Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q9NP70 (AMBN_HUMAN)

Entry version 147 (10 Feb 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
Add a publicationFeedback
Protein

Ameloblastin

Gene

AMBN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the mineralization and structural organization of enamel.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processBiomineralization

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NP70

Reactome - a knowledgebase of biological pathways and processes

More...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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ameloblastin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AMBN
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:452, AMBN

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601259, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NP70

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000178522.14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Amelogenesis imperfecta 1F (AI1F)1 Publication
The disease is caused by variants 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 OMIM

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

DisGeNET

More...DisGeNETi		258

MalaCards human disease database

More...MalaCardsi		AMBN
MIMi616270, phenotype

Open Targets

More...OpenTargetsi		ENSG00000178522

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		100031, Hypoplastic amelogenesis imperfecta

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24758

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NP70, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AMBN

Domain mapping of disease mutations (DMDM)

More...DMDMi		23813668

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 26Sequence analysisAdd BLAST26
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000119227 – 447AmeloblastinAdd BLAST421

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei37HydroxyprolineBy similarity1
Modified residuei43PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi112O-linked (GalNAc...) serineBy similarity1

Keywords - PTMi

Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NP70

PeptideAtlas

More...PeptideAtlasi		Q9NP70

PRoteomics IDEntifications database

More...PRIDEi		Q9NP70

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81898 [Q9NP70-1]
81899 [Q9NP70-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9NP70, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NP70

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NP70

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000178522, Expressed in caudate nucleus and 31 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NP70, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NP70, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000178522, Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106756, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q9NP70, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000313809

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NP70, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati189 – 2011Add BLAST13
Repeati202 – 2142Add BLAST13

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ameloblastin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QWCP, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018227

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NP70

Identification of Orthologs from Complete Genome Data

More...OMAi		AQEPEMM

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NP70

TreeFam database of animal gene trees

More...TreeFami		TF337860

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007798, Amelin

The PANTHER Classification System

More...PANTHERi		PTHR14115, PTHR14115, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05111, Amelin, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00817, Amelin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WV21A0A087WV21_HUMAN
Ameloblastin
AMBN
446Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00022499 – 113Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF263464 mRNA Translation: AAF73048.1
AF219994 mRNA Translation: AAF37355.1
AF209780 mRNA Translation: AAG35772.1
AY009124 AY009123 Genomic DNA Translation: AAG27036.1
BC106931 mRNA Translation: AAI06932.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3543.1 [Q9NP70-1]

NCBI Reference Sequences

More...RefSeqi		NP_057603.1, NM_016519.5 [Q9NP70-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000322937; ENSP00000313809; ENSG00000178522 [Q9NP70-1]
ENST00000449493; ENSP00000391234; ENSG00000178522 [Q9NP70-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		258

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:258

UCSC genome browser

More...UCSCi		uc003hfl.4, human [Q9NP70-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 AY009123 Genomic DNA Translation: AAG27036.1
BC106931 mRNA Translation: AAI06932.1
CCDSiCCDS3543.1 [Q9NP70-1]
RefSeqiNP_057603.1, NM_016519.5 [Q9NP70-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi106756, 3 interactors
IntActiQ9NP70, 12 interactors
STRINGi9606.ENSP00000313809

PTM databases

GlyGeniQ9NP70, 1 site
iPTMnetiQ9NP70
PhosphoSitePlusiQ9NP70

Genetic variation databases

BioMutaiAMBN
DMDMi23813668

Proteomic databases

PaxDbiQ9NP70
PeptideAtlasiQ9NP70
PRIDEiQ9NP70
ProteomicsDBi81898 [Q9NP70-1]
81899 [Q9NP70-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24340, 118 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		258
DisGeNETi258

GeneCards: human genes, protein and diseases

More...GeneCardsi		AMBN
HGNCiHGNC:452, AMBN
HPAiENSG00000178522, Tissue enriched (brain)
MalaCardsiAMBN
MIMi601259, gene
616270, phenotype
neXtProtiNX_Q9NP70
OpenTargetsiENSG00000178522
Orphaneti100031, Hypoplastic amelogenesis imperfecta
PharmGKBiPA24758
VEuPathDBiHostDB:ENSG00000178522.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QWCP, Eukaryota
GeneTreeiENSGT00390000018227
InParanoidiQ9NP70
OMAiAQEPEMM
PhylomeDBiQ9NP70
TreeFamiTF337860

Enzyme and pathway databases

PathwayCommonsiQ9NP70
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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		258, 4 hits in 866 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		258
PharosiQ9NP70, Tbio

Protein Ontology

More...PROi		PR:Q9NP70
RNActiQ9NP70, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000178522, Expressed in caudate nucleus and 31 other tissues
ExpressionAtlasiQ9NP70, baseline and differential
GenevisibleiQ9NP70, HS

Family and domain databases

InterProiView protein in InterPro
IPR007798, Amelin
PANTHERiPTHR14115, PTHR14115, 1 hit
PfamiView protein in Pfam
PF05111, Amelin, 1 hit
SMARTiView protein in SMART
SM00817, Amelin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAMBN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NP70
Secondary accession number(s): Q3B862, Q9H2X1, Q9H4L1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 1, 2000
Last modified: February 10, 2021
This is version 147 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again