Reviewed, UniProtKB/Swiss-Prot Q9Y5Z9 (UBIA1_HUMAN)

Names and origin

Protein names

Recommended name:
    UbiA prenyltransferase domain-containing protein 1
Alternative name(s):
    Transitional epithelial response protein 1

Gene names

Name:	UBIAD1
Synonyms:	TERE1

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 not processed.
Protein existence	Evidence 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 component	Cytoplasm Membrane Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Transmembrane
Gene Ontology (GO)
Cellular component	cytoplasm 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 338	338	UbiA prenyltransferase domain-containing protein 1		PRO_0000242627
Regions
	Transmembrane	83 – 103	21	Potential
	Transmembrane	134 – 154	21	Potential
	Transmembrane	160 – 180	21	Potential
	Transmembrane	188 – 208	21	Potential
	Transmembrane	209 – 229	21	Potential
	Transmembrane	245 – 267	23	Potential
	Transmembrane	277 – 297	21	Potential
	Transmembrane	315 – 335	21	Potential
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		VAR_043713
	Natural variant	102	1	N → S in SCCD.		VAR_043714
	Natural variant	112	1	D → G in SCCD.		VAR_043715
	Natural variant	118	1	D → G in SCCD.		VAR_043716
	Natural variant	119	1	R → G in SCCD.		VAR_043717
	Natural variant	121	1	L → F in SCCD.		VAR_043718
	Natural variant	171	1	S → P in SCCD.		VAR_043719
	Natural variant	175	1	T → I in SCCD.		VAR_043720
	Natural variant	177	1	G → R in SCCD.		VAR_043721
	Natural variant	186	1	G → R in SCCD.		VAR_043722
	Natural variant	232	1	N → S in SCCD.		VAR_043723
	Natural variant	236	1	D → E in SCCD.		VAR_043724
Experimental info
	Sequence conflict	163	1	I → V in BAD96528. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 02808542DB9EA249	FASTA	338	36,831
	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
	Isoform 2 [UniParc]. Checksum: 78C76B7F91C92017		179	19,482
	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 LVDRILEPQD VVRFGVFLYT LGCVCAACLY YLSPLKLEHL ALIYFGGLSG SFLYTGVLI

References

	« Hide 'large scale' referencesShow '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. , 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
EMBLGenBankDDBJ	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.
RefSeq	NP_037451.1.
UniGene	Hs.522933
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000120942. Homo sapiens. [Contig view]
GeneID	29914.
KEGG	hsa:29914.
NMPDR	fig|9606.3.peg.270.
Organism-specific databases
H-InvDB	HIX0000123.
HGNC	HGNC:30791. UBIAD1.
MIM	121800. phenotype. 611632. gene.
Orphanet	98967. Corneal dystrophy, crystalline, of Schnyder.
PharmGKB	PA142670660.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q9Y5Z9.
HOVERGEN	Q9Y5Z9.
Gene expression databases
ArrayExpress	Q9Y5Z9.
CleanEx	HS_UBIAD1.
GermOnline	ENSG00000120942. Homo sapiens.
Family and domain databases
InterPro	IPR000537. UbiA_prenyltrans. [Graphical view]
Pfam	PF01040. UbiA. 1 hit. [Graphical view]
PROSITE	PS00943. UBIA. False negative. [Graphical view]
BLOCKS	Search...
ProtoNet	Search...
Other Resources
NextBio	52502.
SOURCE	Search...

Entry information

Entry name

UBIA1_HUMAN

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)