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Entry version 160 (02 Dec 2020)
Sequence version 2 (25 Oct 2002)
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Protein

LRP chaperone MESD

Gene

MESD

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

Chaperone specifically assisting the folding of beta-propeller/EGF modules within the family of low-density lipoprotein receptors (LDLRs) (PubMed:15014448). Acts as a modulator of the Wnt pathway through chaperoning the coreceptors of the canonical Wnt pathway, LRP5 and LRP6, to the plasma membrane (PubMed:17488095). Essential for specification of embryonic polarity and mesoderm induction. Plays an essential role in neuromuscular junction (NMJ) formation by promoting cell-surface expression of LRP4 (By similarity). May regulate phagocytosis of apoptotic retinal pigment epithelium (RPE) cells (By similarity).By similarity2 Publications

<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

GO - Biological processi

<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 functionChaperone
Biological processWnt signaling pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q14696

<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:
LRP chaperone MESDCurated
Alternative name(s):
LDLR chaperone MESD
Mesoderm development LRP chaperone MESDImported
Mesoderm development candidate 2
Mesoderm development protein
Renal carcinoma antigen NY-REN-61
<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:MESDImported
Synonyms:KIAA0081, MESDC2, MESDM
ORF Names:UNQ1911/PRO4369
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 15

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

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EuPathDBi
HostDB:ENSG00000117899.10

Human Gene Nomenclature Database

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HGNCi
HGNC:13520, MESD

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607783, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q14696

<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

Endoplasmic reticulum

<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

Osteogenesis imperfecta 20 (OI20)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI20 is a progressive deforming form characterized by osteopenia, skeletal deformity, healed fractures, and newly-acquired fractures. Death due to respiratory failure can occur 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_083534226 – 234Missing in OI20. 1 Publication9

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

DisGeNET

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DisGeNETi
23184

MalaCards human disease database

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MalaCardsi
MESD
MIMi618644, phenotype

Open Targets

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OpenTargetsi
ENSG00000117899

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30761

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q14696, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MESD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
24418861

<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 – 33Sequence analysisAdd BLAST33
<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_000009644334 – 234LRP chaperone MESDAdd BLAST201

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 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>Glycosylationi201N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14696

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14696

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14696

MaxQB - The MaxQuant DataBase

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MaxQBi
Q14696

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

More...
PaxDbi
Q14696

PeptideAtlas

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PeptideAtlasi
Q14696

PRoteomics IDEntifications database

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PRIDEi
Q14696

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
5321
60136 [Q14696-1]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q14696-1 [Q14696-1]

2D gel databases

USC-OGP 2-DE database

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OGPi
Q14696

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
Q14696, 1 site

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q14696

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

More...
PhosphoSitePlusi
Q14696

<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

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Bgeei
ENSG00000117899, Expressed in layer of synovial tissue and 220 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q14696, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q14696, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000117899, 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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

Interacts with LRP5; the interaction prevents LRP5 from forming aggregates and chaperones LRP6 to the plasma membrane (PubMed:17488095).

Interacts with LRP6; the interaction prevents LRP6 from forming aggregates and chaperones LRP6 to the plasma membrane (PubMed:17488095).

Interacts with LRP4; the interaction promotes glycosylation of LRP4 and its cell-surface expression (By similarity).

By similarity1 Publication

<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

Q14696
With#Exp.IntAct
ABCG8 [Q9H221]3EBI-6165891,EBI-3908684
ABITRAM [Q9NX38]3EBI-6165891,EBI-9105722
ACBD7 [Q8N6N7]3EBI-6165891,EBI-18657673
ADAL - isoform 2 [Q6DHV7-2]3EBI-6165891,EBI-18899653
AKIRIN2 [Q53H80]3EBI-6165891,EBI-742928
AKNAD1 - isoform 2 [Q5T1N1-2]3EBI-6165891,EBI-18898519
AKT1 [P31749]3EBI-6165891,EBI-296087
ASH2L [Q9UBL3]3EBI-6165891,EBI-540797
ATP6V1E2 [Q96A05]3EBI-6165891,EBI-8650380
BORCS8 [Q96FH0]3EBI-6165891,EBI-744076
C17orf75 [Q9HAS0]3EBI-6165891,EBI-12954949
CCDC105 [Q8IYK2]3EBI-6165891,EBI-10818513
CCDC84 [Q86UT8]3EBI-6165891,EBI-11028020
CDR2L [Q86X02]3EBI-6165891,EBI-11063830
CENPH [Q9H3R5]3EBI-6165891,EBI-1003700
CHCHD1 [Q96BP2]3EBI-6165891,EBI-5454898
CLP1 [Q92989]3EBI-6165891,EBI-2559831
CNOT9 - isoform 3 [Q92600-3]3EBI-6165891,EBI-12907584
COL10A1 [Q03692]3EBI-6165891,EBI-2528309
COL1A2 [P08123]3EBI-6165891,EBI-983038
COX14 [Q96I36]3EBI-6165891,EBI-6570698
COX5A [P20674]3EBI-6165891,EBI-715032
CUTC [Q9NTM9]3EBI-6165891,EBI-714918
CYP4F11 [Q9HBI6]3EBI-6165891,EBI-3924028
DDX6 [P26196]3EBI-6165891,EBI-351257
ENKD1 [Q9H0I2]3EBI-6165891,EBI-744099
FAM13C [Q8NE31]3EBI-6165891,EBI-751248
FAM172A [Q8WUF8]3EBI-6165891,EBI-2556079
FARS2 [O95363]3EBI-6165891,EBI-2513774
FCER1A [P12319]3EBI-6165891,EBI-3908910
GEM [P55040]3EBI-6165891,EBI-744104
GOLGA7 [Q7Z5G4]3EBI-6165891,EBI-4403685
GPKOW [Q92917]3EBI-6165891,EBI-746309
GTPBP3 [Q969Y2]3EBI-6165891,EBI-740290
H2AB3 [P0C5Z0]3EBI-6165891,EBI-13318575
HSBP1L1 [C9JCN9]3EBI-6165891,EBI-2685549
IGF1 - isoform 2 [P05019-2]3EBI-6165891,EBI-12837046
LCE1A [Q5T7P2]3EBI-6165891,EBI-11962058
LY96 [Q9Y6Y9]3EBI-6165891,EBI-1539247
MAGEB4 [O15481]3EBI-6165891,EBI-751857
MAP1LC3B [Q9GZQ8]3EBI-6165891,EBI-373144
MCM9 - isoform S [Q9NXL9-3]3EBI-6165891,EBI-18899369
MELTF - isoform 2 [P08582-2]3EBI-6165891,EBI-10195914
MKNK2 - isoform 2 [Q9HBH9-2]3EBI-6165891,EBI-14141314
MRM1 [Q6IN84]3EBI-6165891,EBI-5454865
NRDE2 [Q9H7Z3]3EBI-6165891,EBI-1042642
PMF1 [Q6P1K2]3EBI-6165891,EBI-713832
QARS1 [P47897]3EBI-6165891,EBI-347462
RCOR3 - isoform 2 [Q9P2K3-2]3EBI-6165891,EBI-1504830
SIK1B [A0A0B4J2F2]3EBI-6165891,EBI-22345187
SMARCB1 - isoform B [Q12824-2]3EBI-6165891,EBI-358436
TEX12 [Q9BXU0]3EBI-6165891,EBI-12090309
TEX48 [A0A1B0GUV7]3EBI-6165891,EBI-18583507
TPM2 - isoform 2 [P07951-2]3EBI-6165891,EBI-10977815
TREX2 [Q9BQ50]3EBI-6165891,EBI-22217464
TRMT2A [Q8IZ69]3EBI-6165891,EBI-2515774
TTC21A [A0A0B4J1Y2]3EBI-6165891,EBI-10220701
TTC23 - isoform 3 [Q5W5X9-3]3EBI-6165891,EBI-9090990
TYMP [P19971]3EBI-6165891,EBI-2556931
UBQLN1 [Q9UMX0]3EBI-6165891,EBI-741480
ZNF493 - isoform 3 [Q6ZR52-3]3EBI-6165891,EBI-12856290
ZNF827 [Q17R98]3EBI-6165891,EBI-5564776
ZNF844 [Q08AG5]3EBI-6165891,EBI-10225757

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
116794, 97 interactors

Protein interaction database and analysis system

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IntActi
Q14696, 88 interactors

Molecular INTeraction database

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MINTi
Q14696

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261758

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q14696, 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

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SMRi
Q14696

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 164Chaperone domainBy similarityAdd BLAST164
Regioni165 – 204Escort domainBy similarityAdd BLAST40

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi231 – 234Prevents secretion from ER4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The chaperone domain provides a folding template for proper folding of the beta-propeller (BP) domains of LRP5/6.By similarity
The escort domain ensures LRP5/6 safe-trafficking from the ER to the Golgi by preventing premature ligand-binding.By similarity

<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 MESD family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4357, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000993

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_111621_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q14696

Identification of Orthologs from Complete Genome Data

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OMAi
WRDKDIR

Database of Orthologous Groups

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OrthoDBi
1590303at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q14696

TreeFam database of animal gene trees

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TreeFami
TF315614

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019330, MESD

The PANTHER Classification System

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PANTHERi
PTHR17600, PTHR17600, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10185, Mesd, 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: Q14696-1) [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
MAASRWARKA VVLLCASDLL LLLLLLPPPG SCAAEGSPGT PDESTPPPRK
60 70 80 90 100
KKKDIRDYND ADMARLLEQW EKDDDIEEGD LPEHKRPSAP VDFSKIDPSK
110 120 130 140 150
PESILKMTKK GKTLMMFVTV SGSPTEKETE EITSLWQGSL FNANYDVQRF
160 170 180 190 200
IVGSDRAIFM LRDGSYAWEI KDFLVGQDRC ADVTLEGQVY PGKGGGSKEK
210 220 230
NKTKQDKGKK KKEGDLKSRS SKEENRAGNK REDL
Length:234
Mass (Da):26,077
Last modified:October 25, 2002 - v2
<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:i7F0D796A3CC4E339
GO
Isoform 2 (identifier: Q14696-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     72-138: KDDDIEEGDL...TEEITSLWQG → TPEPLPVLPE...WLPHRGGELK
     139-234: Missing.

Show »
Length:138
Mass (Da):14,895
Checksum:iC4035DB3367BEA7F
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
H0YLI4H0YLI4_HUMAN
LDLR chaperone MESD
MESD
80Annotation 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>

<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 BAA07640 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083534226 – 234Missing in OI20. 1 Publication9

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_05549272 – 138KDDDI…SLWQG → TPEPLPVLPEVPSTCACLSS ASLIWTCFSHLSPHALVKRV WPPAKQGLGGKESPASAWLP HRGGELK in isoform 2. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_055493139 – 234Missing in isoform 2. 1 PublicationAdd BLAST96

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D42039 mRNA Translation: BAA07640.2 Different initiation.
AY359110 mRNA Translation: AAQ89468.1
AK301416 mRNA Translation: BAG62946.1
AC027808 Genomic DNA No translation available.
AC068870 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99109.1
CH471136 Genomic DNA Translation: EAW99110.1
BC009210 mRNA Translation: AAH09210.1
BC012746 mRNA Translation: AAH12746.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS32308.1 [Q14696-1]

NCBI Reference Sequences

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RefSeqi
NP_055969.1, NM_015154.2 [Q14696-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000261758; ENSP00000261758; ENSG00000117899 [Q14696-1]
ENST00000422879; ENSP00000403839; ENSG00000117899 [Q14696-2]
ENST00000561312; ENSP00000453430; ENSG00000117899 [Q14696-1]
ENST00000619987; ENSP00000482455; ENSG00000117899 [Q14696-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23184

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23184

UCSC genome browser

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UCSCi
uc002bfy.2, human [Q14696-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D42039 mRNA Translation: BAA07640.2 Different initiation.
AY359110 mRNA Translation: AAQ89468.1
AK301416 mRNA Translation: BAG62946.1
AC027808 Genomic DNA No translation available.
AC068870 Genomic DNA No translation available.
CH471136 Genomic DNA Translation: EAW99109.1
CH471136 Genomic DNA Translation: EAW99110.1
BC009210 mRNA Translation: AAH09210.1
BC012746 mRNA Translation: AAH12746.1
CCDSiCCDS32308.1 [Q14696-1]
RefSeqiNP_055969.1, NM_015154.2 [Q14696-1]

3D structure databases

SMRiQ14696
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116794, 97 interactors
IntActiQ14696, 88 interactors
MINTiQ14696
STRINGi9606.ENSP00000261758

PTM databases

GlyGeniQ14696, 1 site
iPTMnetiQ14696
PhosphoSitePlusiQ14696

Polymorphism and mutation databases

BioMutaiMESD
DMDMi24418861

2D gel databases

OGPiQ14696

Proteomic databases

EPDiQ14696
jPOSTiQ14696
MassIVEiQ14696
MaxQBiQ14696
PaxDbiQ14696
PeptideAtlasiQ14696
PRIDEiQ14696
ProteomicsDBi5321
60136 [Q14696-1]
TopDownProteomicsiQ14696-1 [Q14696-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q14696, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

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Antibodypediai
27911, 174 antibodies

Genome annotation databases

EnsembliENST00000261758; ENSP00000261758; ENSG00000117899 [Q14696-1]
ENST00000422879; ENSP00000403839; ENSG00000117899 [Q14696-2]
ENST00000561312; ENSP00000453430; ENSG00000117899 [Q14696-1]
ENST00000619987; ENSP00000482455; ENSG00000117899 [Q14696-1]
GeneIDi23184
KEGGihsa:23184
UCSCiuc002bfy.2, human [Q14696-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23184
DisGeNETi23184
EuPathDBiHostDB:ENSG00000117899.10

GeneCards: human genes, protein and diseases

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GeneCardsi
MESD
HGNCiHGNC:13520, MESD
HPAiENSG00000117899, Low tissue specificity
MalaCardsiMESD
MIMi607783, gene
618644, phenotype
neXtProtiNX_Q14696
OpenTargetsiENSG00000117899
PharmGKBiPA30761

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4357, Eukaryota
GeneTreeiENSGT00390000000993
HOGENOMiCLU_111621_0_0_1
InParanoidiQ14696
OMAiWRDKDIR
OrthoDBi1590303at2759
PhylomeDBiQ14696
TreeFamiTF315614

Enzyme and pathway databases

PathwayCommonsiQ14696

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
23184, 60 hits in 842 CRISPR screens

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

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ChiTaRSi
MESDC2, human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MESDC2

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

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GenomeRNAii
23184
PharosiQ14696, Tbio

Protein Ontology

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PROi
PR:Q14696
RNActiQ14696, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000117899, Expressed in layer of synovial tissue and 220 other tissues
ExpressionAtlasiQ14696, baseline and differential
GenevisibleiQ14696, HS

Family and domain databases

InterProiView protein in InterPro
IPR019330, MESD
PANTHERiPTHR17600, PTHR17600, 1 hit
PfamiView protein in Pfam
PF10185, Mesd, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiMESD_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: Q14696
Secondary accession number(s): B4DW84, D3DW96, Q969U1
<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: July 15, 1998
Last sequence update: October 25, 2002
Last modified: December 2, 2020
This is version 160 of the entry and version 2 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: 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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