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UniProtKB - Q86SQ9 (DHDDS_HUMAN)

Entry version 159 (10 Feb 2021)
Sequence version 3 (17 Oct 2006)
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Protein

Dehydrodolichyl diphosphate synthase complex subunit DHDDS

Gene

DHDDS

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

With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) (PubMed:25066056, PubMed:28842490, PubMed:32817466). Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length (PubMed:32817466). Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol (PubMed:21572394).4 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 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+2 PublicationsNote: Binds 1 magnesium ion per subunit.1 Publication

<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

Activated by phospholipids including cardiolipin, phosphatidylcholine, phosphatidylethanolamine, phosphatidylinositol and phosphatidylserine.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

Values were measured with the heterodimer. kcat is 0.58 sec(-1) with (2E,6E)-farnesyl diphosphate and isopentenyl diphosphate as substrate.1 Publication
  1. KM=11.1 µM for isopentenyl diphosphate1 Publication
  2. KM=0.68 µM for (2E,6E)-farnesyl diphosphate1 Publication

    pH dependencei

    Optimum pH is 8-9. Active from pH 5.5 to 9.3.1 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.1 Publication
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    Pathwayi: Lipid metabolism

    This protein is involved in Lipid metabolism.1 Publication
    View all proteins of this organism that are known to be involved in Lipid metabolism.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi34Magnesium1 Publication1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei38Isopentenyl diphosphate1 Publication1
    Binding sitei85Isopentenyl diphosphate1 Publication1
    Binding sitei205Isopentenyl diphosphate1 Publication1
    Binding sitei211Isopentenyl diphosphate1 Publication1
    Binding sitei213Isopentenyl diphosphate1 Publication1

    <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 functionTransferase
    Biological processLipid metabolism
    LigandMagnesium, Metal-binding

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS04165-MONOMER

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		2.5.1.87, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q86SQ9

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-446199, Synthesis of Dolichyl-phosphate
    R-HSA-4755609, Defective DHDDS causes retinitis pigmentosa 59

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

    More...    UniPathwayi    		UPA00378

    <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:
    Dehydrodolichyl diphosphate synthase complex subunit DHDDSCurated (EC:2.5.1.872 Publications)
    Alternative name(s):
    Cis-isoprenyltransferase1 Publication
    Short name:
    CIT1 Publication
    Short name:
    Cis-IPTase1 Publication
    Cis-prenyltransferase subunit hCIT1 Publication
    Epididymis tissue protein Li 189m
    <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:DHDDS1 PublicationImported
    Synonyms:HDS
    <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 1

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:20603, DHDDS

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		608172, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q86SQ9

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000117682.16

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

    Keywords - Cellular componenti

    Endoplasmic reticulum, 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

    Retinitis pigmentosa 59 (RP59)1 Publication
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
    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_06535642K → E in RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP.. 2 PublicationsCorresponds to variant dbSNP:rs147394623EnsemblClinVar.1
    Developmental delay and seizures with or without movement abnormalities (DEDSM)1 Publication
    The disease may be caused by variants affecting the gene represented in this entry.
    Disease descriptionAn autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08070837R → H in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553121073EnsemblClinVar.1
    Natural variantiVAR_080709211R → Q in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553122926EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi12W → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-15 and A-19. 1 Publication1
    Mutagenesisi15F → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-19. 1 Publication1
    Mutagenesisi19I → A: Markedly decreases phosphatidylinositol-mediated activation of cis-prenyltransferase activity resulting in products with longer chain length; when associated with A-12 and A-15. 1 Publication1
    Mutagenesisi106 – 109Missing : Affects chain elongation resulting in shorter products. 1 Publication4
    Mutagenesisi306R → A: Delays cell growth; when associated with A-313 and A-317. 1 Publication1
    Mutagenesisi313F → A: Delays cell growth; when associated with A-306 and A-317. 1 Publication1
    Mutagenesisi317L → A: Delays cell growth; when associated with A-306 and A-313. 1 Publication1

    Keywords - Diseasei

    Disease variant, Epilepsy, Mental retardation, Retinitis pigmentosa

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		79947

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

    More...    GeneReviewsi    		DHDDS

    MalaCards human disease database

    More...    MalaCardsi    		DHDDS
    MIMi613861, phenotype
    617836, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000117682

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

    More...    Orphaneti    		791, Retinitis pigmentosa
    442835, Undetermined early-onset epileptic encephalopathy

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA134867119

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q86SQ9, Tbio

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		DHDDS

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		116241329

    <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_00001237491 – 333Dehydrodolichyl diphosphate synthase complex subunit DHDDSAdd BLAST333

    Proteomic databases

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q86SQ9

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q86SQ9

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q86SQ9

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

    More...    PaxDbi    		Q86SQ9

    PeptideAtlas

    More...    PeptideAtlasi    		Q86SQ9

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q86SQ9

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		6588
    69620 [Q86SQ9-1]
    69621 [Q86SQ9-2]
    69622 [Q86SQ9-3]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q86SQ9

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

    More...    PhosphoSitePlusi    		Q86SQ9

    <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

    Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000117682, Expressed in right hemisphere of cerebellum and 212 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q86SQ9, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q86SQ9, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000117682, 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

    Forms an active dehydrodolichyl diphosphate synthase complex with NUS1 (PubMed:25066056, PubMed:28842490, PubMed:32817466).

    Interacts with NPC2 (PubMed:21572394).

    3 Publications

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		123018, 6 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...    CORUMi    		Q86SQ9

    Protein interaction database and analysis system

    More...    IntActi    		Q86SQ9, 2 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000353104

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q86SQ9, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    3D structure databases

    Small Angle Scattering Biological Data Bank

    More...    SASBDBi    		Q86SQ9

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		Q86SQ9

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

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

    The catalytic site at NUS1-DHDDS interface accomodates both the allylic and the homoallylic IPP substrates to the S1 and S2 pockets respectively. The beta-phosphate groups of IPP substrates form hydrogen bonds with the RXG motif of NUS1 and four conserved residues of DHDDS (Arg-85, Arg-205, Arg-211 and Ser-213), while the allylic isopentenyl group is pointed toward the hydrophobic tunnel of the S1 pocket where the product elongation occurs.1 Publication

    <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 UPP synthase family.Curated

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG1602, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000007879

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q86SQ9

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		PRTEGHK

    Database of Orthologous Groups

    More...    OrthoDBi    		1362420at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q86SQ9

    TreeFam database of animal gene trees

    More...    TreeFami    		TF323753

    Family and domain databases

    Conserved Domains Database

    More...    CDDi    		cd00475, Cis_IPPS, 1 hit

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.40.1180.10, 1 hit

    HAMAP database of protein families

    More...    HAMAPi    		MF_01139, ISPT, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR001441, UPP_synth-like
    IPR018520, UPP_synth-like_CS
    IPR036424, UPP_synth-like_sf

    The PANTHER Classification System

    More...    PANTHERi    		PTHR10291, PTHR10291, 1 hit

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF01255, Prenyltransf, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF64005, SSF64005, 1 hit

    TIGRFAMs; a protein family database

    More...    TIGRFAMsi    		TIGR00055, uppS, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS01066, UPP_SYNTHASE, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (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

    This entry has 4 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q86SQ9-1) [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
    MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG 
            60         70         80         90        100
    HSQGFNKLAE TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK 
           110        120        130        140        150
    FSRLMEEKEK LQKHGVCIRV LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL 
           160        170        180        190        200
    NVCFAYTSRH EISNAVREMA WGVEQGLLDP SDISESLLDK CLYTNRSPHP 
           210        220        230        240        250
    DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL FEAILQFQMN 
           260        270        280        290        300
    HSVLQKARDM YAEERKRQQL ERDQATVTEQ LLREGLQASG DAQLRRTRLH 
           310        320        330 
    KLSARREERV QGFLQALELK RADWLARLGT ASA
    Length:333
    Mass (Da):38,657
    Last modified:October 17, 2006 - 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:i12EF3A15437A2583
    GO
    Isoform 2 (identifier: Q86SQ9-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         255-255: Q → QQ

    Show »
    Length:334
    Mass (Da):38,786
    Checksum:i8B91F530F1E538E2
    GO
    Isoform 3 (identifier: Q86SQ9-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         109-147: Missing.

    Note: May be due to exon skipping.Curated
    Show »
    Length:294
    Mass (Da):34,264
    Checksum:i1EF92BC4658FFDF9
    GO
    Isoform 4 (identifier: Q86SQ9-4) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         147-181: KCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPS → N

    Show »
    Length:299
    Mass (Da):34,817
    Checksum:i55AE4DA2A326CA58
    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
    E9PI09E9PI09_HUMAN
    Alkyl transferase
    DHDDS
    		198Annotation 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>
    Q5T0A1Q5T0A1_HUMAN
    Alkyl transferase
    DHDDS
    		209Annotation 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>
    Q5T0A2Q5T0A2_HUMAN
    Alkyl transferase
    DHDDS
    		173Annotation 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>
    E9PRS7E9PRS7_HUMAN
    Alkyl transferase
    DHDDS
    		122Annotation 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>
    E9PI64E9PI64_HUMAN
    Alkyl transferase
    DHDDS
    		130Annotation 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>
    E9PR24E9PR24_HUMAN
    Alkyl transferase
    DHDDS
    		165Annotation 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>
    Q5T0A3Q5T0A3_HUMAN
    Alkyl transferase
    DHDDS
    		216Annotation 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>
    H0Y4T1H0Y4T1_HUMAN
    Alkyl transferase
    DHDDS
    		162Annotation 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>
    Q5T0A6Q5T0A6_HUMAN
    Ditrans,polycis-polyprenyl diphosph...
    DHDDS
    		169Annotation 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>
    E9PSH7E9PSH7_HUMAN
    Ditrans,polycis-polyprenyl diphosph...
    DHDDS
    		85Annotation 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 conflicti151N → Y in BAB14439 (PubMed:14702039).Curated1
    Sequence conflicti277V → E in AAH34152 (PubMed:15489334).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_08070837R → H in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553121073EnsemblClinVar.1
    Natural variantiVAR_06535642K → E in RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP.. 2 PublicationsCorresponds to variant dbSNP:rs147394623EnsemblClinVar.1
    Natural variantiVAR_080709211R → Q in DEDSM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553122926EnsemblClinVar.1
    Natural variantiVAR_028088253V → M3 PublicationsCorresponds to variant dbSNP:rs3816539EnsemblClinVar.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_010030109 – 147Missing in isoform 3. 1 PublicationAdd BLAST39
    Alternative sequenceiVSP_045007147 – 181KCFLN…LLDPS → N in isoform 4. 1 PublicationAdd BLAST35
    Alternative sequenceiVSP_010031255Q → QQ in isoform 2. 1 Publication1

    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
    		AB090852 mRNA Translation: BAC57588.1
    GU727641 mRNA Translation: ADU87642.1
    AK023164 mRNA Translation: BAB14439.1
    AK297134 mRNA Translation: BAH12505.1
    AK316485 mRNA Translation: BAH14856.1
    AL513365 Genomic DNA No translation available.
    CH471059 Genomic DNA Translation: EAX07806.1
    CH471059 Genomic DNA Translation: EAX07808.1
    CH471059 Genomic DNA Translation: EAX07809.1
    CH471059 Genomic DNA Translation: EAX07810.1
    CH471059 Genomic DNA Translation: EAX07811.1
    CH471059 Genomic DNA Translation: EAX07812.1
    BC003643 mRNA Translation: AAH03643.1
    BC004117 mRNA Translation: AAH04117.1
    BC034152 mRNA Translation: AAH34152.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS281.1 [Q86SQ9-2]
    CCDS282.1 [Q86SQ9-1]
    CCDS57983.1 [Q86SQ9-4]
    CCDS57984.1 [Q86SQ9-3]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001230493.1, NM_001243564.1 [Q86SQ9-4]
    NP_001230494.1, NM_001243565.1 [Q86SQ9-3]
    NP_079163.2, NM_024887.3 [Q86SQ9-2]
    NP_995583.1, NM_205861.2 [Q86SQ9-1]
    XP_006710975.1, XM_006710912.2
    XP_006710976.1, XM_006710913.2
    XP_006710977.1, XM_006710914.2
    XP_011540485.1, XM_011542183.2
    XP_011540486.1, XM_011542184.2
    XP_011540488.1, XM_011542186.2
    XP_016857868.1, XM_017002379.1
    XP_016857869.1, XM_017002380.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000236342; ENSP00000236342; ENSG00000117682 [Q86SQ9-1]
    ENST00000360009; ENSP00000353104; ENSG00000117682 [Q86SQ9-2]
    ENST00000525682; ENSP00000434984; ENSG00000117682 [Q86SQ9-4]
    ENST00000526219; ENSP00000434219; ENSG00000117682 [Q86SQ9-3]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		79947

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:79947

    UCSC genome browser

    More...    UCSCi    		uc001bmk.4, human [Q86SQ9-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AB090852 mRNA Translation: BAC57588.1
    GU727641 mRNA Translation: ADU87642.1
    AK023164 mRNA Translation: BAB14439.1
    AK297134 mRNA Translation: BAH12505.1
    AK316485 mRNA Translation: BAH14856.1
    AL513365 Genomic DNA No translation available.
    CH471059 Genomic DNA Translation: EAX07806.1
    CH471059 Genomic DNA Translation: EAX07808.1
    CH471059 Genomic DNA Translation: EAX07809.1
    CH471059 Genomic DNA Translation: EAX07810.1
    CH471059 Genomic DNA Translation: EAX07811.1
    CH471059 Genomic DNA Translation: EAX07812.1
    BC003643 mRNA Translation: AAH03643.1
    BC004117 mRNA Translation: AAH04117.1
    BC034152 mRNA Translation: AAH34152.1
    CCDSiCCDS281.1 [Q86SQ9-2]
    CCDS282.1 [Q86SQ9-1]
    CCDS57983.1 [Q86SQ9-4]
    CCDS57984.1 [Q86SQ9-3]
    RefSeqiNP_001230493.1, NM_001243564.1 [Q86SQ9-4]
    NP_001230494.1, NM_001243565.1 [Q86SQ9-3]
    NP_079163.2, NM_024887.3 [Q86SQ9-2]
    NP_995583.1, NM_205861.2 [Q86SQ9-1]
    XP_006710975.1, XM_006710912.2
    XP_006710976.1, XM_006710913.2
    XP_006710977.1, XM_006710914.2
    XP_011540485.1, XM_011542183.2
    XP_011540486.1, XM_011542184.2
    XP_011540488.1, XM_011542186.2
    XP_016857868.1, XM_017002379.1
    XP_016857869.1, XM_017002380.1

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    6W2LX-ray2.31A2-330[»]
    6Z1NX-ray2.30A1-333[»]
    SASBDBiQ86SQ9
    SMRiQ86SQ9
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi123018, 6 interactors
    CORUMiQ86SQ9
    IntActiQ86SQ9, 2 interactors
    STRINGi9606.ENSP00000353104

    PTM databases

    iPTMnetiQ86SQ9
    PhosphoSitePlusiQ86SQ9

    Genetic variation databases

    BioMutaiDHDDS
    DMDMi116241329

    Proteomic databases

    jPOSTiQ86SQ9
    MassIVEiQ86SQ9
    MaxQBiQ86SQ9
    PaxDbiQ86SQ9
    PeptideAtlasiQ86SQ9
    PRIDEiQ86SQ9
    ProteomicsDBi6588
    69620 [Q86SQ9-1]
    69621 [Q86SQ9-2]
    69622 [Q86SQ9-3]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		16091, 103 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		79947

    Genome annotation databases

    EnsembliENST00000236342; ENSP00000236342; ENSG00000117682 [Q86SQ9-1]
    ENST00000360009; ENSP00000353104; ENSG00000117682 [Q86SQ9-2]
    ENST00000525682; ENSP00000434984; ENSG00000117682 [Q86SQ9-4]
    ENST00000526219; ENSP00000434219; ENSG00000117682 [Q86SQ9-3]
    GeneIDi79947
    KEGGihsa:79947
    UCSCiuc001bmk.4, human [Q86SQ9-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		79947
    DisGeNETi79947

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		DHDDS
    GeneReviewsiDHDDS
    HGNCiHGNC:20603, DHDDS
    HPAiENSG00000117682, Low tissue specificity
    MalaCardsiDHDDS
    MIMi608172, gene
    613861, phenotype
    617836, phenotype
    neXtProtiNX_Q86SQ9
    OpenTargetsiENSG00000117682
    Orphaneti791, Retinitis pigmentosa
    442835, Undetermined early-onset epileptic encephalopathy
    PharmGKBiPA134867119
    VEuPathDBiHostDB:ENSG00000117682.16

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG1602, Eukaryota
    GeneTreeiENSGT00390000007879
    InParanoidiQ86SQ9
    OMAiPRTEGHK
    OrthoDBi1362420at2759
    PhylomeDBiQ86SQ9
    TreeFamiTF323753

    Enzyme and pathway databases

    UniPathwayiUPA00378
    BioCyciMetaCyc:HS04165-MONOMER
    BRENDAi2.5.1.87, 2681
    PathwayCommonsiQ86SQ9
    ReactomeiR-HSA-446199, Synthesis of Dolichyl-phosphate
    R-HSA-4755609, Defective DHDDS causes retinitis pigmentosa 59

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		79947, 769 hits in 880 CRISPR screens

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

    More...    ChiTaRSi    		DHDDS, human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		Dehydrodolichyl_diphosphate_synthase
    DHDDS

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

    More...    GenomeRNAii    		79947
    PharosiQ86SQ9, Tbio

    Protein Ontology

    More...    PROi    		PR:Q86SQ9
    RNActiQ86SQ9, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000117682, Expressed in right hemisphere of cerebellum and 212 other tissues
    ExpressionAtlasiQ86SQ9, baseline and differential
    GenevisibleiQ86SQ9, HS

    Family and domain databases

    CDDicd00475, Cis_IPPS, 1 hit
    Gene3Di3.40.1180.10, 1 hit
    HAMAPiMF_01139, ISPT, 1 hit
    InterProiView protein in InterPro
    IPR001441, UPP_synth-like
    IPR018520, UPP_synth-like_CS
    IPR036424, UPP_synth-like_sf
    PANTHERiPTHR10291, PTHR10291, 1 hit
    PfamiView protein in Pfam
    PF01255, Prenyltransf, 1 hit
    SUPFAMiSSF64005, SSF64005, 1 hit
    TIGRFAMsiTIGR00055, uppS, 1 hit
    PROSITEiView protein in PROSITE
    PS01066, UPP_SYNTHASE, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDHDDS_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: Q86SQ9
    Secondary accession number(s): B7Z4B9
    , B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q8NE90, Q9BTG5, Q9BTK3, Q9H905
    <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: April 13, 2004
    Last sequence update: October 17, 2006
    Last modified: February 10, 2021
    This is version 159 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

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families
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