UBIAD1

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 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

Miscellaneous

Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).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
Inferred from mutant phenotypeⁱ
- 23374346
prenyltransferase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 20953171

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

menaquinone biosynthetic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 23169578
ubiquinone biosynthetic process
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 23374346
vitamin K biosynthetic process
Source: UniProtKB
Inferred from direct assayⁱ
- 20953171
vitamin K metabolic process Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Prenyltransferase, Transferase
Biological process	Menaquinone biosynthesis, Ubiquinone biosynthesis

Enzyme and pathway databases

BioCycⁱ	MetaCyc:ENSG00000120942-MONOMER
Reactomeⁱ	R-HSA-6806664 Metabolism of vitamin K
UniPathwayⁱ	UPA00079 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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000120942.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:30791 UBIAD1
MIMⁱ	611632 gene
neXtProtⁱ	NX_Q9Y5Z9

Topology

Feature key	Position(s)	DescriptionActions	Length
Transmembraneⁱ	83 – 103	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	134 – 154	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	160 – 180	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	188 – 208	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	209 – 229	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	245 – 267	HelicalSequence analysisAdd BLAST	23
Transmembraneⁱ	277 – 297	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	315 – 335	HelicalSequence analysisAdd BLAST	21

Keywords - Cellular componentⁱ

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

Pathology & Biotechⁱ

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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_064337	97	A → T in SCCD. 1 Publication	1
Natural variantⁱVAR_064338	98	G → S in SCCD. 1 Publication	1
Natural variantⁱVAR_043714	102	N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar.	1
Natural variantⁱVAR_043715	112	D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar.	1
Natural variantⁱVAR_064339	112	D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications	1
Natural variantⁱVAR_043716	118	D → G in SCCD. 1 Publication	1
Natural variantⁱVAR_043717	119	R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar.	1
Natural variantⁱVAR_043718	121	L → F in SCCD. 1 Publication	1
Natural variantⁱVAR_064340	122	V → E in SCCD. 1 Publication	1
Natural variantⁱVAR_064341	122	V → G in SCCD. 1 Publication	1
Natural variantⁱVAR_043719	171	S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar.	1
Natural variantⁱVAR_043720	175	T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar.	1
Natural variantⁱVAR_069267	177	G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669EnsemblClinVar.	1
Natural variantⁱVAR_043721	177	G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar.	1
Natural variantⁱVAR_043722	186	G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952EnsemblClinVar.	1
Natural variantⁱVAR_064342	188	L → H in SCCD. 1 Publication	1
Natural variantⁱVAR_043723	232	N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949EnsemblClinVar.	1
Natural variantⁱVAR_043724	236	D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953EnsemblClinVar.	1
Natural variantⁱVAR_064343	240	D → 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
MIMⁱ	121800 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000120942
Orphanetⁱ	98967 Schnyder corneal dystrophy
PharmGKBⁱ	PA142670660

Polymorphism and mutation databases

BioMutaⁱ	UBIAD1
DMDMⁱ	74753514

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources
ChainⁱPRO_0000242627	2 – 338	UbiA prenyltransferase domain-containing protein 1Add BLAST		337

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	2	N-acetylalanineCombined sources		1

Keywords - PTMⁱ

Acetylation

Proteomic databases

EPDⁱ	Q9Y5Z9
PaxDbⁱ	Q9Y5Z9
PeptideAtlas More...PeptideAtlasⁱ	Q9Y5Z9
PRIDEⁱ	Q9Y5Z9
ProteomicsDBⁱ	86555 86556 [Q9Y5Z9-2]

PTM databases

iPTMnetⁱ	Q9Y5Z9
PhosphoSitePlusⁱ	Q9Y5Z9

Expressionⁱ

Tissue specificityⁱ

Ubiquitously expressed.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000120942 Expressed in 196 organ(s), highest expression level in zone of skin
CleanExⁱ	HS_UBIAD1
ExpressionAtlasⁱ	Q9Y5Z9 baseline and differential
Genevisibleⁱ	Q9Y5Z9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA044862

HPAⁱ

HPA044862

Interactionⁱ

Subunit structureⁱ

Interacts with HMGCR and SOAT1.1 Publication

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
HMGCR	P04035	5	EBI-6621921,EBI-465513
SOAT1	P35610	2	EBI-2819725,EBI-6621955
SOAT1	P35610-1	3	EBI-2819725,EBI-6621997

Protein-protein interaction databases

BioGridⁱ	118958, 9 interactors
IntActⁱ	Q9Y5Z9, 46 interactors
Molecular INTeraction database More...MINTⁱ	Q9Y5Z9
STRINGⁱ	9606.ENSP00000366006

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9Y5Z9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the UbiA prenyltransferase family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG4581 Eukaryota COG1575 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000012439
HOGENOMⁱ	HOG000231452
HOVERGENⁱ	HBG080284
InParanoidⁱ	Q9Y5Z9
KEGG Orthology (KO) More...KOⁱ	K00810
OMAⁱ	PPMYSVA
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0C2Z
PhylomeDBⁱ	Q9Y5Z9
TreeFamⁱ	TF323238

Family and domain databases

InterProⁱ	View protein in InterPro IPR000537 UbiA_prenyltransferase IPR026046 UBIAD1
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01040 UbiA, 1 hit
PIRSFⁱ	PIRSF005355 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. Align Add to basket

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

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

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

« 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 
YLSPLKLEHL ALIYFGGLSG SFLYTGVLI

Note: No experimental confirmation available.

Show »

Length:179

Mass (Da):19,482

Checksum:ⁱ78C76B7F91C92017

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

R4GNE3	R4GNE3_HUMAN	UbiA prenyltransferase domain-conta... UbiA prenyltransferase domain-containing protein 1	UBIAD1	118	Annotation score:
R4GN21	R4GN21_HUMAN	UbiA prenyltransferase domain-conta... UbiA prenyltransferase domain-containing protein 1	UBIAD1	77	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	163	I → V in BAD96528 (Ref. 3) Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_043713	75	S → F1 PublicationCorresponds to variant dbSNP:rs114000606EnsemblClinVar.	1
Natural variantⁱVAR_064337	97	A → T in SCCD. 1 Publication	1
Natural variantⁱVAR_064338	98	G → S in SCCD. 1 Publication	1
Natural variantⁱVAR_043714	102	N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar.	1
Natural variantⁱVAR_043715	112	D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar.	1
Natural variantⁱVAR_064339	112	D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications	1
Natural variantⁱVAR_043716	118	D → G in SCCD. 1 Publication	1
Natural variantⁱVAR_043717	119	R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar.	1
Natural variantⁱVAR_043718	121	L → F in SCCD. 1 Publication	1
Natural variantⁱVAR_064340	122	V → E in SCCD. 1 Publication	1
Natural variantⁱVAR_064341	122	V → G in SCCD. 1 Publication	1
Natural variantⁱVAR_043719	171	S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar.	1
Natural variantⁱVAR_043720	175	T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar.	1
Natural variantⁱVAR_069267	177	G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669EnsemblClinVar.	1
Natural variantⁱVAR_043721	177	G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar.	1
Natural variantⁱVAR_043722	186	G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952EnsemblClinVar.	1
Natural variantⁱVAR_064342	188	L → H in SCCD. 1 Publication	1
Natural variantⁱVAR_043723	232	N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949EnsemblClinVar.	1
Natural variantⁱVAR_043724	236	D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953EnsemblClinVar.	1
Natural variantⁱVAR_064343	240	D → N in SCCD. 1 PublicationCorresponds to variant dbSNP:rs371811409Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_019455	177 – 179	GIG → VLI in isoform 2. Curated		3
Alternative sequenceⁱVSP_019456	180 – 338	Missing in isoform 2. CuratedAdd BLAST		159

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
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]
UniGeneⁱ	Hs.522933

Genome annotation databases

Ensemblⁱ	ENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2] ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1]
GeneIDⁱ	29914
KEGGⁱ	hsa:29914
UCSC genome browser More...UCSCⁱ	uc001asg.4 human [Q9Y5Z9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5Z9	UBIAD1 isoform 1		PONAB		338	UniRef100_Q9Y5Z9
UbiA prenyltransferase domain containing 1		GORGO		338
Uncharacterized protein		PONAB		176
Q9Y5Z9-2	UBIAD1 isoform 2		PONAB		179	UniRef100_A0A2J8USH4
UbiA prenyltransferase domain containing 1		GORGO		179

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5Z9	UbiA prenyltransferase domain-containing protein 1		RAT		338	UniRef90_Q9Y5Z9
UbiA prenyltransferase domain-containing protein 1		MOUSE		336
UBIAD1 isoform 1		PONAB		338
UbiA prenyltransferase domain containing 1		GORGO		338
Uncharacterized protein		PROCO		342
+68
Q9Y5Z9-2	UBIAD1 isoform 3		PANTR		179	UniRef90_H2RCQ1
Uncharacterized protein		PANPA		179
Uncharacterized protein		Cebus capucinus imitator		179
Uncharacterized protein		AOTNA		179
Uncharacterized protein		CALJA		179
+15

Protein	Similar proteins		Species	Score	Length	Source
Q9Y5Z9	UbiA prenyltransferase domain-containing protein 1		RAT		338	UniRef50_Q9Y5Z9
UbiA prenyltransferase domain-containing protein 1		MOUSE		336
UbiA prenyltransferase domain-containing protein 1		DANRE		336
UBIAD1 isoform 1		PONAB		338
UbiA prenyltransferase domain containing 1		GORGO		338
+86
Q9Y5Z9-2	UBIAD1 isoform 3		PANTR		179	UniRef50_H2RCQ1
Uncharacterized protein		PANPA		179
Uncharacterized protein		Cebus capucinus imitator		179
Uncharacterized protein		COLAP		179
Uncharacterized protein		MACMU		179
+22

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
CCDSⁱ	CCDS129.1 [Q9Y5Z9-1] CCDS81260.1 [Q9Y5Z9-2]
RefSeqⁱ	NP_001317279.1, NM_001330350.1 [Q9Y5Z9-2] NP_037451.1, NM_013319.2 [Q9Y5Z9-1]
UniGeneⁱ	Hs.522933

3D structure databases

ProteinModelPortalⁱ	Q9Y5Z9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	118958, 9 interactors
IntActⁱ	Q9Y5Z9, 46 interactors
MINTⁱ	Q9Y5Z9
STRINGⁱ	9606.ENSP00000366006

PTM databases

iPTMnetⁱ	Q9Y5Z9
PhosphoSitePlusⁱ	Q9Y5Z9

Polymorphism and mutation databases

BioMutaⁱ	UBIAD1
DMDMⁱ	74753514

Proteomic databases

EPDⁱ	Q9Y5Z9
PaxDbⁱ	Q9Y5Z9
PeptideAtlasⁱ	Q9Y5Z9
PRIDEⁱ	Q9Y5Z9
ProteomicsDBⁱ	86555 86556 [Q9Y5Z9-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	29914
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2] ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1]
GeneIDⁱ	29914
KEGGⁱ	hsa:29914
UCSCⁱ	uc001asg.4 human [Q9Y5Z9-1]

Organism-specific databases

CTDⁱ	29914
DisGeNETⁱ	29914
EuPathDBⁱ	HostDB:ENSG00000120942.13
GeneCardsⁱ	UBIAD1
HGNCⁱ	HGNC:30791 UBIAD1
HPAⁱ	HPA044862
MalaCardsⁱ	UBIAD1
MIMⁱ	121800 phenotype 611632 gene
neXtProtⁱ	NX_Q9Y5Z9
OpenTargetsⁱ	ENSG00000120942
Orphanetⁱ	98967 Schnyder corneal dystrophy
PharmGKBⁱ	PA142670660
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4581 Eukaryota COG1575 LUCA
GeneTreeⁱ	ENSGT00390000012439
HOGENOMⁱ	HOG000231452
HOVERGENⁱ	HBG080284
InParanoidⁱ	Q9Y5Z9
KOⁱ	K00810
OMAⁱ	PPMYSVA
OrthoDBⁱ	EOG091G0C2Z
PhylomeDBⁱ	Q9Y5Z9
TreeFamⁱ	TF323238

Enzyme and pathway databases

UniPathwayⁱ	UPA00079 UPA00232
BioCycⁱ	MetaCyc:ENSG00000120942-MONOMER
Reactomeⁱ	R-HSA-6806664 Metabolism of vitamin K

Miscellaneous databases

ChiTaRSⁱ	UBIAD1 human
GeneWikiⁱ	UBIAD1
GenomeRNAiⁱ	29914
Protein Ontology More...PROⁱ	PR:Q9Y5Z9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000120942 Expressed in 196 organ(s), highest expression level in zone of skin
CleanExⁱ	HS_UBIAD1
ExpressionAtlasⁱ	Q9Y5Z9 baseline and differential
Genevisibleⁱ	Q9Y5Z9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000537 UbiA_prenyltransferase IPR026046 UBIAD1
Pfamⁱ	View protein in Pfam PF01040 UbiA, 1 hit
PIRSFⁱ	PIRSF005355 UBIAD1, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	UBIA1_HUMAN
Accessionⁱ	Q9Y5Z9Primary (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 7, 2018
	This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

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

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Supporting data

UniProtKB - Q9Y5Z9 (UBIA1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

UbiA prenyltransferase domain-containing protein 1

Select a section on the left to see content.

<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

Miscellaneous

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'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

Pathwayi: ubiquinone 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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

Endoplasmic reticulum

Golgi apparatus

Mitochondrion

Other locations

Endoplasmic reticulum

Golgi apparatus

Mitochondrion

Nucleus

Other locations

Topology

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

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

Gene expression databases

Organism-specific databases

<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

Protein-protein interaction databases

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

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Functionⁱ

Pathwayⁱ: menaquinone biosynthesis

Pathwayⁱ: ubiquinone biosynthesis

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ