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UniProtKB - Q9Y5Z9 (UBIA1_HUMAN)

Entry version 153 (07 Oct 2020)
Sequence version 1 (01 Nov 1999)
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Protein

UbiA prenyltransferase domain-containing protein 1

Gene

UBIAD1

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

Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.2 Publications

Miscellaneous

Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).2 Publications

<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: menaquinone biosynthesis

This protein is involved in the pathway menaquinone biosynthesis, which is part of Quinol/quinone metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway menaquinone biosynthesis and in Quinol/quinone metabolism.

Pathwayi: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.1 Publication
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

<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 functionPrenyltransferase, Transferase
Biological processMenaquinone biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:ENSG00000120942-MONOMER

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y5Z9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6806664, Metabolism of vitamin K

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y5Z9

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

More...UniPathwayi		UPA00079
UPA00232

<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:
UbiA prenyltransferase domain-containing protein 1 (EC:2.5.1.-)
Alternative name(s):
Transitional epithelial response protein 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:UBIAD1
Synonyms:TERE1
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000120942.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:30791, UBIAD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611632, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y5Z9

<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>Transmembranei83 – 103HelicalSequence analysisAdd BLAST21
Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Transmembranei160 – 180HelicalSequence analysisAdd BLAST21
Transmembranei188 – 208HelicalSequence analysisAdd BLAST21
Transmembranei209 – 229HelicalSequence analysisAdd BLAST21
Transmembranei245 – 267HelicalSequence analysisAdd BLAST23
Transmembranei277 – 297HelicalSequence analysisAdd BLAST21
Transmembranei315 – 335HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Membrane, Mitochondrion, 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

Corneal dystrophy, Schnyder type (SCCD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.
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_06433797A → T in SCCD. 1 Publication1
Natural variantiVAR_06433898G → S in SCCD. 1 Publication1
Natural variantiVAR_043714102N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar.1
Natural variantiVAR_043715112D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar.1
Natural variantiVAR_064339112D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications1
Natural variantiVAR_043716118D → G in SCCD. 1 Publication1
Natural variantiVAR_043717119R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar.1
Natural variantiVAR_043718121L → F in SCCD. 1 Publication1
Natural variantiVAR_064340122V → E in SCCD. 1 Publication1
Natural variantiVAR_064341122V → G in SCCD. 1 Publication1
Natural variantiVAR_043719171S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar.1
Natural variantiVAR_043720175T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar.1
Natural variantiVAR_069267177G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669Ensembl.1
Natural variantiVAR_043721177G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar.1
Natural variantiVAR_043722186G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952Ensembl.1
Natural variantiVAR_064342188L → H in SCCD. 1 Publication1
Natural variantiVAR_043723232N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949Ensembl.1
Natural variantiVAR_043724236D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953Ensembl.1
Natural variantiVAR_064343240D → N in SCCD. 1 PublicationCorresponds to variant dbSNP:rs371811409Ensembl.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		29914

MalaCards human disease database

More...MalaCardsi		UBIAD1
MIMi121800, phenotype

Open Targets

More...OpenTargetsi		ENSG00000120942

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

More...Orphaneti		98967, Schnyder corneal dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670660

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y5Z9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		UBIAD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74753514

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002426272 – 338UbiA prenyltransferase domain-containing protein 1Add BLAST337

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y5Z9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y5Z9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y5Z9

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

More...PaxDbi		Q9Y5Z9

PeptideAtlas

More...PeptideAtlasi		Q9Y5Z9

PRoteomics IDEntifications database

More...PRIDEi		Q9Y5Z9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86555 [Q9Y5Z9-1]
86556 [Q9Y5Z9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y5Z9

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

More...PhosphoSitePlusi		Q9Y5Z9

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y5Z9

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000120942, Expressed in zone of skin and 211 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y5Z9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y5Z9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000120942, 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 HMGCR and SOAT1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
Q9Y5Z9
With#Exp.IntAct
AHNAK2 - isoform 3 [Q8IVF2-3]3EBI-2819725,EBI-12078468
ASGR2 - isoform 3 [P07307-3]3EBI-2819725,EBI-12808270
BIK [Q13323]3EBI-2819725,EBI-700794
CD33 [P20138]3EBI-2819725,EBI-3906571
CD53 [P19397]3EBI-2819725,EBI-6657396
CD79A [P11912]3EBI-2819725,EBI-7797864
CLDN7 [O95471]3EBI-2819725,EBI-740744
CPLX4 [Q7Z7G2]3EBI-2819725,EBI-18013275
CRB3 - isoform 2 [Q9BUF7-2]3EBI-2819725,EBI-17233035
CREB3L1 [Q96BA8]3EBI-2819725,EBI-6942903
CYB5R3 [P00387]3EBI-2819725,EBI-1046040
EBP [Q15125]3EBI-2819725,EBI-3915253
ERGIC3 [Q9Y282]3EBI-2819725,EBI-781551
EVI2A [P22794]3EBI-2819725,EBI-2870359
EVI2B - isoform 2 [P34910-2]3EBI-2819725,EBI-17640610
FAM209A [Q5JX71]3EBI-2819725,EBI-18304435
FKBP7 [Q9Y680]3EBI-2819725,EBI-3918971
FNDC9 [Q8TBE3]3EBI-2819725,EBI-12142257
GPR152 [Q8TDT2]3EBI-2819725,EBI-13345167
HIBADH [P31937]3EBI-2819725,EBI-11427100
HMGCR [P04035]3EBI-2819725,EBI-465513
HRAS [P01112]9EBI-2819725,EBI-350145
KCNJ6 [P48051]3EBI-2819725,EBI-12017638
LHFPL5 [Q8TAF8]3EBI-2819725,EBI-2820517
MGST3 [O14880]3EBI-2819725,EBI-724754
MRM3 [Q9HC36]3EBI-2819725,EBI-1045440
NCAPH2 - isoform 4 [Q6IBW4-4]3EBI-2819725,EBI-10247000
PHACTR3 [Q96KR7]3EBI-2819725,EBI-717068
PIGP [P57054]3EBI-2819725,EBI-17630288
REEP4 [Q9H6H4]3EBI-2819725,EBI-7545592
RETREG3 [Q86VR2]3EBI-2819725,EBI-10192441
SAR1A [Q9NR31]3EBI-2819725,EBI-3920694
SCN3B [Q9NY72]3EBI-2819725,EBI-17247926
SLC7A14 [Q8TBB6]3EBI-2819725,EBI-5235586
SOAT1 [P35610]2EBI-2819725,EBI-6621955
SOAT1 - isoform 1 [P35610-1]3EBI-2819725,EBI-6621997
SYT1 [P21579]3EBI-2819725,EBI-524909
TMEFF2 [Q9UIK5]3EBI-2819725,EBI-11423693
TMEM139 [Q8IV31]3EBI-2819725,EBI-7238458
TMEM14B [Q9NUH8]3EBI-2819725,EBI-8638294
Isoform 1 [Q9Y5Z9-1]
With#Exp.IntAct
HMGCR [P04035]5EBI-6621921,EBI-465513

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		118958, 55 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y5Z9, 53 interactors

Molecular INTeraction database

More...MINTi		Q9Y5Z9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000366006

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y5Z9, 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

<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 UbiA prenyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4581, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012439

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_043611_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y5Z9

KEGG Orthology (KO)

More...KOi		K00810

Identification of Orthologs from Complete Genome Data

More...OMAi		PMAFPLE

Database of Orthologous Groups

More...OrthoDBi		1146311at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y5Z9

TreeFam database of animal gene trees

More...TreeFami		TF323238

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000537, UbiA_prenyltransferase
IPR026046, UBIAD1

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01040, UbiA, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF005355, UBIAD1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y5Z9-1) [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
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MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV 
        60         70         80         90        100
LALRPWSFSA SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL 
       110        120        130        140        150
VNTYYDFSKG IDHKKSDDRT LVDRILEPQD VVRFGVFLYT LGCVCAACLY 
       160        170        180        190        200
YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF KYVALGDLII LITFGPLAVM 
       210        220        230        240        250
FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD REAGIVTLAI 
       260        270        280        290        300
LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF 
       310        320        330 
RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI
Length:338
Mass (Da):36,831
Last modified:November 1, 1999 - 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:i02808542DB9EA249
GO
Isoform 2 (identifier: Q9Y5Z9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     177-179: GIG → VLI
     180-338: Missing.

Show »
Length:179
Mass (Da):19,482
Checksum:i78C76B7F91C92017
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GNE3R4GNE3_HUMAN
UbiA prenyltransferase domain-conta...
UBIAD1
118Annotation 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>
R4GN21R4GN21_HUMAN
UbiA prenyltransferase domain-conta...
UBIAD1
77Annotation 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>

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 conflicti163I → V in BAD96528 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04371375S → F1 PublicationCorresponds to variant dbSNP:rs114000606EnsemblClinVar.1
Natural variantiVAR_06433797A → T in SCCD. 1 Publication1
Natural variantiVAR_06433898G → S in SCCD. 1 Publication1
Natural variantiVAR_043714102N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar.1
Natural variantiVAR_043715112D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar.1
Natural variantiVAR_064339112D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications1
Natural variantiVAR_043716118D → G in SCCD. 1 Publication1
Natural variantiVAR_043717119R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar.1
Natural variantiVAR_043718121L → F in SCCD. 1 Publication1
Natural variantiVAR_064340122V → E in SCCD. 1 Publication1
Natural variantiVAR_064341122V → G in SCCD. 1 Publication1
Natural variantiVAR_043719171S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar.1
Natural variantiVAR_043720175T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar.1
Natural variantiVAR_069267177G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669Ensembl.1
Natural variantiVAR_043721177G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar.1
Natural variantiVAR_043722186G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952Ensembl.1
Natural variantiVAR_064342188L → H in SCCD. 1 Publication1
Natural variantiVAR_043723232N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949Ensembl.1
Natural variantiVAR_043724236D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953Ensembl.1
Natural variantiVAR_064343240D → N in SCCD. 1 PublicationCorresponds to variant dbSNP:rs371811409Ensembl.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_019455177 – 179GIG → VLI in isoform 2. Curated3
Alternative sequenceiVSP_019456180 – 338Missing in isoform 2. CuratedAdd BLAST159

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
AF117064 mRNA Translation: AAD27581.1
BT006832 mRNA Translation: AAP35478.1
AK222808 mRNA Translation: BAD96528.1
AK074890 mRNA Translation: BAG52025.1
AL031291 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71686.1
BC004468 mRNA Translation: AAH04468.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS129.1 [Q9Y5Z9-1]
CCDS81260.1 [Q9Y5Z9-2]

NCBI Reference Sequences

More...RefSeqi		NP_001317279.1, NM_001330350.1 [Q9Y5Z9-2]
NP_037451.1, NM_013319.2 [Q9Y5Z9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2]
ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		29914

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:29914

UCSC genome browser

More...UCSCi		uc001asg.4, human [Q9Y5Z9-1]

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
AF117064 mRNA Translation: AAD27581.1
BT006832 mRNA Translation: AAP35478.1
AK222808 mRNA Translation: BAD96528.1
AK074890 mRNA Translation: BAG52025.1
AL031291 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71686.1
BC004468 mRNA Translation: AAH04468.1
CCDSiCCDS129.1 [Q9Y5Z9-1]
CCDS81260.1 [Q9Y5Z9-2]
RefSeqiNP_001317279.1, NM_001330350.1 [Q9Y5Z9-2]
NP_037451.1, NM_013319.2 [Q9Y5Z9-1]

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

BioGRIDi118958, 55 interactors
IntActiQ9Y5Z9, 53 interactors
MINTiQ9Y5Z9
STRINGi9606.ENSP00000366006

PTM databases

iPTMnetiQ9Y5Z9
PhosphoSitePlusiQ9Y5Z9
SwissPalmiQ9Y5Z9

Polymorphism and mutation databases

BioMutaiUBIAD1
DMDMi74753514

Proteomic databases

EPDiQ9Y5Z9
jPOSTiQ9Y5Z9
MassIVEiQ9Y5Z9
PaxDbiQ9Y5Z9
PeptideAtlasiQ9Y5Z9
PRIDEiQ9Y5Z9
ProteomicsDBi86555 [Q9Y5Z9-1]
86556 [Q9Y5Z9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13750, 108 antibodies

The DNASU plasmid repository

More...DNASUi		29914

Genome annotation databases

EnsembliENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2]
ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1]
GeneIDi29914
KEGGihsa:29914
UCSCiuc001asg.4, human [Q9Y5Z9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		29914
DisGeNETi29914
EuPathDBiHostDB:ENSG00000120942.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		UBIAD1
HGNCiHGNC:30791, UBIAD1
HPAiENSG00000120942, Low tissue specificity
MalaCardsiUBIAD1
MIMi121800, phenotype
611632, gene
neXtProtiNX_Q9Y5Z9
OpenTargetsiENSG00000120942
Orphaneti98967, Schnyder corneal dystrophy
PharmGKBiPA142670660

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4581, Eukaryota
GeneTreeiENSGT00390000012439
HOGENOMiCLU_043611_0_0_1
InParanoidiQ9Y5Z9
KOiK00810
OMAiPMAFPLE
OrthoDBi1146311at2759
PhylomeDBiQ9Y5Z9
TreeFamiTF323238

Enzyme and pathway databases

UniPathwayiUPA00079
UPA00232
BioCyciMetaCyc:ENSG00000120942-MONOMER
PathwayCommonsiQ9Y5Z9
ReactomeiR-HSA-6806664, Metabolism of vitamin K
SIGNORiQ9Y5Z9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		29914, 165 hits in 882 CRISPR screens

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

More...ChiTaRSi		UBIAD1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		UBIAD1

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

More...GenomeRNAii		29914
PharosiQ9Y5Z9, Tbio

Protein Ontology

More...PROi		PR:Q9Y5Z9
RNActiQ9Y5Z9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000120942, Expressed in zone of skin and 211 other tissues
ExpressionAtlasiQ9Y5Z9, baseline and differential
GenevisibleiQ9Y5Z9, HS

Family and domain databases

InterProiView protein in InterPro
IPR000537, UbiA_prenyltransferase
IPR026046, UBIAD1
PfamiView protein in Pfam
PF01040, UbiA, 1 hit
PIRSFiPIRSF005355, UBIAD1, 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 nameiUBIA1_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: Q9Y5Z9
Secondary accession number(s): B3KQG3, Q53GX3, Q5THD4
<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 27, 2006
Last sequence update: November 1, 1999
Last modified: October 7, 2020
This is version 153 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

Reference proteome

Documents

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