LOCUS       NM_025229               2385 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase
            (SEL1L2), transcript variant 5, mRNA.
ACCESSION   NM_025229 XM_006723647 XM_046437 XM_941409
VERSION     NM_025229.2
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 2385)
  AUTHORS   Andersen,J.S., Vijayakumaran,A., Godbehere,C., Lorentzen,E.,
            Mennella,V. and Schou,K.B.
  TITLE     Uncovering structural themes across cilia microtubule inner
            proteins with implications for human cilia function
  JOURNAL   Nat Commun 15 (1), 2687 (2024)
   PUBMED   38538594
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2385)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   3  (bases 1 to 2385)
  AUTHORS   Bhatnagar,S., Soni,M.S., Wrighton,L.S., Hebert,A.S., Zhou,A.S.,
            Paul,P.K., Gregg,T., Rabaglia,M.E., Keller,M.P., Coon,J.J. and
            Attie,A.D.
  TITLE     Phosphorylation and degradation of tomosyn-2 de-represses insulin
            secretion
  JOURNAL   J Biol Chem 289 (36), 25276-25286 (2014)
   PUBMED   25002582
REFERENCE   4  (bases 1 to 2385)
  AUTHORS   Cattaneo,M., Canton,C., Albertini,A. and Biunno,I.
  TITLE     Identification of a region within SEL1L protein required for tumour
            growth inhibition
  JOURNAL   Gene 326, 149-156 (2004)
   PUBMED   14729273
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC398207.1, BC035741.1 and AL109657.8.
            
            On Jun 2, 2019 this sequence version replaced NM_025229.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284951.10/ ENSP00000284951.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-564               DC398207.1         3-566
            565-1411            BC035741.1         683-1529
            1412-1484           AL109657.8         75353-75425         c
            1485-2229           BC035741.1         1603-2347
            2230-2385           AL109657.8         57898-58053         c
FEATURES             Location/Qualifiers
     source          1..2385
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     gene            1..2385
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /note="SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase"
                     /db_xref="GeneID:80343"
                     /db_xref="HGNC:HGNC:15897"
                     /db_xref="MIM:614289"
     exon            1..138
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..2147
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 5; protein sel-1 homolog 2; suppressor of
                     lin-12-like protein 2; sel-1 suppressor of lin-12-like 2;
                     SEL1L2, ERAD E3 ligase adaptor subunit; SEL1L2 adaptor
                     subunit of ERAD E3 ligase; SEL1L2 adaptor subunit of ERAD
                     E3 ubiquitin ligase"
                     /codon_start=1
                     /product="protein sel-1 homolog 2 isoform 3 precursor"
                     /protein_id="NP_079505.1"
                     /db_xref="GeneID:80343"
                     /db_xref="HGNC:HGNC:15897"
                     /db_xref="MIM:614289"
                     /translation="MKPLSLLIEILIILGVTIKTIKAEEHNKRQKERNVTTQVSVNEI
                     KQYLSHILEQRTSSNVINKRENLLEKKKNQRKIRIKGIQNKDILKRNKNHLQKQAEKN
                     FTDEGDQLFKMGIKVLQQSKSQKQKEEAYLLFAKAADMGNLKAMEKMADALLFGNFGV
                     QNITAAIQLYESLAKEGSCKAQNALGFLSSYGIGMEYDQAKALIYYTFGSAGGNMMSQ
                     MILGYRYLSGINVLQNCEVALSYYKKVADYIADTFEKSEGVPVEKVRLTERPENLSSN
                     SEILDWDIYQYYKFLAERGDVQIQVSLGQLHLIGRKGLDQDYYKALHYFLKAAKAGSA
                     NAMAFIGKMYLEGNAAVPQNNATAFKYFSMAASKGNAIGLHGLGLLYFHGKGVPLNYA
                     EALKYFQKAAEKGWPDAQFQLGFMYYSGSGIWKDYKLAFKYFYLASQSGQPLAIYYLA
                     KMYATGTGVVRSCRTAVELYKGVCELGHWAEKFLTAYFAYKDGDIDSSLVQYALLAEM
                     GYEVAQSNSAFILESKKANILEKEKMYPMALLLWNRAAIQGNAFARVKIGDYHYYGYG
                     TKKDYQTAATHYSIAANKYHNAQAMFNLAYMYEHGLGITKDIHLARRLYDMAAQTSPD
                     AHIPVLFAVMKLETTHLLRDILFFNFTTRWNWLKLDNTIGPHWDLFVIGLIVPGLILL
                     LRNHHG"
     exon            139..194
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            195..363
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            364..466
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            467..629
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            630..683
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            684..743
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            744..825
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            826..980
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1037
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1106
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1184
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1247
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1248..1335
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1484
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1650
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1725
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1898
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1899..2027
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2385
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2208..2213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /note="hexamer: AATAAA"
     polyA_site      2229
                     /gene="SEL1L2"
                     /gene_synonym="C20orf50; sel-1L2"
                     /note="major polyA site"
ORIGIN      
        1 agtccctgag aagaggagct cttgggccaa tcacctagtt tctgcctgtg ttacagtgaa
       61 gagaagctgc ttaagagaag atgaagccct tgtctctgtt aatagagata ttgataattc
      121 ttggggtcac aattaaaact atcaaagcag aggaacataa taaaagacaa aaggaaagaa
      181 atgtcaccac acaggtatca gtgaacgaaa tcaaacaata tttatcacac atattggaac
      241 aaagaacatc tagtaatgta atcaataaaa gagaaaatct cctggagaaa aagaagaatc
      301 aacgtaaaat aagaataaaa ggaattcaaa ataaagatat cttgaagaga aataagaatc
      361 atttacaaaa gcaagcagag aaaaatttta cagatgaagg agaccagcta tttaagatgg
      421 gcatcaaggt tctccagcag tctaaaagcc aaaaacaaaa agaagaagcc tacctacttt
      481 ttgccaaagc agctgacatg ggaaacttga aagctatgga gaaaatggct gacgctttgc
      541 tatttggaaa ttttggcgtg caaaatataa cagcagctat ccaattatat gagtccttgg
      601 ctaaagaagg atcatgtaaa gcccaaaacg cattaggatt tttgtcttct tatggaatag
      661 gaatggaata tgatcaagct aaggcactga tatattacac ctttggaagt gctggaggaa
      721 acatgatgtc ccagatgatt ttggggtaca gatatttgtc gggaatcaat gttctacaga
      781 attgtgaagt tgccctaagt tattacaaga aagtggcaga ttatattgct gacacatttg
      841 aaaaaagtga aggtgttcca gtggaaaaag tgagactaac ggaaagacct gaaaatctga
      901 gttctaacag tgagattttg gattgggaca tataccaata ctataaattt ttggcagaaa
      961 gaggagatgt tcagatacaa gtctctcttg gacaattaca tctaattggc aggaaaggtc
     1021 tagatcagga ttactacaaa gcattacact acttcttaaa ggcagcaaag gccgggagtg
     1081 caaatgccat ggcatttata ggaaagatgt atttagaggg gaatgctgcc gtgccgcaaa
     1141 ataacgctac tgccttcaag tacttttcca tggcagccag taagggcaat gcaatcggcc
     1201 ttcatgggct tggtcttctt tactttcatg gaaaaggagt tcccctgaat tatgccgaag
     1261 cacttaaata ctttcagaaa gctgcggaaa aagggtggcc cgacgcacag ttccagttag
     1321 gcttcatgta ctactctggc tctggaatat ggaaggatta taaacttgcc ttcaaatatt
     1381 tttacctggc atctcagagt gggcagcccc ttgccattta ttatctggcc aagatgtatg
     1441 caacaggaac aggagtagta agatcatgca gaactgctgt ggagctttat aaaggtgtct
     1501 gtgaactagg ccactgggct gagaaattcc tgacagctta ctttgcctat aaggatggtg
     1561 atatagattc ttctcttgtt cagtatgcac tgcttgcaga aatggggtat gaagtagctc
     1621 aaagcaattc agcattcatt ttggaatcta aaaaggctaa cattcttgaa aaagagaaga
     1681 tgtatccaat ggcgcttctc ctatggaatc gagctgccat tcaaggcaat gcatttgcta
     1741 gagtaaaaat tggagattac cattactatg gctatgggac taagaaagac tatcaaacag
     1801 cagccacaca ctacagcatt gcagccaaca aataccacaa cgcgcaagcc atgttcaatc
     1861 tggcttatat gtatgaacac ggcttaggca tcacaaagga cattcacttg gccagaagat
     1921 tgtacgacat ggctgctcaa acgagtccag atgcccacat acctgtgctc tttgccgtca
     1981 tgaaactgga aactacgcat ttgctccggg atatcctgtt ttttaatttc acaacgagat
     2041 ggaactggct gaaactggac aacaccattg gaccacactg ggacttattt gtgattggcc
     2101 tcattgttcc tgggctgatt ttgttgctta gaaatcacca tgggtaggat gcggatcaca
     2161 ggaaaacctg ctcacgggaa tcagttcact ccaaggtatc cccactaaat aaacagtttc
     2221 ccatccaaat caagagtccg ctgcagtttc ccgctcaggg ctgtgatggg aaacagacaa
     2281 gacttgggga ccatcctaga gaaacaactt cagacttcct gcttagtaga gaaaaccctt
     2341 tgcgggatgc tgggaactgg tcacctaaga ccttgttacc aatct
//
