LOCUS       NM_001144072            2259 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 1,
            mRNA.
ACCESSION   NM_001144072
VERSION     NM_001144072.2
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 2259)
  AUTHORS   Wan,L., Zhang,L., Sun,P., Han,L., Zhang,H., Zhu,B. and Wang,B.
  TITLE     Association between UBAC2 gene polymorphism and the risk of
            noise-induced hearing loss: a cross-sectional study
  JOURNAL   Environ Sci Pollut Res Int 29 (22), 32947-32958 (2022)
   PUBMED   35020141
  REMARK    GeneRIF: Association between UBAC2 gene polymorphism and the risk
            of noise-induced hearing loss: a cross-sectional study.
REFERENCE   2  (bases 1 to 2259)
  AUTHORS   Gu,C., Zhao,K., Zhou,N., Liu,F., Xie,F., Yu,S., Feng,Y., Chen,L.,
            Yang,J., Tian,F. and Jiang,G.
  TITLE     UBAC2 promotes bladder cancer proliferation through
            BCRC-3/miRNA-182-5p/p27 axis
  JOURNAL   Cell Death Dis 11 (9), 733 (2020)
   PUBMED   32913183
  REMARK    GeneRIF: UBAC2 promotes bladder cancer proliferation through
            BCRC-3/miRNA-182-5p/p27 axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2259)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2259)
  AUTHORS   Choi,J.H., Zhong,X., McAlpine,W., Liao,T.C., Zhang,D., Fang,B.,
            Russell,J., Ludwig,S., Nair-Gill,E., Zhang,Z., Wang,K.W.,
            Misawa,T., Zhan,X., Choi,M., Wang,T., Li,X., Tang,M., Sun,Q.,
            Yu,L., Murray,A.R., Moresco,E.M.Y. and Beutler,B.
  TITLE     LMBR1L regulates lymphopoiesis through Wnt/beta-catenin signaling
  JOURNAL   Science 364 (6440) (2019)
   PUBMED   31073040
REFERENCE   5  (bases 1 to 2259)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2259)
  AUTHORS   Christianson,J.C., Olzmann,J.A., Shaler,T.A., Sowa,M.E.,
            Bennett,E.J., Richter,C.M., Tyler,R.E., Greenblatt,E.J.,
            Harper,J.W. and Kopito,R.R.
  TITLE     Defining human ERAD networks through an integrative mapping
            strategy
  JOURNAL   Nat Cell Biol 14 (1), 93-105 (2011)
   PUBMED   22119785
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2259)
  AUTHORS   Sawalha,A.H., Hughes,T., Nadig,A., Yilmaz,V., Aksu,K., Keser,G.,
            Cefle,A., Yazici,A., Ergen,A., Alarcon-Riquelme,M.E., Salvarani,C.,
            Casali,B., Direskeneli,H. and Saruhan-Direskeneli,G.
  TITLE     A putative functional variant within the UBAC2 gene is associated
            with increased risk of Behcet's disease
  JOURNAL   Arthritis Rheum 63 (11), 3607-3612 (2011)
   PUBMED   21918955
  REMARK    GeneRIF: We established and confirmed the genetic association
            between UBAC2 and Behcet's disease in 3 independent sets of
            patients and controls
REFERENCE   8  (bases 1 to 2259)
  AUTHORS   Nan,H., Xu,M., Kraft,P., Qureshi,A.A., Chen,C., Guo,Q., Hu,F.B.,
            Curhan,G., Amos,C.I., Wang,L.E., Lee,J.E., Wei,Q., Hunter,D.J. and
            Han,J.
  TITLE     Genome-wide association study identifies novel alleles associated
            with risk of cutaneous basal cell carcinoma and squamous cell
            carcinoma
  JOURNAL   Hum Mol Genet 20 (18), 3718-3724 (2011)
   PUBMED   21700618
REFERENCE   9  (bases 1 to 2259)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   10 (bases 1 to 2259)
  AUTHORS   Christian,S.L., McDonough,J., Liu Cy,C.Y., Shaikh,S., Vlamakis,V.,
            Badner,J.A., Chakravarti,A. and Gershon,E.S.
  TITLE     An evaluation of the assembly of an approximately 15-Mb region on
            human chromosome 13q32-q33 linked to bipolar disorder and
            schizophrenia
  JOURNAL   Genomics 79 (5), 635-656 (2002)
   PUBMED   11991713
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK290342.1, AK075419.1, BC072674.1, AI866141.1 and AL136961.19.
            
            On May 17, 2019 this sequence version replaced NM_001144072.1.
            
            Transcript Variant: This variant (1) encodes the longer 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 :: AK075419.1, SRR1803614.189803.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403766.8/ ENSP00000383911.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               AK290342.1         430-773
            345-1733            AK075419.1         345-1733
            1734-2183           BC072674.1         1299-1748
            2184-2254           AI866141.1         14-84               c
            2255-2259           AL136961.19        34464-34468
FEATURES             Location/Qualifiers
     source          1..2259
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q32.3"
     gene            1..2259
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /note="UBA domain containing 2"
                     /db_xref="GeneID:337867"
                     /db_xref="HGNC:HGNC:20486"
     exon            1..86
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1090
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; phosphoglycerate dehydrogenase like 1;
                     ubiquitin-associated domain-containing protein 2;
                     phosphoglycerate dehydrogenase-like protein 1; UBA
                     domain-containing protein 2; RP11-178C10.1"
                     /codon_start=1
                     /product="ubiquitin-associated domain-containing protein 2
                     isoform 1 precursor"
                     /protein_id="NP_001137544.1"
                     /db_xref="CCDS:CCDS45064.1"
                     /db_xref="GeneID:337867"
                     /db_xref="HGNC:HGNC:20486"
                     /translation="MFTSTGSSGLYKAPLSKSLLLVPSALSLLLALLLPHCQKLFVYD
                     LHAVKNDFQIWRLICGRIICLDLKDTFCSSLLIYNFRIFERRYGSRKFASFLLGSWVL
                     SALFDFLLIEAMQYFFGITAASNLPSGFLAPVFALFVPFYCSIPRVQVAQILGPLSIT
                     NKTLIYILGLQLFTSGSYIWIVAISGLMSGLCYDSKMFQVHQVLCIPSWMAKFFSWTL
                     EPIFSSSEPTSEARIGMGATLDIQRQQRMELLDRQLMFSQFAQGRRQRQQQGGMINWN
                     RLFPPLRQRQNVNYQGGRQSEPAAPPLEVSEEQVARLMEMGFSRGDALEALRASNNDL
                     NVATNFLLQH"
     exon            87..214
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            215..334
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            335..444
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            445..568
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            569..616
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            617..862
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            863..982
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     exon            983..2259
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2161..2166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /note="hexamer: AATAAA"
     polyA_site      2183
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /note="major polyA site"
     regulatory      2215..2220
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
                     /note="hexamer: AATAAA"
     polyA_site      2259
                     /gene="UBAC2"
                     /gene_synonym="PHGDHL1"
ORIGIN      
        1 gcacttcagc ttcccctccc ccggcgccct ctggggctcc gagcccggcg ggaccatgtt
       61 caccagcacc ggctccagtg ggctctacaa ggcgcctctg tcgaagagcc ttctgctggt
      121 ccccagtgcc ctctccctcc tgctcgccct cctcctgcct cactgccaga agctctttgt
      181 gtatgacctt cacgcagtca agaacgactt ccagatttgg aggttgatat gtggaagaat
      241 aatttgcctt gatttgaaag atactttctg cagtagtctg cttatttata attttaggat
      301 atttgaaaga agatatggaa gcagaaaatt tgcatccttt ttgctgggtt cctgggtttt
      361 gtcagcctta tttgactttc tcctcattga agctatgcag tatttctttg gcatcactgc
      421 agctagtaat ttgccttctg gattcctggc acctgtgttt gctctgtttg taccatttta
      481 ctgctccata ccaagagtcc aagtggcaca aattctgggt ccgttgtcca tcacaaacaa
      541 gacattgatt tatatattgg gactgcagct tttcacctct ggttcctaca tctggattgt
      601 agccataagt ggacttatgt ccggtctgtg ctacgacagc aaaatgttcc aggtgcatca
      661 ggtgctctgc atccccagct ggatggcaaa attcttttct tggacacttg aacccatctt
      721 ctcttcttca gaacccacca gcgaagccag aattgggatg ggagccacgc tggacatcca
      781 gagacagcag agaatggagc tgctggaccg gcagctgatg ttctctcagt ttgcacaagg
      841 gaggcgacag agacagcagc agggaggaat gatcaattgg aatcgtcttt ttcctccttt
      901 acgtcagcga caaaacgtaa actatcaggg cggtcggcag tctgagccag cagcgccccc
      961 tctagaagtt tctgaggaac aggtcgcccg gctcatggag atgggatttt ccagaggtga
     1021 tgctttggaa gccctgagag cttcaaacaa tgacctcaat gtcgccacca acttcctgct
     1081 gcagcactga tagtcccagg ccaacactgg gaccggaccg gcagccgagt gacagtgcgt
     1141 ggtccccacc atcagatcag cccggggacc gagcatctct ggtgctgatg ttcttgtggg
     1201 aagagggagg ttccaccgca cccctgccct caaccgcaag actgttgccg ttttagtgtg
     1261 gagataagtt tgccattaca ttagcatgta ttttctatct atatttttta ttgggcattt
     1321 tccctaggtt ggagagtcag cactcgtttt gaatgtgttt aaaatgcatt aaaatggaag
     1381 atttctgcag gcagttgaat ggcactccag atggggaatt gctgtaaccc tcttactgta
     1441 acatgtcatc tcctgcgtcg tgatggggag agggtaatgt tacttcacaa aggacatgtc
     1501 agatccttct tcatggactt ttttagttac tgttttttct ctcaaacttg ttttcgaatc
     1561 tcctgggagt gagggagaaa cagggagctg aatcctcccc caagctgttc caggccagag
     1621 gactctgcag taccttctcc tacatctagt aacaaagaat ggtgataacc atgcactggt
     1681 tcaaggttct ggagttctcc atgaaacttg ggttaatttt gctcagagta tccagagtta
     1741 gccactaggc tgcgggtgaa atgggatgga gaagaacaac agcaggcttc ctggagccac
     1801 atgggctgac tagggcactc tgtggctggc ctggcatggg ctcagcccag gaagaggaga
     1861 aacgatccct tgcctgcccc tccctgtggc agggctaact gcctggccct cctggctcgc
     1921 agccagccag ccccctggca gcaggttctc ctcagggctt gggtcttcaa cctgtggcga
     1981 caggaggcag ggcagactgt ggaggacagg atgcaggtca gggagaggga aggcaggggt
     2041 ggaccgccat gagcatgaaa agacccgaag caagttgact cttgcaatgt gcaactgtta
     2101 tgttctgcaa aatgagcaac gatgtatcaa attgatgcaa atttagatgt tgatacttac
     2161 aataaagttt ttaatgtgtt ttactcttca gtatttttct atcagacttg tacaaataaa
     2221 gccttgttcc aggctataca tatttaccag tcaaccaaa
//
