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UniProtKB - P28360 (MSX1_HUMAN)

Entry version 215 (02 Dec 2020)
Sequence version 3 (13 Nov 2013)
Previous versions | rss
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Protein

Homeobox protein MSX-1

Gene

MSX1

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

Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.2 Publications

Caution

It is uncertain whether Met-1 or Met-7 is the initiator.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi172 – 231HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P28360

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P28360

SIGNOR Signaling Network Open Resource

More...SIGNORi		P28360

<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:
Homeobox protein MSX-1
Alternative name(s):
Homeobox protein Hox-7
Msh homeobox 1-like protein
<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:MSX1
Synonyms:HOX7
<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

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000163132.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:7391, MSX1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		142983, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P28360

<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

Nucleus

<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

Tooth agenesis, selective, 1 (STHAG1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients.
Related information in OMIM
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_01571267M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar.1
MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.1 Publication
Ectodermal dysplasia 3, Witkop type (ECTD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.
Related information in OMIM
Non-syndromic orofacial cleft 5 (OFC5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01839184E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar.1
Natural variantiVAR_01839297G → D in OFC5; cleft palate only. 1 Publication1
Natural variantiVAR_018393120V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...DisGeNETi		4487

MalaCards human disease database

More...MalaCardsi		MSX1
MIMi106600, phenotype
189500, phenotype
608874, phenotype

Open Targets

More...OpenTargetsi		ENSG00000163132

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

More...Orphaneti		141291, Cleft lip and alveolus
199306, Cleft lip/palate
2228, Hypodontia-dysplasia of nails syndrome
199302, Isolated cleft lip
2227, NON RARE IN EUROPE: Hypodontia
99798, Oligodontia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31196

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P28360, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MSX1

Domain mapping of disease mutations (DMDM)

More...DMDMi		557952603

<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 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_00000490861 – 303Homeobox protein MSX-1Add BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki133Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylated by PIAS1, desumoylated by SENP1.By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P28360

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P28360

MaxQB - The MaxQuant DataBase

More...MaxQBi		P28360

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

More...PaxDbi		P28360

PeptideAtlas

More...PeptideAtlasi		P28360

PRoteomics IDEntifications database

More...PRIDEi		P28360

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54482

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P28360

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

More...PhosphoSitePlusi		P28360

<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

Expressed in the developing nail bed mesenchyme.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163132, Expressed in endometrium and 202 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P28360, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000163132, Tissue enhanced (enhanced)

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110593, 15 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P28360

Protein interaction database and analysis system

More...IntActi		P28360, 6 interactors

Molecular INTeraction database

More...MINTi		P28360

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000372170

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P28360, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P28360

Database of comparative protein structure models

More...ModBasei		Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi35 – 42Poly-Ala8
Compositional biasi261 – 269Poly-Ala9

<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 Msh homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0492, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161623

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_072675_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P28360

Identification of Orthologs from Complete Genome Data

More...OMAi		KQERTPW

Database of Orthologous Groups

More...OrthoDBi		1226077at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P28360

TreeFam database of animal gene trees

More...TreeFami		TF350699

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00024, HOMEOBOX

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 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>Sequencei

<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.

P28360-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA 
        60         70         80         90        100
KPKVSPSLLP FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP 
       110        120        130        140        150
GSLGAPDAPS SPRPLGHFSV GGLLKLPEDA LVKAESPEKP ERTPWMQSPR 
       160        170        180        190        200
FSPPPARRLS PPACTLRKHK TNRKPRTPFT TAQLLALERK FRQKQYLSIA 
       210        220        230        240        250
ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPPAA 
       260        270        280        290        300
FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY 

HLT
Length:303
Mass (Da):31,496
Last modified:November 13, 2013 - v3
<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:i1B5F01B35920E64F
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA52683 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAA58665 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH67353 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAL17870 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence ABK81117 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAF83325 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti28G → D in BAF83325 (PubMed:14702039).Curated1
Sequence conflicti45A → T in AAA58665 (PubMed:1284527).Curated1
Sequence conflicti97 – 99GVP → ASR in AAA58665 (PubMed:1284527).Curated3
Sequence conflicti146M → T in BAF83325 (PubMed:14702039).Curated1
Sequence conflicti222N → S in BAF83325 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01571267M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar.1
Natural variantiVAR_01839184E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar.1
Natural variantiVAR_01839297G → D in OFC5; cleft palate only. 1 Publication1
Natural variantiVAR_018393120V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar.1

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
M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation.
M97676 mRNA Translation: AAA52683.1 Different initiation.
AF426432 Genomic DNA Translation: AAL17870.1 Different initiation.
AK290636 mRNA Translation: BAF83325.1 Different initiation.
AC092437 Genomic DNA No translation available.
BC021285 mRNA Translation: AAH21285.4
BC067353 mRNA Translation: AAH67353.1 Different initiation.
EF065625 Genomic DNA Translation: ABK81117.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3378.2

Protein sequence database of the Protein Information Resource

More...PIRi		A40560
I54320

NCBI Reference Sequences

More...RefSeqi		NP_002439.2, NM_002448.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000382723; ENSP00000372170; ENSG00000163132

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4487

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4487

UCSC genome browser

More...UCSCi		uc003gif.4, human

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation.
M97676 mRNA Translation: AAA52683.1 Different initiation.
AF426432 Genomic DNA Translation: AAL17870.1 Different initiation.
AK290636 mRNA Translation: BAF83325.1 Different initiation.
AC092437 Genomic DNA No translation available.
BC021285 mRNA Translation: AAH21285.4
BC067353 mRNA Translation: AAH67353.1 Different initiation.
EF065625 Genomic DNA Translation: ABK81117.1 Different initiation.
CCDSiCCDS3378.2
PIRiA40560
I54320
RefSeqiNP_002439.2, NM_002448.3

3D structure databases

SMRiP28360
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110593, 15 interactors
CORUMiP28360
IntActiP28360, 6 interactors
MINTiP28360
STRINGi9606.ENSP00000372170

PTM databases

iPTMnetiP28360
PhosphoSitePlusiP28360

Polymorphism and mutation databases

BioMutaiMSX1
DMDMi557952603

Proteomic databases

jPOSTiP28360
MassIVEiP28360
MaxQBiP28360
PaxDbiP28360
PeptideAtlasiP28360
PRIDEiP28360
ProteomicsDBi54482

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		9270, 370 antibodies

Genome annotation databases

EnsembliENST00000382723; ENSP00000372170; ENSG00000163132
GeneIDi4487
KEGGihsa:4487
UCSCiuc003gif.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4487
DisGeNETi4487
EuPathDBiHostDB:ENSG00000163132.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		MSX1
HGNCiHGNC:7391, MSX1
HPAiENSG00000163132, Tissue enhanced (enhanced)
MalaCardsiMSX1
MIMi106600, phenotype
142983, gene
189500, phenotype
608874, phenotype
neXtProtiNX_P28360
OpenTargetsiENSG00000163132
Orphaneti141291, Cleft lip and alveolus
199306, Cleft lip/palate
2228, Hypodontia-dysplasia of nails syndrome
199302, Isolated cleft lip
2227, NON RARE IN EUROPE: Hypodontia
99798, Oligodontia
PharmGKBiPA31196

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0492, Eukaryota
GeneTreeiENSGT00940000161623
HOGENOMiCLU_072675_1_0_1
InParanoidiP28360
OMAiKQERTPW
OrthoDBi1226077at2759
PhylomeDBiP28360
TreeFamiTF350699

Enzyme and pathway databases

PathwayCommonsiP28360
SignaLinkiP28360
SIGNORiP28360

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4487, 8 hits in 869 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MSX1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MSX1

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

More...GenomeRNAii		4487
PharosiP28360, Tbio

Protein Ontology

More...PROi		PR:P28360
RNActiP28360, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163132, Expressed in endometrium and 202 other tissues
GenevisibleiP28360, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057, Homeobox-like_sf
IPR017970, Homeobox_CS
IPR001356, Homeobox_dom
IPR020479, Homeobox_metazoa
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
PRINTSiPR00024, HOMEOBOX
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027, HOMEOBOX_1, 1 hit
PS50071, HOMEOBOX_2, 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 nameiMSX1_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: P28360
Secondary accession number(s): A0SZU5, A8K3M1, Q96NY4
<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: December 1, 1992
Last sequence update: November 13, 2013
Last modified: December 2, 2020
This is version 215 of the entry and version 3 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 chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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