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UniProtKB - Q9Y6A1 (POMT1_HUMAN)

Entry version 185 (07 Oct 2020)
Sequence version 3 (03 May 2011)
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Protein

Protein O-mannosyl-transferase 1

Gene

POMT1

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

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient (PubMed:12369018, PubMed:14699049, PubMed:28512129). Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins (PubMed:28512129).3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Slightly activated by Mg2+ and inhibited by both Ca+ and Mn2+. EDTA ha no effect on activity in vitro.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<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 functionGlycosyltransferase, Transferase
LigandMetal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05428-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.109, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y6A1

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5083629, Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
R-HSA-5083633, Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
R-HSA-5173105, O-linked glycosylation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT39, Glycosyltransferase Family 39

<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:
Protein O-mannosyl-transferase 1 (EC:2.4.1.1092 Publications)
Alternative name(s):
Dolichyl-phosphate-mannose--protein mannosyltransferase 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:POMT1
<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 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000130714.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:9202, POMT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607423, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y6A1

<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>Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei68 – 88HelicalSequence analysisAdd BLAST21
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Transmembranei122 – 142HelicalSequence analysisAdd BLAST21
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Transmembranei183 – 203HelicalSequence analysisAdd BLAST21
Transmembranei206 – 226HelicalSequence analysisAdd BLAST21
Transmembranei269 – 289HelicalSequence analysisAdd BLAST21
Transmembranei597 – 617HelicalSequence analysisAdd BLAST21
Transmembranei636 – 656HelicalSequence analysisAdd BLAST21
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.
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_06502765G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar.1
Natural variantiVAR_065030140Missing in MDDGB1. 1 Publication1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl.1
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01573476G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.1
Natural variantiVAR_065028105R → C in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1289335417Ensembl.1
Natural variantiVAR_065029105R → H in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1554772469Ensembl.1
Natural variantiVAR_065031207G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_022662421Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication1
Natural variantiVAR_015735428V → D in MDDGA1. 1 Publication1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.1
Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022661200A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar.1

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Limb-girdle muscular dystrophy, Lissencephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		10585

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		POMT1

MalaCards human disease database

More...MalaCardsi		POMT1
MIMi236670, phenotype
609308, phenotype
613155, phenotype

Open Targets

More...OpenTargetsi		ENSG00000130714

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

More...Orphaneti		370959, Congenital muscular dystrophy with cerebellar involvement
370968, Congenital muscular dystrophy with intellectual disability
370980, Congenital muscular dystrophy without intellectual disability
588, Muscle-eye-brain disease
86812, POMT1-related limb-girdle muscular dystrophy R11
899, Walker-Warburg syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33527

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y6A1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		POMT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		332278226

<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_00001214841 – 747Protein O-mannosyl-transferase 1Add BLAST747

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>Glycosylationi435N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi471N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi539N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y6A1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y6A1

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

More...PaxDbi		Q9Y6A1

PeptideAtlas

More...PeptideAtlasi		Q9Y6A1

PRoteomics IDEntifications database

More...PRIDEi		Q9Y6A1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86636 [Q9Y6A1-1]
86637 [Q9Y6A1-2]
86638 [Q9Y6A1-3]
86639 [Q9Y6A1-4]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9Y6A1, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y6A1

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

More...PhosphoSitePlusi		Q9Y6A1

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

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

Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130714, Expressed in right testis and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y6A1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y6A1, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130714, 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

Interacts with POMT2.

Curated

<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		115834, 41 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y6A1, 28 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361302

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y6A1, 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>Domaini318 – 381MIR 1PROSITE-ProRule annotationAdd BLAST64
Domaini392 – 449MIR 2PROSITE-ProRule annotationAdd BLAST58
Domaini453 – 513MIR 3PROSITE-ProRule annotationAdd BLAST61

<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 glycosyltransferase 39 family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3359, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158049

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008438_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y6A1

KEGG Orthology (KO)

More...KOi		K00728

Identification of Orthologs from Complete Genome Data

More...OMAi		DKGIAYW

Database of Orthologous Groups

More...OrthoDBi		203029at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y6A1

TreeFam database of animal gene trees

More...TreeFami		TF300552

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027005, GlyclTrfase_39-like
IPR003342, Glyco_trans_39/83
IPR036300, MIR_dom_sf
IPR016093, MIR_motif
IPR032421, PMT_4TMC

The PANTHER Classification System

More...PANTHERi		PTHR10050, PTHR10050, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02815, MIR, 1 hit
PF02366, PMT, 1 hit
PF16192, PMT_4TMC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00472, MIR, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF82109, SSF82109, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50919, MIR, 3 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 (4+)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 4 <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
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6A1-1) [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
MWGFLKRPVV VTADINLSLV ALTGMGLLSR LWRLTYPRAV VFDEVYYGQY 
        60         70         80         90        100
ISFYMKQIFF LDDSGPPFGH MVLALGGYLG GFDGNFLWNR IGAEYSSNVP 
       110        120        130        140        150
VWSLRLLPAL AGALSVPMAY QIVLELHFSH CAAMGAALLM LIENALITQS 
       160        170        180        190        200
RLMLLESVLI FFNLLAVLSY LKFFNCQKHS PFSLSWWFWL TLTGVACSCA 
       210        220        230        240        250
VGIKYMGVFT YVLVLGVAAV HAWHLLGDQT LSNVGADVQC CMRPACMGQM 
       260        270        280        290        300
QMSQGVCVFC HLLARAVALL VIPVVLYLLF FYVHLILVFR SGPHDQIMSS 
       310        320        330        340        350
AFQASLEGGL ARITQGQPLE VAFGSQVTLR NVFGKPVPCW LHSHQDTYPM 
       360        370        380        390        400
IYENGRGSSH QQQVTCYPFK DVNNWWIVKD PRRHQLVVSS PPRPVRHGDM 
       410        420        430        440        450
VQLVHGMTTR SLNTHDVAAP LSPHSQEVSC YIDYNISMPA QNLWRLEIVN 
       460        470        480        490        500
RGSDTDVWKT ILSEVRFVHV NTSAVLKLSG AHLPDWGYRQ LEIVGEKLSR 
       510        520        530        540        550
GYHGSTVWNV EEHRYGASQE QRERERELHS PAQVDVSRNL SFMARFSELQ 
       560        570        580        590        600
WRMLALRSDD SEHKYSSSPL EWVTLDTNIA YWLHPRTSAQ IHLLGNIVIW 
       610        620        630        640        650
VSGSLALAIY ALLSLWYLLR RRRNVHDLPQ DAWLRWVLAG ALCAGGWAVN 
       660        670        680        690        700
YLPFFLMEKT LFLYHYLPAL TFQILLLPVV LQHISDHLCR SQLQRSIFSA 
       710        720        730        740 
LVVAWYSSAC HVSNTLRPLT YGDKSLSPHE LKALRWKDSW DILIRKH
Length:747
Mass (Da):84,881
Last modified:May 3, 2011 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6E1D26C87FF5D9C5
GO
Isoform 2 (identifier: Q9Y6A1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-255: Missing.

Show »
Length:725
Mass (Da):82,567
Checksum:iB58F992ADA9DF552
GO
Isoform 3 (identifier: Q9Y6A1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-54: Missing.
     234-255: Missing.

Show »
Length:671
Mass (Da):76,294
Checksum:i51114C186E12533A
GO
Isoform 4 (identifier: Q9Y6A1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     234-255: Missing.

Show »
Length:608
Mass (Da):69,531
Checksum:i1A8B7C19BF49EBC2
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JT02Q5JT02_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
346Annotation score:

Annotation score:3 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>
Q5JT03Q5JT03_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
296Annotation 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>
Q5JT04Q5JT04_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
156Annotation 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>
Q5JT07Q5JT07_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
218Annotation 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>
Q5JSZ6Q5JSZ6_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
142Annotation 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>
Q5JT05Q5JT05_HUMAN
Dolichyl-phosphate-mannose--protein...
POMT1
168Annotation 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 BAA91135 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91190 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti37P → Q in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti143E → K in AAD41245 (PubMed:10366449).Curated1
Sequence conflicti147I → V in BAG58462 (PubMed:14702039).Curated1
Sequence conflicti178K → E in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti377I → V in AAH22877 (PubMed:15489334).Curated1
Sequence conflicti665H → L in BAC11269 (PubMed:16303743).Curated1
Sequence conflicti696 – 697SI → NS in AAD41245 (PubMed:10366449).Curated2
Sequence conflicti739S → G in BAA91135 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06502765G → R in MDDGB1. 3 PublicationsCorresponds to variant dbSNP:rs119462983EnsemblClinVar.1
Natural variantiVAR_01573476G → R in MDDGA1. 1 PublicationCorresponds to variant dbSNP:rs28941782EnsemblClinVar.1
Natural variantiVAR_065028105R → C in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1289335417Ensembl.1
Natural variantiVAR_065029105R → H in MDDGA1; severe Walker-Warburg syndrome. 1 PublicationCorresponds to variant dbSNP:rs1554772469Ensembl.1
Natural variantiVAR_065030140Missing in MDDGB1. 1 Publication1
Natural variantiVAR_022661200A → P in MDDGC1; a common founder mutation. 1 PublicationCorresponds to variant dbSNP:rs119462982EnsemblClinVar.1
Natural variantiVAR_065031207G → V in MDDGA1; severe Walker-Warburg syndrome. 1 Publication1
Natural variantiVAR_034390251Q → R2 PublicationsCorresponds to variant dbSNP:rs2296949Ensembl.1
Natural variantiVAR_034389251Q → W Requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs386738991Ensembl.1
Natural variantiVAR_065032285L → F1 PublicationCorresponds to variant dbSNP:rs201073763Ensembl.1
Natural variantiVAR_034391327V → I. Corresponds to variant dbSNP:rs4740164Ensembl.1
Natural variantiVAR_022662421Missing in MDDGA1; associated with the loss of function of alpha dystroglycan as a matrix receptor. 1 Publication1
Natural variantiVAR_015735428V → D in MDDGA1. 1 Publication1
Natural variantiVAR_034392433D → E. Corresponds to variant dbSNP:rs11243406Ensembl.1
Natural variantiVAR_065033522R → K1 PublicationCorresponds to variant dbSNP:rs117985576Ensembl.1
Natural variantiVAR_026697537S → R in MDDGA1 and MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs150367385Ensembl.1
Natural variantiVAR_065034582W → C in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462984Ensembl.1
Natural variantiVAR_065035590Q → H in MDDGB1. 2 PublicationsCorresponds to variant dbSNP:rs119462986Ensembl.1
Natural variantiVAR_065036669A → T in MDDGB1. 1 PublicationCorresponds to variant dbSNP:rs119462987Ensembl.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_0410241 – 117Missing in isoform 4. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_0075901 – 54Missing in isoform 3. 1 PublicationAdd BLAST54
Alternative sequenceiVSP_007591234 – 255Missing in isoform 2, isoform 3 and isoform 4. 4 PublicationsAdd BLAST22

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
AF095136 mRNA Translation: AAD41245.1
AF095150 AF095149 Genomic DNA Translation: AAD41246.1
AK000391 mRNA Translation: BAA91135.1 Different initiation.
AK000475 mRNA Translation: BAA91190.1 Different initiation.
AK295561 mRNA Translation: BAG58462.1
AK074874 mRNA Translation: BAG52022.1
AK074888 mRNA Translation: BAC11269.1
AL358781 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87978.1
BC022877 mRNA Translation: AAH22877.3
BC065268 mRNA Translation: AAH65268.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43894.1 [Q9Y6A1-2]
CCDS43895.1 [Q9Y6A1-3]
CCDS48045.1 [Q9Y6A1-4]
CCDS6943.1 [Q9Y6A1-1]

NCBI Reference Sequences

More...RefSeqi		NP_001070833.1, NM_001077365.1 [Q9Y6A1-2]
NP_001070834.1, NM_001077366.1 [Q9Y6A1-3]
NP_001129585.1, NM_001136113.1 [Q9Y6A1-2]
NP_001129586.1, NM_001136114.1 [Q9Y6A1-4]
NP_009102.3, NM_007171.3 [Q9Y6A1-1]
XP_005272213.1, XM_005272156.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3]
ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1]
ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2]
ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4]
ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10585

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10585

UCSC genome browser

More...UCSCi		uc004cau.4, human [Q9Y6A1-1]

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
AF095136 mRNA Translation: AAD41245.1
AF095150 AF095149 Genomic DNA Translation: AAD41246.1
AK000391 mRNA Translation: BAA91135.1 Different initiation.
AK000475 mRNA Translation: BAA91190.1 Different initiation.
AK295561 mRNA Translation: BAG58462.1
AK074874 mRNA Translation: BAG52022.1
AK074888 mRNA Translation: BAC11269.1
AL358781 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87978.1
BC022877 mRNA Translation: AAH22877.3
BC065268 mRNA Translation: AAH65268.1
CCDSiCCDS43894.1 [Q9Y6A1-2]
CCDS43895.1 [Q9Y6A1-3]
CCDS48045.1 [Q9Y6A1-4]
CCDS6943.1 [Q9Y6A1-1]
RefSeqiNP_001070833.1, NM_001077365.1 [Q9Y6A1-2]
NP_001070834.1, NM_001077366.1 [Q9Y6A1-3]
NP_001129585.1, NM_001136113.1 [Q9Y6A1-2]
NP_001129586.1, NM_001136114.1 [Q9Y6A1-4]
NP_009102.3, NM_007171.3 [Q9Y6A1-1]
XP_005272213.1, XM_005272156.1

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

BioGRIDi115834, 41 interactors
IntActiQ9Y6A1, 28 interactors
STRINGi9606.ENSP00000361302

Protein family/group databases

CAZyiGT39, Glycosyltransferase Family 39

PTM databases

GlyGeniQ9Y6A1, 3 sites
iPTMnetiQ9Y6A1
PhosphoSitePlusiQ9Y6A1

Polymorphism and mutation databases

BioMutaiPOMT1
DMDMi332278226

Proteomic databases

jPOSTiQ9Y6A1
MassIVEiQ9Y6A1
PaxDbiQ9Y6A1
PeptideAtlasiQ9Y6A1
PRIDEiQ9Y6A1
ProteomicsDBi86636 [Q9Y6A1-1]
86637 [Q9Y6A1-2]
86638 [Q9Y6A1-3]
86639 [Q9Y6A1-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31602, 177 antibodies

Genome annotation databases

EnsembliENST00000341012; ENSP00000343034; ENSG00000130714 [Q9Y6A1-3]
ENST00000372228; ENSP00000361302; ENSG00000130714 [Q9Y6A1-1]
ENST00000402686; ENSP00000385797; ENSG00000130714 [Q9Y6A1-2]
ENST00000404875; ENSP00000384531; ENSG00000130714 [Q9Y6A1-4]
ENST00000423007; ENSP00000404119; ENSG00000130714 [Q9Y6A1-2]
GeneIDi10585
KEGGihsa:10585
UCSCiuc004cau.4, human [Q9Y6A1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10585
DisGeNETi10585
EuPathDBiHostDB:ENSG00000130714.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		POMT1
GeneReviewsiPOMT1
HGNCiHGNC:9202, POMT1
HPAiENSG00000130714, Low tissue specificity
MalaCardsiPOMT1
MIMi236670, phenotype
607423, gene
609308, phenotype
613155, phenotype
neXtProtiNX_Q9Y6A1
OpenTargetsiENSG00000130714
Orphaneti370959, Congenital muscular dystrophy with cerebellar involvement
370968, Congenital muscular dystrophy with intellectual disability
370980, Congenital muscular dystrophy without intellectual disability
588, Muscle-eye-brain disease
86812, POMT1-related limb-girdle muscular dystrophy R11
899, Walker-Warburg syndrome
PharmGKBiPA33527

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3359, Eukaryota
GeneTreeiENSGT00940000158049
HOGENOMiCLU_008438_1_0_1
InParanoidiQ9Y6A1
KOiK00728
OMAiDKGIAYW
OrthoDBi203029at2759
PhylomeDBiQ9Y6A1
TreeFamiTF300552

Enzyme and pathway databases

UniPathwayiUPA00378
BioCyciMetaCyc:HS05428-MONOMER
BRENDAi2.4.1.109, 2681
PathwayCommonsiQ9Y6A1
ReactomeiR-HSA-5083629, Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2
R-HSA-5083633, Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1
R-HSA-5173105, O-linked glycosylation

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10585, 4 hits in 868 CRISPR screens

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

More...ChiTaRSi		POMT1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		POMT1

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

More...GenomeRNAii		10585
PharosiQ9Y6A1, Tbio

Protein Ontology

More...PROi		PR:Q9Y6A1
RNActiQ9Y6A1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130714, Expressed in right testis and 219 other tissues
ExpressionAtlasiQ9Y6A1, baseline and differential
GenevisibleiQ9Y6A1, HS

Family and domain databases

InterProiView protein in InterPro
IPR027005, GlyclTrfase_39-like
IPR003342, Glyco_trans_39/83
IPR036300, MIR_dom_sf
IPR016093, MIR_motif
IPR032421, PMT_4TMC
PANTHERiPTHR10050, PTHR10050, 1 hit
PfamiView protein in Pfam
PF02815, MIR, 1 hit
PF02366, PMT, 1 hit
PF16192, PMT_4TMC, 1 hit
SMARTiView protein in SMART
SM00472, MIR, 3 hits
SUPFAMiSSF82109, SSF82109, 1 hit
PROSITEiView protein in PROSITE
PS50919, MIR, 3 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 nameiPOMT1_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: Q9Y6A1
Secondary accession number(s): B3KQG0
, B4DIF0, Q5JT01, Q5JT06, Q5JT08, Q8NC91, Q8TCA9, Q9NX32, Q9NX82, Q9UNT2
<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: June 20, 2003
Last sequence update: May 3, 2011
Last modified: October 7, 2020
This is version 185 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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