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Protein

Ameloblastin

Gene

AMBN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Involved in the mineralization and structural organization of enamel.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Biomineralization

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

HGNCiHGNC:452. AMBN.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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

MalaCardsiAMBN.
MIMi616270. phenotype.
Orphaneti100031. Hypoplastic amelogenesis imperfecta.
PharmGKBiPA24758.

Polymorphism and mutation databases

BioMutaiAMBN.
DMDMi23813668.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence analysisAdd
BLAST
Chaini27 – 447421AmeloblastinPRO_0000001192Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei37 – 371HydroxyprolineBy similarity
Modified residuei43 – 431PhosphoserineBy similarity
Glycosylationi112 – 1121O-linked (GalNAc...)By similarity

Keywords - PTMi

Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

PaxDbiQ9NP70.
PRIDEiQ9NP70.

PTM databases

iPTMnetiQ9NP70.
PhosphoSiteiQ9NP70.

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106756. 2 interactions.
STRINGi9606.ENSP00000313809.

Structurei

3D structure databases

ProteinModelPortaliQ9NP70.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati189 – 201131Add
BLAST
Repeati202 – 214132Add
BLAST

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

InterProiIPR007798. Amelin.
[Graphical view]
PANTHERiPTHR14115. PTHR14115. 1 hit.
PfamiPF05111. Amelin. 2 hits.
[Graphical view]
SMARTiSM00817. Amelin. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti159 – 1591E → K in AAG35772 (PubMed:10946765).Curated
Sequence conflicti159 – 1591E → K in AAG27036 (PubMed:11330937).Curated
Sequence conflicti166 – 1661Q → R in AAG35772 (PubMed:10946765).Curated
Sequence conflicti166 – 1661Q → R in AAG27036 (PubMed:11330937).Curated
Sequence conflicti180 – 1801G → R in AAG35772 (PubMed:10946765).Curated
Sequence conflicti180 – 1801G → R in AAG27036 (PubMed:11330937).Curated
Sequence conflicti355 – 3573ALP → VFL in AAG35772 (PubMed:10946765).Curated
Sequence conflicti367 – 3671S → D in AAG35772 (PubMed:10946765).Curated
Sequence conflicti383 – 3831A → V in AAG35772 (PubMed:10946765).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111M → T in ameloblastoma. 1 Publication
VAR_014066
Natural varianti255 – 2551A → V.
Corresponds to variant rs7439186 [ dbSNP | Ensembl ].
VAR_048225
Natural varianti354 – 3541L → P.2 Publications
Corresponds to variant rs72654387 [ dbSNP | Ensembl ].
VAR_014067
Natural varianti396 – 3972RT → GA in an ameloblastoma sample.
VAR_014068
Natural varianti439 – 4391H → R in an ameloblastoma sample. 1 Publication
Corresponds to variant rs375426598 [ dbSNP | Ensembl ].
VAR_014069

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei99 – 11315Missing in isoform 2. 1 PublicationVSP_000224Add
BLAST

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

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.
CCDSiCCDS3543.1. [Q9NP70-1]
RefSeqiNP_057603.1. NM_016519.5. [Q9NP70-1]
UniGeneiHs.272396.

3D structure databases

ProteinModelPortaliQ9NP70.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106756. 2 interactions.
STRINGi9606.ENSP00000313809.

PTM databases

iPTMnetiQ9NP70.
PhosphoSiteiQ9NP70.

Polymorphism and mutation databases

BioMutaiAMBN.
DMDMi23813668.

Proteomic databases

PaxDbiQ9NP70.
PRIDEiQ9NP70.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi258.
GeneCardsiAMBN.
HGNCiHGNC:452. AMBN.
MalaCardsiAMBN.
MIMi601259. gene.
616270. phenotype.
neXtProtiNX_Q9NP70.
Orphaneti100031. Hypoplastic amelogenesis imperfecta.
PharmGKBiPA24758.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii258.
PROiQ9NP70.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000178522.
CleanExiHS_AMBN.
ExpressionAtlasiQ9NP70. baseline and differential.
GenevisibleiQ9NP70. HS.

Family and domain databases

InterProiIPR007798. Amelin.
[Graphical view]
PANTHERiPTHR14115. PTHR14115. 1 hit.
PfamiPF05111. Amelin. 2 hits.
[Graphical view]
SMARTiSM00817. Amelin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAMBN_HUMAN
AccessioniPrimary (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: September 7, 2016
This is version 119 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.