LOCUS       NM_012064               2614 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.
ACCESSION   NM_012064
VERSION     NM_012064.4
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 2614)
  AUTHORS   Yu,Y., Qiao,Y., Ye,Y., Luo,C. and Yao,K.
  TITLE     A novel single-base deletional mutation of MIP impairs protein
            distribution and cell-to-cell adhesion in autosomal dominant
            cataracts in a Chinese family
  JOURNAL   Am J Med Genet A 194 (5), e63504 (2024)
   PUBMED   38153133
  REMARK    GeneRIF: A novel single-base deletional mutation of MIP impairs
            protein distribution and cell-to-cell adhesion in autosomal
            dominant cataracts in a Chinese family.
REFERENCE   2  (bases 1 to 2614)
  AUTHORS   Amro,Z., Collins-Praino,L.E. and Yool,A.J.
  TITLE     Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte
            and neuronal cell lines in response to oxidative and inflammatory
            stressors
  JOURNAL   Biosci Rep 44 (3) (2024)
   PUBMED   38451099
  REMARK    GeneRIF: Protective roles of peroxiporins AQP0 and AQP11 in human
            astrocyte and neuronal cell lines in response to oxidative and
            inflammatory stressors.
REFERENCE   3  (bases 1 to 2614)
  AUTHORS   Kreida,S., Roche,J.V., Missel,J.W., Al-Jubair,T., Hagstromer,C.J.,
            Wittenbecher,V., Linse,S., Gourdon,P. and Tornroth-Horsefield,S.
  TITLE     The role of phosphorylation in calmodulin-mediated gating of human
            AQP0
  JOURNAL   Biochem J 481 (1), 17-32 (2024)
   PUBMED   38032258
  REMARK    GeneRIF: The role of phosphorylation in calmodulin-mediated gating
            of human AQP0.
REFERENCE   4  (bases 1 to 2614)
  AUTHORS   Santorini,M., Chesneau,B., Koskas-Boublil,P., Metge,F., Caputo,G.,
            Chassaing,N., Martin,G. and Plaisancie,J.
  TITLE     First implication of MIP in bilateral microphthalmia with
            persistent fetal vasculature
  JOURNAL   Am J Med Genet A 191 (5), 1373-1377 (2023)
   PUBMED   36734406
  REMARK    GeneRIF: First implication of MIP in bilateral microphthalmia with
            persistent fetal vasculature.
REFERENCE   5  (bases 1 to 2614)
  AUTHORS   Cheng,Z., Wang,X., Wang,Q., Zhang,X., Wang,D., Huang,W., Dongye,M.,
            Feng,X., Zheng,D. and Lin,H.
  TITLE     Anterior Umbilication of Lens in a Family with Congenital Cataracts
            Associated with a Missense Mutation of MIP Gene
  JOURNAL   Genes (Basel) 13 (11), 1987 (2022)
   PUBMED   36360224
  REMARK    GeneRIF: Anterior Umbilication of Lens in a Family with Congenital
            Cataracts Associated with a Missense Mutation of MIP Gene.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2614)
  AUTHORS   Zeidel,M.L., Ambudkar,S.V., Smith,B.L. and Agre,P.
  TITLE     Reconstitution of functional water channels in liposomes containing
            purified red cell CHIP28 protein
  JOURNAL   Biochemistry 31 (33), 7436-7440 (1992)
   PUBMED   1510932
REFERENCE   7  (bases 1 to 2614)
  AUTHORS   Preston,G.M., Carroll,T.P., Guggino,W.B. and Agre,P.
  TITLE     Appearance of water channels in Xenopus oocytes expressing red cell
            CHIP28 protein
  JOURNAL   Science 256 (5055), 385-387 (1992)
   PUBMED   1373524
REFERENCE   8  (bases 1 to 2614)
  AUTHORS   Griffin,C.S. and Shiels,A.
  TITLE     In situ hybridisation localises the gene for the major intrinsic
            protein of eye lens fibre cell membranes to human chromosome 12q14
  JOURNAL   Cytogenet Cell Genet 61 (1), 8-9 (1992)
   PUBMED   1505237
REFERENCE   9  (bases 1 to 2614)
  AUTHORS   Pisano,M.M. and Chepelinsky,A.B.
  TITLE     Genomic cloning, complete nucleotide sequence, and structure of the
            human gene encoding the major intrinsic protein (MIP) of the lens
  JOURNAL   Genomics 11 (4), 981-990 (1991)
   PUBMED   1840563
REFERENCE   10 (bases 1 to 2614)
  AUTHORS   Girsch,S.J. and Peracchia,C.
  TITLE     Calmodulin interacts with a C-terminus peptide from the lens
            membrane protein MIP26
  JOURNAL   Curr Eye Res 10 (9), 839-849 (1991)
   PUBMED   1790714
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC024884.31 and BC117474.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 9, 2018 this sequence version replaced NM_012064.3.
            
            Summary: Major intrinsic protein is a member of the
            water-transporting aquaporins as well as the original member of the
            MIP family of channel proteins. The function of the fiber cell
            membrane protein encoded by this gene is undetermined, yet this
            protein is speculated to play a role in intracellular
            communication. The MIP protein is expressed in the ocular lens and
            is required for correct lens function. This gene has been mapped
            among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster
            at 12q13. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC117474.1, KT966395.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000652304.1/ ENSP00000498622.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AC024884.31        12592-12597
            7-929               BC117474.1         1-923
            930-2614            AC024884.31        16063-17747
FEATURES             Location/Qualifiers
     source          1..2614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..2614
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /note="major intrinsic protein of lens fiber"
                     /db_xref="GeneID:4284"
                     /db_xref="HGNC:HGNC:7103"
                     /db_xref="MIM:154050"
     exon            1..404
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..836
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /EC_number="1.11.1.6"
                     /note="aquaporin 0"
                     /codon_start=1
                     /product="lens fiber major intrinsic protein"
                     /protein_id="NP_036196.1"
                     /db_xref="CCDS:CCDS8919.1"
                     /db_xref="GeneID:4284"
                     /db_xref="HGNC:HGNC:7103"
                     /db_xref="MIM:154050"
                     /translation="MWELRSASFWRAIFAEFFATLFYVFFGLGSSLRWAPGPLHVLQV
                     AMAFGLALATLVQSVGHISGAHVNPAVTFAFLVGSQMSLLRAFCYMAAQLLGAVAGAA
                     VLYSVTPPAVRGNLALNTLHPAVSVGQATTVEIFLTLQFVLCIFATYDERRNGQLGSV
                     ALAVGFSLALGHLFGMYYTGAGMNPARSFAPAILTGNFTNHWVYWVGPIIGGGLGSLL
                     YDFLLFPRLKSISERLSVLKGAKPDVSNGQPEVTGEPVELNTQAL"
     exon            405..569
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /inference="alignment:Splign:2.1.0"
     exon            570..650
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /inference="alignment:Splign:2.1.0"
     exon            651..2614
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2433..2438
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /note="hexamer: AATAAA"
     polyA_site      2457
                     /gene="MIP"
                     /gene_synonym="AQP0; CTRCT15; LIM1; MIP26; MP26"
                     /note="major polyA site"
ORIGIN      
        1 atgggggtag cagggaccca ggcactgtga ccatcccccc tgccatgtgg gaactgcgat
       61 cagcctcctt ttggagggcc atattcgctg agttctttgc caccctcttc tatgtcttct
      121 ttgggctggg gtcctcactg cgctgggctc ctggacccct gcatgttctg caggtggcta
      181 tggcatttgg cttggccctg gctacactgg tgcagtctgt gggccacatc agtggagccc
      241 acgtcaatcc tgcagtcact tttgctttcc ttgtgggctc ccagatgtcc ctgctccgtg
      301 ccttctgcta tatggcagcc cagctcctgg gagctgtggc tggggccgct gtgctgtata
      361 gcgttacccc acctgctgtc cgaggaaacc tagcactcaa cacgttgcac cctgcggtga
      421 gcgtgggcca ggcaaccaca gtggagatct tcctgacgct ccagttcgtg ctctgcatct
      481 ttgccacata cgacgagagg cggaatggcc aactgggctc cgtggccctg gccgttggct
      541 tctcccttgc cctggggcac ctctttggga tgtattatac tggtgcaggc atgaatcctg
      601 cccgctcctt tgctcctgcc attctcactg ggaacttcac taaccactgg gtgtactggg
      661 taggcccaat cattggaggg ggtctgggca gcctcctgta cgactttctt ctcttccccc
      721 ggctcaagag tatttctgag agactgtctg tcctcaaggg tgccaaaccc gatgtctcca
      781 atggacaacc agaggtcaca ggggaacctg ttgaactgaa cacccaggcc ctgtagaagc
      841 tccagctgaa tagagggagt agaaagcttc tgagtttacg tggaggggtt tagccagccc
      901 ctagatgaag aaagagactg tggggagggt catgtacttc tttatttttt aacttatgta
      961 tgtggttgtt tttttttttt ttttcctttt gctgtgtgaa atctttcaag ttgcattcat
     1021 gagctggttg gtgcaaactt cccttcctcc ccatcccacc acccttcgcc gtgtgtgctg
     1081 attgtgcata tgaatgtgag tgtggctgtg tctgagtttt ggggcatgag agctaaggaa
     1141 gcaaaaagag gtgccatcct atacctccct tcctcgaccc agtatggtga gtactgggta
     1201 accgacacct taagtttctg gcctttaccc tgctgccagt caagtgtgtg gctcttgatt
     1261 tctgagggaa cagagaagca gggagttact cctcacacga ggcagatgga gagaagtgga
     1321 ggagacaagg cttccaaggg ttaggagaag ggactcaagg gaggtgggtg gtgaaaacgg
     1381 agtattagcc ccagatcagg atgtaggtgt accgaagaat tggggggaag ttaatgggaa
     1441 tatatagcct acttatctta gggatgcttg ccccagggac ttgggtgggg aagtagctct
     1501 gagaaaagtg aacactagga tttagctgtt ctgtaaagcc acgtaaacct gtctacatcc
     1561 gctggctggt tgtgttcatt ctgacataat ggatctcttc agaggtcctg ggccaaagag
     1621 cttccaacct aaatagagct tgggcaagcc tagaatctag aaaaattaag cagcttaact
     1681 ggtcagcctg acatccactg ttgtggctgc ctggcagatg gtatttaagc cccacaattg
     1741 ttccctaagg ccaacacagg aaatctgatt cctggagcaa ataaatgaac gggtggtagt
     1801 agggggcatg aggggagagg ctttgactct gttctaattt atttagagca aatcaaaaca
     1861 ctcctcaaat ggcatctttc tgcttttatc actagttccg tgtttttttt cttgttttgt
     1921 gtctgtgtat tttcatttct ctgtcatccg tcctttcatc ttgaagcaaa tctcttctaa
     1981 ctccctcata ccccagaaat tgattccttc tattcaaatg cttaataatt caggagatta
     2041 ttatttgttt gagccctatc ttcttttttt ttttgagagg gggtcttact atgttgacca
     2101 ggttggagtg caatggatat tcacaggcac gatcatcgca cactacagtc tagaaatcct
     2161 gggctcaagc gatcttcctg cttcagcctc cccagtagct gggattacag ggggccagag
     2221 cacagcccta ttttcttttc cttttggcaa gatcatctca gcagaggcca gaagagaccc
     2281 tcaactgttc aatgaatatt tacggttgct ttcttccttt tatgagcctc ttgcatactt
     2341 tgaaagcttt aaatttatac ctataataca acggacatcc cctatcccag aagaccattc
     2401 ctccctgtac ttcagctctt tacttcctcc caaataaaac ctaacttttc taactaacta
     2461 tttaagactt ggaatagtcc gcttgactag aagaagggga agaatgtttg taaattcacc
     2521 tctaatcgga ctttgattct actataattc agcagaaaat tcatagcgct gtgattttta
     2581 gatcgacctc acataaaaca gtccctgcac tcgc
//
