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Q9Y5Z9

- UBIA1_HUMAN

UniProt

Q9Y5Z9 - UBIA1_HUMAN

Protein

UbiA prenyltransferase domain-containing protein 1

Gene

UBIAD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    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

    GO - Molecular functioni

    1. antioxidant activity Source: UniProtKB
    2. prenyltransferase activity Source: UniProtKB
    3. protein binding Source: IntAct

    GO - Biological processi

    1. menaquinone biosynthetic process Source: UniProtKB
    2. ubiquinone biosynthetic process Source: UniProtKB
    3. vitamin K biosynthetic process Source: UniProtKB

    Keywords - Molecular functioni

    Prenyltransferase, Transferase

    Keywords - Biological processi

    Menaquinone biosynthesis, Ubiquinone biosynthesis

    Enzyme and pathway databases

    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
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:30791. UBIAD1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. endoplasmic reticulum Source: UniProtKB
    3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    4. integral component of Golgi membrane Source: UniProtKB
    5. membrane Source: UniProtKB
    6. mitochondrial membrane Source: UniProtKB-SubCell
    7. nucleus Source: UniProtKB

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Corneal dystrophy, Schnyder type (SCCD) [MIM:121800]: A 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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti97 – 971A → T in SCCD. 1 Publication
    VAR_064337
    Natural varianti98 – 981G → S in SCCD. 1 Publication
    VAR_064338
    Natural varianti102 – 1021N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 4 Publications
    VAR_043714
    Natural varianti112 – 1121D → G in SCCD; does not affect coenzyme Q10 synthesis. 1 Publication
    VAR_043715
    Natural varianti112 – 1121D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 Publication
    VAR_064339
    Natural varianti118 – 1181D → G in SCCD. 1 Publication
    VAR_043716
    Natural varianti119 – 1191R → G in SCCD. 1 Publication
    VAR_043717
    Natural varianti121 – 1211L → F in SCCD. 1 Publication
    VAR_043718
    Natural varianti122 – 1221V → E in SCCD. 1 Publication
    VAR_064340
    Natural varianti122 – 1221V → G in SCCD. 1 Publication
    VAR_064341
    Natural varianti171 – 1711S → P in SCCD. 2 Publications
    VAR_043719
    Natural varianti175 – 1751T → I in SCCD. 2 Publications
    VAR_043720
    Natural varianti177 – 1771G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 Publication
    VAR_069267
    Natural varianti177 – 1771G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications
    VAR_043721
    Natural varianti186 – 1861G → R in SCCD. 1 Publication
    VAR_043722
    Natural varianti188 – 1881L → H in SCCD. 1 Publication
    VAR_064342
    Natural varianti232 – 2321N → S in SCCD. 1 Publication
    VAR_043723
    Natural varianti236 – 2361D → E in SCCD. 1 Publication
    VAR_043724
    Natural varianti240 – 2401D → N in SCCD. 1 Publication
    VAR_064343

    Keywords - Diseasei

    Corneal dystrophy, Disease mutation

    Organism-specific databases

    MIMi121800. phenotype.
    Orphaneti98967. Schnyder corneal dystrophy.
    PharmGKBiPA142670660.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 338337UbiA prenyltransferase domain-containing protein 1PRO_0000242627Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9Y5Z9.
    PaxDbiQ9Y5Z9.
    PRIDEiQ9Y5Z9.

    PTM databases

    PhosphoSiteiQ9Y5Z9.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed.1 Publication

    Gene expression databases

    BgeeiQ9Y5Z9.
    CleanExiHS_UBIAD1.
    GenevestigatoriQ9Y5Z9.

    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. 1 interaction.
    IntActiQ9Y5Z9. 4 interactions.
    MINTiMINT-3087699.
    STRINGi9606.ENSP00000366006.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y5Z9.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei83 – 10321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei134 – 15421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei160 – 18021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei188 – 20821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 22921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei245 – 26723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei277 – 29721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei315 – 33521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UbiA prenyltransferase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1575.
    HOGENOMiHOG000231452.
    HOVERGENiHBG080284.
    InParanoidiQ9Y5Z9.
    OMAiRDIEQDK.
    OrthoDBiEOG7XH6Q2.
    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. Align

    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

    MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV    50
    LALRPWSFSA SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL 100
    VNTYYDFSKG IDHKKSDDRT LVDRILEPQD VVRFGVFLYT LGCVCAACLY 150
    YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF KYVALGDLII LITFGPLAVM 200
    FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD REAGIVTLAI 250
    LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF 300
    RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI 338
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti163 – 1631I → V in BAD96528. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751S → F.1 Publication
    Corresponds to variant rs114000606 [ dbSNP | Ensembl ].
    VAR_043713
    Natural varianti97 – 971A → T in SCCD. 1 Publication
    VAR_064337
    Natural varianti98 – 981G → S in SCCD. 1 Publication
    VAR_064338
    Natural varianti102 – 1021N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 4 Publications
    VAR_043714
    Natural varianti112 – 1121D → G in SCCD; does not affect coenzyme Q10 synthesis. 1 Publication
    VAR_043715
    Natural varianti112 – 1121D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 Publication
    VAR_064339
    Natural varianti118 – 1181D → G in SCCD. 1 Publication
    VAR_043716
    Natural varianti119 – 1191R → G in SCCD. 1 Publication
    VAR_043717
    Natural varianti121 – 1211L → F in SCCD. 1 Publication
    VAR_043718
    Natural varianti122 – 1221V → E in SCCD. 1 Publication
    VAR_064340
    Natural varianti122 – 1221V → G in SCCD. 1 Publication
    VAR_064341
    Natural varianti171 – 1711S → P in SCCD. 2 Publications
    VAR_043719
    Natural varianti175 – 1751T → I in SCCD. 2 Publications
    VAR_043720
    Natural varianti177 – 1771G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 Publication
    VAR_069267
    Natural varianti177 – 1771G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications
    VAR_043721
    Natural varianti186 – 1861G → R in SCCD. 1 Publication
    VAR_043722
    Natural varianti188 – 1881L → H in SCCD. 1 Publication
    VAR_064342
    Natural varianti232 – 2321N → S in SCCD. 1 Publication
    VAR_043723
    Natural varianti236 – 2361D → E in SCCD. 1 Publication
    VAR_043724
    Natural varianti240 – 2401D → N in SCCD. 1 Publication
    VAR_064343

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei177 – 1793GIG → VLI in isoform 2. CuratedVSP_019455
    Alternative sequencei180 – 338159Missing in isoform 2. CuratedVSP_019456Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    RefSeqiNP_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.3. human. [Q9Y5Z9-1]

    Polymorphism databases

    DMDMi74753514.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS129.1. [Q9Y5Z9-1 ]
    RefSeqi 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. 1 interaction.
    IntActi Q9Y5Z9. 4 interactions.
    MINTi MINT-3087699.
    STRINGi 9606.ENSP00000366006.

    PTM databases

    PhosphoSitei Q9Y5Z9.

    Polymorphism databases

    DMDMi 74753514.

    Proteomic databases

    MaxQBi Q9Y5Z9.
    PaxDbi Q9Y5Z9.
    PRIDEi Q9Y5Z9.

    Protocols and materials databases

    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.3. human. [Q9Y5Z9-1 ]

    Organism-specific databases

    CTDi 29914.
    GeneCardsi GC01P011334.
    HGNCi HGNC:30791. UBIAD1.
    HPAi HPA038200.
    HPA044862.
    MIMi 121800. phenotype.
    611632. gene.
    neXtProti NX_Q9Y5Z9.
    Orphaneti 98967. Schnyder corneal dystrophy.
    PharmGKBi PA142670660.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1575.
    HOGENOMi HOG000231452.
    HOVERGENi HBG080284.
    InParanoidi Q9Y5Z9.
    OMAi RDIEQDK.
    OrthoDBi EOG7XH6Q2.
    PhylomeDBi Q9Y5Z9.
    TreeFami TF323238.

    Enzyme and pathway databases

    UniPathwayi UPA00079 .
    UPA00232 .

    Miscellaneous databases

    ChiTaRSi UBIAD1. human.
    GeneWikii UBIAD1.
    GenomeRNAii 29914.
    NextBioi 52502.
    PROi Q9Y5Z9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y5Z9.
    CleanExi HS_UBIAD1.
    Genevestigatori Q9Y5Z9.

    Family and domain databases

    InterProi IPR000537. UbiA_prenyltransferase.
    IPR026046. UBIAD1.
    [Graphical view ]
    Pfami PF01040. UbiA. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF005355. UBIAD1. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of the TERE1 gene, a gene down-regulated in transitional cell carcinoma of the bladder."
      McGarvey T.W., Nguyen T., Tomaszewski J.E., Monson F.C., Malkowicz S.B.
      Oncogene 20:1042-1051(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
      Tissue: Spleen.
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Liver.
    4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Lung.
    8. "TERE1, a novel gene affecting growth regulation in prostate carcinoma."
      McGarvey T.W., Nguyen T., Puthiyaveettil R., Tomaszewski J.E., Malkowicz S.B.
      Prostate 54:144-155(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CARCINOMA, SUBCELLULAR LOCATION.
    9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    10. "Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme."
      Nakagawa K., Hirota Y., Sawada N., Yuge N., Watanabe M., Uchino Y., Okuda N., Shimomura Y., Suhara Y., Okano T.
      Nature 468:117-121(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PATHWAY, SUBCELLULAR LOCATION.
    11. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis."
      Mugoni V., Postel R., Catanzaro V., De Luca E., Turco E., Digilio G., Silengo L., Murphy M.P., Medana C., Stainier D.Y., Bakkers J., Santoro M.M.
      Cell 152:504-518(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SCCD SER-102 AND GLY-112.
    13. "Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy."
      Weiss J.S., Kruth H.S., Kuivaniemi H., Tromp G., White P.S., Winters R.S., Lisch W., Henn W., Denninger E., Krause M., Wasson P., Ebenezer N., Mahurkar S., Nickerson M.L.
      Invest. Ophthalmol. Vis. Sci. 48:5007-5012(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCCD SER-102 AND ARG-177.
    14. "Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy."
      Orr A., Dube M.-P., Marcadier J., Jiang H., Federico A., George S., Seamone C., Andrews D., Dubord P., Holland S., Provost S., Mongrain V., Evans S., Higgins B., Bowman S., Guernsey D., Samuels M.
      PLoS ONE 2:E685-E685(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SCCD SER-102; GLY-112; GLY-119; ILE-175 AND SER-232, VARIANT PHE-75.
    15. Cited for: VARIANTS SCCD SER-102; GLY-118; PHE-121; PRO-171; ILE-175; ARG-177; ARG-186 AND GLU-236.
    16. "Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy."
      Mehta J.S., Vithana E.N., Venkataraman D., Venkatraman A., Yong V.H., Aung T., Tan D.T.
      Br. J. Ophthalmol. 93:926-931(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCD PRO-171.
    17. "A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy."
      Jing Y., Liu C., Xu J., Wang L.
      Mol. Vis. 15:1463-1469(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCD SER-98.
    18. "Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy."
      Weiss J.S., Wiaux C., Yellore V., Raber I., Eagle R., Mequio M., Aldave A.
      Cornea 29:777-780(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SCCD ASN-240.
    19. Cited for: VARIANTS SCCD THR-97; SER-102; ASN-112; GLY-122; GLU-122 AND HIS-188, SUBCELLULAR LOCATION.
    20. Cited for: VARIANT GLU-177, CHARACTERIZATION OF VARIANTS SCCD SER-102; ASN-112; GLU-177 AND ARG-177, INTERACTION WITH HMGCR AND SOAT1.

    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: October 1, 2014
    This is version 107 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

    External Data

    Dasty 3