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Reviewed, UniProtKB/Swiss-Prot Q9Y5Z9 (UBIA1_HUMAN)

Last modified November 4, 2008. Version 48. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    UbiA prenyltransferase domain-containing protein 1
Alternative name(s):
    Transitional epithelial response protein 1
Gene names
Name: UBIAD1
Synonyms: TERE1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length338 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein. Cytoplasm. Nucleus.

Tissue specificity

Ubiquitously expressed.

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.

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

   Cellular componentCytoplasm
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainTransmembrane

Gene Ontology (GO)

   Cellular componentcytoplasm Ref.1

Inferred from direct assay. Source: UniProtKB

membrane Ref.1

Inferred from direct assay. Source: UniProtKB

nucleus Ref.1

Inferred from direct assay. 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.
Notes: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 338338UbiA prenyltransferase domain-containing protein 1
PRO_0000242627

Regions

Transmembrane83 – 10321 Potential
Transmembrane134 – 15421 Potential
Transmembrane160 – 18021 Potential
Transmembrane188 – 20821 Potential
Transmembrane209 – 22921 Potential
Transmembrane245 – 26723 Potential
Transmembrane277 – 29721 Potential
Transmembrane315 – 33521 Potential

Natural variations

Alternative sequence177 – 1793GIG → VLI in isoform 2.
VSP_019455
Alternative sequence180 – 338159Missing in isoform 2.
VSP_019456
Natural variant751S → F
VAR_043713
Natural variant1021N → S in SCCD.
VAR_043714
Natural variant1121D → G in SCCD.
VAR_043715
Natural variant1181D → G in SCCD.
VAR_043716
Natural variant1191R → G in SCCD.
VAR_043717
Natural variant1211L → F in SCCD.
VAR_043718
Natural variant1711S → P in SCCD.
VAR_043719
Natural variant1751T → I in SCCD.
VAR_043720
Natural variant1771G → R in SCCD.
VAR_043721
Natural variant1861G → R in SCCD.
VAR_043722
Natural variant2321N → S in SCCD.
VAR_043723
Natural variant2361D → E in SCCD.
VAR_043724

Experimental info

Sequence conflict1631I → V in BAD96528. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1999. Version 1.
Checksum: 02808542DB9EA249

FASTA33836,831
        10         20         30         40         50         60 
MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV LALRPWSFSA 

        70         80         90        100        110        120 
SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL VNTYYDFSKG IDHKKSDDRT 

       130        140        150        160        170        180 
LVDRILEPQD VVRFGVFLYT LGCVCAACLY YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF 

       190        200        210        220        230        240 
KYVALGDLII LITFGPLAVM FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD 

       250        260        270        280        290        300 
REAGIVTLAI LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF 

       310        320        330 
RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI 

« Hide

Isoform 2 [UniParc].

Checksum: 78C76B7F91C92017
Show »

17919,482

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]"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. expand/collapse author list , 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: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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.
[6]"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.
[7]"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.
[8]"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.
[9]"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 146:952-964(2008) [PubMed: 18361459] [Abstract]
Cited for: VARIANTS SCCD SER-102; GLY-118; PHE-121; PRO-171; ILE-175; ARG-177; ARG-186 AND GLU-236.
+Additional computationally mapped references.

Cross-references

Sequence databases

AF117064 mRNA. Translation: AAD27581.1.
BT006832 mRNA. Translation: AAP35478.1.
AK222808 mRNA. Translation: BAD96528.1.
AL031291 Genomic DNA. Translation: CAI22837.1.
AL031291 Genomic DNA. Translation: CAI22838.1.
BC004468 mRNA. Translation: AAH04468.1.
RefSeqNP_037451.1.
UniGeneHs.522933

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000120942. Homo sapiens. [Contig view]
GeneID29914.
KEGGhsa:29914.
NMPDRfig|9606.3.peg.270.

Organism-specific databases

H-InvDBHIX0000123.
HGNCHGNC:30791. UBIAD1.
MIM121800. phenotype.
611632. gene.
Orphanet98967. Corneal dystrophy, crystalline, of Schnyder.
PharmGKBPA142670660.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ9Y5Z9.
HOVERGENQ9Y5Z9.

Gene expression databases

ArrayExpressQ9Y5Z9.
CleanExHS_UBIAD1.
GermOnlineENSG00000120942. Homo sapiens.

Family and domain databases

InterProIPR000537. UbiA_prenyltrans.
[Graphical view]
PfamPF01040. UbiA. 1 hit.
[Graphical view]
PROSITEPS00943. UBIA. False negative.
[Graphical view]
BLOCKSSearch...
ProtoNetSearch...

Other Resources

NextBio52502.
SOURCESearch...

Entry information

Entry nameUBIA1_HUMAN
AccessionPrimary (citable) accession number: Q9Y5Z9
Secondary accession number(s): Q53GX3, Q5THD4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: November 1, 1999
Last modified: November 4, 2008
This is version 48 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents