LOCUS       NM_053277               4197 bp    mRNA    linear   PRI 05-AUG-2024
DEFINITION  Homo sapiens chloride intracellular channel 6 (CLIC6), transcript
            variant 2, mRNA.
ACCESSION   NM_053277
VERSION     NM_053277.3
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 4197)
  AUTHORS   Loyo-Celis,V., Patel,D., Sanghvi,S., Kaur,K., Ponnalagu,D.,
            Zheng,Y., Bindra,S., Bhachu,H.R., Deschenes,I., Gururaja Rao,S. and
            Singh,H.
  TITLE     Biophysical characterization of chloride intracellular channel 6
            (CLIC6)
  JOURNAL   J Biol Chem 299 (11), 105349 (2023)
   PUBMED   37838179
REFERENCE   2  (bases 1 to 4197)
  AUTHORS   Skeie,J.M. and Mahajan,V.B.
  TITLE     Proteomic landscape of the human choroid-retinal pigment epithelial
            complex
  JOURNAL   JAMA Ophthalmol 132 (11), 1271-1281 (2014)
   PUBMED   25058583
REFERENCE   3  (bases 1 to 4197)
  AUTHORS   Yan,J., Takahashi,T., Ohura,T., Adachi,H., Takahashi,I., Ogawa,E.,
            Okuda,H., Kobayashi,H., Hitomi,T., Liu,W., Harada,K.H. and
            Koizumi,A.
  TITLE     Combined linkage analysis and exome sequencing identifies novel
            genes for familial goiter
  JOURNAL   J Hum Genet 58 (6), 366-377 (2013)
   PUBMED   23535966
REFERENCE   4  (bases 1 to 4197)
  AUTHORS   Lindstrand,A., Malmgren,H., Sahlen,S., Schoumans,J., Nordgren,A.,
            Ergander,U., Holm,E., Anderlid,B.M. and Blennow,E.
  TITLE     Detailed molecular and clinical characterization of three patients
            with 21q deletions
  JOURNAL   Clin Genet 77 (2), 145-154 (2010)
   PUBMED   19863549
REFERENCE   5  (bases 1 to 4197)
  AUTHORS   Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J.,
            Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M.,
            Ferrucci,L. and Kim,S.K.
  TITLE     Sequential use of transcriptional profiling, expression
            quantitative trait mapping, and gene association implicates MMP20
            in human kidney aging
  JOURNAL   PLoS Genet 5 (10), e1000685 (2009)
   PUBMED   19834535
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4197)
  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   7  (bases 1 to 4197)
  AUTHORS   Friedli,M., Guipponi,M., Bertrand,S., Bertrand,D.,
            Neerman-Arbez,M., Scott,H.S., Antonarakis,S.E. and Reymond,A.
  TITLE     Identification of a novel member of the CLIC family, CLIC6, mapping
            to 21q22.12
  JOURNAL   Gene 320, 31-40 (2003)
   PUBMED   14597386
REFERENCE   8  (bases 1 to 4197)
  AUTHORS   Strippoli,P., D'Addabbo,P., Lenzi,L., Giannone,S., Canaider,S.,
            Casadei,R., Vitale,L., Carinci,P. and Zannotti,M.
  TITLE     Segmental paralogy in the human genome: a large-scale triplication
            on 1p, 6p, and 21q
  JOURNAL   Mamm Genome 13 (8), 456-462 (2002)
   PUBMED   12226712
REFERENCE   9  (bases 1 to 4197)
  AUTHORS   Scanlan,M.J., Gout,I., Gordon,C.M., Williamson,B., Stockert,E.,
            Gure,A.O., Jager,D., Chen,Y.T., Mackay,A., O'Hare,M.J. and Old,L.J.
  TITLE     Humoral immunity to human breast cancer: antigen definition and
            quantitative analysis of mRNA expression
  JOURNAL   Cancer Immun 1, 4 (2001)
   PUBMED   12747765
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000330.3, AK289663.1,
            AF448438.1, BC040196.2 and CA442589.1.
            
            On Jun 2, 2019 this sequence version replaced NM_053277.2.
            
            Summary: This gene encodes a member of the chloride intracellular
            channel family of proteins. The gene is part of a large triplicated
            region found on chromosomes 1, 6, and 21. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (2) lacks an in-frame exon in the
            5' coding region compared to variant 1. The encoded isoform (2) is
            shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC040196.2, AF448438.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000349499.3/
                                                  ENSP00000290332.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-169               AP000330.3         6531-6699
            170-395             AK289663.1         1-226
            396-2493            AF448438.1         1-2098
            2494-2712           BC040196.2         1265-1483
            2713-4195           AF448438.1         2318-3800
            4196-4197           CA442589.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..4197
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.12"
     gene            1..4197
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /note="chloride intracellular channel 6"
                     /db_xref="GeneID:54102"
                     /db_xref="HGNC:HGNC:2065"
                     /db_xref="MIM:615321"
     exon            1..1769
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             396..2456
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /note="isoform 2 is encoded by transcript variant 2;
                     chloride channel form A; chloride intracellular channel
                     protein 6; parchorin; glutaredoxin-like oxidoreductase
                     CLIC6"
                     /codon_start=1
                     /product="chloride intracellular channel protein 6 isoform
                     2"
                     /protein_id="NP_444507.1"
                     /db_xref="CCDS:CCDS13638.1"
                     /db_xref="GeneID:54102"
                     /db_xref="HGNC:HGNC:2065"
                     /db_xref="MIM:615321"
                     /translation="MAEAAEPEGVAPGPQGPPEVPAPLAERPGEPGAAGGEAEGPEGS
                     EGAEEAPRGAAAVKEAGGGGPDRGPEAEARGTRGAHGETEAEEGAPEGAEVPQGGEET
                     SGAQQVEGASPGRGAQGEPRGEAQREPEDSAAPERQEEAEQRPEVPEGSASGEAGDSV
                     DAEGPLGDNIEAEGPAGDSVEAEGRVGDSVDAEGPAGDSVDAEGPLGDNIQAEGPAGD
                     SVDAEGRVGDSVDAEGPAGDSVDAEGRVGDSVEAGDPAGDGVEAGVPAGDSVEAEGPA
                     GDSMDAEGPAGRARRVSGEPQQSGDGSLSPQAEAIEVAAGESAGRSPGELAWDAAEEA
                     EVPGVKGSEEAAPGDARADAGEDRVGDGPQQEPGEDEERRERSPEGPREEEAAGGEEE
                     SPDSSPHGEASRGAAEPEAQLSNHLAEEGPAEGSGEAARVNGRREDGEASEPRALGQE
                     HDITLFVKAGYDGESIGNCPFSQRLFMILWLKGVIFNVTTVDLKRKPADLQNLAPGTN
                     PPFMTFDGEVKTDVNKIEEFLEEKLAPPRYPKLGTQHPESNSAGNDVFAKFSAFIKNT
                     KKDANEIHEKNLLKALRKLDNYLNSPLPDEIDAYSTEDVTVSGRKFLDGDELTLADCN
                     LLPKLHIIKIVAKKYRDFEFPSEMTGIWRYLNNAYARDEFTNTCPADQEIEHAYSDVA
                     KRMK"
     exon            1770..1879
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..2005
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2112
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..2294
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     exon            2295..4197
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4177..4182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /note="hexamer: TATAAA"
     polyA_site      4197
                     /gene="CLIC6"
                     /gene_synonym="CLIC1L"
                     /note="major polyA site"
ORIGIN      
        1 aaccccagga cagcggacag cgggccgggc acttccaaag gcgcaggagc gaagcagccc
       61 tctccagccg tgcactgcac ctccgcggcc cgcgggcgag attggggtcc cggtgggaag
      121 cagacgcgca atcggggaga agctccagca gtggaggaag agtccaggga gtttcagctg
      181 ggcagaaggg gcgcagaggc ttggggccaa gcggagtttg ccctgcgggt cctgcgcaag
      241 gccccagtgc cccggctaaa cctttgccgc aggatcccgg agccggcgtc cttcaaggag
      301 cacagagggc cccgtagcac gccccttgcc cagcgccacc gacccttaag cagcgtcaag
      361 gaaggagtcc cgatcaagga cagggatctg cggccatggc cgaggccgcg gagccggagg
      421 gggttgcccc gggtccccag gggccgccgg aggtccccgc gcctctggct gagagacccg
      481 gagagccagg agccgcgggc ggggaggcag aagggccgga ggggagcgag ggcgcagagg
      541 aggcgccgag gggcgccgcc gctgtgaagg aggcaggagg cggcgggcca gacaggggcc
      601 cggaggccga ggcgcggggc acgagggggg cgcacggcga gactgaggcc gaggagggag
      661 ccccggaggg tgccgaggtg ccccaaggag gggaggagac aagcggcgcg cagcaggtgg
      721 agggggcgag cccgggacgc ggcgcgcagg gcgagccccg cggggaggct cagagggagc
      781 ccgaggactc tgcggccccc gagaggcagg aggaggcgga gcagaggcct gaggtcccgg
      841 aaggtagcgc gtccggggag gcgggggaca gcgtagacgc ggagggcccg ctgggggaca
      901 acatagaagc ggagggcccg gcgggcgaca gcgtagaggc ggagggccgg gtgggggaca
      961 gcgtagacgc ggaaggtccg gcgggggaca gcgtagacgc ggagggcccg ctgggggaca
     1021 acatacaagc cgagggcccg gcgggggaca gcgtagacgc ggagggccgg gtgggggaca
     1081 gcgtagacgc ggaaggtccg gcgggggaca gcgtagacgc ggagggccgg gtgggggaca
     1141 gcgtagaggc gggggacccg gcgggggacg gcgtagaagc gggggtcccg gcgggggaca
     1201 gcgtagaagc cgaaggcccg gcgggggaca gcatggacgc cgagggtccg gcaggaaggg
     1261 cgcgccgggt ctcgggtgag ccgcagcaat cgggggacgg cagcctctcg ccccaggccg
     1321 aggcaattga ggtcgcagcc ggggagagtg cggggcgcag ccccggtgag ctcgcctggg
     1381 acgcagcgga ggaggcggag gtcccggggg taaaggggtc cgaagaagcg gcccccgggg
     1441 acgcaagggc agacgctggc gaggacaggg taggggatgg gccacagcag gagccggggg
     1501 aggacgaaga gagacgagag cggagcccgg aggggccaag ggaggaggaa gcagcggggg
     1561 gcgaagagga atcccccgac agcagcccac atggggaggc ctccaggggc gccgcggagc
     1621 ctgaggccca gctcagcaac cacctggccg aggagggccc cgccgagggt agcggcgagg
     1681 ccgcgcgcgt gaacggccgc cgggaggacg gagaggcgtc cgagccccgg gccctggggc
     1741 aggagcacga catcaccctc ttcgtcaagg ctggttatga tggtgagagt atcggaaatt
     1801 gcccgttttc tcagcgtctc tttatgattc tctggctgaa aggcgttata tttaatgtga
     1861 ccacagtgga cctgaaaagg aaacccgcag acctgcagaa cctggctccc ggaacaaacc
     1921 ctcctttcat gacttttgat ggtgaagtca agacggatgt gaataagatc gaggagttct
     1981 tagaggagaa attagctccc ccgaggtatc ccaagctggg gacccaacat cccgaatcta
     2041 attccgcagg aaatgacgtg tttgccaaat tctcagcgtt tataaaaaac acgaagaagg
     2101 atgcaaatga gattcatgaa aagaacctgc tgaaggccct gaggaagctg gataattact
     2161 taaatagccc tctgcctgat gaaatagatg cctacagcac cgaggatgtc actgtttctg
     2221 gaaggaagtt tctggatggg gacgagctga cgctggctga ctgcaacctc ttacccaagc
     2281 tccatattat taagattgtg gccaagaagt acagagattt tgaatttcct tctgaaatga
     2341 ctggcatctg gagatacttg aataatgctt atgctagaga tgagttcaca aatacgtgtc
     2401 cagctgatca agagattgaa cacgcatatt cagatgttgc aaaaagaatg aaatgaagct
     2461 gggctgtttt ctgtcttatt tctcagttga gtgagcaagg atacgaaaac agtgtgtttg
     2521 aaaacaaatt aggtttgggt tcaattcctt caatttttaa aaaactggtc tctgagagtt
     2581 ttttaaatca ttgagagcct gtttttcttc tctaaaacat tagtttaatt ttcttcaaaa
     2641 tgaaaatact gctttgtaat tacaaaatga gacacaccta tcttgatatt ttaaagcaat
     2701 atcagagggt gtaaagaagg acattttaac aatcgccttc aattttactc cacttaatta
     2761 ccgaaaactt actggagaac atgttccaaa tcttcagtat cttgttctct ctctctctct
     2821 ctctctctct ctctatcaca cacacacaca cacacacaca cacacacaca cacaatttca
     2881 ttcatatatg gtattgcatt attttatttt aaagcactgg tgaggggacc tcttggtgat
     2941 tcctggatga tcatacacag aggacttaca ccatacaaaa atattgggca ccgcagtgcc
     3001 agagaagatg cttgaggtta gattttaagg agtggggaat tgtgaagccc acagatgcgc
     3061 acgcaatgac cagcaggaac cggaagccct gggtcacccc cactctgcct catttctgcc
     3121 tccaggatgc cactgcctct gcttccagga aaggcaaggg ggagggtgct tatccgtgtc
     3181 tctggttcca gcttcctgtc tttgctccct cccctctctt agagactgtg ccttcagcag
     3241 gactcttaat atctgctgca acttggagaa cctccctgcc ctgaaatgtg aaccaagcac
     3301 actttggttc cttctccggg cggctctctc tgagacccaa ggctgcagtc cctcagtgct
     3361 ggtggtatcg tgtggggata gcaatacttc tctgcccttc attgtctcat ctagacatca
     3421 agcagggaaa atccagggag attaaattca tggtgacaag tcctgggcag ttctggtaaa
     3481 cggtccagtt agggagggag tagaaactat tgactcaaaa gagtttctgg ctgatctgtg
     3541 gctttgcctc caccatccct aaccaacctc tcatcacagc tttgtgtgtg ggctgagtgc
     3601 tggccttaac cctaggcgtg gaagagaaaa tgtgaggttg tttagatact catcaggacc
     3661 tcacaggagc tgagacttat cagccagaat gtgttcttcg gacagtcgta cacatcttac
     3721 agaaaaccct ccttgtagag ttggttgtgg tatgtgtttg atgctataaa gctcattttt
     3781 aatgtgtaca cctgctctag ggacgattcg tttgaaagag agtaagatgc attaacagaa
     3841 actatcctgg gattaggtga aaaatgtcta gcaaaagaaa caaagtcttt aatagagtgg
     3901 cctctttcgc tcttcgatta tgactgctgc agttttaccc cagcagtcag ctgtctttgt
     3961 caaccatacg tttttggaga ttgggtctag cacatgtcac ccttgtccac gttgtttcac
     4021 atctggttag ggggcagatt ttaaaatgta gttttgtaat gttacattta agcatgataa
     4081 atgattagac taccagatgt tactagtgct aactttgtat tcttagacat taaaatgatt
     4141 gacataaact ctttgtgcct tgaaaatgaa acaaattata aaaatgttta aatggaa
//
