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Protein basic information

LiverAtlas Protein ID

HuLPr50158

Uniprot ID

UBIA1_HUMAN

Uniprot Acc

Q9Y5Z9;B3KQG3;Q53GX3;Q5THD4;

Protein name

UbiA prenyltransferase domain-containing protein 1

Comment

FUNCTION: Prenyltransferase that mediates the formation of menaquinone-4 (MK-4), a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas. Mediates the conversion of phylloquinone (PK) into menaquinone-4 (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.||PATHWAY: Cofactor biosynthesis; menaquinone biosynthesis.||SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Mitochondrion.||ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y5Z9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5Z9-2; Sequence=VSP 019455, VSP 019456; Note=No experimental confirmation available;||TISSUE SPECIFICITY: Ubiquitously expressed.||DISEASE: Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]. SCCD is a rare

Subcellular localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Mitochondrion.

Gene name

UbiA prenyltransferase domain containing 1

Protein sequence

MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQR SWRQKCASYVLALRPWSFSASLTPVALGSALAYRSHGVL DPRLLVGCAVAVLAVHGAGNLVNTYYDFSKGIDHKKSDD RTLVDRILEPQDVVRFGVFLYTLGCVCAACLYYLSPLKL EHLALIYFGGLSGSFLYTGGIGFKYVALGDLIILITFGP LAVMFAYAIQVGSLAIFPLVYAIPLALSTEAILHSNNTR DMESDREAGIVTLAILIGPTFSYILYNTLLFLPYLVFSI LATHCTISLALPLLTIPMAFSLERQFRSQAFNKLPQRTA KLNLLLGLFYVFGIILAPAGSLPKI

Database cross reference

RefSeq Protein accession:NP_037451
RefSeq Protein gi:7019551

Ontology annotation

GO-C

GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. GO:0016021; C:integral to membrane; IEA:UniProtKB-KW. GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell. GO:0005634; C:nucleus; IDA:UniProtKB.

GO-F

GO:0004659; F:prenyltransferase activity; IDA:UniProtKB.

GO-P

GO:0009234; P:menaquinone biosynthetic process; IEA:UniProtKB-KW.