LOCUS       NM_013319               3654 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1),
            transcript variant 1, mRNA.
ACCESSION   NM_013319
VERSION     NM_013319.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3654)
  AUTHORS   Arslanbaeva,L., Tosi,G., Ravazzolo,M., Simonato,M., Tucci,F.A.,
            Pece,S., Cogo,P. and Santoro,M.M.
  TITLE     UBIAD1 and CoQ10 protect melanoma cells from lipid
            peroxidation-mediated cell death
  JOURNAL   Redox Biol 51, 102272 (2022)
   PUBMED   35255427
  REMARK    GeneRIF: UBIAD1 and CoQ10 protect melanoma cells from lipid
            peroxidation-mediated cell death.
REFERENCE   2  (bases 1 to 3654)
  AUTHORS   Xie,J. and Li,L.
  TITLE     Functional study of SCCD pathogenic gene UBIAD1 (Review)
  JOURNAL   Mol Med Rep 24 (4) (2021)
   PUBMED   34368857
  REMARK    GeneRIF: Functional study of SCCD pathogenic gene UBIAD1 (Review).
REFERENCE   3  (bases 1 to 3654)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3654)
  AUTHORS   Jun,D.J., Schumacher,M.M., Hwang,S., Kinch,L.N., Grishin,N.V. and
            DeBose-Boyd,R.A.
  TITLE     Schnyder corneal dystrophy-associated UBIAD1 is defective in MK-4
            synthesis and resists autophagy-mediated degradation
  JOURNAL   J Lipid Res 61 (5), 746-757 (2020)
   PUBMED   32188638
  REMARK    GeneRIF: Schnyder corneal dystrophy-associated UBIAD1 is defective
            in MK-4 synthesis and resists autophagy-mediated degradation.
REFERENCE   5  (bases 1 to 3654)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 3654)
  AUTHORS   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. and
            Samuels,M.
  TITLE     Mutations in the UBIAD1 gene, encoding a potential
            prenyltransferase, are causal for Schnyder crystalline corneal
            dystrophy
  JOURNAL   PLoS One 2 (8), e685 (2007)
   PUBMED   17668063
  REMARK    GeneRIF: Data suggest that UBIAD1 encodes a potential
            prenyltransferase, and may play a direct role in intracellular
            cholesterol biochemistry, or may prenylate other proteins
            regulating cholesterol transport and storage.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3654)
  AUTHORS   McGarvey,T.W., Nguyen,T.B. and Malkowicz,S.B.
  TITLE     An interaction between apolipoprotein E and TERE1 with a possible
            association with bladder tumor formation
  JOURNAL   J Cell Biochem 95 (2), 419-428 (2005)
   PUBMED   15782423
  REMARK    GeneRIF: The objective of this study was to gain further insight
            into the function of the TERE1 protein by identifying potential
            protein to protein interactions with TERE1
REFERENCE   8  (bases 1 to 3654)
  AUTHORS   McGarvey,T.W., Nguyen,T., Puthiyaveettil,R., Tomaszewski,J.E. and
            Malkowicz,S.B.
  TITLE     TERE1, a novel gene affecting growth regulation in prostate
            carcinoma
  JOURNAL   Prostate 54 (2), 144-155 (2003)
   PUBMED   12497587
  REMARK    GeneRIF: TERE1 maybe significant in prostate cancer growth
            regulation and the down regulation or absence of TERE1 may be an
            important component of the phenotype of advanced disease
REFERENCE   9  (bases 1 to 3654)
  AUTHORS   McGarvey,T.W., Nguyen,T., Tomaszewski,J.E., Monson,F.C. and
            Malkowicz,S.B.
  TITLE     Isolation and characterization of the TERE1 gene, a gene
            down-regulated in transitional cell carcinoma of the bladder
  JOURNAL   Oncogene 20 (9), 1042-1051 (2001)
   PUBMED   11314041
REFERENCE   10 (bases 1 to 3654)
  AUTHORS   Shearman,A.M., Hudson,T.J., Andresen,J.M., Wu,X., Sohn,R.L.,
            Haluska,F., Housman,D.E. and Weiss,J.S.
  TITLE     The gene for schnyder's crystalline corneal dystrophy maps to human
            chromosome 1p34.1-p36
  JOURNAL   Hum Mol Genet 5 (10), 1667-1672 (1996)
   PUBMED   8894705
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK222808.1, BC004468.2,
            AK074890.1, BX507524.1 and AA505091.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_013319.2.
            
            Summary: This gene encodes a protein thought to be involved in
            cholesterol and phospholipid metabolism. Mutations in this gene are
            associated with Schnyder crystalline corneal dystrophy. [provided
            by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853564.195.1, AK222808.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376810.6/ ENSP00000366006.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-308               AK222808.1         1-308
            309-1505            BC004468.2         1-1197
            1506-1617           AK222808.1         1506-1617
            1618-3148           AK074890.1         1611-3141
            3149-3479           BX507524.1         178-508             c
            3480-3654           AA505091.1         34-208              c
FEATURES             Location/Qualifiers
     source          1..3654
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..3654
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /note="UbiA prenyltransferase domain containing 1"
                     /db_xref="GeneID:29914"
                     /db_xref="HGNC:HGNC:30791"
                     /db_xref="MIM:611632"
     exon            1..863
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             335..1351
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /EC_number="2.5.1.39"
                     /note="isoform 1 is encoded by transcript variant 1; ubiA
                     prenyltransferase domain-containing protein 1;
                     transitional epithelia response protein; transitional
                     epithelial response protein 1"
                     /codon_start=1
                     /product="ubiA prenyltransferase domain-containing protein
                     1 isoform 1"
                     /protein_id="NP_037451.1"
                     /db_xref="CCDS:CCDS129.1"
                     /db_xref="GeneID:29914"
                     /db_xref="HGNC:HGNC:30791"
                     /db_xref="MIM:611632"
                     /translation="MAASQVLGEKINILSGETVKAGDRDPLGNDCPEQDRLPQRSWRQ
                     KCASYVLALRPWSFSASLTPVALGSALAYRSHGVLDPRLLVGCAVAVLAVHGAGNLVN
                     TYYDFSKGIDHKKSDDRTLVDRILEPQDVVRFGVFLYTLGCVCAACLYYLSPLKLEHL
                     ALIYFGGLSGSFLYTGGIGFKYVALGDLIILITFGPLAVMFAYAIQVGSLAIFPLVYA
                     IPLALSTEAILHSNNTRDMESDREAGIVTLAILIGPTFSYILYNTLLFLPYLVFSILA
                     THCTISLALPLLTIPMAFSLERQFRSQAFNKLPQRTAKLNLLLGLFYVFGIILAPAGS
                     LPKI"
     exon            864..3654
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1474..1479
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /note="hexamer: TATAAA"
     polyA_site      1505
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /note="major polyA site"
     regulatory      3627..3632
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
                     /note="hexamer: ATTAAA"
     polyA_site      3654
                     /gene="UBIAD1"
                     /gene_synonym="SCCD; TERE1"
ORIGIN      
        1 gtttccgggc gggcctccag aggccggcgc acaagatggc ggctctggcg gcctaaagaa
       61 ggcggccgcg gctcagccgt gggctctaac gcggggctgg gggccggaga cagacttcgc
      121 ccaggtgacg ggtagtaggg gcggcgccgc ttggcctcgt ggggtgtaag acccacttgc
      181 tgttgccccc ggaccttgcc gccacaccag ccctgtcctg gggcggaacc gaaggaaggt
      241 cgggccctgc tgccccgccc cgtccttcct ccttcccggg cggtcactgt gcgtggctca
      301 cttttagagt ttacttcaac cacgtggagc ttccatggcg gcctctcagg tcctggggga
      361 gaagattaac atcctgtcgg gagagactgt caaagctggg gacagggacc cgctggggaa
      421 cgactgtccc gagcaagata ggctccccca gcgctcctgg aggcagaagt gtgcctccta
      481 cgtgttggcc ctgaggccct ggagcttcag tgcctcactc acaccggtgg ccctgggcag
      541 tgcccttgcc tacagatccc acggtgtcct ggatcccagg ctcttggtgg gttgtgccgt
      601 ggctgtcctg gctgtgcacg gggccggtaa tttggtcaac acttactatg acttttccaa
      661 gggcattgac cacaaaaaga gtgatgacag gacacttgtg gaccgaatct tggagccgca
      721 ggatgtcgtc cggttcggag tcttcctcta cacgttgggc tgcgtctgtg ccgcttgcct
      781 ctactacctg tcccctctga aactggagca cttggctctt atctactttg gaggcctgtc
      841 tggctccttt ctctacacag gaggaattgg attcaagtac gtggctctgg gagacctcat
      901 catcctcatc acttttggcc cgctggctgt gatgttcgcc tacgccatcc aggtggggtc
      961 cctggccatc ttcccactgg tctatgccat ccccctcgcc ctcagcaccg aggccattct
     1021 ccattccaac aacaccaggg acatggagtc cgaccgggag gctggtatcg tcacgctggc
     1081 catcctcatc ggccccacgt tctcctacat tctctacaac acactgctct tcctgcccta
     1141 cctggtcttc agcatcctgg ccacacactg caccatcagc ctggcactcc ccctgcttac
     1201 cattcccatg gccttctccc ttgagagaca gtttcgaagc caggccttca acaaactgcc
     1261 ccagaggact gccaagctca acctcctgct gggacttttc tatgtctttg gcatcattct
     1321 ggcaccagca ggcagtctgc ccaaaattta aggggacaag tagctccccc cacgacatgt
     1381 ctccctttct tagaatatat taaagtcaga gtctctgagg aaggaatgtg atttggcagt
     1441 cagggtacta agcatgggtg ggaactcctg ccttataaaa attgtttttg tgttcttaaa
     1501 gataatatgt tgtttttctg ttttttgttt tttccatttt atggggaatt taaaaaccat
     1561 tcttgtatca gaaggtgaat taggcgcatg gtctttgttt tattaataat ttccactaga
     1621 gggtgttctc aggtcacttt gcagtgaagt ggacttagtt cctccttgtt ctgtacaaaa
     1681 tgtctccaga ctttgtaaag gagctgccca gtttggcctc ctgtcccgaa aagaccctaa
     1741 taactaggca gagtgttgtc ctgctttctt cgtctcgtag gatgtgctat gattggtgcc
     1801 aggcctcact aacacagggg ctacctgtct cttattctca gcacctgtgt cctgagatac
     1861 gctgcctgag acagagagag tccctcatta acagcctgtg tggctgtcag ctttttgcct
     1921 aaattgtgat tcagatgctt ttgttctctc tcctttcact tattgccaca gttgaggaaa
     1981 agtgtcagat taccctgcag caagacaagc caaggactgg gagggaaaaa aaaaccactc
     2041 tggaggcaac tgagaaaatc actgcttttg gataggaatc agtagggtgg ctgttttccc
     2101 tttgttgaat ctactagagt gacaggaagg actcccagcc ctttcagtaa ctatcaggag
     2161 ccctgaaacg gtagaggcac tgccatcctt gtgggatact caaagcccac agggcttttc
     2221 cctccctatt gcatcttctg atgctcccca cacctaccct ccacctctcc acctctgtgg
     2281 tgttcccatt tgtgtgtttc ccatctgtgg agccagactg agcaatagct tagcagcgag
     2341 tcagggacag ctgccacttt ccacagagcc acaggatggg cagagcaggg acccagggaa
     2401 tgaatagcca gtggacaaac agtcttgagc tctgttcagc cagagtgatg ggccctgcca
     2461 gttaaggggc tgtgtcttca tccttgaaga cagatgtgca atattgaccc tgcctctccc
     2521 cagggctttg tggaaagata gttgagggct ttagtgagat cacactcaga gtggggcaat
     2581 tccagcattt atcctggctg cgtttcattg cattgtctgt gaagtataat ttctgggcca
     2641 gaattgctca gttgcatttg atccaggact atagattgga aatgggtcat cattgttttc
     2701 tgttgtgatt atagccattc tagtaggcgt ttaaggtcat ggcctgcaga aaatgatgta
     2761 agaactagtt cttaatcttt cagatcaagc taatgatgat atggaacctt gagttcgaat
     2821 tgattggttt acttggaaaa aaacatgttt gaaaattgca aaagttccgc cgggcgcggt
     2881 ggctcatgcc tgtaatccca gcactttggg aggccgagac gggcggatca cgaggtcagg
     2941 agatcgagac catcttggct aacacggtga aaccccgttt ctactaaaaa tacaaaaaat
     3001 tagccaggcg tgttggcggg cgcctgtagt cccagctacc tgggcggctg aggcaggagc
     3061 atggcgtgaa cccaggaggc ggagcttgca gtgagctgag atcatgccac tgcactccaa
     3121 cctgggggac acagcaagac tccgtctcaa aaaaaaaaaa agaaaaagaa aattgcaaaa
     3181 gttcctctaa agttaaatca aaggtggttt gtctagcaga gagccagaat cttctaatag
     3241 tgggcagagc ccagagacaa ggggaagaaa gatgaccttc tccccagtcc ttcccagcac
     3301 catttttgtt tcacaccagg cttgtggcat tttggtgctc acaggggttt tgccttctga
     3361 cctctccttg gagtaggcca ttctcatgca gggctcaccc tgaggcagga ggaccaaggg
     3421 ctccctgcgt ccacggacca cgtatgcctt ggtggtcact cccatcgggg ctatcagttc
     3481 tgcactgtgc cctggtgcgg attttaatgc atatttttat atataaatgt tcccaaaggc
     3541 caaatttgtt gccaggtttt atacgcaggt caccataatt tgtattatgt tccctgagtc
     3601 aatgaaggtt ttctttagac ttcttaatta aaaagagaag aaagaaaatg ttca
//
