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UniProtKB - P50221 (MEOX1_HUMAN)

Entry version 179 (02 Dec 2020)
Sequence version 1 (01 Oct 1996)
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Protein

Homeobox protein MOX-1

Gene

MEOX1

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

Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome.By similarity2 Publications

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 bindingi171 – 230HomeoboxPROSITE-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 functionActivator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P50221

SIGNOR Signaling Network Open Resource

More...SIGNORi		P50221

<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 MOX-1
Alternative name(s):
Mesenchyme homeobox 1
<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:MEOX1
Synonyms:MOX1
<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 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000005102.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:7013, MEOX1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600147, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P50221

<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

Cytoplasm, 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

Klippel-Feil syndrome 2, autosomal recessive (KFS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		4222

MalaCards human disease database

More...MalaCardsi		MEOX1
MIMi214300, phenotype

Open Targets

More...OpenTargetsi		ENSG00000005102

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

More...Orphaneti		2345, Isolated Klippel-Feil syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30747

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P50221, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MEOX1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1709078

<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_00000491951 – 254Homeobox protein MOX-1Add BLAST254

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P50221

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

More...PaxDbi		P50221

PeptideAtlas

More...PeptideAtlasi		P50221

PRoteomics IDEntifications database

More...PRIDEi		P50221

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		2245
56204 [P50221-1]
56205 [P50221-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P50221

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

More...PhosphoSitePlusi		P50221

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000005102, Expressed in tendon of biceps brachii and 170 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P50221, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P50221, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000005102, Low tissue specificity

<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

P50221
With#Exp.IntAct
ACBD4 [K7EM05]3EBI-2864512,EBI-16431307
ACOT12 [Q8WYK0]3EBI-2864512,EBI-11954993
ALOX5 [P09917]3EBI-2864512,EBI-79934
ANAPC2 [Q9UJX6]3EBI-2864512,EBI-396211
APPL1 [Q9UKG1]3EBI-2864512,EBI-741243
ATG9A - isoform 3 [Q7Z3C6-3]3EBI-2864512,EBI-12006308
BANP [A0A0S2Z5G4]3EBI-2864512,EBI-16429704
BANP [B4DE54]3EBI-2864512,EBI-16429313
BANP - isoform 2 [Q8N9N5-2]3EBI-2864512,EBI-11524452
BANP - isoform 7 [Q8N9N5-7]3EBI-2864512,EBI-16429296
BNIP2 [Q12982]3EBI-2864512,EBI-752094
BYSL [Q13895]3EBI-2864512,EBI-358049
C14orf119 [Q9NWQ9]3EBI-2864512,EBI-725606
C1orf109 [Q9NX04]3EBI-2864512,EBI-8643161
C1orf50 [Q9BV19]3EBI-2864512,EBI-2874661
C2CD6 [Q53TS8]3EBI-2864512,EBI-739879
CACNB3 [P54284]3EBI-2864512,EBI-1184651
CCDC102B [Q68D86]3EBI-2864512,EBI-10171570
CCDC103 [Q8IW40]3EBI-2864512,EBI-10261970
CDC34 [P49427]3EBI-2864512,EBI-975634
CIAO1 [O76071]3EBI-2864512,EBI-725145
CIB3 [Q96Q77]3EBI-2864512,EBI-10292696
CKS1B [P61024]6EBI-2864512,EBI-456371
CNOT11 [Q9UKZ1]3EBI-2864512,EBI-2562014
CSNK2A1 [P68400]3EBI-2864512,EBI-347804
CWF19L2 [Q2TBE0]6EBI-2864512,EBI-5453285
DCX [O43602]3EBI-2864512,EBI-8646694
DCX - isoform 2 [O43602-2]3EBI-2864512,EBI-14148644
DUSP3 [P51452]3EBI-2864512,EBI-1049755
EIF4A3 [P38919]3EBI-2864512,EBI-299104
EIF4EBP1 [Q13541]3EBI-2864512,EBI-74090
EMD [P50402]3EBI-2864512,EBI-489887
FAM126B [Q8IXS8]3EBI-2864512,EBI-8787606
GCC1 [Q96CN9]3EBI-2864512,EBI-746252
GEMIN2 [O14893]3EBI-2864512,EBI-443648
GPANK1 [O95872]3EBI-2864512,EBI-751540
GYS1 [P13807]3EBI-2864512,EBI-740553
HMBOX1 [Q6NT76]3EBI-2864512,EBI-2549423
HMGB3 [O15347]3EBI-2864512,EBI-2214136
HOMER3 [Q9NSC5]3EBI-2864512,EBI-748420
HOXC8 [P31273]3EBI-2864512,EBI-1752118
INPP5J [Q15735]3EBI-2864512,EBI-10236940
KANK2 [Q63ZY3]3EBI-2864512,EBI-2556193
KCTD7 - isoform 2 [Q96MP8-2]3EBI-2864512,EBI-11954971
L3MBTL2 [Q969R5]3EBI-2864512,EBI-739909
MAPK9 [P45984]7EBI-2864512,EBI-713568
MBD3 - isoform 2 [O95983-2]3EBI-2864512,EBI-11978579
MCRS1 [Q96EZ8]3EBI-2864512,EBI-348259
MEF2A - isoform MEFA [Q02078-2]3EBI-2864512,EBI-16431401
MID1 [O15344]7EBI-2864512,EBI-2340316
MID2 - isoform 2 [Q9UJV3-2]3EBI-2864512,EBI-10172526
MKRN3 [Q13064]3EBI-2864512,EBI-2340269
MLX - isoform Beta [Q9UH92-3]3EBI-2864512,EBI-8852072
MORF4L1 [Q9UBU8]3EBI-2864512,EBI-399246
NAGK [Q9UJ70]3EBI-2864512,EBI-372578
NDOR1 [Q9UHB4]3EBI-2864512,EBI-10249760
NEIL2 [Q969S2]6EBI-2864512,EBI-10281234
OSGIN1 [Q9UJX0]3EBI-2864512,EBI-9057006
PAGE3 [Q5JUK9]3EBI-2864512,EBI-10244544
PARVG [Q9HBI0]3EBI-2864512,EBI-3921217
PCP2 [Q8IVA1]3EBI-2864512,EBI-12250122
PDE4C - isoform PDE4C2 [Q08493-2]3EBI-2864512,EBI-12169289
PELI2 [Q9HAT8]3EBI-2864512,EBI-448407
PIN1 [Q13526]3EBI-2864512,EBI-714158
PLCD4 [Q9BRC7]3EBI-2864512,EBI-748799
PM20D2 [Q8IYS1]3EBI-2864512,EBI-11339910
POLR3GL [Q9BT43]3EBI-2864512,EBI-2855862
PPM1F [Q6IPC0]3EBI-2864512,EBI-11993088
PRKAG1 [P54619]3EBI-2864512,EBI-1181439
QRICH1 [Q2TAL8]3EBI-2864512,EBI-2798044
RAD52 [P43351]3EBI-2864512,EBI-706448
RBM41 [Q96IZ5]3EBI-2864512,EBI-740773
RBM5 [P52756]4EBI-2864512,EBI-714003
SDCBP [O00560]3EBI-2864512,EBI-727004
SEC14L4 [Q9UDX3]3EBI-2864512,EBI-10320311
SPAG8 - isoform 2 [Q99932-2]3EBI-2864512,EBI-11959123
SPIC [Q8N5J4]3EBI-2864512,EBI-12261246
SYT17 [Q9BSW7]3EBI-2864512,EBI-745392
TCEANC [Q8N8B7]3EBI-2864512,EBI-954696
TCP11L1 [Q9NUJ3]3EBI-2864512,EBI-2555179
TEX33 - isoform 2 [O43247-2]3EBI-2864512,EBI-12093053
TRAPPC2L - isoform 2 [Q9UL33-2]3EBI-2864512,EBI-11119202
TRIM41 [Q8WV44]3EBI-2864512,EBI-725997
TRIML2 [Q8N7C3]3EBI-2864512,EBI-11059915
TRIP10 - isoform 2 [Q15642-2]3EBI-2864512,EBI-6550597
TXLNA [P40222]3EBI-2864512,EBI-359793
TXNL4B [Q9NX01]3EBI-2864512,EBI-10309345
UBE2R2 [Q712K3]6EBI-2864512,EBI-2340879
UBXN2B [Q14CS0]3EBI-2864512,EBI-1993619
UBXN7 [O94888]3EBI-2864512,EBI-1993627
UNC45A [Q9H3U1]3EBI-2864512,EBI-1048763
ZCCHC10 [Q8TBK6]3EBI-2864512,EBI-597063
ZNF410 - isoform 3 [Q86VK4-3]3EBI-2864512,EBI-11741890
A0A384ME253EBI-2864512,EBI-10211777

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110385, 104 interactors

Protein interaction database and analysis system

More...IntActi		P50221, 104 interactors

Molecular INTeraction database

More...MINTi		P50221

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000321684

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P50221, 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		P50221

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

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0489, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154018

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_081326_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P50221

Identification of Orthologs from Complete Genome Data

More...OMAi		APFSFHQ

Database of Orthologous Groups

More...OrthoDBi		1522857at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P50221

TreeFam database of animal gene trees

More...TreeFami		TF351603

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
IPR042634, MOX-1/MOX-2

The PANTHER Classification System

More...PANTHERi		PTHR24328, PTHR24328, 1 hit

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>Sequences (3)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.

This entry describes 3 <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
Isoform 1 (identifier: P50221-1) [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
MDPAASSCMR SLQPPAPVWG CLRNPHSEGN GASGLPHYPP TPFSFHQKPD 
        60         70         80         90        100
FLATATAAYP DFSASCLAAT PHSLPQEEHI FTEQHPAFPQ SPNWHFPVSD 
       110        120        130        140        150
ARRRPNSGPA GGSKEMGTSS LGLVDTTGGP GDDYGVLGST ANETEKKSSR 
       160        170        180        190        200
RRKESSDNQE NRGKPEGSSK ARKERTAFTK EQLRELEAEF AHHNYLTRLR 
       210        220        230        240        250
RYEIAVNLDL SERQVKVWFQ NRRMKWKRVK GGQPISPNGQ DPEDGDSTAS 

PSSE
Length:254
Mass (Da):27,997
Last modified:October 1, 1996 - 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:iA53724BF77C02166
GO
Isoform 2 (identifier: P50221-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-254: DNQENRGKPE...GDSTASPSSE → GQSVVPEPKDEVEACEGRSAHLPQWAGP

Show »
Length:184
Mass (Da):19,557
Checksum:i59096E1E7C9801ED
GO
Isoform 3 (identifier: P50221-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.

Show »
Length:139
Mass (Da):15,628
Checksum:i004537165848FC9C
GO

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 conflicti69A → G in BAF83828 (PubMed:14702039).1

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_04958427S → L. Corresponds to variant dbSNP:rs9898682EnsemblClinVar.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_0467001 – 115Missing in isoform 3. CuratedAdd BLAST115
Alternative sequenceiVSP_043340157 – 254DNQEN…SPSSE → GQSVVPEPKDEVEACEGRSA HLPQWAGP in isoform 2. 1 PublicationAdd BLAST98

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
U10492 mRNA Translation: AAA19983.1
U10493 mRNA Translation: AAA19984.1
AK291139 mRNA Translation: BAF83828.1
AC004149 Genomic DNA No translation available.
AC068675 Genomic DNA No translation available.
CH471178 Genomic DNA Translation: EAW51672.1
BC069474 mRNA Translation: AAH69474.1
BC069506 mRNA Translation: AAH69506.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11466.1 [P50221-1]
CCDS11467.1 [P50221-2]
CCDS42343.1 [P50221-3]

Protein sequence database of the Protein Information Resource

More...PIRi		I38034

NCBI Reference Sequences

More...RefSeqi		NP_001035091.1, NM_001040002.1 [P50221-3]
NP_004518.1, NM_004527.3 [P50221-1]
NP_054705.1, NM_013999.3 [P50221-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000318579; ENSP00000321684; ENSG00000005102 [P50221-1]
ENST00000393661; ENSP00000377271; ENSG00000005102 [P50221-3]
ENST00000549132; ENSP00000449049; ENSG00000005102 [P50221-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4222

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4222

UCSC genome browser

More...UCSCi		uc002idz.4, human [P50221-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
U10492 mRNA Translation: AAA19983.1
U10493 mRNA Translation: AAA19984.1
AK291139 mRNA Translation: BAF83828.1
AC004149 Genomic DNA No translation available.
AC068675 Genomic DNA No translation available.
CH471178 Genomic DNA Translation: EAW51672.1
BC069474 mRNA Translation: AAH69474.1
BC069506 mRNA Translation: AAH69506.1
CCDSiCCDS11466.1 [P50221-1]
CCDS11467.1 [P50221-2]
CCDS42343.1 [P50221-3]
PIRiI38034
RefSeqiNP_001035091.1, NM_001040002.1 [P50221-3]
NP_004518.1, NM_004527.3 [P50221-1]
NP_054705.1, NM_013999.3 [P50221-2]

3D structure databases

SMRiP50221
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110385, 104 interactors
IntActiP50221, 104 interactors
MINTiP50221
STRINGi9606.ENSP00000321684

PTM databases

iPTMnetiP50221
PhosphoSitePlusiP50221

Polymorphism and mutation databases

BioMutaiMEOX1
DMDMi1709078

Proteomic databases

MassIVEiP50221
PaxDbiP50221
PeptideAtlasiP50221
PRIDEiP50221
ProteomicsDBi2245
56204 [P50221-1]
56205 [P50221-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17286, 382 antibodies

The DNASU plasmid repository

More...DNASUi		4222

Genome annotation databases

EnsembliENST00000318579; ENSP00000321684; ENSG00000005102 [P50221-1]
ENST00000393661; ENSP00000377271; ENSG00000005102 [P50221-3]
ENST00000549132; ENSP00000449049; ENSG00000005102 [P50221-2]
GeneIDi4222
KEGGihsa:4222
UCSCiuc002idz.4, human [P50221-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4222
DisGeNETi4222
EuPathDBiHostDB:ENSG00000005102.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		MEOX1
HGNCiHGNC:7013, MEOX1
HPAiENSG00000005102, Low tissue specificity
MalaCardsiMEOX1
MIMi214300, phenotype
600147, gene
neXtProtiNX_P50221
OpenTargetsiENSG00000005102
Orphaneti2345, Isolated Klippel-Feil syndrome
PharmGKBiPA30747

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0489, Eukaryota
GeneTreeiENSGT00940000154018
HOGENOMiCLU_081326_1_0_1
InParanoidiP50221
OMAiAPFSFHQ
OrthoDBi1522857at2759
PhylomeDBiP50221
TreeFamiTF351603

Enzyme and pathway databases

PathwayCommonsiP50221
SIGNORiP50221

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4222, 4 hits in 866 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MEOX1

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

More...GenomeRNAii		4222
PharosiP50221, Tbio

Protein Ontology

More...PROi		PR:P50221
RNActiP50221, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000005102, Expressed in tendon of biceps brachii and 170 other tissues
ExpressionAtlasiP50221, baseline and differential
GenevisibleiP50221, 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
IPR042634, MOX-1/MOX-2
PANTHERiPTHR24328, PTHR24328, 1 hit
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 nameiMEOX1_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: P50221
Secondary accession number(s): A8K524, A8MWF9, Q15069
<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 1, 1996
Last sequence update: October 1, 1996
Last modified: December 2, 2020
This is version 179 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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