LOCUS       NM_005584               2901 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mab-21 like 1 (MAB21L1), mRNA.
ACCESSION   NM_005584
VERSION     NM_005584.5
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 2901)
  AUTHORS   Meng,F., Li,X., Zhang,J., Gao,Z., Yang,X., Liu,Z., Liu,Y., Guo,T.,
            Wang,L., Yang,L. and Wang,Z.
  TITLE     Single amino acid variation in MAB21L1 is dominantly associated
            with congenital eye defects
  JOURNAL   J Med Genet 60 (7), 655-661 (2023)
   PUBMED   36446583
  REMARK    GeneRIF: Single amino acid variation in MAB21L1 is dominantly
            associated with congenital eye defects.
REFERENCE   2  (bases 1 to 2901)
  AUTHORS   Wang,P., Wu,P., Wang,J., Zeng,Y., Jiang,Y., Wang,Y., Li,S., Xiao,X.
            and Zhang,Q.
  TITLE     Missense Mutations in MAB21L1: Causation of Novel Autosomal
            Dominant Ocular BAMD Syndrome
  JOURNAL   Invest Ophthalmol Vis Sci 64 (3), 19 (2023)
   PUBMED   36892533
  REMARK    GeneRIF: Missense Mutations in MAB21L1: Causation of Novel
            Autosomal Dominant Ocular BAMD Syndrome.
            Review article
REFERENCE   3  (bases 1 to 2901)
  AUTHORS   Hall,H.N., Bengani,H., Hufnagel,R.B., Damante,G., Ansari,M.,
            Marsh,J.A., Grimes,G.R., Kriegsheim,A.V., Moore,D., McKie,L.,
            Rahmat,J., Mio,C., Blyth,M., Keng,W.T., Islam,L., McEntargart,M.,
            Mannens,M.M., Heyningen,V.V., Rainger,J., Brooks,B.P. and
            FitzPatrick,D.R.
  TITLE     Monoallelic variants resulting in substitutions of MAB21L1 Arg51
            Cause Aniridia and microphthalmia
  JOURNAL   PLoS One 17 (11), e0268149 (2022)
   PUBMED   36413568
  REMARK    GeneRIF: Monoallelic variants resulting in substitutions of MAB21L1
            Arg51 Cause Aniridia and microphthalmia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2901)
  AUTHORS   Seese,S.E., Reis,L.M., Deml,B., Griffith,C., Reich,A.,
            Jamieson,R.V. and Semina,E.V.
  TITLE     Identification of missense MAB21L1 variants in microphthalmia and
            aniridia
  JOURNAL   Hum Mutat 42 (7), 877-890 (2021)
   PUBMED   33973683
  REMARK    GeneRIF: Identification of missense MAB21L1 variants in
            microphthalmia and aniridia.
REFERENCE   5  (bases 1 to 2901)
  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   6  (bases 1 to 2901)
  AUTHORS   Smith,M., Woodroffe,A., Smith,R., Holguin,S., Martinez,J.,
            Filipek,P.A., Modahl,C., Moore,B., Bocian,M.E., Mays,L.,
            Laulhere,T., Flodman,P. and Spence,M.A.
  TITLE     Molecular genetic delineation of a deletion of chromosome
            13q12-->q13 in a patient with autism and auditory processing
            deficits
  JOURNAL   Cytogenet Genome Res 98 (4), 233-239 (2002)
   PUBMED   12826745
REFERENCE   7  (bases 1 to 2901)
  AUTHORS   Meira-Lima,I.V., Zhao,J., Sham,P., Pereira,A.C., Krieger,J.E. and
            Vallada,H.
  TITLE     Association and linkage studies between bipolar affective disorder
            and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and
            KCNN3
  JOURNAL   Mol Psychiatry 6 (5), 565-569 (2001)
   PUBMED   11526470
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2901)
  AUTHORS   Mariani,M., Baldessari,D., Francisconi,S., Viggiano,L., Rocchi,M.,
            Zappavigna,V., Malgaretti,N. and Consalez,G.G.
  TITLE     Two murine and human homologs of mab-21, a cell fate determination
            gene involved in Caenorhabditis elegans neural development
  JOURNAL   Hum Mol Genet 8 (13), 2397-2406 (1999)
   PUBMED   10556287
REFERENCE   9  (bases 1 to 2901)
  AUTHORS   Margolis,R.L., Stine,O.C., Ward,C.M., Franz,M.L., Rosenblatt,A.,
            Callahan,C., Sherr,M., Ross,C.A. and Potter,N.T.
  TITLE     Unstable expansion of the CAG trinucleotide repeat in MAB21L1:
            report of a second pedigree and effect on protein expression
  JOURNAL   J Med Genet 36 (1), 62-64 (1999)
   PUBMED   9950369
REFERENCE   10 (bases 1 to 2901)
  AUTHORS   Margolis,R.L., Stine,O.C., McInnis,M.G., Ranen,N.G.,
            Rubinsztein,D.C., Leggo,J., Brando,L.V., Kidwai,A.S., Loev,S.J.,
            Breschel,T.S., Callahan,C., Simpson,S.G., DePaulo,J.R.,
            McMahon,F.J., Jain,S., Paykel,E.S., Walsh,C., DeLisi,L.E.,
            Crow,T.J., Torrey,E.F., Ashworth,R.G., Macke,J.P., Nathans,J. and
            Ross,C.A.
  TITLE     cDNA cloning of a human homologue of the Caenorhabditis elegans
            cell fate-determining gene mab-21: expression, chromosomal
            localization and analysis of a highly polymorphic (CAG)n
            trinucleotide repeat
  JOURNAL   Hum Mol Genet 5 (5), 607-616 (1996)
   PUBMED   8733127
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313185.1 and AL390071.9.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005584.4.
            
            Summary: This gene is similar to the MAB-21 cell fate-determining
            gene found in C. elegans. It may be involved in eye and cerebellum
            development, and it has been proposed that expansion of a
            trinucleotide repeat region in the 5' UTR may play a role in a
            variety of psychiatric disorders. [provided by RefSeq, Oct 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AB593022.1, SRR1803612.21536.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379919.6/ ENSP00000369251.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-375               AK313185.1         1-375
            376-2901            AL390071.9         36022-38547         c
FEATURES             Location/Qualifiers
     source          1..2901
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..2901
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="mab-21 like 1"
                     /db_xref="GeneID:4081"
                     /db_xref="HGNC:HGNC:6757"
                     /db_xref="MIM:601280"
     exon            1..2901
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /inference="alignment:Splign:2.1.0"
     CDS             552..1631
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="mab-21-like protein 1"
                     /codon_start=1
                     /product="putative nucleotidyltransferase MAB21L1"
                     /protein_id="NP_005575.1"
                     /db_xref="CCDS:CCDS9353.1"
                     /db_xref="GeneID:4081"
                     /db_xref="HGNC:HGNC:6757"
                     /db_xref="MIM:601280"
                     /translation="MIAAQAKLVYHLNKYYNEKCQARKAAIAKTIREVCKVVSDVLKE
                     VEVQEPRFISSLNEMDNRYEGLEVISPTEFEVVLYLNQMGVFNFVDDGSLPGCAVLKL
                     SDGRKRSMSLWVEFITASGYLSARKIRSRFQTLVAQAVDKCSYRDVVKMVADTSEVKL
                     RIRDRYVVQITPAFKCTGIWPRSAAHWPLPHIPWPGPNRVAEVKAEGFNLLSKECHSL
                     AGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSILKTLRDRHLELPGQPLNNYHMKT
                     LVSYECEKHPRESDWDESCLGDRLNGILLQLISCLQCRRCPHYFLPNLDLFQGKPHSA
                     LENAAKQTWRLAREILTNPKSLEKL"
     regulatory      2471..2476
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="hexamer: AATGAA"
     regulatory      2481..2486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="hexamer: AATAAA"
     polyA_site      2487
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="major polyA site"
     polyA_site      2508
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
     regulatory      2605..2610
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="hexamer: AATAAA"
     polyA_site      2623
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
     regulatory      2876..2881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
                     /note="hexamer: AATAAA"
     polyA_site      2901
                     /gene="MAB21L1"
                     /gene_synonym="CAGR1; COFG; Nbla00126"
ORIGIN      
        1 agacaaacca acagcagctt cttctgacat atacacacgc acactcaccc cggacacaca
       61 ctcagcacac ttttcctcca tttgattaac agtgctgcac acacaatgat tacgggaaag
      121 cgcaaataaa tacggaaagg ggtgcttatt ttgactactg gaagagcttt gctgggtctc
      181 agcgcaactt ttgtttttta ttcctgagaa ggtgatctct ccatgcggtt ctctcacaca
      241 aggattcttt aaaagaggaa gagagacaag cagagggggg aggacagtct ttcactttaa
      301 gaacggctgg gctcaaagat aaaaggaagg gaaaagcagc agcagcagca gcagcagcag
      361 cagcagcagc agcagcagca gcagcagcag cagggaaacc aacgctgcag cacttccgaa
      421 aggcattttt gatccatttc tgagtgttgc ggcccgtttc tccaccgaag ttggctccag
      481 ctctagcagc cgcattggat cccacagctt actgcgagac tccggtgtac aatccggatc
      541 tctgccccaa catgattgcg gcccaggcca agctggtcta ccatctgaat aaatactaca
      601 acgaaaaatg ccaagccagg aaagctgcca ttgccaaaac tatccgggaa gtctgcaaag
      661 tagtttccga cgtactgaag gaagtggaag tgcaggagcc gcggttcatc agctctctca
      721 acgagatgga caatcgctac gagggcctcg aggtcatctc ccccaccgaa tttgaagtgg
      781 tgctttatct caaccaaatg ggggtgttca acttcgtgga cgatggctca ctgcccggct
      841 gcgcggtgct gaagttgagc gacgggcgca agaggagcat gtccctctgg gtggaattca
      901 ttaccgcctc cggctacctc tcggcgcgca aaatccggtc caggtttcag acgctggtgg
      961 ctcaagcggt agacaaatgt agctaccggg atgtggtaaa gatggtggca gacaccagcg
     1021 aagtgaaact gagaatccga gataggtacg tggtgcagat cacgccggcc tttaaatgca
     1081 ccgggatctg gccgaggagt gctgcccact ggccacttcc ccacatcccc tggccgggac
     1141 ccaaccgggt ggcggaggtc aaggcggaag gtttcaatct cttgtccaag gagtgccact
     1201 ccttggccgg caagcagagc tcggcggaga gcgacgcctg ggtgctgcag ttcgcggagg
     1261 cagagaacag actgcagatg gggggctgca gaaagaagtg cctctccatc ctcaaaacct
     1321 taagggatcg tcaccttgaa ctgccgggcc agcccttgaa caattaccat atgaagactc
     1381 tggtttccta cgagtgtgaa aagcatcccc gagagtcgga ctgggacgag tcttgcctgg
     1441 gtgatcggct gaacgggatt ttgctgcaac ttatctcctg cctgcagtgc cggcggtgtc
     1501 cccactactt tctaccgaac ttagatctgt ttcaaggcaa acctcactca gctctggaaa
     1561 acgctgccaa acaaacgtgg cgactggcaa gagagatcct gaccaacccg aaaagtttgg
     1621 aaaaacttta gaggatgatt taatcaagag ccgaaattat tacccttctc aaagtcctta
     1681 ttaagtgtaa acttctgttc aattcctaat attccactcc gcagtgcaaa caatctcttc
     1741 ctttaaaaag gaataataat acaatattta aacatcatct cacccacccc cacaagggga
     1801 gaaaaagtag gggaagcgga tggagaaaaa cccaaagcca ctagtattag aagacttctt
     1861 tccacacgat ttcctatctc ccttgaaaag tacaccgtaa cactccgtaa acagcccagc
     1921 tgtaacgcca gaccgagacg aacactctgc ctaactatca aaggattata gcaatcctgg
     1981 tgatttaggt gcatctgtct gtgagtaaac acgatttgga tatgccatct gaaagaaact
     2041 gtaatgtata ttttgatttg taacaaatat tgtgatctca cattgtcttt gaaagtgtgg
     2101 atgttggtgt tttgtgattt ggtgaacaga acttaaattg ccattctgga tacttccaga
     2161 cattttccac taacaaagat atcatttaaa ggtagatttc ttcctggtac ttttatctgt
     2221 ctttgaaagt gtctgaactt taaaaagttt acattttgtt tcaaatattg cttgttctat
     2281 ttctaacatt ccataaatat acttgaaatg ttatttaaat atattcaaag aaatttgaat
     2341 tcagcttata taataacgct tgaatatctg aattatatat ttgaaaaatg cacttgaaat
     2401 acactggata attacttttg tgatttagat tttaatttgt tgctggtttt tatttaatta
     2461 gatggtaata aatgaagtaa aataaaagtt gttgtgtctc actttaaatt gtttcctatc
     2521 acaagatgta atgatgcatt ttgaaaatca aacccacttg aatatcttaa atattttgag
     2581 aaatatgcta atgaaatcct taaaaataaa acattggaga aaagctcttt ctgtataggt
     2641 ccataagata acaatctact ctcagtctct aacttacttg taagacaatt cctttctaca
     2701 acagaaacaa tttaaatcta cctttgaaag cttgctcttc ttgtagcatt tttgataata
     2761 taagaaaaaa agtctatcat gacagtagag atgactgagt taaaaatctg actaattcag
     2821 aggaaatgaa cttaacaaag tcataatgaa acttcgaaaa ttatgtatga aaactaataa
     2881 aacgatcctt tctgaccaat a
//
