LOCUS       NM_024616               2237 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens chromosome 3 open reading frame 52 (C3orf52),
            transcript variant 2, mRNA.
ACCESSION   NM_024616
VERSION     NM_024616.3
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 2237)
  AUTHORS   Hayashi,R. and Shimomura,Y.
  TITLE     Update of recent findings in genetic hair disorders
  JOURNAL   J Dermatol 49 (1), 55-67 (2022)
   PUBMED   34676598
  REMARK    Review article
REFERENCE   2  (bases 1 to 2237)
  AUTHORS   Shah,K., Basit,S., Ali,G., Ramzan,K., Ansar,M. and Ahmad,W.
  TITLE     A novel homozygous frameshift variant in the C3orf52 gene
            underlying isolated hair loss in a consanguineous family
  JOURNAL   Eur J Dermatol 31 (3), 409-411 (2021)
   PUBMED   34309526
  REMARK    GeneRIF: A novel homozygous frameshift variant in the C3orf52 gene
            underlying isolated hair loss in a consanguineous family.
REFERENCE   3  (bases 1 to 2237)
  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 2237)
  AUTHORS   Malki,L., Sarig,O., Cesarato,N., Mohamad,J., Canter,T., Assaf,S.,
            Pavlovsky,M., Vodo,D., Anis,Y., Bihari,O., Malovitski,K., Gat,A.,
            Thiele,H., White,B.E.P., Samuelov,L., Nanda,A., Paller,A.S.,
            Betz,R.C. and Sprecher,E.
  TITLE     Loss-of-function variants in C3ORF52 result in localized autosomal
            recessive hypotrichosis
  JOURNAL   Genet Med 22 (7), 1227-1234 (2020)
   PUBMED   32336749
  REMARK    GeneRIF: Loss-of-function variants in C3ORF52 result in localized
            autosomal recessive hypotrichosis.
REFERENCE   5  (bases 1 to 2237)
  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 2237)
  AUTHORS   Chan,C.Y., Salabat,M.R., Ding,X.Z., Kelly,D.L., Talamonti,M.S.,
            Bell,R.H. Jr. and Adrian,T.E.
  TITLE     Identification and in silico characterization of a novel gene: TPA
            induced trans-membrane protein
  JOURNAL   Biochem Biophys Res Commun 329 (2), 755-764 (2005)
   PUBMED   15737651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC024887.22 and AC128688.4.
            
            On Feb 27, 2020 this sequence version replaced NM_024616.2.
            
            Transcript Variant: This variant (2) has two additional coding
            exons in the 3' region, as compared to variant 1. The resulting
            isoform (2) is shorter and has a different C-terminus, as compared
            to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY830714.1, BC017064.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264848.10/ ENSP00000264848.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-157               AC024887.22        30166-30322         c
            158-287             AC024887.22        23222-23351         c
            288-415             AC024887.22        13746-13873         c
            416-486             AC024887.22        7098-7168           c
            487-668             AC024887.22        3566-3747           c
            669-737             AC024887.22        1-69                c
            738-2237            AC128688.4         76515-78014         c
FEATURES             Location/Qualifiers
     source          1..2237
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q13.2"
     gene            1..2237
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /note="chromosome 3 open reading frame 52"
                     /db_xref="GeneID:79669"
                     /db_xref="HGNC:HGNC:26255"
                     /db_xref="MIM:611956"
     exon            1..157
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..673
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /note="isoform 2 is encoded by transcript variant 2; TPA
                     induced trans-membrane protein; novel endoplasmic
                     reticulum transmembrane protein; TPA-induced transmembrane
                     protein"
                     /codon_start=1
                     /product="TPA-induced transmembrane protein isoform 2"
                     /protein_id="NP_078892.3"
                     /db_xref="CCDS:CCDS46887.1"
                     /db_xref="GeneID:79669"
                     /db_xref="HGNC:HGNC:26255"
                     /db_xref="MIM:611956"
                     /translation="MDLAQPSQPVDELELSVLERQPEENTPLNGADKVFPSLDEEVPP
                     AEANKESPWSSCNKNVVGRCKLWMIITSIFLGVITVIIIGLCLAAVTYVDEDENEILE
                     LSSNKTFFIMLKIPEECVAEEELPHLLTERLTDVYSTSPSLGRYFTSVEIVDFSGENA
                     TVTYDLQFGVPSDDENFMKYMMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE"
     exon            158..287
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            288..415
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            416..486
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            487..668
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     exon            669..2237
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2176..2181
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /note="hexamer: AATGAA"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /note="hexamer: AATACA"
     polyA_site      2224
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
     polyA_site      2237
                     /gene="C3orf52"
                     /gene_synonym="HYPT15; TTMP"
                     /note="major polyA site"
ORIGIN      
        1 agactttccc tgccggcaca tggacctggc ccaaccctca cagccagtag acgagctgga
       61 gctctcggtg ctcgagcggc agccagaaga gaacacgcct ctcaatggtg ccgacaaggt
      121 cttcccttct ttggacgagg aggtcccccc ggccgaggct aacaaggaaa gcccctggag
      181 ctcctgtaat aagaatgtgg ttggaagatg caaactgtgg atgatcatca cctccatttt
      241 cctaggtgtc attacagtga tcatcatagg cttatgtctt gctgcagtaa cttatgttga
      301 tgaagatgaa aatgaaatac ttgaattatc atcaaacaaa acattcttca tcatgctgaa
      361 gattccagag gagtgtgttg ctgaagagga attgcctcac ctgctcaccg aaaggctcac
      421 agatgtgtac agtacatcgc cctctctggg tcgttatttt acttcagttg aaatagtgga
      481 cttcagtggt gaaaatgcca cagtaacgta tgacctgcaa tttggggttc catcagatga
      541 tgaaaatttt atgaagtata tgatgagtga ggagttggtg ctgggcattt tgctacagga
      601 tttccgtgat cagaatatac ctggttgtga gagtctgggg cttgatccaa catccctctt
      661 gctctatgaa tgaagtgatg gaggctggtc tctgtctgaa agcagtgctc taccaagtcc
      721 tggagatgaa gggaattcac tctgttttgc agaaaagatt ctgtggatta atacagaagc
      781 accagcaaca ccagaggggt ggagactcct ttctctcccg attctacagt ctggctctaa
      841 gcccagtaaa acagctcccg agcactgctt cagctgggtc cagtcttgac aaaggcagga
      901 agccagctag ggtgggggcg atagggtcag cgggtatgtc ccactgttgg aggtcactgg
      961 tattctgttt gtttttgttt tgtttcgttt tgttttttga gacagggtct cgttctgtcg
     1021 cttagctgga gtgcggtggc gtgatcatgg cactgctatt cttgaagcac tccacccacc
     1081 tgggctactt tttctttagt gcagaggtgc actgtcttct tttaggtggg atcgcgtaag
     1141 catgagctgg tagagcacgg agaggcaggc agccaggtta cgaagactaa gccaattatt
     1201 cactgaagtc atcctcctcc cccccaccat tcgatttgat ctacctctaa gccaggctgt
     1261 gaagaaaagg aaggcacttt agaagacctc agcagtgtgg ttctgtgtct acttccatga
     1321 cctgtacctg agtatcttag ccagccagcc ttaggaacac caccaaggtt actttgaaat
     1381 ctatgtatat agctagttac agacgggagc tatgtgtttc ttcattattt tgcagctcct
     1441 cgttgttcct gtgattcctg aacacctttt tggaaatatg ggtctctgtg agttttgagc
     1501 acactactat cactttggat agtcactcca tttatatttt tataaacttc cattagagaa
     1561 tcattaaggc tgtttaatat ctgctctgga tattacgcat tggctttttg ttgcctagtg
     1621 ctacaaacct tcctgtggga ctcagtgtct tcaggcaatg attgtgtatc ctgttacaga
     1681 tggttgtgat acaagaagaa ccactcttct ttgaaaataa actcttggaa gcttttgcca
     1741 gctatttggg gggtaggagg aatattagca actgtattgg ttgtctacag atacagaatt
     1801 gcctgttgtg agggaactga ttgttttgtt gggaaaagaa atttaccagg agaaagagtt
     1861 ttgtgctgta ttgtgagaga tctcgcctct cagttaaatg agccctgggt taaagtcagt
     1921 gtgaagggca gctgtgtgcg ggcacgagcc agagtgtctg cctcagacta gatttgactt
     1981 gagttcttta tgacccagga ctctggataa tgtgaatttg ctttcctatt taactagaag
     2041 atacatgtac tatagatcat tgtctcattt tagtgattgt tccttaaact agtgaaacta
     2101 gtggatttct cttcttcctc tttattttct gcatgttaaa tgtgaacctt agtgtatttg
     2161 tattttgtag aaaataatga aaaattttaa tggagaatga tttaaaaaca tttacaatac
     2221 attatttttg catctgt
//
