LOCUS       NM_001100420            5396 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens chromosome 21 open reading frame 91 (C21orf91),
            transcript variant 1, mRNA.
ACCESSION   NM_001100420
VERSION     NM_001100420.2
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 5396)
  AUTHORS   Polubothu,S., Zecchin,D., Al-Olabi,L., Lionarons,D.A., Harland,M.,
            Horswell,S., Thomas,A.C., Hunt,L., Wlodarchak,N., Aguilera,P.,
            Brand,S., Bryant,D., Carrera,C., Chen,H., Elgar,G., Harwood,C.A.,
            Howell,M., Larue,L., Loughlin,S., MacDonald,J., Malvehy,J.,
            Barberan,S.M., da Silva,V.M., Molina,M., Morrogh,D., Moulding,D.,
            Nsengimana,J., Pittman,A., Puig-Butille,J.A., Parmar,K.,
            Sebire,N.J., Scherer,S., Stadnik,P., Stanier,P., Tell,G.,
            Waelchli,R., Zarrei,M., Puig,S., Bataille,V., Xing,Y., Healy,E.,
            Moore,G.E., Di,W.L., Newton-Bishop,J., Downward,J. and Kinsler,V.A.
  TITLE     Inherited duplications of PPP2R3B predispose to nevi and melanoma
            via a C21orf91-driven proliferative phenotype
  JOURNAL   Genet Med 23 (9), 1636-1647 (2021)
   PUBMED   34145395
REFERENCE   2  (bases 1 to 5396)
  AUTHORS   Reiche,L., Gottle,P., Lane,L., Duek,P., Park,M., Azim,K.,
            Schutte,J., Manousi,A., Schira-Heinen,J. and Kury,P.
  TITLE     C21orf91 Regulates Oligodendroglial Precursor Cell Fate-A Switch in
            the Glial Lineage?
  JOURNAL   Front Cell Neurosci 15, 653075 (2021)
   PUBMED   33796011
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5396)
  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   4  (bases 1 to 5396)
  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   5  (bases 1 to 5396)
  AUTHORS   Li,S.S., Qu,Z., Haas,M., Ngo,L., Heo,Y.J., Kang,H.J., Britto,J.M.,
            Cullen,H.D., Vanyai,H.K., Tan,S.S., Chan-Ling,T., Gunnersen,J.M.
            and Heng,J.I.
  TITLE     The HSA21 gene EURL/C21ORF91 controls neurogenesis within the
            cerebral cortex and is implicated in the pathogenesis of Down
            Syndrome
  JOURNAL   Sci Rep 6, 29514 (2016)
   PUBMED   27404227
  REMARK    GeneRIF: EURL is an important new player in neuronal development
            that is likely to impact on the neuropathogenesis of HSA21-related
            disorders including Down Syndrome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5396)
  AUTHORS   Kriesel,J.D., Jones,B.B., Matsunami,N., Patel,M.K., St Pierre,C.A.,
            Kurt-Jones,E.A., Finberg,R.W., Leppert,M. and Hobbs,M.R.
  TITLE     C21orf91 genotypes correlate with herpes simplex labialis (cold
            sore) frequency: description of a cold sore susceptibility gene
  JOURNAL   J Infect Dis 204 (11), 1654-1662 (2011)
   PUBMED   22039568
  REMARK    GeneRIF: Two complementary techniques identified C21orf91 as a gene
            of interest for susceptibility to herpes simplex labialis.
REFERENCE   7  (bases 1 to 5396)
  AUTHORS   Godbout,R., Andison,R., Katyal,S. and Bisgrove,D.A.
  TITLE     Isolation of a novel cDNA enriched in the undifferentiated chick
            retina and lens
  JOURNAL   Dev Dyn 227 (3), 409-415 (2003)
   PUBMED   12815627
  REMARK    GeneRIF: Authors demonstrate that human AL109761 is in fact the
            human ortholog of chicken EURL (GeneID: 395489)
REFERENCE   8  (bases 1 to 5396)
  AUTHORS   Dominguez,O., Ashhab,Y., Sabater,L., Belloso,E., Caro,P. and
            Pujol-Borrell,R.
  TITLE     Cloning of ARE-containing genes by AU-motif-directed display
  JOURNAL   Genomics 54 (2), 278-286 (1998)
   PUBMED   9828130
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BF739854.1, DA215855.1, DB066982.1, AK023825.1, AL109761.3 and
            CR749496.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001100420.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.383068.1,
                                           SRR1803611.92758.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284881.9/ ENSP00000284881.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                BF739854.1         31-45
            16-552              DA215855.1         19-555
            553-808             DB066982.1         298-553
            809-1406            AK023825.1         804-1401
            1407-5210           AL109761.3         29546-33349
            5211-5396           CR749496.1         4517-4702
FEATURES             Location/Qualifiers
     source          1..5396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.1"
     gene            1..5396
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /note="chromosome 21 open reading frame 91"
                     /db_xref="GeneID:54149"
                     /db_xref="HGNC:HGNC:16459"
     exon            1..54
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /inference="alignment:Splign:2.1.0"
     exon            55..188
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..955
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein EURL homolog; early undifferentiated retina and
                     lens; cold sore susceptibility gene 1"
                     /codon_start=1
                     /product="protein EURL homolog isoform 1"
                     /protein_id="NP_001093890.1"
                     /db_xref="CCDS:CCDS42907.1"
                     /db_xref="GeneID:54149"
                     /db_xref="HGNC:HGNC:16459"
                     /translation="MNEEEQFVNIDLNDDNICSVCKLGTDKETLSFCHICFELNIEGV
                     PKSDLLHTKSLRGHKDCFEKYHLIANQGCPRSKLSKSTYEEVKTILSKKINWIVQYAQ
                     NKDLDSDSECSKNPQHHLFNFRHKPEEKLLPQFDSQVPKYSAKWIDGSAGGISNCTQR
                     ILEQRENTDFGLSMLQDSGATLCRNSVLWPHSHNQAQKKEETISSPEANVQTQHPHYS
                     REELNSMTLGEVEQLNAKLLQQIQEVFEELTHQVQEKDSLASQLHVRHVAIEQLLKNC
                     SKLPCLQVGRTGMKSHLPINN"
     exon            189..725
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /inference="alignment:Splign:2.1.0"
     exon            726..788
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /inference="alignment:Splign:2.1.0"
     exon            789..5396
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1100..1105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /note="hexamer: AATAAA"
     polyA_site      1123
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
     regulatory      5376..5381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /note="hexamer: AATAAA"
     polyA_site      5396
                     /gene="C21orf91"
                     /gene_synonym="BTG3-7:1; C21orf14; C21orf38; CSSG1; EURL;
                     YG81"
                     /note="major polyA site"
ORIGIN      
        1 agtggaggaa cccgagccgc acggaacggc ggtggtggcc cgcggagccg gacggggcac
       61 tatgaacgaa gaggagcagt ttgtaaacat tgatttgaat gatgacaaca tttgcagtgt
      121 ttgtaaactg ggaacagaca aagaaacact ctccttctgc cacatttgtt ttgagctaaa
      181 tattgagggg gtaccaaagt ctgatctctt gcacaccaaa tcattaaggg gccataaaga
      241 ctgctttgaa aaataccatt taattgcaaa ccagggttgt cctcgatcta agctttcaaa
      301 aagtacttat gaagaagtta aaaccatttt gagtaagaag ataaactgga ttgtgcagta
      361 tgcacaaaat aaggatctgg attcagattc tgaatgttct aaaaaccccc agcatcatct
      421 gtttaatttc aggcataagc cagaagaaaa attactccca cagtttgact cccaagtacc
      481 aaaatattct gcaaaatgga tagatggaag tgcaggtggc atctctaact gtacacaaag
      541 aattttggag cagagggaaa atacagactt tggactttct atgttacaag attcaggtgc
      601 cactttatgt cgtaacagtg tattgtggcc tcatagtcac aaccaggcac agaaaaaaga
      661 agagacaatc tctagtccag aggctaatgt ccagacccag catccacatt acagcagaga
      721 ggaattgaat tcgatgactc ttggtgaggt agagcaactg aatgcaaagc tcctacagca
      781 aatccaggaa gtttttgaag agttaactca ccaagtgcaa gaaaaagatt ctttggcctc
      841 acagctccat gtccgccacg ttgccatcga acagcttctg aagaactgtt ctaagttacc
      901 atgtctgcaa gtagggcgaa caggaatgaa gtcgcaccta cccataaaca actgacctaa
      961 acagacttac ttcgtatgcc ctgcccttta ttggtctccc agacatgcaa actttgaaga
     1021 agtttgaaga aagttgtggt ccgttttttt atggtcatta aatttgccaa acataaggca
     1081 gtatttaaca tctttgtcaa ataaagcaga tcattatact ctagtcttct agggctaatc
     1141 attttggctc atttggggac tcttttttcc cagaattact aaacaaattt tatcacatgt
     1201 gactacttaa atatactgtt acagtgtcat tttattaaac attttaattc acctgtcaaa
     1261 acaacagatt aactccttag tgtaaactac tagagataat ttttaagagg gaaatggaat
     1321 tcatatcacc tcttatttat tatgagcaat attttaatat aaaaatttta tatgtgaaaa
     1381 tgctatttta ggtactttgc cattctcttt ataaatgtgt atttgagtgg ttctgtatat
     1441 ttatttacat tatcatgtgt gaatatgttc acccatattt caggtcactg cattttattc
     1501 tcttaataca atgttttcac aacggttacc ttgctttcca aagataaata tattttggat
     1561 tagaaatctg agttgtttta atttctaata cctcttgtaa aagaagaatt aataactttt
     1621 taaagcagta ttcaggtaaa tacaatacat tattttgttt tctaacaaaa gcagttctta
     1681 gttcaggaag aaaagactaa tctggcttct atgtcaattt gtctccatag aaatgaaagc
     1741 ctcctcttgc ttctttcatt attagcttca caccagtgac tgtgatgcat tagaatttgg
     1801 acagagtaag tcaagcctca cttccaattc aaatataatg tctatcttca aattgagtgt
     1861 gctgtgaaat tgttctgtct ttgaaaaaaa aaagtaagat tattttgtgt gccactttgg
     1921 gtaaagtttc aagaatactt aaactgtcca aattgtatta tcaccatcat tgaacttagt
     1981 gctcaaagaa agcattgtga ggtatttttc taaactttag actctataga gaaatatagg
     2041 attgttctac agaagaaaag caaaactcct aattaaaaaa aaataaacct atgtattaag
     2101 agaatgttct cgtaagttgc ctatgatgct tccaaagagt ttttatctaa cagattgtgc
     2161 caaacagcta gataaatttt aataatgtat tacagtaaag gctataacca atgcagaatt
     2221 aaaatgggct ctaaattctg tttttaactc atgtttagaa tgtacttatg aggtagatcc
     2281 ttgcttgaaa gtatctgctg aaaagcccag taacgtggca gcttcatgca taaagatata
     2341 aatgacattt gccttaaatt tggcagccta ccctggcttg ggtcagattt tgttgttgaa
     2401 cacaagaaag tatttaagca aagaaacact tcagtttaat tgaaaacaac tttttgtaat
     2461 gctgacgtgt taaattggcc tgagggtatt aattgatatc tgttgatttt gtttttcttt
     2521 gaagtataac attacttttt ggagggaatt tttgaaagat gctttcgatt tctctcaatt
     2581 ctttaagtca tgcaaaatga atttaaaatc cagggagtat ggatgcattg ccttagtttt
     2641 gatgagcttt aaattaaatg tgtgcaatat caaaatattc aaacttacaa gctgggtaaa
     2701 tacatttcct gattaatatc ttagtgctta attgttccca cattttcaaa tttgacttta
     2761 ctcttttttg gcgtaattca gtaagattgt taccagccag tgtgtttgca cacatttggg
     2821 tttgtgttta gatgagttag ggacagtcat aaaagttggg gatatgttgc atttgatatc
     2881 aatagtagca tatttccaga atatgagcca taagttgcag tcctgaatac aacagtgtta
     2941 tccaaagaaa ggagttttct gacaaatata catagctttg ctaatgagta cggaacaagt
     3001 ggatgaacgt gtgcatgtgc taaggtctta agtgggactc tgatttattc catttagata
     3061 tttctactta agctctaaaa aggagaggtg ctcttaaaaa aaactttgtg gtgctggtac
     3121 tcacactact ttatttggat gagttcctag taaaaaaaac tttttgttga agtattttgc
     3181 acagcagttt atccaaatgt ttggtaaact tataatttag tcctatgtta gttttcttaa
     3241 tcaaatatgc aattactgtg tatgcaaata taagtatcag gtacagagtt gagttctaac
     3301 aagagaacat gaaatatcac aaatattgtt ttccacactt ggctattctc tacagttgtt
     3361 agtaattttt gagaatgttt tgaagcatat ctcatgtact actgtttaaa aagtggcaaa
     3421 acagactgcc agtcatccat tactaaattt tcagagctta tatgattaag gggagtgaga
     3481 taagacaaat ctttttcacg ttcagtttta taatttgaca cgttaaattg agttttaaaa
     3541 attagaaaag tgtttttgac cacacaggtt gttctcttta aagttcagcc ttataatgaa
     3601 gctaaaaatc aattatgttt tactttgaga ttatcatctt atcctttgat cctcatatta
     3661 atatctaaat tagtcttttt taaaaggcat gcacttgaga ctccagtaat agatgattca
     3721 ggcagcagaa tagtgttttg ttgtgtcgtt gactatgcac aatggtggag caaagacaca
     3781 ttcttagttt ttcaaaacac atgttcattt taccacaaag tgcccatttt tatatacatt
     3841 taaggattat tttttcaatg tcaagttcat gttagtgatt tcagaaatat agtcaaaata
     3901 tatagtcaaa tatatcttga caggcatctt gagatttggt ttttcatttt actatattta
     3961 tgactgaaaa tggttttgtg ttttctttat gttgtttata tattttttac cttagtgttt
     4021 acactggtaa ggcttgttag tccatttttg tagttttttt aaagtaagct tttagatcta
     4081 tttgtgtttt aatgtttccc agtttgggtt ttgttttgtt ttggaagaat ctgctttcat
     4141 tattaaatta taaaatgtaa atgctctaaa gtaggaattt ttaaagagta aattatttgt
     4201 gtagcttatt aggaggttca ggttagtgac cataaagtgg gttacttgta catgaaaatt
     4261 tgaaatggta ccatgtaaaa ttcttctatt gtcaactttt tctgatgtat gccagttcat
     4321 ttactgacaa atgttgttac taagtgctta ttaagaagtg taatacgcta taaaaaagtt
     4381 aatacttttt gttcagatgt aaggcaaaga taattgatgc cgtttcagtg tatgattgta
     4441 tttttaactt ttacgttggt gggagtaact atttgaggaa atttgtggtg agaattagta
     4501 agagataaaa cccccaacag tttattctta ccaagtaaag ttttgtggtc atggggcagg
     4561 gaagagttta tttaccagaa tactagagcc ctcacacaaa ataaaggtaa cttggaggag
     4621 ggctataatg cttgcatctc agtattttca tttcacttca tcctttcata attgccttga
     4681 ttatggtgca gtctaaccta ttaagcaact tctggctatg gtaacattga tatgaaccat
     4741 attatatcaa gtctccaaaa catctagttt gttaacatac actttccctg ttctttttag
     4801 tttgagtcca cattactaat acattttaat aatatttaat tatttcacaa ttttaagttt
     4861 accaaagtaa acaaaaattc atgaagatga gtattgccct ctcccaaaaa aggtttaaag
     4921 attagttgaa cttccctcaa ctacacctaa agcaaagggg aattttagta agtgtgtgta
     4981 ccttgtttct ttcagacgca tctagaatgt ttttctttca ccgtacctcc aaaagaggca
     5041 atttagaaag tattaagtag tgacttttgt tcagttccat tttgtgtgtg tgtgtgtgtg
     5101 tgtgtgtgtg tgtgtgaacc ttgctttaaa acagtagcgt atactatggt cattgaactt
     5161 aatctctctg gtgttagaaa tttactttac aaaattgtgt taagactttt ggaaaaagaa
     5221 aatgaaactg ctgtggtaaa aaccaagttt gtttcaaaaa agtaggcaat tatttggctg
     5281 ttatattttc tttgaaaact gcaataattt atatatttgt attgctctgc ttgggaactg
     5341 tatatatgct tgtctactat ttttaatttt acaacaataa aataagtatt ttgtta
//
