LOCUS       NM_001376256            1244 bp    mRNA    linear   PRI 24-MAR-2024
DEFINITION  Homo sapiens crystallin mu (CRYM), transcript variant 2, mRNA.
ACCESSION   NM_001376256 XM_024450157
VERSION     NM_001376256.1
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 1244)
  AUTHORS   Ollivier,M., Soto,J.S., Linker,K.E., Moye,S.L., Jami-Alahmadi,Y.,
            Jones,A.E., Divakaruni,A.S., Kawaguchi,R., Wohlschlegel,J.A. and
            Khakh,B.S.
  TITLE     Crym-positive striatal astrocytes gate perseverative behaviour
  JOURNAL   Nature 627 (8003), 358-366 (2024)
   PUBMED   38418885
  REMARK    GeneRIF: Crym-positive striatal astrocytes gate perseverative
            behaviour.
REFERENCE   2  (bases 1 to 1244)
  AUTHORS   Sakkaki,E., Jafari,B., Gharesouran,J. and Rezazadeh,M.
  TITLE     Gene expression patterns of CRYM and SIGLEC10 in Alzheimer's
            disease: potential early diagnostic indicators
  JOURNAL   Mol Biol Rep 51 (1), 349 (2024)
   PUBMED   38401023
  REMARK    GeneRIF: Gene expression patterns of CRYM and SIGLEC10 in
            Alzheimer's disease: potential early diagnostic indicators.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1244)
  AUTHORS   Aksoy,O., Pencik,J., Hartenbach,M., Moazzami,A.A., Schlederer,M.,
            Balber,T., Varady,A., Philippe,C., Baltzer,P.A., Mazumder,B.,
            Whitchurch,J.B., Roberts,C.J., Haitel,A., Herac,M., Susani,M.,
            Mitterhauser,M., Marculescu,R., Stangl-Kremser,J., Hassler,M.R.,
            Kramer,G., Shariat,S.F., Turner,S.D., Tichy,B., Oppelt,J.,
            Pospisilova,S., Hartenbach,S., Tangermann,S., Egger,G.,
            Neubauer,H.A., Moriggl,R., Culig,Z., Greiner,G., Hoermann,G.,
            Hacker,M., Heery,D.M., Merkel,O. and Kenner,L.
  TITLE     Thyroid and androgen receptor signaling are antagonized by
            mu-Crystallin in prostate cancer
  JOURNAL   Int J Cancer 148 (3), 731-747 (2021)
   PUBMED   33034050
  REMARK    GeneRIF: Thyroid and androgen receptor signaling are antagonized by
            mu-Crystallin in prostate cancer.
REFERENCE   4  (bases 1 to 1244)
  AUTHORS   Abe,S., Katagiri,T., Saito-Hisaminato,A., Usami,S., Inoue,Y.,
            Tsunoda,T. and Nakamura,Y.
  TITLE     Identification of CRYM as a candidate responsible for nonsyndromic
            deafness, through cDNA microarray analysis of human cochlear and
            vestibular tissues
  JOURNAL   Am J Hum Genet 72 (1), 73-82 (2003)
   PUBMED   12471561
  REMARK    GeneRIF: Identification of CRYM as a candidate responsible for
            nonsyndromic deafness, through cDNA microarray analysis of human
            cochlear and vestibular tissues
REFERENCE   5  (bases 1 to 1244)
  AUTHORS   Mori,J., Suzuki,S., Kobayashi,M., Inagaki,T., Komatsu,A.,
            Takeda,T., Miyamoto,T., Ichikawa,K. and Hashizume,K.
  TITLE     Nicotinamide adenine dinucleotide phosphate-dependent cytosolic
            T(3) binding protein as a regulator for T(3)-mediated
            transactivation
  JOURNAL   Endocrinology 143 (4), 1538-1544 (2002)
   PUBMED   11897713
REFERENCE   6  (bases 1 to 1244)
  AUTHORS   Vie,M.P., Evrard,C., Osty,J., Breton-Gilet,A., Blanchet,P.,
            Pomerance,M., Rouget,P., Francon,J. and Blondeau,J.P.
  TITLE     Purification, molecular cloning, and functional expression of the
            human nicodinamide-adenine dinucleotide phosphate-regulated thyroid
            hormone-binding protein
  JOURNAL   Mol Endocrinol 11 (11), 1728-1736 (1997)
   PUBMED   9328354
REFERENCE   7  (bases 1 to 1244)
  AUTHORS   Segovia,L., Horwitz,J., Gasser,R. and Wistow,G.
  TITLE     Two roles for mu-crystallin: a lens structural protein in diurnal
            marsupials and a possible enzyme in mammalian retinas
  JOURNAL   Mol Vis 3, 9 (1997)
   PUBMED   9285773
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 1244)
  AUTHORS   Vie,M.P., Blanchet,P., Samson,M., Francon,J. and Blondeau,J.P.
  TITLE     High affinity thyroid hormone-binding protein in human kidney:
            kinetic characterization and identification by photoaffinity
            labeling
  JOURNAL   Endocrinology 137 (11), 4563-4570 (1996)
   PUBMED   8895318
REFERENCE   9  (bases 1 to 1244)
  AUTHORS   Chen,H., Phillips,H.A., Callen,D.F., Kim,R.Y., Wistow,G.J. and
            Antonarakis,S.E.
  TITLE     Localization of the human gene for mu-crystallin to chromosome 16p
  JOURNAL   Genomics 14 (4), 1115-1116 (1992)
   PUBMED   1478656
REFERENCE   10 (bases 1 to 1244)
  AUTHORS   Kim,R.Y., Gasser,R. and Wistow,G.J.
  TITLE     mu-crystallin is a mammalian homologue of Agrobacterium ornithine
            cyclodeaminase and is expressed in human retina
  JOURNAL   Proc Natl Acad Sci U S A 89 (19), 9292-9296 (1992)
   PUBMED   1384048
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290852.1 and BX648477.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 13, 2019 this sequence version replaced XM_024450157.1.
            
            Summary: Crystallins are separated into two classes: taxon-specific
            and ubiquitous. The former class is also called
            phylogenetically-restricted crystallins. The latter class
            constitutes the major proteins of vertebrate eye lens and maintains
            the transparency and refractive index of the lens. This gene
            encodes a taxon-specific crystallin protein that binds NADPH and
            has sequence similarity to bacterial ornithine cyclodeaminases. The
            encoded protein does not perform a structural role in lens tissue,
            and instead it binds thyroid hormone for possible regulatory or
            developmental roles. Mutations in this gene have been associated
            with autosomal dominant non-syndromic deafness. [provided by
            RefSeq, Sep 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 exon combination :: BC018061.1, L02950.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000572914.2/ ENSP00000461904.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1243              AK290852.1         32-1274
            1244-1244           BX648477.1         1472-1472
FEATURES             Location/Qualifiers
     source          1..1244
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..1244
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /note="crystallin mu"
                     /db_xref="GeneID:1428"
                     /db_xref="HGNC:HGNC:2418"
                     /db_xref="MIM:123740"
     exon            1..209
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..984
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /EC_number="1.5.1.25"
                     /note="NADP-regulated thyroid-hormone binding protein;
                     mu-crystallin homolog; thiomorpholine-carboxylate
                     dehydrogenase"
                     /codon_start=1
                     /product="ketimine reductase mu-crystallin"
                     /protein_id="NP_001363185.1"
                     /db_xref="CCDS:CCDS10597.1"
                     /db_xref="GeneID:1428"
                     /db_xref="HGNC:HGNC:2418"
                     /db_xref="MIM:123740"
                     /translation="MSRVPAFLSAAEVEEHLRSSSLLIPPLETALANFSSGPEGGVMQ
                     PVRTVVPVTKHRGYLGVMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFEPS
                     NGTLLAVMDGNVITAKRTAAVSAIATKFLKPPSSEVLCILGAGVQAYSHYEIFTEQFS
                     FKEVRIWNRTKENAEKFADTVQGEVRVCSSVQEAVAGADVIITVTLATEPILFGEWVK
                     PGAHINAVGASRPDWRELDDELMKEAVLYVDSQEAALKESGDVLLSGAEIFAELGEVI
                     KGVKPAHCEKTTVFKSLGMAVEDTVAAKLIYDSWSSGK"
     exon            210..363
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            364..426
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            427..528
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            529..712
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            713..834
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            835..919
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1244
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1221..1226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /note="hexamer: AATAAA"
     polyA_site      1244
                     /gene="CRYM"
                     /gene_synonym="DFNA40; THBP"
                     /note="major polyA site"
ORIGIN      
        1 gcggtgcgga gactgaggtt agaaggcaca ggtggcgaga tgagccgggt accagcgttc
       61 ctgagcgcgg ccgaggtgga ggaacacctc cgcagctcca gcctcctcat cccgcctcta
      121 gagacggccc tggccaactt ctccagcggt cccgaaggag gggtcatgca gcccgtgcgc
      181 accgtggtgc cggtgaccaa gcacaggggc tacctggggg tcatgcccgc ctacagtgct
      241 gcagaggatg cactgaccac caagttggtc accttctacg aggaccgcgg catcacctcg
      301 gtcgtccctt cccaccaggc tactgtgcta ctctttgagc ccagcaatgg caccctgctg
      361 gcggtcatgg atggaaatgt cataactgca aagagaacag ctgcagtttc tgccattgcc
      421 accaagtttc tgaaacctcc cagcagtgaa gtgctgtgca tccttggggc tggggtccag
      481 gcctacagcc attatgagat cttcacagag cagttctcct ttaaggaggt gaggatatgg
      541 aaccgcacca aagaaaatgc agagaagttt gcagacacag tgcaaggaga ggtacgggtc
      601 tgttcttcgg tccaggaggc tgtggcaggt gcagatgtga tcatcacagt caccctggca
      661 acagagccca ttttgtttgg tgaatgggtg aagccagggg ctcacatcaa tgctgttgga
      721 gccagcagac ctgactggag agaactggat gatgagctca tgaaagaagc tgtgctgtac
      781 gtggattccc aggaggctgc cctgaaggag tctggagatg tcctgctgtc aggggccgag
      841 atctttgctg agctgggaga agtgattaag ggagtgaaac cagcccactg tgagaagacc
      901 accgtgttca agtctttggg aatggcagtg gaagacacag ttgcagccaa actcatctat
      961 gattcctggt catctggtaa ataaaacaaa ggaacttgat gttgagatgg atgcttgagg
     1021 aatattgctg ctggttctca taatttctag agtaaatgag ggagtccagt ccccagtgaa
     1081 ctctcctttt gtgcttatca tgttttacct taaatgctga gatcctcatt tatgtttgta
     1141 gttggaaagc aaagctaggt agccatttct tctgttctac caagttataa tagcattcat
     1201 ttccctttat atttccctga aataaagcac attccaattg tgca
//
