-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMBN_HUMAN
AccessioniPrimary (citable) accession number: Q9NP70
Secondary accession number(s): Q3B862, Q9H2X1, Q9H4L1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 129 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, Reference proteome

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