Q9Y5Z9 (UBIA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: UbiA prenyltransferase domain-containing protein 1 EC=2.5.1.- Alternative name(s): Transitional epithelial response protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 338 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.10 |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm. Nucleus. Mitochondrion Ref.1 Ref.8 Ref.10 Ref.17. |
| Tissue specificity | Ubiquitously expressed. Ref.1 |
| Involvement in disease | Defects in UBIAD1 are the cause of crystalline corneal dystrophy of Schnyder (SCCD) [MIM:121800]. SCCD is a rare autosomal dominant disease characterized by progressive corneal opacification resulting from abnormal deposition of cholesterol and phospholipids. Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 |
| Miscellaneous | Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level). |
| Sequence similarities | Belongs to the UbiA prenyltransferase family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Menaquinone biosynthesis |
| Cellular component | Cytoplasm Endoplasmic reticulum Membrane Mitochondrion Nucleus |
| Coding sequence diversity | Alternative splicing |
| Disease | Disease mutation |
| Domain | Transmembrane Transmembrane helix |
| Molecular function | Transferase |
| PTM | Acetylation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | menaquinone biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW mitochondrionInferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from direct assay Ref.1. Source: UniProtKB |
| Molecular function | prenyltransferase activity Inferred from direct assay Ref.10. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y5Z9-1) 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. | ||||||
| Isoform 2 (identifier: Q9Y5Z9-2) The sequence of this isoform differs from the canonical sequence as follows: 177-179: GIG → VLI 180-338: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 338 | 337 | UbiA prenyltransferase domain-containing protein 1 | PRO_0000242627 | |||||
Regions | |||||||||
| Transmembrane | 83 – 103 | 21 | Helical; Potential | ||||||
| Transmembrane | 134 – 154 | 21 | Helical; Potential | ||||||
| Transmembrane | 160 – 180 | 21 | Helical; Potential | ||||||
| Transmembrane | 188 – 208 | 21 | Helical; Potential | ||||||
| Transmembrane | 209 – 229 | 21 | Helical; Potential | ||||||
| Transmembrane | 245 – 267 | 23 | Helical; Potential | ||||||
| Transmembrane | 277 – 297 | 21 | Helical; Potential | ||||||
| Transmembrane | 315 – 335 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 177 – 179 | 3 | GIG → VLI in isoform 2. | VSP_019455 | |||||
| Alternative sequence | 180 – 338 | 159 | Missing in isoform 2. | VSP_019456 | |||||
| Natural variant | 75 | 1 | S → F. Ref.12 | VAR_043713 | |||||
| Natural variant | 97 | 1 | A → T in SCCD. Ref.17 | VAR_064337 | |||||
| Natural variant | 98 | 1 | G → S in SCCD. Ref.15 | VAR_064338 | |||||
| Natural variant | 102 | 1 | N → S in SCCD. Ref.11 Ref.12 Ref.13 Ref.17 | VAR_043714 | |||||
| Natural variant | 112 | 1 | D → G in SCCD. Ref.12 | VAR_043715 | |||||
| Natural variant | 112 | 1 | D → N in SCCD. Ref.17 | VAR_064339 | |||||
| Natural variant | 118 | 1 | D → G in SCCD. Ref.13 | VAR_043716 | |||||
| Natural variant | 119 | 1 | R → G in SCCD. Ref.12 | VAR_043717 | |||||
| Natural variant | 121 | 1 | L → F in SCCD. Ref.13 | VAR_043718 | |||||
| Natural variant | 122 | 1 | V → E in SCCD. Ref.17 | VAR_064340 | |||||
| Natural variant | 122 | 1 | V → G in SCCD. Ref.17 | VAR_064341 | |||||
| Natural variant | 171 | 1 | S → P in SCCD. Ref.13 Ref.14 | VAR_043719 | |||||
| Natural variant | 175 | 1 | T → I in SCCD. Ref.12 Ref.13 | VAR_043720 | |||||
| Natural variant | 177 | 1 | G → R in SCCD. Ref.11 Ref.13 | VAR_043721 | |||||
| Natural variant | 186 | 1 | G → R in SCCD. Ref.13 | VAR_043722 | |||||
| Natural variant | 188 | 1 | L → H in SCCD. Ref.17 | VAR_064342 | |||||
| Natural variant | 232 | 1 | N → S in SCCD. Ref.12 | VAR_043723 | |||||
| Natural variant | 236 | 1 | D → E in SCCD. Ref.13 | VAR_043724 | |||||
| Natural variant | 240 | 1 | D → N in SCCD. Ref.16 | VAR_064343 | |||||
Experimental info | |||||||||
| Sequence conflict | 163 | 1 | I → V in BAD96528. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 11314041] [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. Isogai T.DNA Res. 12:117-126(2005) [PubMed: 16303743] [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. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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: 15489334] [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: 12497587] [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: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [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: 20953171] [Abstract] Cited for: FUNCTION, PATHWAY, SUBCELLULAR LOCATION. |
| [11] | "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: 17962451] [Abstract] Cited for: VARIANTS SCCD SER-102 AND ARG-177. |
| [12] | "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: 17668063] [Abstract] Cited for: VARIANTS SCCD SER-102; GLY-112; GLY-119; ILE-175 AND SER-232, VARIANT PHE-75. |
| [13] | "Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function." Weiss J.S., Kruth H.S., Kuivaniemi H., Tromp G., Karkera J., Mahurkar S., Lisch W., Dupps W.J. Jr., White P.S., Winters R.S., Kim C., Rapuano C.J., Sutphin J., Reidy J., Hu F.-R., Lu da W., Ebenezer N., Nickerson M.L. Am. J. Med. Genet. A 146:271-283(2008) [PubMed: 18176953] [Abstract] Cited for: VARIANTS SCCD SER-102; GLY-118; PHE-121; PRO-171; ILE-175; ARG-177; ARG-186 AND GLU-236. |
| [14] | "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: 19429578] [Abstract] Cited for: VARIANT SCCD PRO-171. |
| [15] | "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: 19649163] [Abstract] Cited for: VARIANT SCCD SER-98. |
| [16] | "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: 20489584] [Abstract] Cited for: VARIANT SCCD ASN-240. |
| [17] | "UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy." Nickerson M.L., Kostiha B.N., Brandt W., Fredericks W., Xu K.P., Yu F.S., Gold B., Chodosh J., Goldberg M., Lu da W., Yamada M., Tervo T.M., Grutzmacher R., Croasdale C., Hoeltzenbein M., Sutphin J., Malkowicz S.B., Wessjohann L. Weiss J.S.PLoS ONE 5:E10760-E10760(2010) [PubMed: 20505825] [Abstract] Cited for: VARIANTS SCCD THR-97; SER-102; ASN-112; GLY-122; GLU-122 AND HIS-188, SUBCELLULAR LOCATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00002468. IPI00640446. |
| RefSeq | NP_037451.1. NM_013319.2. |
| UniGene | Hs.522933. |
3D structure databases | |
| ProteinModelPortal | Q9Y5Z9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y5Z9. 1 interaction. |
| STRING | Q9Y5Z9. |
Polymorphism databases | |
| DMDM | 74753514. |
Proteomic databases | |
| PRIDE | Q9Y5Z9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000376810; ENSP00000366006; ENSG00000120942. |
| GeneID | 29914. |
| KEGG | hsa:29914. |
| NMPDR | fig|9606.3.peg.270. |
| UCSC | uc001asf.1. human. |
Organism-specific databases | |
| CTD | 29914. |
| GeneCards | GC01P011334. |
| H-InvDB | HIX0000123. |
| HGNC | HGNC:30791. UBIAD1. |
| HPA | HPA038200. |
| MIM | 121800. phenotype. 611632. gene. |
| neXtProt | NX_Q9Y5Z9. |
| Orphanet | 98967. Schnyder's crystalline corneal dystrophy. |
| PharmGKB | PA142670660. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG04235. |
| GeneTree | ENSGT00390000012439. |
| HOGENOM | HBG278946. |
| HOVERGEN | HBG080284. |
| InParanoid | Q9Y5Z9. |
| OMA | SILATHC. |
| OrthoDB | EOG4DNF50. |
| PhylomeDB | Q9Y5Z9. |
Gene expression databases | |
| ArrayExpress | Q9Y5Z9. |
| Bgee | Q9Y5Z9. |
| CleanEx | HS_UBIAD1. |
| Genevestigator | Q9Y5Z9. |
| GermOnline | ENSG00000120942. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000537. UbiA_prenyltransferase. [Graphical view] |
| Pfam | PF01040. UbiA. 1 hit. [Graphical view] |
| PROSITE | PS00943. UBIA. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 52502. |
| SOURCE | Search... |
Entry information
| Entry name | UBIA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y5Z9 Secondary accession number(s): B3KQG3, Q53GX3, Q5THD4 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with