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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-Experimental evidence at protein leveli

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 biosyntetic enzyme: coenzyme Q10, also named ubiquinone, plays a 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

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.

GO - Molecular functioni

  • antioxidant activity Source: UniProtKB
  • prenyltransferase activity Source: UniProtKB

GO - Biological processi

  • menaquinone biosynthetic process Source: UniProtKB
  • ubiquinone biosynthetic process Source: UniProtKB
  • vitamin K biosynthetic process Source: UniProtKB
  • vitamin K metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Prenyltransferase, Transferase

Keywords - Biological processi

Menaquinone biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120942-MONOMER.
ReactomeiR-HSA-6806664. Metabolism of vitamin K.
UniPathwayiUPA00079.
UPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
UbiA prenyltransferase domain-containing protein 1 (EC:2.5.1.-)
Alternative name(s):
Transitional epithelial response protein 1
Gene namesi
Name:UBIAD1
Synonyms:TERE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30791. UBIAD1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Reactome
  • integral component of Golgi membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrial membrane Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Corneal dystrophy, Schnyder type (SCCD)7 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.
See also OMIM:121800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs118203945dbSNPEnsembl.1
Natural variantiVAR_043715112D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant rs118203950dbSNPEnsembl.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 rs118203947dbSNPEnsembl.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 rs118203951dbSNPEnsembl.1
Natural variantiVAR_043720175T → I in SCCD. 2 PublicationsCorresponds to variant rs118203948dbSNPEnsembl.1
Natural variantiVAR_069267177G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant rs397514669dbSNPEnsembl.1
Natural variantiVAR_043721177G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant rs118203946dbSNPEnsembl.1
Natural variantiVAR_043722186G → R in SCCD. 1 PublicationCorresponds to variant rs118203952dbSNPEnsembl.1
Natural variantiVAR_064342188L → H in SCCD. 1 Publication1
Natural variantiVAR_043723232N → S in SCCD. 1 PublicationCorresponds to variant rs118203949dbSNPEnsembl.1
Natural variantiVAR_043724236D → E in SCCD. 1 PublicationCorresponds to variant rs118203953dbSNPEnsembl.1
Natural variantiVAR_064343240D → N in SCCD. 1 PublicationCorresponds to variant rs371811409dbSNPEnsembl.1

Keywords - Diseasei

Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi29914.
MalaCardsiUBIAD1.
MIMi121800. phenotype.
OpenTargetsiENSG00000120942.
Orphaneti98967. Schnyder corneal dystrophy.
PharmGKBiPA142670660.

Polymorphism and mutation databases

BioMutaiUBIAD1.
DMDMi74753514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002426272 – 338UbiA prenyltransferase domain-containing protein 1Add BLAST337

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y5Z9.
PaxDbiQ9Y5Z9.
PeptideAtlasiQ9Y5Z9.
PRIDEiQ9Y5Z9.

PTM databases

iPTMnetiQ9Y5Z9.
PhosphoSitePlusiQ9Y5Z9.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000120942.
CleanExiHS_UBIAD1.
ExpressionAtlasiQ9Y5Z9. baseline and differential.
GenevisibleiQ9Y5Z9. HS.

Organism-specific databases

HPAiHPA038200.
HPA044862.

Interactioni

Subunit structurei

Interacts with HMGCR and SOAT1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
HMGCRP040355EBI-6621921,EBI-465513
SOAT1P356102EBI-2819725,EBI-6621955
SOAT1P35610-13EBI-2819725,EBI-6621997

Protein-protein interaction databases

BioGridi118958. 6 interactors.
IntActiQ9Y5Z9. 11 interactors.
MINTiMINT-3087699.
STRINGi9606.ENSP00000366006.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5Z9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UbiA prenyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4581. Eukaryota.
COG1575. LUCA.
GeneTreeiENSGT00390000012439.
HOGENOMiHOG000231452.
HOVERGENiHBG080284.
InParanoidiQ9Y5Z9.
OMAiMGLFYVF.
OrthoDBiEOG091G0C2Z.
PhylomeDBiQ9Y5Z9.
TreeFamiTF323238.

Family and domain databases

InterProiIPR000537. UbiA_prenyltransferase.
IPR026046. UBIAD1.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
PIRSFiPIRSF005355. UBIAD1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5Z9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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
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.

Note: No experimental confirmation available.
Show »
Length:179
Mass (Da):19,482
Checksum:i78C76B7F91C92017
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti163I → V in BAD96528 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04371375S → F.1 PublicationCorresponds to variant rs114000606dbSNPEnsembl.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 rs118203945dbSNPEnsembl.1
Natural variantiVAR_043715112D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant rs118203950dbSNPEnsembl.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 rs118203947dbSNPEnsembl.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 rs118203951dbSNPEnsembl.1
Natural variantiVAR_043720175T → I in SCCD. 2 PublicationsCorresponds to variant rs118203948dbSNPEnsembl.1
Natural variantiVAR_069267177G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant rs397514669dbSNPEnsembl.1
Natural variantiVAR_043721177G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant rs118203946dbSNPEnsembl.1
Natural variantiVAR_043722186G → R in SCCD. 1 PublicationCorresponds to variant rs118203952dbSNPEnsembl.1
Natural variantiVAR_064342188L → H in SCCD. 1 Publication1
Natural variantiVAR_043723232N → S in SCCD. 1 PublicationCorresponds to variant rs118203949dbSNPEnsembl.1
Natural variantiVAR_043724236D → E in SCCD. 1 PublicationCorresponds to variant rs118203953dbSNPEnsembl.1
Natural variantiVAR_064343240D → N in SCCD. 1 PublicationCorresponds to variant rs371811409dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019455177 – 179GIG → VLI in isoform 2. Curated3
Alternative sequenceiVSP_019456180 – 338Missing in isoform 2. CuratedAdd BLAST159

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. Translation: CAI22837.1.
AL031291 Genomic DNA. Translation: CAI22838.1.
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.
NP_037451.1. NM_013319.2. [Q9Y5Z9-1]
UniGeneiHs.522933.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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. Translation: CAI22837.1.
AL031291 Genomic DNA. Translation: CAI22838.1.
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.
NP_037451.1. NM_013319.2. [Q9Y5Z9-1]
UniGeneiHs.522933.

3D structure databases

ProteinModelPortaliQ9Y5Z9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118958. 6 interactors.
IntActiQ9Y5Z9. 11 interactors.
MINTiMINT-3087699.
STRINGi9606.ENSP00000366006.

PTM databases

iPTMnetiQ9Y5Z9.
PhosphoSitePlusiQ9Y5Z9.

Polymorphism and mutation databases

BioMutaiUBIAD1.
DMDMi74753514.

Proteomic databases

EPDiQ9Y5Z9.
PaxDbiQ9Y5Z9.
PeptideAtlasiQ9Y5Z9.
PRIDEiQ9Y5Z9.

Protocols and materials databases

DNASUi29914.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi29914.
DisGeNETi29914.
GeneCardsiUBIAD1.
HGNCiHGNC:30791. UBIAD1.
HPAiHPA038200.
HPA044862.
MalaCardsiUBIAD1.
MIMi121800. phenotype.
611632. gene.
neXtProtiNX_Q9Y5Z9.
OpenTargetsiENSG00000120942.
Orphaneti98967. Schnyder corneal dystrophy.
PharmGKBiPA142670660.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4581. Eukaryota.
COG1575. LUCA.
GeneTreeiENSGT00390000012439.
HOGENOMiHOG000231452.
HOVERGENiHBG080284.
InParanoidiQ9Y5Z9.
OMAiMGLFYVF.
OrthoDBiEOG091G0C2Z.
PhylomeDBiQ9Y5Z9.
TreeFamiTF323238.

Enzyme and pathway databases

UniPathwayiUPA00079.
UPA00232.
BioCyciZFISH:ENSG00000120942-MONOMER.
ReactomeiR-HSA-6806664. Metabolism of vitamin K.

Miscellaneous databases

ChiTaRSiUBIAD1. human.
GeneWikiiUBIAD1.
GenomeRNAii29914.
PROiQ9Y5Z9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120942.
CleanExiHS_UBIAD1.
ExpressionAtlasiQ9Y5Z9. baseline and differential.
GenevisibleiQ9Y5Z9. HS.

Family and domain databases

InterProiIPR000537. UbiA_prenyltransferase.
IPR026046. UBIAD1.
[Graphical view]
PfamiPF01040. UbiA. 1 hit.
[Graphical view]
PIRSFiPIRSF005355. UBIAD1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiUBIA1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5Z9
Secondary accession number(s): B3KQG3, Q53GX3, Q5THD4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: November 1, 1999
Last modified: November 30, 2016
This is version 128 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Miscellaneous

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.