LOCUS       NM_001035005            5548 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens chromosome 18 open reading frame 32 (C18orf32),
            transcript variant 2, mRNA.
ACCESSION   NM_001035005
VERSION     NM_001035005.4
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 5548)
  AUTHORS   Salian,S., Guo,X.Y., Murakami,Y., Kinoshita,T., Kaur,P., Shukla,A.,
            Girisha,K.M., Fujita,M. and Campeau,P.M.
  TITLE     C18orf32 loss-of-function is associated with a neurodevelopmental
            disorder with hypotonia and contractures
  JOURNAL   Hum Genet 141 (8), 1423-1429 (2022)
   PUBMED   35107634
  REMARK    GeneRIF: C18orf32 loss-of-function is associated with a
            neurodevelopmental disorder with hypotonia and contractures.
REFERENCE   2  (bases 1 to 5548)
  AUTHORS   Liu,Y.S., Guo,X.Y., Hirata,T., Rong,Y., Motooka,D., Kitajima,T.,
            Murakami,Y., Gao,X.D., Nakamura,S., Kinoshita,T. and Fujita,M.
  TITLE     N-Glycan-dependent protein folding and endoplasmic reticulum
            retention regulate GPI-anchor processing
  JOURNAL   J Cell Biol 217 (2), 585-599 (2018)
   PUBMED   29255114
REFERENCE   3  (bases 1 to 5548)
  AUTHORS   Bersuker,K., Peterson,C.W.H., To,M., Sahl,S.J., Savikhin,V.,
            Grossman,E.A., Nomura,D.K. and Olzmann,J.A.
  TITLE     A Proximity Labeling Strategy Provides Insights into the
            Composition and Dynamics of Lipid Droplet Proteomes
  JOURNAL   Dev Cell 44 (1), 97-112 (2018)
   PUBMED   29275994
REFERENCE   4  (bases 1 to 5548)
  AUTHORS   Matsuda,A., Suzuki,Y., Honda,G., Muramatsu,S., Matsuzaki,O.,
            Nagano,Y., Doi,T., Shimotohno,K., Harada,T., Nishida,E., Hayashi,H.
            and Sugano,S.
  TITLE     Large-scale identification and characterization of human genes that
            activate NF-kappaB and MAPK signaling pathways
  JOURNAL   Oncogene 22 (21), 3307-3318 (2003)
   PUBMED   12761501
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF210402.1, BC022357.1, BC093004.1, BP395434.1, CB852935.1,
            BF512018.1 and AC100778.5.
            
            On Jun 2, 2019 this sequence version replaced NM_001035005.3.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.107018.1,
                                           SRR1660803.243869.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2154405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318240.8/ ENSP00000323199.3
            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
            1-1                 BF210402.1         43-43
            2-3                 BC022357.1         11-12
            4-1131              BC093004.1         1-1128
            1132-1264           BP395434.1         196-328             c
            1265-1409           CB852935.1         218-362             c
            1410-1557           BF512018.1         73-220              c
            1558-1575           CB852935.1         54-71               c
            1576-1613           BF512018.1         17-54               c
            1614-5548           AC100778.5         18670-22604
FEATURES             Location/Qualifiers
     source          1..5548
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..5548
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="chromosome 18 open reading frame 32"
                     /db_xref="GeneID:497661"
                     /db_xref="HGNC:HGNC:31690"
                     /db_xref="MIM:619979"
     exon            1..192
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /inference="alignment:Splign:2.1.0"
     exon            193..380
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /inference="alignment:Splign:2.1.0"
     CDS             216..446
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="putative NFkB activating protein; putative
                     NF-kappa-B-activating protein 200"
                     /codon_start=1
                     /product="UPF0729 protein C18orf32"
                     /protein_id="NP_001030177.1"
                     /db_xref="CCDS:CCDS32831.1"
                     /db_xref="GeneID:497661"
                     /db_xref="HGNC:HGNC:31690"
                     /db_xref="MIM:619979"
                     /translation="MVCIPCIVIPVLLWIYKKFLEPYIYPLVSPFVSRIWPKKAIQES
                     NDTNKGKVNFKGADMNGLPTKGPTEICDKKKD"
     exon            381..5548
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      701..706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: ATTAAA"
     polyA_site      725
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="major polyA site"
     regulatory      1110..1115
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: ATTAAA"
     polyA_site      1133
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="major polyA site"
     regulatory      1673..1678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: AATAAA"
     polyA_site      1695
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
     regulatory      5524..5529
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
                     /note="hexamer: AATAAA"
     polyA_site      5548
                     /gene="C18orf32"
                     /gene_synonym="GPIBD25"
ORIGIN      
        1 attgtcagct gcgtttccgc ggtcgcgggt gagtgtgccc gggctagcgg cctgggttgg
       61 gctttgtagc tgctccgcag gcccagcccg ggccgcgctc gcagagtcct aggcggtgcg
      121 cggcctcctg cctcctccct cctcggcggt cgcggcccgc cggcctccgc ggtgcctgcc
      181 ttcgctctca ggttgaggag ctcaagcttg ggaaaatggt gtgcattcct tgtatcgtca
      241 ttccagttct gctctggatc tacaaaaaat tcctggagcc atatatatac cctctggttt
      301 cccccttcgt tagtcgtata tggcctaaga aagcaataca agaatccaat gatacaaaca
      361 aaggcaaagt aaactttaag ggtgcagaca tgaatggatt accaacaaaa ggaccaacag
      421 aaatctgtga taaaaagaaa gactaaagaa attttcctaa aggaccccat catttaaaaa
      481 atggacctga taatatgaag catcttcctt gtaattgtct ctgacctttt tatctgagac
      541 cggaattcag gataggagtc tagatattta cctgatacta atcaggaaat atatgatatc
      601 cgtatttaaa atgtagttag ttatatttaa tgacctcatt cctaagttcc tttttcgtta
      661 atgtagcttt catttctgtt attgctgttt gaataatatg attaaataga aggtttgtgc
      721 cagtagacat tatgttacta aatcagcact ttaaaatctt tggttctcta attcatatga
      781 atttgctgtt tgctctaatt tctttgggct cttctaattt gagtggagta caattttgtt
      841 gtgaaacagt ccagtgaaac tgtgcaggga aatgaaggta gaattttggg aggtaataat
      901 gatgtgaaac ataaagattt aataattact gtccaacaca gtggagcagc ttgtccacaa
      961 atatagtaat tactatttat tgctctaagg aagattaaaa aaagataggg aaaaggggga
     1021 aacttctttg aaaaatgaaa catctgttac attaatgtct aattataaaa ttttaatcct
     1081 tactgcattt cttctgttcc tacaaatgta ttaaacattc agtttaactg gtagttcatt
     1141 ttcttttaaa gtctattgaa atattcaaaa gggaaatttt tcaccacgtc agaaggcaga
     1201 atttggatgt tgtgatggca tctgtgtagt ggtgggacaa caattactat tgttgcgtaa
     1261 caagacactc caaaatttag tggttttcag cagcagtgac tcgactgggc agttctttgc
     1321 tgttctgggc tcactcatat ggctggctgg gcctgggtct ggacctgggc cgctatgtga
     1381 tttttatctt gggctttgaa aattcagtgt agggacctat aaatattcaa agatgatgag
     1441 atgcatcctt atatattttt tgtattcact ctgaagctgg gaaagattaa aaggaactcc
     1501 tgcccttggg tccctaatga agtctgggtc ctaactcagg ctctattaag ttctgtggct
     1561 ggtcaagtca ctgatttacc ttgggcttta tttgatataa atcatgtaaa tcagcaggtc
     1621 tcagcttttc tgtccaaagc cacctgaggg ataagataaa ttctcattag caaataaact
     1681 tttttaaggt ataaatacta ttataaaaat aacagatatt tacagtacaa caatgcaaga
     1741 ggatcctaaa tgaaaagcga atgttttttc tcaactctca ttcccttatt ccagctccac
     1801 agaggtaacc aattgttttt ttgttgttgt tgttgtatgg tttgtttttg ttagacagta
     1861 gtcttttcct gaacagtgct gctccttgtg gagcaaggct aattcatagg cagtgcatcc
     1921 agagtccgcc ccagttgatt ttgtgtgtaa ccttctagca actttttgaa aattaatttg
     1981 ttcttaaata tgcacatcat ttttatttat ttatgttttt gagacagggt ctcactctgt
     2041 cactcaagct ggagtgcagc agcatgatca cggctctcta tggcctcgac ctgcagtcct
     2101 gaagtgatcc tctcacctta gcctctcaag tagctgggac tacaggtgca caccaccatg
     2161 cccagctaat gttttttgta atttttttta tagagacagg gtttcgtcat gttgcctggg
     2221 ctgatctcga tctcctgggc tcaagcgatc ctccactttg gcttcccaaa gtgctgggat
     2281 tacaggcatg agctactact gcacctggcc cacacatcat cttttaaaaa ttaagtaata
     2341 ttgcaacgtt tctaattgtc cctacttctt tgctcctcaa aggttttacc tactgagctg
     2401 tgggcttttt aaatttatct ccatatttat aaataaatta taaaaatata aaaatataaa
     2461 cattttattt tttgagacag ggtctcactg tcacccaggt gctggagtgc agcggcatca
     2521 tcatagctca ctacagcctc caactcctgg gctcaagtga tcctcccacc tcagcctcct
     2581 gaattgctag gactacaggt gtgtgccacc acgcctggct aattttttgt agagacgggg
     2641 tcttgctctg ttgcccaagc gagtctcaaa ctcctggcct caaagtgatc ctcttgcctc
     2701 agcctcccaa agtgtcggga ttacaggcat gagccactgc ctggctatac tgttatattt
     2761 tgagccatca acttcagaca ttgtttccca taatggttga gatgccgcta tcttacactg
     2821 cctctgctcc tcccacacat cctcccaagt gcttttgtaa attttgctta catcatcagt
     2881 gttcatagca tgagtgtgcc aggtgtcttt catttgcccc tcccaagtct ctgctcccct
     2941 catcctgctt tcagcccaag gaagctgtat agacatcaac agacttccca tgtctctggg
     3001 ttctgctggg tttggccaat agcgatccat agcaggagat ggctggaggg aggagaatga
     3061 aggcagagtg tttattccct tggccctctc tctgcaaggt cacctcaggc caactgttcc
     3121 tcagccagaa gtcactgtgc ctcaaggaac actccaggca gccaactcca cctgacttct
     3181 tttatttttc ctaacctgtc cttcaccctg cccttttggg cccaggggtg gtggtatttc
     3241 tgttactggc tctgggctac tgcttcctct caagagtgct atctggcttg ctgggacact
     3301 gcctgggaga atactattgc tcactgcaca ggttaatgca ctgtgattgc gtccctttta
     3361 atatacaggt ggtgtcttcc tggagtgacc agtttacctt ctccccatac acctctcctg
     3421 cctagttgtt gcctagacct ggtgcacact gcagtcctcg ggactttctg ttgccaccct
     3481 cctgtattgg acgtcttgtt tctggatttc ctatcctctt ccttcttggt ttatccctca
     3541 ttttttctgt agcacagcag ttttctaatt caatactttt aggaggttga gtatggataa
     3601 ttttggaaag tgtccccggg atgattccaa tttatttaag cctgttttcc agagagctgc
     3661 gggtctccta aggcctttct catttctaac aagtctccct ctctagaaca ctggttccca
     3721 gtcgttgttt tcatactagc aacattttaa aagcaggata ggggtggcta gtatgcaatt
     3781 gccaactttt gatttttcca agcaggagta tatcaaaaag ctacaattta ttaccagtat
     3841 ttcgtaaaag acagtttgac accagaagag tgaaaaagaa catgggaata gtggacaaaa
     3901 atagccatca gtttgaataa gcgtatgaaa agtgttaatt ttatgaaaaa ttcactattt
     3961 tgttcatatt tttcttattt tggaggctaa ttgttaaaag cttttatcag ttatccatgg
     4021 gctggagttg gtagccactg tttgatacca cacaaatgtt tctttgccct aaaatatcaa
     4081 catctgtctg tgtaaaggtc agggctgcct ttttagtaag agctaccctt tgttaaacac
     4141 attgtacctg cactgttcat gggtgtttca cacacacaaa cctacctggt ctgcataaac
     4201 ctgaaataca gtcaagaaaa caggatccac cggaggcggt gactcaagcc tataatccca
     4261 gcactttggg aggccgaggt gggaggatca cttgaggccg ggagttcaag accagcctgg
     4321 ccaacatggt gaaaccctgt ctctactaaa aatacaaaaa ttagtcgggc atagtggtac
     4381 acacctgtaa tcccagctac tccagaggct gaggcatgag aatcgtttga aaccaggagg
     4441 cagaggttgc agtgagctga aattgtacca ctgcactcca gcctaggtga cagagcaaga
     4501 ctgtctcaaa agaaaagaaa aagaaaaaca ggatcccagc ctgggcaaca tagggagacc
     4561 tcgcctccac caaaaattaa aaaatttagc taggcatatg gtgatgtgca cctgtggtcc
     4621 cagctactct ggaggctgag gtgggaggat tgcttgaacc caggaggtta aaggctacag
     4681 tgagctgtga tcaagccact gcactctagc ttggacaaca gagcaagacc ctgtcttaaa
     4741 aaaagaaaaa aagaataatg gagtttaaat atgtaaatga caagtctaag atttcaaggt
     4801 catactttca tgctaaggag ccatcacagc tacatatata tatagtgtat atatatatat
     4861 agtgtgtata tatatatagt gtatatacat atagtgtata tatatatagt gtatatatat
     4921 agtgtgtata tatatagtgt gtgtatatat atatatgtgt atatatatat agtgtgtgta
     4981 tatatatata tttttgtttg tttgtttgtt tttggaagat ggagtttcgc tcttgttgcc
     5041 caggctgcag tgcaatggtg caatctctgc tcaccacaac ctcctcctcc caggttcaag
     5101 cgattctgcc tcagcctccc aagtagctgg gattacaggt gcgtgctacc acacccggct
     5161 aattttgtac tttagtagag acggggtttc accacgttgg tcaggctggt ctcaaactcc
     5221 caacctccag tgatctgcct gccttggcct cccaaagtgc tgggatcaca ggcataagca
     5281 ctgggcccgg ctgccacagc tactaatatc ttaattgtta gtaatacctt attgggaata
     5341 attaggcaga aatggagagg gtgagtttag attaatcagt atgtgtgaac ttgttttaaa
     5401 gtttctggag gctgaggtga gaggatcgct taagtccagg aggcggaagt tgcagtgagc
     5461 caagatcaca ccactgtact ccagccagga caacagagca ataccccgtt tcaaataaat
     5521 aataataaag ttaattttgc taaccttg
//
