LOCUS       NM_015974               1483 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens crystallin lambda 1 (CRYL1), transcript variant 1,
            mRNA.
ACCESSION   NM_015974
VERSION     NM_015974.3
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 1483)
  AUTHORS   Chiang,Y.T., Lin,P.H., Lo,M.Y., Chen,H.L., Lee,C.Y., Tsai,C.Y.,
            Lin,Y.H., Tsai,S.F., Liu,T.C., Hsu,C.J., Chen,P.L., Hsu,J.S. and
            Wu,C.C.
  TITLE     Genetic Factors Contribute to the Phenotypic Variability in
            GJB2-Related Hearing Impairment
  JOURNAL   J Mol Diagn 25 (11), 827-837 (2023)
   PUBMED   37683890
  REMARK    GeneRIF: Genetic Factors Contribute to the Phenotypic Variability
            in GJB2-Related Hearing Impairment.
REFERENCE   2  (bases 1 to 1483)
  AUTHORS   Huang,Y., Zheng,J., Chen,D., Li,F., Wu,W., Huang,X., Wu,Y., Deng,Y.
            and Qiu,F.
  TITLE     Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric
            transcript in hepatocellular carcinoma
  JOURNAL   Oncotarget 8 (25), 40693-40704 (2017)
   PUBMED   28489570
  REMARK    GeneRIF: Data suggest that the function of the fusion transcript
            crystallin, lambda 1 protein - intraflagellar transport 88
            (CRYL1-IFT88) is closed to CRYL1 because it contained most of
            domain of CRYL1.
REFERENCE   3  (bases 1 to 1483)
  AUTHORS   Low,S.K., Chung,S., Takahashi,A., Zembutsu,H., Mushiroda,T.,
            Kubo,M. and Nakamura,Y.
  TITLE     Genome-wide association study of chemotherapeutic agent-induced
            severe neutropenia/leucopenia for patients in Biobank Japan
  JOURNAL   Cancer Sci 104 (8), 1074-1082 (2013)
   PUBMED   23648065
REFERENCE   4  (bases 1 to 1483)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 1483)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   6  (bases 1 to 1483)
  AUTHORS   Ishikura,S., Usami,N., Araki,M. and Hara,A.
  TITLE     Structural and functional characterization of rabbit and human
            L-gulonate 3-dehydrogenase
  JOURNAL   J Biochem 137 (3), 303-314 (2005)
   PUBMED   15809331
REFERENCE   7  (bases 1 to 1483)
  AUTHORS   Dunham,A., Matthews,L.H., Burton,J., Ashurst,J.L., Howe,K.L.,
            Ashcroft,K.J., Beare,D.M., Burford,D.C., Hunt,S.E.,
            Griffiths-Jones,S., Jones,M.C., Keenan,S.J., Oliver,K., Scott,C.E.,
            Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,D.T.,
            Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Bannerjee,R.,
            Barlow,K.F., Bates,K., Beasley,H., Bird,C.P., Bray-Allen,S.,
            Brown,A.J., Brown,J.Y., Burrill,W., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M.E., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S.C., Cobley,V., Collins,J.E., Corby,N., Coville,G.J.,
            Deloukas,P., Dhami,P., Dunham,I., Dunn,M., Earthrowl,M.E.,
            Ellington,A.G., Faulkner,L., Frankish,A.G., Frankland,J.,
            French,L., Garner,P., Garnett,J., Gilbert,J.G., Gilson,C.J.,
            Ghori,J., Grafham,D.V., Gribble,S.M., Griffiths,C., Hall,R.E.,
            Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Howden,P.J.,
            Huckle,E.J., Hunt,P.J., Hunt,A.R., Johnson,C., Johnson,D., Kay,M.,
            Kimberley,A.M., King,A., Laird,G.K., Langford,C.J., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Lloyd,C., Loveland,J.E.,
            Lovell,J., Martin,S., Mashreghi-Mohammadi,M., McLaren,S.J.,
            McMurray,A., Milne,S., Moore,M.J., Nickerson,T., Palmer,S.A.,
            Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K.M.,
            Rice,C.M., Searle,S., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Steward,C.A., Sycamore,N., Tester,J., Thomas,D.W.,
            Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P.,
            Whitehead,S.L., Willey,D.L., Wilming,L., Wray,P.W., Wright,M.W.,
            Young,L., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Beck,S.,
            Bentley,D.R., Rogers,J. and Ross,M.T.
  TITLE     The DNA sequence and analysis of human chromosome 13
  JOURNAL   Nature 428 (6982), 522-528 (2004)
   PUBMED   15057823
REFERENCE   8  (bases 1 to 1483)
  AUTHORS   Chen,J., Yu,L., Li,D., Gao,Q., Wang,J., Huang,X., Bi,G., Wu,H. and
            Zhao,S.
  TITLE     Human CRYL1, a novel enzyme-crystallin overexpressed in liver and
            kidney and downregulated in 58% of liver cancer tissues from 60
            Chinese patients, and four new homologs from other mammalians
  JOURNAL   Gene 302 (1-2), 103-113 (2003)
   PUBMED   12527201
REFERENCE   9  (bases 1 to 1483)
  AUTHORS   Mulders,J.W., Hendriks,W., Blankesteijn,W.M., Bloemendal,H. and de
            Jong,W.W.
  TITLE     Lambda-crystallin, a major rabbit lens protein, is related to
            hydroxyacyl-coenzyme A dehydrogenases
  JOURNAL   J Biol Chem 263 (30), 15462-15466 (1988)
   PUBMED   3170592
  REMARK    GeneRIF: rabbit lambda-crystallin constitutes 7-8% of total lens
            protein
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071810.1, BC119660.1,
            AL590096.16 and BQ006686.1.
            
            On Nov 23, 2018 this sequence version replaced NM_015974.2.
            
            Summary: The uronate cycle functions as an alternative glucose
            metabolic pathway, accounting for about 5% of daily glucose
            catabolism. The product of this gene catalyzes the dehydrogenation
            of L-gulonate into dehydro-L-gulonate in the uronate cycle. The
            enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic
            phosphate. A similar gene in the rabbit is thought to serve a
            structural role in the lens of the eye. [provided by RefSeq, Jul
            2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.221937.1,
                                           SRR3476690.518487.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298248.12/ ENSP00000298248.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                BC071810.1         17-97
            82-323              BC119660.1         1-242
            324-324             AL590096.16        19782-19782         c
            325-1265            BC119660.1         244-1184
            1266-1483           BQ006686.1         18-235              c
FEATURES             Location/Qualifiers
     source          1..1483
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..1483
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /note="crystallin lambda 1"
                     /db_xref="GeneID:51084"
                     /db_xref="HGNC:HGNC:18246"
                     /db_xref="MIM:609877"
     exon            1..104
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..1023
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /EC_number="1.1.1.45"
                     /note="isoform 1 is encoded by transcript variant 1;
                     crystallin, lamda 1; L-gulonate 3-dehydrogenase;
                     lambda-crystallin homolog; epididymis luminal protein 30;
                     testicular tissue protein Li 44"
                     /codon_start=1
                     /product="lambda-crystallin homolog isoform 1"
                     /protein_id="NP_057058.2"
                     /db_xref="CCDS:CCDS41871.1"
                     /db_xref="GeneID:51084"
                     /db_xref="HGNC:HGNC:18246"
                     /db_xref="MIM:609877"
                     /translation="MASSAAGCVVIVGSGVIGRSWAMLFASGGFQVKLYDIEQQQIRN
                     ALENIRKEMKLLEQAGSLKGSLSVEEQLSLISGCPNIQEAVEGAMHIQECVPEDLELK
                     KKIFAQLDSIIDDRVILSSSTSCLMPSKLFAGLVHVKQCIVAHPVNPPYYIPLVELVP
                     HPETAPTTVDRTHALMKKIGQCPMRVQKEVAGFVLNRLQYAIISEAWRLVEEGIVSPS
                     DLDLVMSEGLGMRYAFIGPLETMHLNAEGMLSYCDRYSEGIKHVLQTFGPIPEFSRAT
                     AEKVNQDMCMKVPDDPEHLAARRQWRDECLMRLAKLKSQVQPQ"
     exon            105..212
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            213..339
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            340..501
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            502..696
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            697..802
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            803..909
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1483
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1458..1463
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /note="hexamer: AATAAA"
     polyA_site      1483
                     /gene="CRYL1"
                     /gene_synonym="GDH; gul3DH; HEL30; lambda-CRY"
                     /note="major polyA site"
ORIGIN      
        1 agagctcgca gctccgccgg cgcctggtcc cagcgcccgc ggcgccgcgt ccccggccca
       61 accatggcgt cctccgcggc cggctgcgtg gtgatcgttg gcagtggagt cattgggcga
      121 agctgggcca tgctgtttgc cagtggaggc ttccaggtga aactctatga cattgagcaa
      181 cagcagataa ggaacgccct ggaaaacatc agaaaggaga tgaagttgct ggagcaggca
      241 ggttctctga aaggctccct gagtgtggaa gagcagctgt cactcatcag tggttgtccc
      301 aatatccaag aagcagtaga gggtgccatg cacattcagg aatgtgttcc agaagatcta
      361 gaactgaaga agaagatttt tgctcagtta gattccatca ttgatgatcg agtgatctta
      421 agcagttcca cttcttgtct catgccttcc aagttgtttg ctggcttggt ccatgtgaag
      481 caatgcatcg tggctcatcc tgtgaatccg ccatactaca tcccgctggt tgagctggtc
      541 ccccacccgg agacggcccc tacgacagtg gacagaaccc acgccctgat gaagaagatt
      601 ggacagtgcc ccatgcgagt ccagaaggag gtggccggct tcgttctgaa ccgcctgcaa
      661 tatgcaatca tcagcgaggc ctggcggcta gtggaggaag gaatcgtgtc tcctagtgac
      721 ctggaccttg tcatgtcaga agggttgggc atgcggtatg cattcattgg acccctggaa
      781 accatgcatc tcaatgcaga aggtatgtta agctactgcg acagatacag cgaaggcata
      841 aaacatgtcc tacagacttt tggacccatt ccagagtttt ccagggccac tgctgagaag
      901 gttaaccagg acatgtgcat gaaggtccct gatgacccgg agcacttagc tgccaggagg
      961 cagtggaggg acgagtgcct catgagactc gccaagttga agagtcaagt gcagccccag
     1021 tgaatttctt gtaatgcagc ttccactcct ctcattggag gccctatttg ggaacactgc
     1081 aagcccttaa tcagccctct gtgacatagg tagcagccca cggagatcct aagctggctg
     1141 tcttgtgtgc agcctgagtg gggtggtgca ggccggtagt ctgcccgtca ctttggatca
     1201 tagccctggg cctggcggca cagcagcact tgcgttctcg gggctgtcga tttcctgcca
     1261 cctgggcaga taacctggag attttcacct tttcttttca gcttgattgc atttgactat
     1321 attttacagc cagtgattgt agtttcatgt taatatgtgg caaaatattt ttgtaattat
     1381 tttctaatcc ctttctgagt actctggggc cctgcattta tgaggcacct accttcattt
     1441 tgctaacgct tattctgaat aaaagttttt gattccttaa aga
//
