LOCUS       NM_001286068            4158 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens chromosome 11 open reading frame 54 (C11orf54),
            transcript variant 2, mRNA.
ACCESSION   NM_001286068 XM_005273936
VERSION     NM_001286068.2
KEYWORDS    RefSeq.
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 4158)
  AUTHORS   Tan,J., Wang,W., Liu,X., Xu,J., Che,Y., Liu,Y., Hu,J., Hu,L., Li,J.
            and Zhou,Q.
  TITLE     C11orf54 promotes DNA repair via blocking CMA-mediated degradation
            of HIF1A
  JOURNAL   Commun Biol 6 (1), 606 (2023)
   PUBMED   37277441
  REMARK    GeneRIF: C11orf54 promotes DNA repair via blocking CMA-mediated
            degradation of HIF1A.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4158)
  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   3  (bases 1 to 4158)
  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   4  (bases 1 to 4158)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 4158)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 4158)
  AUTHORS   Manjasetty,B.A., Bussow,K., Fieber-Erdmann,M., Roske,Y., Gobom,J.,
            Scheich,C., Gotz,F., Niesen,F.H. and Heinemann,U.
  TITLE     Crystal structure of Homo sapiens PTD012 reveals a zinc-containing
            hydrolase fold
  JOURNAL   Protein Sci 15 (4), 914-920 (2006)
   PUBMED   16522806
REFERENCE   7  (bases 1 to 4158)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK225977.1, AK292215.1, BC012298.1, AA864999.1 and AP001273.4.
            
            On Jun 2, 2019 this sequence version replaced NM_001286068.1.
            
            Transcript Variant: This variant (2) lacks an exon and uses an
            alternate splice site in the 5' UTR, compared to variant 1.
            Variants 1-3 and 7-11 all encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.281117.1,
                                           SRR1803615.164224.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-537               AK225977.1         14-550
            538-1397            AK292215.1         672-1531
            1398-2110           BC012298.1         1298-2010
            2111-2511           AA864999.1         4-404               c
            2512-4158           AP001273.4         35431-37077
FEATURES             Location/Qualifiers
     source          1..4158
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q21"
     gene            1..4158
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="chromosome 11 open reading frame 54"
                     /db_xref="GeneID:28970"
                     /db_xref="HGNC:HGNC:30204"
                     /db_xref="MIM:615810"
     exon            1..57
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            58..204
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..1097
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="isoform a is encoded by transcript variant 2; ester
                     hydrolase C11orf54; epididymis secretory sperm binding
                     protein"
                     /codon_start=1
                     /product="ester hydrolase C11orf54 isoform a"
                     /protein_id="NP_001272997.1"
                     /db_xref="CCDS:CCDS66204.1"
                     /db_xref="GeneID:28970"
                     /db_xref="HGNC:HGNC:30204"
                     /db_xref="MIM:615810"
                     /translation="MACAEFSFHVPSLEELAGVMQKGLKDNFADVQVSVVDCPDLTKE
                     PFTFPVKGICGKTRIAEVGGVPYLLPLVNQKKVYDLNKIAKEIKLPGAFILGAGAGPF
                     QTLGFNSEFMPVIQTESEHKPPVNGSYFAHVNPADGGCLLEKYSEKCHDFQCALLANL
                     FASEGQPGKVIEVKAKRRTGPLNFVTCMRETLEKHYGNKPIGMGGTFIIQKGKVKSHI
                     MPAEFSSCPLNSDEEVNKWLHFYEMKAPLVCLPVFVSRDPGFDLRLEHTHFFSRHGEG
                     GHYHYDTTPDIVEYLGYFLPAEFLYRIDQPKETHSIGRD"
     exon            205..303
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            304..377
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            378..479
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            480..656
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            657..806
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            807..923
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     exon            924..4158
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1093..1098
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="hexamer: ATTAAA"
     polyA_site      1122
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="major polyA site"
     regulatory      2473..2478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="hexamer: AATAAA"
     polyA_site      2493
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
                     /note="major polyA site"
     polyA_site      3863
                     /gene="C11orf54"
                     /gene_synonym="MEEP; PTD012; PTOD012"
ORIGIN      
        1 ggggttggcc taggcgaaga tccggactct gggtgttttg ctaccgtgac cgtttagaaa
       61 ctgttcatac ttggtgcgct gtggactctt gtgataatta accaagagta gctctatttg
      121 tccaacctca cacctaaaga agaaagaaaa tggcttgtgc tgagttttct tttcatgtac
      181 caagtcttga agagcttgct ggagttatgc agaaggggtt aaaagataac tttgctgatg
      241 tccaggtctc tgtagttgat tgccctgatt tgactaagga accctttacc tttcctgtaa
      301 aaggcatctg tgggaaaact agaattgcag aagttggagg tgtgccttac ttattgcctc
      361 ttgtaaacca aaaaaaagtt tatgatctga ataaaattgc aaaagaaatc aagctgcctg
      421 gagcctttat tcttggagca ggagcaggtc catttcagac tctcgggttc aattctgagt
      481 ttatgccagt tattcagaca gaaagtgaac acaagcctcc tgtaaatgga agttactttg
      541 cccatgtgaa ccctgcagat ggagggtgcc tactggagaa atacagtgag aaatgtcatg
      601 attttcagtg tgcattactg gctaatcttt ttgccagtga aggccaacct ggcaaggtaa
      661 ttgaggtgaa agccaaaaga agaactggac cacttaactt tgtgacttgt atgagagaga
      721 ccctggaaaa acattatgga aataagccta taggaatggg aggtactttc ataattcaga
      781 agggaaaagt gaagtctcac attatgcctg cagaattttc ttcctgcccc ttgaactctg
      841 atgaagaagt gaataaatgg ttgcattttt atgaaatgaa agctcctttg gtttgtctac
      901 cagtttttgt ctccagagac ccagggtttg atttgcgact ggagcacact cattttttta
      961 gtcgtcatgg agaaggtgga cactaccatt atgacactac tccagatata gtggaatatc
     1021 ttggatactt cttacctgca gagtttctct atcgcattga tcaaccaaaa gagacgcatt
     1081 caattgggcg agattaaatc agctgatact tatttagaaa aagaaataat taaggttaat
     1141 taattgattg acttattaat taatactgat ataaaaccaa tagaaatgat cccacaggcc
     1201 aggcacaatg gctcatgcct ataatcccag cactttggga ggctgaggca ggaagcacac
     1261 tggagcccag gagtttgaga ccagcttggg caacatagca agaccctgtc tattttttta
     1321 aaaaagtaaa aaatagaaat tatctcacta cttaaatccc atttttttca cttcatatga
     1381 aagaacatat tgatagtata ttctatatta tttcatagat ctgtctgaaa gagattggga
     1441 acaaaaatat ctaattgaga tattctttaa ttttttacat agcagcttta ttttttttat
     1501 tctgtagtat cagcgaaatc agtcatgttt ataccttgaa tataaatatc aggaatcatg
     1561 caattatttc tactatgtat ttagtagtat cttatatttg tataacatta ttacattttg
     1621 caaattagta tcacaactgc taagtagatg tttctgagta ttagaaaaat cagtgttatt
     1681 acctgcagga tattaaaaaa catttgaaaa agagaaaaag aaaaatcagt gtttagaaat
     1741 gttgatagtt attgaatctt tgaattgaat tttaaaaatc cattctagta atcagagtat
     1801 acttttttta tagaacaagg tggcaggtgg ggagcccttt acccttctgg tgaagttaaa
     1861 ccatagaagt ttacaatttg cctttcacaa acattagcag tccgggcatg gtggctgaag
     1921 cctgtgatcc cagcatgttg ggaggccgag tgggaggatt gcctgagcct aggagtttaa
     1981 accagcctgg gcaccatggt gagaccccat ctctattatt taaaatgttt cttaaataaa
     2041 aaaaacacaa acattagcaa ctagttggct agccataatt cctcccttgt ttcgattgcc
     2101 agttagaagc aatttttatt tcactggtta tttgcaagag aaggggtaaa aaaacagcat
     2161 cagagtgcaa cactgaagtg agcttacttt aatttgtaag tgaagctgtt gctgaacatg
     2221 accactatcg ttgctgaaat ataaaattat actcactgat tgtaatggtt gaaattttcc
     2281 tgaataatca ttagccaaag atcaactctc taatggtgct aatggcaatc tagctaatgt
     2341 gcaaatttag gaagtcttca gtactaagta cataattttc aaataatatt ttttaattgt
     2401 ctactttgga tgttagctat gtcttgtgag tataaattcc aattttaagc actattttga
     2461 tgcaaaaaaa tgaataaaaa atttaattta tgatatgttt gtaatatctt acctccagac
     2521 aaaataatat taatagtcta tcatttaaca aatatgtatt gaacacctac ccttctctct
     2581 ggagtgtaca cttcatgtgg gcaagggcct tgttcacgac tgtagcacta gtgcctttaa
     2641 ctgctagcaa agtagccact cggatgatta taccaaacac tttactaaag ctggggatct
     2701 gtctagtggg gaagacaaac aataaatata taatatgtca ggtggtatta aatgctatga
     2761 aaagaaagga gtagatggac tgtaaaggag gatgctattt ttttgtggcc atcccgcact
     2821 gagacaggat gcattccaca ctcaaaattt ggttcacatg tccagactga tagccaagtt
     2881 cagtggctca cgcctgtaat cctagtactt agggagacca aggcaggagg atcacttgag
     2941 gccaggagtt caaggccagc ctgggcaaca gagagagacc cccatctctg caaaaaaaga
     3001 aaaaaaattt tttaattatc tgggcatggt tgtgcacacc tgttgtccca gctgctcagg
     3061 aggctgaggc acgagaatca cttgagccca gaagttggag gctacagtga gctatgattg
     3121 tttcattgca ctgtagcctg ggcaacacag tgagaccctg tctcaaaaag aaaaaaaaaa
     3181 tgactgatga agccacacac acaccaacag agtatgaaag ggttgttact cacataatga
     3241 agctttctgg ggaaagcagg gcagctccta agcaggattt gacaacaggg aaggagactg
     3301 acttggagtt ttttggtggt tagggagtag ggccagagtg atgtttcttg catgtggttt
     3361 gaatttccca ctggtatcaa agaaggaaac acccaggctt gcttgcttta tttttttaaa
     3421 gagatggtgt ctcactatgt tgcccaggct gggctcaagt catcttcctg cctcggcctc
     3481 ccaaagtgct gggattacag gcatgggcca ccatgtctgg cgagcaccca ggctttctta
     3541 gcttgccaga ggtgtagggc ataaggggac gaggggtggg ataaggctta aaagccacca
     3601 gcagtcaaac ataaattaag tcagattctt aattacagat ttcagatctg atttcagatc
     3661 agagcttatt tcaggtcaga ttccaggtgt agagatcatc tgaagcagtc ctgggcctct
     3721 tcacactaca gataccaaca ctgcctttac tcttccatta gtgtcctcca aaatggggtg
     3781 catggacagc aggtacacat gaccttccaa ggggtgtggg aatattagaa catctattta
     3841 tatattttat ttcgtccttt taagtttctg tggttttgtg tacatttctt acgttaggga
     3901 tttcagttca aaattgtatt gctgatagac acaattcaaa aagcttggag accaggtaca
     3961 ttcacaccat ctaatagaga tgggggaaaa gatcaaaatg cttttctttt taaatttttt
     4021 cttagttttc tttctttata gagacagagt ttcgccgtgt tggccaggct gttctcgaac
     4081 tcctggcctc aagtgatctg cccgtctcag cctctcaaat tgctgggatt acaggcatga
     4141 ggcactgcac ctcaccca
//
