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UniProtKB - Q96F25 (ALG14_HUMAN)

Protein

UDP-N-acetylglucosamine transferase subunit ALG14 homolog

Gene

ALG14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

May be involved in protein N-glycosylation. May play a role in the second step of the dolichol-linked oligosaccharide pathway. May anchor the catalytic subunit ALG13 to the ER.1 Publication

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

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-5633231 Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT1 Glycosyltransferase Family 1

<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_and_taxonomy_section">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:
UDP-N-acetylglucosamine transferase subunit ALG14 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ALG14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000172339.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:28287 ALG14

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612866 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96F25

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 3LumenalBy similarity3
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Topological domaini25 – 216CytoplasmicBy similarityAdd BLAST192

<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>Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Myasthenic syndrome, congenital, 15 (CMS15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness.
See also OMIM:616227
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_07333165P → L in CMS15; results in a severe reduction in protein expression; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882050EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		199857

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

More...GeneReviewsi		ALG14

MalaCards human disease database

More...MalaCardsi		ALG14
MIMi616227 phenotype

Open Targets

More...OpenTargetsi		ENSG00000172339

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

More...Orphaneti		353327 Congenital myasthenic syndromes with glycosylation defect

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672628

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALG14

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731649

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002651161 – 216UDP-N-acetylglucosamine transferase subunit ALG14 homologAdd BLAST216

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96F25

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96F25

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

More...PaxDbi		Q96F25

PeptideAtlas

More...PeptideAtlasi		Q96F25

PRoteomics IDEntifications database

More...PRIDEi		Q96F25

ProteomicsDB human proteome resource

More...ProteomicsDBi		76488

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96F25

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

More...PhosphoSitePlusi		Q96F25

<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		ENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

More...CleanExi		HS_ALG14

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96F25 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA031829

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer with ALG13 isoform 2 to form a functional enzyme.By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		128278, 7 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359224

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q96F25

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

<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 ALG14 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3339 Eukaryota
ENOG4111QSM LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000002579

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000182099

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG059605

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96F25

KEGG Orthology (KO)

More...KOi		K07441

Identification of Orthologs from Complete Genome Data

More...OMAi		ESICRVK

Database of Orthologous Groups

More...OrthoDBi		EOG091G0K4A

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96F25

TreeFam database of animal gene trees

More...TreeFami		TF105628

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013969 Oligosacch_biosynth_Alg14

The PANTHER Classification System

More...PANTHERi		PTHR12154 PTHR12154, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08660 Alg14, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

Q96F25-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVCVLVLAAA AGAVAVFLIL RIWVVLRSMD VTPRESLSIL VVAGSGGHTT 
        60         70         80         90        100
EILRLLGSLS NAYSPRHYVI ADTDEMSANK INSFELDRAD RDPSNMYTKY 
       110        120        130        140        150
YIHRIPRSRE VQQSWPSTVF TTLHSMWLSF PLIHRVKPDL VLCNGPGTCV 
       160        170        180        190        200
PICVSALLLG ILGIKKVIIV YVESICRVET LSMSGKILFH LSDYFIVQWP 
       210 
ALKEKYPKSV YLGRIV
Length:216
Mass (Da):24,151
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0724FEAE33A841E8
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02963514V → M. Corresponds to variant dbSNP:rs11165298EnsemblClinVar.1
Natural variantiVAR_07333165P → L in CMS15; results in a severe reduction in protein expression; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs730882050EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK289395 mRNA Translation: BAF82084.1
CH471097 Genomic DNA Translation: EAW73027.1
BC011706 mRNA Translation: AAH11706.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS752.1

NCBI Reference Sequences

More...RefSeqi		NP_001292171.1, NM_001305242.1
NP_659425.1, NM_144988.3

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.408927

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000370205; ENSP00000359224; ENSG00000172339

Database of genes from NCBI RefSeq genomes

More...GeneIDi		199857

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:199857

UCSC genome browser

More...UCSCi		uc001dra.3 human

Keywords - Coding sequence diversityi

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
AK289395 mRNA Translation: BAF82084.1
CH471097 Genomic DNA Translation: EAW73027.1
BC011706 mRNA Translation: AAH11706.1
CCDSiCCDS752.1
RefSeqiNP_001292171.1, NM_001305242.1
NP_659425.1, NM_144988.3
UniGeneiHs.408927

3D structure databases

ProteinModelPortaliQ96F25
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128278, 7 interactors
STRINGi9606.ENSP00000359224

Protein family/group databases

CAZyiGT1 Glycosyltransferase Family 1

PTM databases

iPTMnetiQ96F25
PhosphoSitePlusiQ96F25

Polymorphism and mutation databases

BioMutaiALG14
DMDMi74731649

Proteomic databases

EPDiQ96F25
MaxQBiQ96F25
PaxDbiQ96F25
PeptideAtlasiQ96F25
PRIDEiQ96F25
ProteomicsDBi76488

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		199857
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370205; ENSP00000359224; ENSG00000172339
GeneIDi199857
KEGGihsa:199857
UCSCiuc001dra.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		199857
DisGeNETi199857
EuPathDBiHostDB:ENSG00000172339.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALG14
GeneReviewsiALG14
HGNCiHGNC:28287 ALG14
HPAiHPA031829
MalaCardsiALG14
MIMi612866 gene
616227 phenotype
neXtProtiNX_Q96F25
OpenTargetsiENSG00000172339
Orphaneti353327 Congenital myasthenic syndromes with glycosylation defect
PharmGKBiPA142672628

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3339 Eukaryota
ENOG4111QSM LUCA
GeneTreeiENSGT00390000002579
HOGENOMiHOG000182099
HOVERGENiHBG059605
InParanoidiQ96F25
KOiK07441
OMAiESICRVK
OrthoDBiEOG091G0K4A
PhylomeDBiQ96F25
TreeFamiTF105628

Enzyme and pathway databases

ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-5633231 Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

Miscellaneous databases

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

More...ChiTaRSi		ALG14 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALG14

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

More...GenomeRNAii		199857

Protein Ontology

More...PROi		PR:Q96F25

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172339 Expressed in 182 organ(s), highest expression level in corpus callosum
CleanExiHS_ALG14
GenevisibleiQ96F25 HS

Family and domain databases

InterProiView protein in InterPro
IPR013969 Oligosacch_biosynth_Alg14
PANTHERiPTHR12154 PTHR12154, 1 hit
PfamiView protein in Pfam
PF08660 Alg14, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiALG14_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: Q96F25
Secondary accession number(s): A8K030
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: December 1, 2001
Last modified: December 5, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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