UniProtKB - Q9NP70 (AMBN_HUMAN)
Protein
Ameloblastin
Gene
AMBN
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the mineralization and structural organization of enamel.
GO - Molecular functioni
- growth factor activity Source: BHF-UCL
- structural constituent of tooth enamel Source: InterPro
GO - Biological processi
- biomineral tissue development Source: UniProtKB-KW
- cell adhesion Source: BHF-UCL
- cellular protein metabolic process Source: Reactome
- odontogenesis of dentin-containing tooth Source: InterPro
- post-translational protein modification Source: Reactome
- regulation of cell population proliferation Source: BHF-UCL
Keywordsi
Biological process | Biomineralization |
Enzyme and pathway databases
PathwayCommonsi | Q9NP70 |
Reactomei | R-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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000178522.14 |
HGNCi | HGNC:452, AMBN |
MIMi | 601259, gene |
neXtProti | NX_Q9NP70 |
Subcellular locationi
Extracellular region or secreted
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & 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.
Related information in OMIMKeywords - Diseasei
Amelogenesis imperfectaOrganism-specific databases
DisGeNETi | 258 |
MalaCardsi | AMBN |
MIMi | 616270, phenotype |
OpenTargetsi | ENSG00000178522 |
Orphaneti | 100031, Hypoplastic amelogenesis imperfecta |
PharmGKBi | PA24758 |
Miscellaneous databases
Pharosi | Q9NP70, Tbio |
Polymorphism and mutation databases
BioMutai | AMBN |
DMDMi | 23813668 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000001192 | 27 – 447 | AmeloblastinAdd BLAST | 421 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 37 | HydroxyprolineBy similarity | 1 | |
Modified residuei | 43 | PhosphoserineBy similarity | 1 | |
Glycosylationi | 112 | O-linked (GalNAc...) serineBy similarity | 1 |
Keywords - PTMi
Glycoprotein, Hydroxylation, PhosphoproteinProteomic databases
PaxDbi | Q9NP70 |
PeptideAtlasi | Q9NP70 |
PRIDEi | Q9NP70 |
ProteomicsDBi | 81898 [Q9NP70-1] 81899 [Q9NP70-2] |
PTM databases
GlyGeni | Q9NP70, 1 site |
iPTMneti | Q9NP70 |
PhosphoSitePlusi | Q9NP70 |
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
Bgeei | ENSG00000178522, Expressed in caudate nucleus and 31 other tissues |
ExpressionAtlasi | Q9NP70, baseline and differential |
Genevisiblei | Q9NP70, HS |
Organism-specific databases
HPAi | ENSG00000178522, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Hide detailsQ9NP70
With | #Exp. | IntAct |
---|---|---|
FAM20C [Q8IXL6] | 2 | EBI-11893530,EBI-7147442 |
UBQLN2 [Q9UHD9] | 3 | EBI-11893530,EBI-947187 |
GO - Molecular functioni
- growth factor activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 106756, 3 interactors |
IntActi | Q9NP70, 5 interactors |
STRINGi | 9606.ENSP00000313809 |
Miscellaneous databases
RNActi | Q9NP70, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 189 – 201 | 1Add BLAST | 13 | |
Repeati | 202 – 214 | 2Add BLAST | 13 |
Sequence similaritiesi
Belongs to the ameloblastin family.Curated
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | ENOG502QWCP, Eukaryota |
GeneTreei | ENSGT00390000018227 |
InParanoidi | Q9NP70 |
OMAi | AQEPEMM |
PhylomeDBi | Q9NP70 |
TreeFami | TF337860 |
Family and domain databases
InterProi | View protein in InterPro IPR007798, Amelin |
PANTHERi | PTHR14115, PTHR14115, 1 hit |
Pfami | View protein in Pfam PF05111, Amelin, 1 hit |
SMARTi | View protein in SMART SM00817, Amelin, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NP70-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WV21 | A0A087WV21_HUMAN | Ameloblastin | AMBN | 446 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 159 | E → K in AAG35772 (PubMed:10946765).Curated | 1 | |
Sequence conflicti | 159 | E → K in AAG27036 (PubMed:11330937).Curated | 1 | |
Sequence conflicti | 166 | Q → R in AAG35772 (PubMed:10946765).Curated | 1 | |
Sequence conflicti | 166 | Q → R in AAG27036 (PubMed:11330937).Curated | 1 | |
Sequence conflicti | 180 | G → R in AAG35772 (PubMed:10946765).Curated | 1 | |
Sequence conflicti | 180 | G → R in AAG27036 (PubMed:11330937).Curated | 1 | |
Sequence conflicti | 355 – 357 | ALP → VFL in AAG35772 (PubMed:10946765).Curated | 3 | |
Sequence conflicti | 367 | S → D in AAG35772 (PubMed:10946765).Curated | 1 | |
Sequence conflicti | 383 | A → V in AAG35772 (PubMed:10946765).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014066 | 11 | M → T in ameloblastoma. 1 Publication | 1 | |
Natural variantiVAR_048225 | 255 | A → V. Corresponds to variant dbSNP:rs7439186Ensembl. | 1 | |
Natural variantiVAR_014067 | 354 | L → P2 PublicationsCorresponds to variant dbSNP:rs72654387Ensembl. | 1 | |
Natural variantiVAR_014068 | 396 – 397 | RT → GA in an ameloblastoma sample. | 2 | |
Natural variantiVAR_014069 | 439 | H → R in an ameloblastoma sample. 1 PublicationCorresponds to variant dbSNP:rs375426598Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_000224 | 99 – 113 | Missing in isoform 2. 1 PublicationAdd BLAST | 15 |
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 |
CCDSi | CCDS3543.1 [Q9NP70-1] |
RefSeqi | NP_057603.1, NM_016519.5 [Q9NP70-1] |
Genome annotation databases
Ensembli | ENST00000322937; ENSP00000313809; ENSG00000178522 [Q9NP70-1] ENST00000449493; ENSP00000391234; ENSG00000178522 [Q9NP70-2] |
GeneIDi | 258 |
KEGGi | hsa:258 |
UCSCi | uc003hfl.4, human [Q9NP70-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
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 |
CCDSi | CCDS3543.1 [Q9NP70-1] |
RefSeqi | NP_057603.1, NM_016519.5 [Q9NP70-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 106756, 3 interactors |
IntActi | Q9NP70, 5 interactors |
STRINGi | 9606.ENSP00000313809 |
PTM databases
GlyGeni | Q9NP70, 1 site |
iPTMneti | Q9NP70 |
PhosphoSitePlusi | Q9NP70 |
Polymorphism and mutation databases
BioMutai | AMBN |
DMDMi | 23813668 |
Proteomic databases
PaxDbi | Q9NP70 |
PeptideAtlasi | Q9NP70 |
PRIDEi | Q9NP70 |
ProteomicsDBi | 81898 [Q9NP70-1] 81899 [Q9NP70-2] |
Protocols and materials databases
Antibodypediai | 24340, 117 antibodies |
Genome annotation databases
Ensembli | ENST00000322937; ENSP00000313809; ENSG00000178522 [Q9NP70-1] ENST00000449493; ENSP00000391234; ENSG00000178522 [Q9NP70-2] |
GeneIDi | 258 |
KEGGi | hsa:258 |
UCSCi | uc003hfl.4, human [Q9NP70-1] |
Organism-specific databases
CTDi | 258 |
DisGeNETi | 258 |
EuPathDBi | HostDB:ENSG00000178522.14 |
GeneCardsi | AMBN |
HGNCi | HGNC:452, AMBN |
HPAi | ENSG00000178522, Tissue enriched (brain) |
MalaCardsi | AMBN |
MIMi | 601259, gene 616270, phenotype |
neXtProti | NX_Q9NP70 |
OpenTargetsi | ENSG00000178522 |
Orphaneti | 100031, Hypoplastic amelogenesis imperfecta |
PharmGKBi | PA24758 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWCP, Eukaryota |
GeneTreei | ENSGT00390000018227 |
InParanoidi | Q9NP70 |
OMAi | AQEPEMM |
PhylomeDBi | Q9NP70 |
TreeFami | TF337860 |
Enzyme and pathway databases
PathwayCommonsi | Q9NP70 |
Reactomei | R-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 |
Miscellaneous databases
BioGRID-ORCSi | 258, 4 hits in 838 CRISPR screens |
GenomeRNAii | 258 |
Pharosi | Q9NP70, Tbio |
PROi | PR:Q9NP70 |
RNActi | Q9NP70, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178522, Expressed in caudate nucleus and 31 other tissues |
ExpressionAtlasi | Q9NP70, baseline and differential |
Genevisiblei | Q9NP70, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007798, Amelin |
PANTHERi | PTHR14115, PTHR14115, 1 hit |
Pfami | View protein in Pfam PF05111, Amelin, 1 hit |
SMARTi | View protein in SMART SM00817, Amelin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AMBN_HUMAN | |
Accessioni | Q9NP70Primary (citable) accession number: Q9NP70 Secondary accession number(s): Q3B862, Q9H2X1, Q9H4L1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 146 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations