LOCUS       NM_001099415            5867 bp    mRNA    linear   PRI 18-MAR-2024
DEFINITION  Homo sapiens POM121 transmembrane nucleoporin C (POM121C),
            transcript variant 1, mRNA.
ACCESSION   NM_001099415
VERSION     NM_001099415.3
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 5867)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 5867)
  AUTHORS   Lundback,V., Kulyte,A., Strawbridge,R.J., Ryden,M., Arner,P.,
            Marcus,C. and Dahlman,I.
  TITLE     FAM13A and POM121C are candidate genes for fasting insulin:
            functional follow-up analysis of a genome-wide association study
  JOURNAL   Diabetologia 61 (5), 1112-1123 (2018)
   PUBMED   29487953
  REMARK    GeneRIF: Gene expression and adipocyte functional studies support
            the notion that FAM13A and POM121C control adipocyte lipolysis and
            adipogenesis, respectively, and might thereby be involved in
            genetic control of systemic insulin sensitivity
REFERENCE   3  (bases 1 to 5867)
  AUTHORS   Hein,M.Y., Hubner,N.C., Poser,I., Cox,J., Nagaraj,N., Toyoda,Y.,
            Gak,I.A., Weisswange,I., Mansfeld,J., Buchholz,F., Hyman,A.A. and
            Mann,M.
  TITLE     A human interactome in three quantitative dimensions organized by
            stoichiometries and abundances
  JOURNAL   Cell 163 (3), 712-723 (2015)
   PUBMED   26496610
REFERENCE   4  (bases 1 to 5867)
  AUTHORS   Funakoshi,T., Maeshima,K., Yahata,K., Sugano,S., Imamoto,F. and
            Imamoto,N.
  TITLE     Two distinct human POM121 genes: requirement for the formation of
            nuclear pore complexes
  JOURNAL   FEBS Lett 581 (25), 4910-4916 (2007)
   PUBMED   17900573
REFERENCE   5  (bases 1 to 5867)
  AUTHORS   Merla,G., Ucla,C., Guipponi,M. and Reymond,A.
  TITLE     Identification of additional transcripts in the Williams-Beuren
            syndrome critical region
  JOURNAL   Hum Genet 110 (5), 429-438 (2002)
   PUBMED   12073013
REFERENCE   6  (bases 1 to 5867)
  AUTHORS   DeSilva,U., Elnitski,L., Idol,J.R., Doyle,J.L., Gan,W.,
            Thomas,J.W., Schwartz,S., Dietrich,N.L., Beckstrom-Sternberg,S.M.,
            McDowell,J.C., Blakesley,R.W., Bouffard,G.G., Thomas,P.J.,
            Touchman,J.W., Miller,W. and Green,E.D.
  TITLE     Generation and comparative analysis of approximately 3.3 Mb of
            mouse genomic sequence orthologous to the region of human
            chromosome 7q11.23 implicated in Williams syndrome
  JOURNAL   Genome Res 12 (1), 3-15 (2002)
   PUBMED   11779826
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC211429.4, HY087675.1, BC082993.1, AK293781.1, AK293305.1 and
            AI039602.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001099415.2.
            
            Transcript Variant: This variant (1) represents the protein-coding
            transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC082993.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000615331.5/ ENSP00000481575.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC211429.4         101037-101047       c
            12-102              HY087675.1         1-91
            103-1375            BC082993.1         75-1347
            1376-2270           AK293781.1         421-1315
            2271-3059           BC082993.1         2243-3031
            3060-3953           AK293305.1         592-1485
            3954-4610           BC082993.1         3920-4576
            4611-4854           AC211429.4         32547-32790         c
            4855-5404           BC082993.1         4821-5370
            5405-5867           AI039602.1         10-472              c
FEATURES             Location/Qualifiers
     source          1..5867
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..5867
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /note="POM121 transmembrane nucleoporin C"
                     /db_xref="GeneID:100101267"
                     /db_xref="HGNC:HGNC:34005"
                     /db_xref="MIM:615754"
     exon            1..436
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            437..563
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            564..742
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            743..958
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             894..3857
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /note="nuclear pore membrane protein 121-2; POM121
                     membrane glycoprotein C; pore membrane protein of 121 kDa
                     C"
                     /codon_start=1
                     /product="nuclear envelope pore membrane protein POM 121C"
                     /protein_id="NP_001092885.2"
                     /db_xref="CCDS:CCDS47617.1"
                     /db_xref="GeneID:100101267"
                     /db_xref="HGNC:HGNC:34005"
                     /db_xref="MIM:615754"
                     /translation="MVCSPVTVRIAPPDRRFSRSAIPEQIISSTLSSPSSNAPDPCAK
                     ETVLSALKEKKKKRTVEEEDQIFLDGQENKRRRHDSSGSGHSAFEPLVASGVPASFVP
                     KPGSLKRGLNSQSSDDHLNKRSRSSSMSSLTGAYTSGIPSSSRNAITSSYSSTRGISQ
                     LWKRNGPSSSPFSSPASSRSQTPERPAKKIREEELCHHSSSSTPLAADKESQGEKAAD
                     TTPRKKQNSNSQSTPGSSGQRKRKVQLLPSRRGEQLTLPPPPQLGYSITAEDLDLEKK
                     ASLQWFNQALEDKSDAASNSVTETPPTTQPSFTFTLPAAATASPPTSLLAPSTNPLLE
                     SLKKMQTPPSLPPCPESAGAATTEALSPPKTPSLLPPLGLSQSGPPGLLPSPSFDSKP
                     PTTLLGLIPAPSMVPATDTKAPPTLQAETATKPQATSAPSPAPKQSFLFGTQNTSPSS
                     PAAPAASSASPMFKPIFTAPPKSEKEGLTPPGPSVSATAPSSSSLPTTTSTTAPTFQP
                     VFSSMGPPASVPLPAPFFKQTTTPATAPTTTAPLFTGLASATSAVAPITSASPSTDSA
                     SKPAFGFGINSVSSSSVSTTTSTATAASQPFLFGAPQASAASFTPAMGSIFQFGKPPA
                     LPTTTTVTTFSQSLPTAVPTATSSSAADFSGFGSTLATSAPATSSQPTLTFSNTSTPT
                     FNIPFGSSAKSPLPSYPGANPQPAFGAAEGQPPGAAKPALTPSFGSSFTFGNSAAPAP
                     ATAPTPAPASTIKIVPAHVPTPIQPTFGGATHSAFGLKATASAFGAPASSQPAFGGST
                     AVFSFGAATSSGFGATTQTASSGSSSSVFGSTTPSPFTFGGSAAPAGSGSFGINVATP
                     GSSATTGAFSFGAGQSGSTATSTPFTGGLGQNALGTTGQSTPFAFNVGSTTESKPVFG
                     GTATPTFGQNTPAPGVGTSGSSLSFGASSAPAQGFVGVGPFGSAAPSFSIGAGSKTPG
                     ARQRLQARRQHTRKK"
     exon            959..1120
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1201
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1373
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1465
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1539
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1540..1661
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1662..1764
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1765..1941
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1942..3636
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            3637..3759
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     exon            3760..5867
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5844..5849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /note="hexamer: AATAAA"
     polyA_site      5867
                     /gene="POM121C"
                     /gene_synonym="POM121-2"
                     /note="major polyA site"
ORIGIN      
        1 actgccctcg cttcctgtgc ctcttcaggt catcgcttgc tctcgttccc aggctttggc
       61 ttctagtgga cgagaatcac cgagtctgcg gggctggatg ctgaccgccc ggaccagcac
      121 ctaggcgggc gggagctgtg cggcccaggg ttcgcgcggg ccgggtagag gctcgagctg
      181 ggacccccga gcgtgaaccc cggagccggc ggcgctgggg ccagaggggc cgggagcccc
      241 agggaggcgg atctgggccc cgagaaggac acccgcctgg atttgccccg taggcccggc
      301 ccgggcccct cgggagcaga acagccttgg tgaggtggac aggaggggac ctcgcgagca
      361 gacgcgcgcg ccagcgacag cagcccgccc cggcctctcg ggagccgtgg ggcagaggct
      421 gcggagcccc aggagggggc cagtgtcatt caaagatgtg gctgtggatt tcacccagga
      481 ggagtggcgg caactggacc ctgatgagaa gataacatac ggggatgtga tgttggagaa
      541 ctacagccat ctagtttcct tggcttatga ggtggcaaca tcttgtactt cggagattct
      601 gaagccgagc aacttgccca agtccttctt cttttcccat taacaagata tgatatcacc
      661 aagccaaacg tcatcattaa gttggagcag ggagaggagc tgtggataac gggaggtgaa
      721 tttccatgtc aacatagtcc tgggatcgtg ggactttacc agatcggttt gtaataacac
      781 ctcgaagacg ctatccgatc catcagaccc agtattcctg tccgggggta cttcccacag
      841 tgtgctggaa tggttatcac aagaaggctg tgctgtcccc tcgcaactcc aggatggtgt
      901 gtagcccagt gactgtgagg atcgcccctc ctgacagaag attttcacgt tctgcgatac
      961 cagagcagat aatcagctca acactgtcgt caccatcaag taatgcccca gacccatgtg
     1021 caaaggagac tgtactgagt gccctcaaag agaagaagaa gaaaaggaca gtggaggaag
     1081 aagaccaaat attccttgat ggccaggaaa ataaaagaag gcgccatgat agcagtggca
     1141 gtggacattc agcatttgag cccctggtgg ccagtggagt ccccgcttct tttgtgccta
     1201 agcctgggtc tctgaagaga ggcctcaatt ctcagagctc agatgaccac ttgaataaga
     1261 gatcccgaag ctcttccatg agctccttga caggcgctta cacaagtggc atccctagct
     1321 ccagccgcaa tgccattacc agttcctaca gctccactcg aggcatctca cagctgtgga
     1381 agagaaatgg ccccagttca tcacccttct ctagcccagc ctcatcccgc tcccagacac
     1441 cggagaggcc agcaaagaaa ataagagaag aagagctgtg tcatcattcc agttcttcaa
     1501 ctccattggc agcagacaag gagtcccagg gagaaaaggc tgcagataca accccaagga
     1561 agaaacaaaa ctcgaattct cagtctacac ctggcagctc tgggcagcgt aagcggaaag
     1621 ttcagctgct gccttctcgg cgaggggaac agctgacctt gcctccacct ccccagcttg
     1681 gctattcgat cactgccgag gacctagact tagagaagaa ggcttcatta cagtggttca
     1741 accaggcctt ggaggacaag agtgatgctg cctcgaactc tgtcactgag accccaccta
     1801 ccactcagcc ttcatttacc tttaccctgc ctgctgctgc aactgcctcc ccacccacct
     1861 ccctcctggc cccaagcacc aacccactgt tagagagctt gaagaagatg cagactcccc
     1921 cgagcctgcc accctgccca gaatctgctg gagcagcaac cactgaggcc ctctcacctc
     1981 caaagacacc cagcctccta cccccgctgg gtttatcaca gtcagggccg ccagggctgc
     2041 tccccagccc ctcctttgac tccaaacccc cgaccacttt gctggggctg atccctgctc
     2101 catccatggt accagccact gacaccaagg cacctccaac ccttcaggca gagacggcta
     2161 ccaaacccca agccacatct gccccgtccc ccgcccccaa gcaaagcttc ctgtttggaa
     2221 cacagaacac ctcaccttcc agccctgccg cccctgctgc atcttcagca tctcccatgt
     2281 tcaagcccat tttcacggct ccacccaaga gtgagaagga aggcctcaca ccgcctggcc
     2341 cttcagtctc agccacagcg ccctccagct cctccctccc cacgaccacc agcaccacag
     2401 ccccgacctt ccagcctgtc tttagcagca tggggccacc tgcatctgtg cccttgcctg
     2461 ctcccttctt caagcagaca actactcccg ccactgctcc caccacaact gccccgctct
     2521 tcactggcct ggccagcgcc acctctgctg tggctcccat cacctctgcc agtccatcca
     2581 cagactctgc ttcgaagcct gcgtttggct ttggcataaa cagtgtgagc agcagcagtg
     2641 tgagtaccac gaccagcacc gccactgccg cctcacagcc tttcctcttc ggggcgcccc
     2701 aggcctctgc tgccagcttc accccggcca tgggctccat attccagttt ggcaaacctc
     2761 ctgccttgcc cacaaccacc acagtcacca ccttcagcca gtccctgccc actgccgtgc
     2821 caacggccac cagcagcagc gctgccgact ttagtggttt tggcagcacc ctcgccacct
     2881 ccgccccggc caccagcagc cagcccactc tgacgttcag taacacgagc acccccacgt
     2941 tcaacattcc ctttggctca agcgccaagt ccccgctccc atcatatccg ggagccaacc
     3001 cccagcccgc atttggggcc gctgaggggc agccaccggg ggccgccaag ccagccctta
     3061 cccccagctt tggcagctct ttcacttttg gaaactctgc agccccggcc ccggctactg
     3121 cacccacacc tgcacctgcg tccacgatca agatcgtgcc tgcgcacgtg cctacgccca
     3181 tccagcctac ctttggcggt gccacgcact cggcgtttgg attgaaagcc acggcttccg
     3241 ccttcggcgc tcccgccagc tcacagcccg cctttggcgg ctccactgct gtcttctcct
     3301 tcggtgcagc caccagctcc ggctttggag ccaccaccca gaccgccagc agcgggagca
     3361 gcagctcggt gtttggcagc acaacaccat cacccttcac gtttgggggt tcggcagccc
     3421 ccgctggcag tgggagcttt gggatcaacg tggccacccc aggctccagc gccaccaccg
     3481 gagctttcag ctttggagca ggacagagtg ggagcacagc cacctccacc cccttcacag
     3541 ggggcttagg tcagaacgcc ctgggcacca ccggccagag cacaccgttt gccttcaacg
     3601 tgggcagcac aactgagagc aaacctgtgt ttggaggcac cgccaccccc acctttggtc
     3661 agaacacccc tgcgcctgga gtgggcacat cgggcagcag cctctccttt ggggcatctt
     3721 cagcacccgc ccaaggcttt gttggtgttg gaccgttcgg atcggcggcc ccttcatttt
     3781 ccattggtgc gggatccaag accccagggg ctcgacagcg actgcaggcc cgaaggcagc
     3841 acacccgcaa aaagtagcct ttgtcccctg tccctgttcc ccccacccct tccctaaatc
     3901 tggaccttgg cacgtgctag aaagagcctt ggacccttcc agctgcgtaa agcaaaccta
     3961 ccccggatct ctggcttcag ccgccagggg gcagtggcag ccctggggcc ctttcccttc
     4021 tggaggaagc acaagcctca gggaagggga agcaggatgc ggagggccaa agcccgggac
     4081 ctctacttga acagttccac tggggaggct ggagaactaa ggacctgtac atagtgtccg
     4141 ctgccctgac tcccgcttag cgcaccctta ggcaggcgcc ccttccacct ttccccgaga
     4201 gccgtcgtcg ctggaggggg cagggtccag cccgcctgga tcggtggtgt gcacctgatg
     4261 ggatttggga aatgggttat ccctaaagct ttatcttgct tggcttagct gtgagaagtg
     4321 gttctcttcc tctggtccct tctggggact ctgtttcccc atttcttgct gctgtgtccc
     4381 tcaccggttc cttgcaggat tccctccttt ttaaatgccc ttgaatctag ctttgccttg
     4441 gagaccccag tgggtgctgc tcctgccgtt ttcttcctgc caagcctgaa tcaatgtttc
     4501 atctccaacc ctctgccagt ttggcccctc agagcttggt ggctcaagac tgttagcctg
     4561 gcagagccag gggtgaaggg agaagctctt ggagcaggca ggatgcccac tgctgcttca
     4621 gctgcctcct cgcccagcta ccctttggcc ccattgggcc ctcgtctgcc tctccaggat
     4681 tgtatgtttc aagccttgtc ctgtgttcct ttgtctgacg ctctgtgtat tgctctttga
     4741 atcgagtttg gaggaagagt tgagttgtat gagtggcggc atgttggtag tgccggactt
     4801 cctgtttcaa gttttctggg gcctcgctaa ttgaatgtgg aaagtagcac cacttgacgg
     4861 ctacaagtgc cgactcctga attttcccat ggtgttctga cttcaagggc tggcagccag
     4921 ggagaatggg cccaggggaa gcaaagacct cttccctctg cggtttctgt cccacttaac
     4981 tgacctcact ggaggctacg tcacccaaag tagatgttag aaaacctaaa ttaatgaacc
     5041 atatttttaa aatcctattt ttcccaaaca gggccctctg cagcccatcc tttccttccg
     5101 tccttctgaa accacatacc ccaggcccaa gcgccttgct gtcacgccca acctctttgg
     5161 gagaagtatg aatgcgtgtg tctaaattaa aagaaaaaaa tatttaaacg ttttttaaca
     5221 aaaatttatt tttgtattta agctaaattg ccttttaaat tccttcaagc ttggttcatt
     5281 gaggtggtta agtataaatg ctattaacta ggaattagct gtatagttaa gttatgcctg
     5341 tgcaaagaag aggctcaaat gctgtccccg gcagctttcc tgggggacta gagctccttc
     5401 tggccatgtt atatgaaatg taattcttat tttataaata atgtgatgta gatgtaaccg
     5461 gtgccccctc cccgttgtga ctgagggcga gtgttatacc tggctgcgtg tgcagctgag
     5521 gagggagtga acctcaagcc taaatacctg ttaggattgg agggtctggg tgggcctggg
     5581 cctagcaatc aagcttctac ctgtacctta tgtaaggtag accctcctag tgtcagtacc
     5641 tgagcttgtt tacctcagtt ccgcaggcag gacagccggt ccgggaaccc tgagtgagag
     5701 tgagtgtgga tgtgtacagt acacacactg gacggcagcg ggaggctggg actttccatt
     5761 acaaatagag acttcattcc tgttgagtct agttggaatt tttagtatga atgtgagatt
     5821 tttctcctgc ttgtgacatt aagaataaaa aactgtgatc tatcgta
//
