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UniProtKB - O75352 (MPU1_HUMAN)

Entry version 163 (02 Dec 2020)
Sequence version 2 (25 Nov 2008)
Previous versions | rss
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Protein

Mannose-P-dolichol utilization defect 1 protein

Gene

MPDU1

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

Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors.By similarity

<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 - Biological processi

Complete GO annotation on QuickGO ...

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

Biological processTransport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75352

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4687000, Defective MPDU1 causes MPDU1-CDG (CDG-1f)

<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:
Mannose-P-dolichol utilization defect 1 protein
Alternative name(s):
Suppressor of Lec15 and Lec35 glycosylation mutation homolog
Short name:
SL15
<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:MPDU1
<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:ENSG00000129255.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:7207, MPDU1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604041, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75352

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Transmembranei100 – 120HelicalSequence analysisAdd BLAST21
Transmembranei128 – 145HelicalSequence analysisAdd BLAST18
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21
Transmembranei213 – 233HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

<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

Congenital disorder of glycosylation 1F (CDG1F)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
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_02138873G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		9526

MalaCards human disease database

More...MalaCardsi		MPDU1
MIMi609180, phenotype

Open Targets

More...OpenTargetsi		ENSG00000129255

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

More...Orphaneti		79323, MPDU1-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30913

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75352, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MPDU1

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00002210342 – 247Mannose-P-dolichol utilization defect 1 proteinAdd BLAST246

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75352

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75352

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75352

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75352

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

More...PaxDbi		O75352

PeptideAtlas

More...PeptideAtlasi		O75352

PRoteomics IDEntifications database

More...PRIDEi		O75352

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49919 [O75352-1]
5083

Consortium for Top Down Proteomics

More...TopDownProteomicsi		O75352-1 [O75352-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75352

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

More...PhosphoSitePlusi		O75352

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75352

<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		ENSG00000129255, Expressed in adult mammalian kidney and 200 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75352, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75352, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000129255, Tissue enhanced (liver)

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114902, 14 interactors

Protein interaction database and analysis system

More...IntActi		O75352, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000250124

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75352, protein

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini39 – 105PQ-loop 1Add BLAST67
Domaini159 – 216PQ-loop 2Add BLAST58

<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 MPDU1 (TC 2.A.43.3) family. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3211, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153916

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_053568_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75352

Identification of Orthologs from Complete Genome Data

More...OMAi		IQSCNIP

Database of Orthologous Groups

More...OrthoDBi		895743at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75352

TreeFam database of animal gene trees

More...TreeFami		TF324895

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016817, MannP-dilichol_defect-1
IPR006603, PQ-loop_rpt

The PANTHER Classification System

More...PANTHERi		PTHR12226, PTHR12226, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04193, PQ-loop, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF023381, MannP-dilichol_defect-1p, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00679, CTNS, 2 hits

<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 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75352-1) [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
MAAEADGPLK RLLVPILLPE KCYDQLFVQW DLLHVPCLKI LLSKGLGLGI 
        60         70         80         90        100
VAGSLLVKLP QVFKILGAKS AEGLSLQSVM LELVALTGTM VYSITNNFPF 
       110        120        130        140        150
SSWGEALFLM LQTITICFLV MHYRGQTVKG VAFLACYGLV LLVLLSPLTP 
       160        170        180        190        200
LTVVTLLQAS NVPAVVVGRL LQAATNYHNG HTGQLSAITV FLLFGGSLAR 
       210        220        230        240 
IFTSIQETGD PLMAGTFVVS SLCNGLIAAQ LLFYWNAKPP HKQKKAQ
Length:247
Mass (Da):26,638
Last modified:November 25, 2008 - 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:i8C840B26F06DFD9B
GO
Isoform 2 (identifier: O75352-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     101-186: SSWGEALFLM...YHNGHTGQLS → RCRFPRLLRP...SGVSIPFSQL
     187-247: Missing.

Show »
Length:186
Mass (Da):19,752
Checksum:i5B5E26595ECF5692
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 are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QW43J3QW43_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
192Annotation score:

Annotation score:1 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>
J3QRD5J3QRD5_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
193Annotation score:

Annotation score:1 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>
J3KT75J3KT75_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
154Annotation score:

Annotation score:1 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>
J3QQZ4J3QQZ4_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
152Annotation score:

Annotation score:1 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>
J3KTK8J3KTK8_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
116Annotation score:

Annotation score:1 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>
I3L295I3L295_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
109Annotation score:

Annotation score:1 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>
J3QS48J3QS48_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
101Annotation score:

Annotation score:1 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>
I3L4E0I3L4E0_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
75Annotation score:

Annotation score:1 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>
I3L261I3L261_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
61Annotation score:

Annotation score:1 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>
I3L1D2I3L1D2_HUMAN
Mannose-P-dolichol utilization defe...
MPDU1
61Annotation score:

Annotation score:1 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>
There are more potential isoformsShow all

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 conflicti66L → R in AAC39875 (PubMed:9653160).Curated1
Sequence conflicti181H → Y in AAC39875 (PubMed:9653160).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02138873G → E in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894586EnsemblClinVar.1
Natural variantiVAR_02138974L → S in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894589EnsemblClinVar.1
Natural variantiVAR_021390119L → P in CDG1F. 1 PublicationCorresponds to variant dbSNP:rs104894587EnsemblClinVar.1
Natural variantiVAR_047757225G → S. Corresponds to variant dbSNP:rs16956808EnsemblClinVar.1
Natural variantiVAR_047758229A → T1 PublicationCorresponds to variant dbSNP:rs10852891EnsemblClinVar.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_056349101 – 186SSWGE…TGQLS → RCRFPRLLRPGPAGASLTSD ALDCSHPAPGLQCACCGGGE ASPGSHQLPQRAHRPALSHH SLPAVWGLPGPNLHFHSGVS IPFSQL in isoform 2. 1 PublicationAdd BLAST86
Alternative sequenceiVSP_056350187 – 247Missing in isoform 2. 1 PublicationAdd BLAST61

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
AF038961 mRNA Translation: AAC39875.1
AK075299 mRNA Translation: BAG52103.1
AK300083 mRNA Translation: BAG61886.1
AC016876 Genomic DNA No translation available.
FJ695203 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90161.1
BC001898 mRNA Translation: AAH01898.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11115.1 [O75352-1]

NCBI Reference Sequences

More...RefSeqi		NP_001317002.1, NM_001330073.1
NP_004861.2, NM_004870.3 [O75352-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1]
ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9526

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9526

UCSC genome browser

More...UCSCi		uc002ghw.4, human [O75352-1]

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
AF038961 mRNA Translation: AAC39875.1
AK075299 mRNA Translation: BAG52103.1
AK300083 mRNA Translation: BAG61886.1
AC016876 Genomic DNA No translation available.
FJ695203 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90161.1
BC001898 mRNA Translation: AAH01898.1
CCDSiCCDS11115.1 [O75352-1]
RefSeqiNP_001317002.1, NM_001330073.1
NP_004861.2, NM_004870.3 [O75352-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi114902, 14 interactors
IntActiO75352, 5 interactors
STRINGi9606.ENSP00000250124

PTM databases

iPTMnetiO75352
PhosphoSitePlusiO75352
SwissPalmiO75352

Polymorphism and mutation databases

BioMutaiMPDU1

Proteomic databases

EPDiO75352
jPOSTiO75352
MassIVEiO75352
MaxQBiO75352
PaxDbiO75352
PeptideAtlasiO75352
PRIDEiO75352
ProteomicsDBi49919 [O75352-1]
5083
TopDownProteomicsiO75352-1 [O75352-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12103, 96 antibodies

The DNASU plasmid repository

More...DNASUi		9526

Genome annotation databases

EnsembliENST00000250124; ENSP00000250124; ENSG00000129255 [O75352-1]
ENST00000423172; ENSP00000414071; ENSG00000129255 [O75352-2]
GeneIDi9526
KEGGihsa:9526
UCSCiuc002ghw.4, human [O75352-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9526
DisGeNETi9526
EuPathDBiHostDB:ENSG00000129255.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		MPDU1
HGNCiHGNC:7207, MPDU1
HPAiENSG00000129255, Tissue enhanced (liver)
MalaCardsiMPDU1
MIMi604041, gene
609180, phenotype
neXtProtiNX_O75352
OpenTargetsiENSG00000129255
Orphaneti79323, MPDU1-CDG
PharmGKBiPA30913

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3211, Eukaryota
GeneTreeiENSGT00940000153916
HOGENOMiCLU_053568_2_0_1
InParanoidiO75352
OMAiIQSCNIP
OrthoDBi895743at2759
PhylomeDBiO75352
TreeFamiTF324895

Enzyme and pathway databases

PathwayCommonsiO75352
ReactomeiR-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4687000, Defective MPDU1 causes MPDU1-CDG (CDG-1f)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9526, 30 hits in 846 CRISPR screens

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

More...ChiTaRSi		MPDU1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MPDU1

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

More...GenomeRNAii		9526
PharosiO75352, Tbio

Protein Ontology

More...PROi		PR:O75352
RNActiO75352, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000129255, Expressed in adult mammalian kidney and 200 other tissues
ExpressionAtlasiO75352, baseline and differential
GenevisibleiO75352, HS

Family and domain databases

InterProiView protein in InterPro
IPR016817, MannP-dilichol_defect-1
IPR006603, PQ-loop_rpt
PANTHERiPTHR12226, PTHR12226, 1 hit
PfamiView protein in Pfam
PF04193, PQ-loop, 2 hits
PIRSFiPIRSF023381, MannP-dilichol_defect-1p, 1 hit
SMARTiView protein in SMART
SM00679, CTNS, 2 hits

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 nameiMPU1_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: O75352
Secondary accession number(s): B3KQP1, B4DT74, Q9BUU8
<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 8, 2000
Last sequence update: November 25, 2008
Last modified: December 2, 2020
This is version 163 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. 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. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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