LOCUS       NM_000394               1139 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens crystallin alpha A (CRYAA), transcript variant 1,
            mRNA.
ACCESSION   NM_000394
VERSION     NM_000394.4
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 1139)
  AUTHORS   Sun,J., Matsubara,T., Koide,T., Lampi,K.J., David,L.L. and
            Takata,T.
  TITLE     Characterization of different-sized human alphaA-crystallin
            homomers and implications to Asp151 isomerization
  JOURNAL   PLoS One 19 (7), e0306856 (2024)
   PUBMED   38991013
  REMARK    GeneRIF: Characterization of different-sized human
            alphaA-crystallin homomers and implications to Asp151
            isomerization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1139)
  AUTHORS   Khan,S., Rana,N., Nasir,H., Rahim,T., Aslam,S., Khan,F., Rahman,G.,
            Hussain,M.Z., Khan,L. and Khan,M.
  TITLE     Mutational analysis of CRYAA gene of cataract and investigating
            risk assessment factors responsible for eye diseases in district
            buner, KPK, Pakistan
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (9), 1-7 (2023)
   PUBMED   37807341
  REMARK    GeneRIF: Mutational analysis of CRYAA gene of cataract and
            investigating risk assessment factors responsible for eye diseases
            in district buner, KPK, Pakistan.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1139)
  AUTHORS   Ma,X., Nan,Y., Huang,C., Li,X., Yang,Y., Jiang,W., Ye,M., Liu,Q.,
            Niu,Y. and Yuan,L.
  TITLE     Expression of alphaA-crystallin (CRYAA) in vivo and in vitro models
            of age-related cataract and the effect of its silencing on HLEB3
            cells
  JOURNAL   Aging (Albany NY) 15 (10), 4498-4509 (2023)
   PUBMED   37253645
  REMARK    GeneRIF: Expression of alphaA-crystallin (CRYAA) in vivo and in
            vitro models of age-related cataract and the effect of its
            silencing on HLEB3 cells.
REFERENCE   4  (bases 1 to 1139)
  AUTHORS   Zhao,Z., Chen,J., Yuan,W., Jiang,Y. and Lu,Y.
  TITLE     Association between single nucleotide polymorphisms in exon 3 of
            the alpha-A-crystallin gene and susceptibility to age-related
            cataract
  JOURNAL   Ophthalmic Genet 44 (2), 127-132 (2023)
   PUBMED   36380611
  REMARK    GeneRIF: Association between single nucleotide polymorphisms in
            exon 3 of the alpha-A-crystallin gene and susceptibility to
            age-related cataract.
REFERENCE   5  (bases 1 to 1139)
  AUTHORS   Zhao,Z., Sun,Y., Fan,Q., Jiang,Y. and Lu,Y.
  TITLE     Structural and functional analysis of SNP rs76740365 G>A in exon-3
            of the alpha A-crystallin gene in lens epithelial cells
  JOURNAL   Mol Vis 28, 317-330 (2022)
   PUBMED   36338667
  REMARK    GeneRIF: Structural and functional analysis of SNP rs76740365 G>A
            in exon-3 of the alpha A-crystallin gene in lens epithelial cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1139)
  AUTHORS   Andley,U.P., Mathur,S., Griest,T.A. and Petrash,J.M.
  TITLE     Cloning, expression, and chaperone-like activity of human
            alphaA-crystallin
  JOURNAL   J Biol Chem 271 (50), 31973-31980 (1996)
   PUBMED   8943244
REFERENCE   7  (bases 1 to 1139)
  AUTHORS   Ortwerth,B.J., Slight,S.H., Prabhakaram,M., Sun,Y. and Smith,J.B.
  TITLE     Site-specific glycation of lens crystallins by ascorbic acid
  JOURNAL   Biochim Biophys Acta 1117 (2), 207-215 (1992)
   PUBMED   1525182
REFERENCE   8  (bases 1 to 1139)
  AUTHORS   Roquemore,E.P., Dell,A., Morris,H.R., Panico,M., Reason,A.J.,
            Savoy,L.A., Wistow,G.J., Zigler,J.S. Jr., Earles,B.J. and Hart,G.W.
  TITLE     Vertebrate lens alpha-crystallins are modified by O-linked
            N-acetylglucosamine
  JOURNAL   J Biol Chem 267 (1), 555-563 (1992)
   PUBMED   1730617
REFERENCE   9  (bases 1 to 1139)
  AUTHORS   Saida,K., Mendell,J.R. and Sahenk,Z.
  TITLE     Peripheral nerve changes induced by local application of bee venom
  JOURNAL   J Neuropathol Exp Neurol 36 (5), 783-796 (1977)
   PUBMED   894324
  REMARK    GeneRIF: Alpha A crystallin is a moonlighting protein that
            functions as a heat shock protein as well as a lens crystallin.
REFERENCE   10 (bases 1 to 1139)
  AUTHORS   de Jong,W.W., Terwindt,E.C. and Bloemendal,H.
  TITLE     The amino acid sequence of the A chain of human alpha-crystallin
  JOURNAL   FEBS Lett 58 (1), 310-313 (1975)
   PUBMED   817940
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX118596.1, BC113598.1 and
            BE552434.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000394.3.
            
            Summary: Mammalian lens crystallins are divided into alpha, beta,
            and gamma families. Alpha crystallins are composed of two gene
            products: alpha-A and alpha-B, for acidic and basic, respectively.
            Alpha crystallins can be induced by heat shock and are members of
            the small heat shock protein (HSP20) family. They act as molecular
            chaperones although they do not renature proteins and release them
            in the fashion of a true chaperone; instead they hold them in large
            soluble aggregates. Post-translational modifications decrease the
            ability to chaperone. These heterogeneous aggregates consist of
            30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio,
            respectively. Two additional functions of alpha crystallins are an
            autokinase activity and participation in the intracellular
            architecture. The encoded protein has been identified as a
            moonlighting protein based on its ability to perform
            mechanistically distinct functions. Alpha-A and alpha-B gene
            products are differentially expressed; alpha-A is preferentially
            restricted to the lens and alpha-B is expressed widely in many
            tissues and organs. Defects in this gene cause autosomal dominant
            congenital cataract (ADCC). [provided by RefSeq, Jan 2014].
            
            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 :: BY794951.2, ERR279841.7247.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000291554.6/
                                               ENSP00000291554.2
            multifunctional gene product(s) :: PMID: 8943244
            RefSeq Select criteria          :: based on conservation, longest
                                               protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                BX118596.1         1-98
            99-706              BC113598.1         28-635
            707-1139            BE552434.1         12-444              c
FEATURES             Location/Qualifiers
     source          1..1139
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..1139
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="crystallin alpha A"
                     /db_xref="GeneID:1409"
                     /db_xref="HGNC:HGNC:2388"
                     /db_xref="MIM:123580"
     exon            1..281
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..614
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     crystallin, alpha-1; human alphaA-crystallin (CRYA1); heat
                     shock protein beta-4; alpha-crystallin A chain; heat shock
                     protein family B member 4"
                     /codon_start=1
                     /product="alpha-crystallin A chain isoform 1"
                     /protein_id="NP_000385.1"
                     /db_xref="CCDS:CCDS13695.1"
                     /db_xref="GeneID:1409"
                     /db_xref="HGNC:HGNC:2388"
                     /db_xref="MIM:123580"
                     /translation="MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTI
                     SPYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNE
                     RQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIP
                     VSREEKPTSAPSS"
     exon            282..404
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /inference="alignment:Splign:2.1.0"
     exon            405..1139
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1115..1120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="hexamer: AATAAA"
     polyA_site      1139
                     /gene="CRYAA"
                     /gene_synonym="CRYA1; CTRCT9; HSPB4"
                     /note="major polyA site"
ORIGIN      
        1 agggagggct cggccttggc tccacactgc gctgcccaga ggccccgctg actcctgcca
       61 gcctccaggt ccccgtggta ccaaagctga acatggacgt gaccatccag cacccctggt
      121 tcaagcgcac cctggggccc ttctacccca gccggctgtt cgaccagttt ttcggcgagg
      181 gcctttttga gtatgacctg ctgcccttcc tgtcgtccac catcagcccc tactaccgcc
      241 agtccctctt ccgcaccgtg ctggactccg gcatctctga ggttcgatcc gaccgggaca
      301 agttcgtcat cttcctcgat gtgaagcact tctccccgga ggacctcacc gtgaaggtgc
      361 aggacgactt tgtggagatc cacggaaagc acaacgagcg ccaggacgac cacggctaca
      421 tttcccgtga gttccaccgc cgctaccgcc tgccgtccaa cgtggaccag tcggccctct
      481 cttgctccct gtctgccgat ggcatgctga ccttctgtgg ccccaagatc cagactggcc
      541 tggatgccac ccacgccgag cgagccatcc ccgtgtcgcg ggaggagaag cccacctcgg
      601 ctccctcgtc ctaagcaggc attgcctcgg ctggctcccc tgcagccctg gcccatcatg
      661 gggggagcac cctgagggcg gggtgtctgt cttcctttgc ttcccttttt tcctttccac
      721 cttctcacat ggaatgaggg tttgagagag cagccaggag agcttagggt ctcagggtgt
      781 cccagacccc gacaccggcc agtggcggaa gtgaccgcac ctcacactcc tttagatagc
      841 agcctggctc ccctggggtg caggcgcctc aactctgctg agggtccaga aggagggggt
      901 gacctccggc caggtgcctc ctgacacacc tgcagcctcc ctccgcggcg ggccctgccc
      961 acacctcctg gggcgcgtga ggcccgtggg gccggggctt ctgtgcacct gggctctcgc
     1021 ggcctcttct ctcagaccgt cttcctccaa cccctctatg tagtgccgct cttggggaca
     1081 tgggtcgccc atgagagcgc agcccgcggc aatcaataaa cagcaggtga tacaagcaa
//
