LOCUS       NM_001314050            2504 bp    mRNA    linear   PRI 17-FEB-2024
DEFINITION  Homo sapiens crystallin alpha A2 (LOC102724652), transcript variant
            1, mRNA.
ACCESSION   NM_001314050 XM_006723930 XM_006726801
VERSION     NM_001314050.5
KEYWORDS    RefSeq; RefSeq 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 2504)
  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   2  (bases 1 to 2504)
  AUTHORS   Yuan,L., Yao,H., Xu,Y., Chen,M., Deng,J., Song,Y., Sui,T., Wang,Y.,
            Huang,Y., Li,Z. and Lai,L.
  TITLE     CRISPR/Cas9-Mediated Mutation of alphaA-Crystallin Gene Induces
            Congenital Cataracts in Rabbits
  JOURNAL   Invest Ophthalmol Vis Sci 58 (6), BIO34-BIO41 (2017)
   PUBMED   28475701
  REMARK    GeneRIF: CRISPR/Cas9-mediated mutation of the alphaA-crystallin
            gene in rabbits recapitulates phenotypes of congenital cataracts,
            microphthalmia, obscurity, and early atrophy of the lens, and
            failed differentiation of lens fibers.
REFERENCE   3  (bases 1 to 2504)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            FP236240.8.
            
            On Aug 14, 2020 this sequence version replaced NM_001314050.4.
            
            Sequence Note: NM_001314050 is annotated on a scaffold that is
            thought to be a false duplication and thus this accession is likely
            redundant with NM_000394.
            
            ##Evidence-Data-START##
            CDS exon combination :: KM220589.1, ERR279875.6795.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1968540,
                                    SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-571               FP236240.8         71945-72515
            572-746             FP236240.8         73762-73936
            747-1646            FP236240.8         132814-133713
            1647-1769           FP236240.8         134943-135065
            1770-2504           FP236240.8         136497-137231
FEATURES             Location/Qualifiers
     source          1..2504
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21p12"
     gene            1..2504
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /note="crystallin alpha A2"
                     /db_xref="GeneID:102724652"
     exon            1..571
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /inference="alignment:Splign:2.1.0"
     exon            572..746
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /inference="alignment:Splign:2.1.0"
     exon            747..1646
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             1458..1979
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     alpha-crystallin A chain; alpha-crystallin A2 chain"
                     /codon_start=1
                     /product="alpha-crystallin A2 chain isoform 1"
                     /protein_id="NP_001300979.1"
                     /db_xref="GeneID:102724652"
                     /translation="MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTI
                     SPYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNE
                     RQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIP
                     VSREEKPTSAPSS"
     exon            1647..1769
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..2504
                     /gene="LOC102724652"
                     /gene_synonym="CRYAA; CRYAA2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 actgctgccg acgccgccga ccctgccgac gcccgcggga gacgtcaccc ggacgcgacg
       61 acgctcttcc ccgccccgac gtggcagcgc tacccagtca ggcgaggtgc tgcctgcgcg
      121 tgggcgggac gcatgcgcgt agggagcacg tagtgcgcgt gggaggctcc gccttttcgg
      181 tcctgggaac ccgcgccccc tgccggtgcc ctccccgccc ggccctagct ctctcgcctt
      241 ctcgcccgcc cggcgctggc cctgctggat cctgcgcgcc ggggactggg ggctggcagt
      301 gcagaccgaa cccggggccg aggggcttct ccacagagcc gcctggggct cggtgggggg
      361 cgctcagctc gaccccagct aagggagcac taggaagtgc gggcgtcccc ttccctgcac
      421 ccttgcgggg cgggaaccgt cgacctagaa gaaaaaaaaa gctgaggcaa acttgatata
      481 agtagagagg ttatttgggc caagtttgaa gattgcaacc cgggagcata gcttcaagtt
      541 gccctgaaca taggatttgc aacagtgaca aaggtgaggc cagagaagtg acaagacaga
      601 tgccagtcca gcaggtgggc atgtccagaa agtgcagcct caggacacgg tctgggaaca
      661 aagactgctg gagagttgga agctggcaag aggctctcag ctgtgaagta cctggggtgg
      721 gggagaagtg gtcggagaaa gcagagccca gcccgtcttc ctgttggagg catgtgaccc
      781 ctggaggaca agcatgaaac gccatagggc tcccccaggt gctggaatta tggcaccttg
      841 cagcttcttc tccacgagtt ttaacaagca tgcgtacttt tgtaagtggt gagtgtaacg
      901 gaggttcaca gatgcactcc gctttggaaa ccagtgcact cttgcccagg cccggtgaga
      961 ctctgacgac gatgtgtcta acctctgtgt ctaacggggg tgtgggctct ccctcctctg
     1021 gcgaccatga ggaccacccc ggcaggacaa ggtgtgcaga gaactagcat ggtccctggc
     1081 acgtagcccc tgcccagtga ctggcagatg agaagctcca ttgtcgcccc aggcgagtat
     1141 ggggcacagg cgcctccttg ggttgtctgc cctcccggga gccccagggt gcccaggcgg
     1201 gcctcagctg agtccaggcc tcggggacag tccgtgcagc ccctcctggg gctgggggcg
     1261 ggcacttgtc ccagccacgt ttctgctgac tgagcagcct tcttcatgag ctcacgcctt
     1321 tccagagaaa tcccttaatg cctccattct gctggtggca tatataggga gggctcggcc
     1381 ttggctccac actgcgctgc ccagaggccc cgctgactcc tgccagcctc caggtccccg
     1441 tggtaccaaa gctgaacatg gatgtgacca tccagcaccc ctggttcaag cgcaccctgg
     1501 ggcccttcta ccccagccgg ctgttcgacc agtttttcgg cgagggcctt tttgagtatg
     1561 acctgctgcc cttcctgtcg tccaccatca gcccctacta ccgccagtcc ctcttccgca
     1621 ccgtgctgga ctccggcatc tctgaggttc gatccgaccg ggacaagttc gtcatcttcc
     1681 tcgatgtgaa gcacttctcc ccggaggacc tcaccgtgaa ggtgcaggac gactttgtgg
     1741 agatccacgg aaagcacaac gagcgccagg acgaccacgg ctacatttcc cgtgagttcc
     1801 accgccgcta ccgcctgccg tccaacgtgg accagtcggc cctctcttgc tccctgtctg
     1861 ccgatggcat gctgaccttc tgtggcccca agatccagac tggcctggat gccacccacg
     1921 ccgagcgagc catccccgtg tcgcgggagg agaagcccac ctcggctccc tcgtcctaag
     1981 caggcattgc ctcggctggc tcccctgcag ccctggccca tcatgggggg agcaccctga
     2041 gggcggggtg tctgtcttcc tttgcttccc ttttttcctt tccaccttct cacatggaat
     2101 gagggtttga gagagcagcc aggagagctt agggtctcag ggtgtcccag accccgacac
     2161 cggccagtgg cggaagtgac cgcacctcac actcctttag atagcagcct ggctcccctg
     2221 gggtgcaggc gcctcaactc tgctgagggt ccagaaggag ggggtgacct ccggccaggt
     2281 gcctcctgac acacctgcag cctccctccg cggcgggccc tgcccacacc tcctggggcg
     2341 cgtgaggccc gtggggccgg ggcttctgtg cacctgggct ctcgcggcct cttctctcag
     2401 accgtcttcc tccaacccct ctatgtagtg ccgctcttgg ggacatgggt cgcccatgag
     2461 agcgcagccc gcggcaatca ataaacagca ggtgatacaa gcaa
//
