LOCUS       NM_001174089            3046 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens solute carrier family 4 member 11 (SLC4A11),
            transcript variant 3, mRNA.
ACCESSION   NM_001174089
VERSION     NM_001174089.2
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 3046)
  AUTHORS   Chung,D.D., Chen,A.C., Choo,C.H., Zhang,W., Williams,D.,
            Griffis,C.G., Bonezzi,P., Jatavallabhula,K., Sampath,A.P. and
            Aldave,A.J.
  TITLE     Investigation of the functional impact of CHED- and
            FECD4-associated SLC4A11 mutations in human corneal endothelial
            cells
  JOURNAL   PLoS One 19 (1), e0296928 (2024)
   PUBMED   38252645
  REMARK    GeneRIF: Investigation of the functional impact of CHED- and
            FECD4-associated SLC4A11 mutations in human corneal endothelial
            cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3046)
  AUTHORS   Lu,Y., Zuo,P., Chen,H., Shan,H., Wang,W., Dai,Z., Xu,H., Chen,Y.,
            Liang,L., Ding,D., Jin,Y. and Yin,Y.
  TITLE     Structural insights into the conformational changes of BTR1/SLC4A11
            in complex with PIP2
  JOURNAL   Nat Commun 14 (1), 6157 (2023)
   PUBMED   37788993
  REMARK    GeneRIF: Structural insights into the conformational changes of
            BTR1/SLC4A11 in complex with PIP2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3046)
  AUTHORS   Zhen,T., Li,Y., Guo,Q., Yao,S., You,Y. and Lei,B.
  TITLE     Pathogenicity and Function Analysis of Two Novel SLC4A11 Variants
            in Patients With Congenital Hereditary Endothelial Dystrophy
  JOURNAL   Transl Vis Sci Technol 12 (10), 1 (2023)
   PUBMED   37787991
  REMARK    GeneRIF: Pathogenicity and Function Analysis of Two Novel SLC4A11
            Variants in Patients With Congenital Hereditary Endothelial
            Dystrophy.
REFERENCE   4  (bases 1 to 3046)
  AUTHORS   Salman,M., Verma,A., Chaurasia,S., Prasad,D., Kannabiran,C.,
            Singh,V. and Ramappa,M.
  TITLE     Identification and in silico analysis of a spectrum of SLC4A11
            variations in Indian familial and sporadic cases of congenital
            hereditary endothelial dystrophy
  JOURNAL   Orphanet J Rare Dis 17 (1), 361 (2022)
   PUBMED   36115991
  REMARK    GeneRIF: Identification and in silico analysis of a spectrum of
            SLC4A11 variations in Indian familial and sporadic cases of
            congenital hereditary endothelial dystrophy.
            Erratum:[Orphanet J Rare Dis. 2023 Jun 29;18(1):170. doi:
            10.1186/s13023-023-02791-6.. PMID: 37386499]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3046)
  AUTHORS   Iqbal,A., Naz,S., Kaul,H., Sharif,S., Khushbakht,A., Naeem,M.A.,
            Iqtedar,M., Kaleem,A., Firasat,S. and Manzoor,F.
  TITLE     Mutational analysis in sodium-borate cotransporter SLC4A11 in
            consanguineous families from Punjab, Pakistan
  JOURNAL   PLoS One 17 (8), e0273685 (2022)
   PUBMED   36037197
  REMARK    GeneRIF: Mutational analysis in sodium-borate cotransporter SLC4A11
            in consanguineous families from Punjab, Pakistan.
            Erratum:[PLoS One. 2023 Oct 26;18(10):e0293769. doi:
            10.1371/journal.pone.0293769.. PMID: 37883379]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3046)
  AUTHORS   Moroi,S.E., Gokhale,P.A., Schteingart,M.T., Sugar,A., Downs,C.A.,
            Shimizu,S., Krafchak,C., Fuse,N., Elner,S.G., Elner,V.M., Flint,A.,
            Epstein,M.P., Boehnke,M. and Richards,J.E.
  TITLE     Clinicopathologic correlation and genetic analysis in a case of
            posterior polymorphous corneal dystrophy
  JOURNAL   Am J Ophthalmol 135 (4), 461-470 (2003)
   PUBMED   12654361
  REMARK    GeneRIF: congenital hereditary endothelial dystrophy 1 (CHED1) and
            CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2
            (COL8A2) gene were excluded by linkage and haplotype analyses.
REFERENCE   7  (bases 1 to 3046)
  AUTHORS   Abramowicz,M.J., Albuquerque-Silva,J. and Zanen,A.
  TITLE     Corneal dystrophy and perceptive deafness (Harboyan syndrome):
            CDPD1 maps to 20p13
  JOURNAL   J Med Genet 39 (2), 110-112 (2002)
   PUBMED   11836359
  REMARK    GeneRIF: The corneal dystrophy and perceptive deafness (Harboyan
            syndrome) gene (CDPD1) maps to chromosome 20p13.
REFERENCE   8  (bases 1 to 3046)
  AUTHORS   Parker,M.D., Ourmozdi,E.P. and Tanner,M.J.
  TITLE     Human BTR1, a new bicarbonate transporter superfamily member and
            human AE4 from kidney
  JOURNAL   Biochem Biophys Res Commun 282 (5), 1103-1109 (2001)
   PUBMED   11302728
REFERENCE   9  (bases 1 to 3046)
  AUTHORS   Hand,C.K., Harmon,D.L., Kennedy,S.M., FitzSimon,J.S., Collum,L.M.
            and Parfrey,N.A.
  TITLE     Localization of the gene for autosomal recessive congenital
            hereditary endothelial dystrophy (CHED2) to chromosome 20 by
            homozygosity mapping
  JOURNAL   Genomics 61 (1), 1-4 (1999)
   PUBMED   10512674
REFERENCE   10 (bases 1 to 3046)
  AUTHORS   Callaghan,M., Hand,C.K., Kennedy,S.M., FitzSimon,J.S., Collum,L.M.
            and Parfrey,N.A.
  TITLE     Homozygosity mapping and linkage analysis demonstrate that
            autosomal recessive congenital hereditary endothelial dystrophy
            (CHED) and autosomal dominant CHED are genetically distinct
  JOURNAL   Br J Ophthalmol 83 (1), 115-119 (1999)
   PUBMED   10209448
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC341640.1, AK296760.1,
            AF336127.1 and CA312226.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001174089.1.
            
            Summary: This gene encodes a voltage-regulated, electrogenic
            sodium-coupled borate cotransporter that is essential for borate
            homeostasis, cell growth and cell proliferation. Mutations in this
            gene have been associated with a number of endothelial corneal
            dystrophies including recessive corneal endothelial dystrophy 2,
            corneal dystrophy and perceptive deafness, and Fuchs endothelial
            corneal dystrophy. Multiple transcript variants encoding different
            isoforms have been described. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR and 5'
            coding region compared to variant 1. The resulting protein (isoform
            3) has a distinct N-terminus and is shorter compared to isoform 1.
            
            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 :: AK296760.1, SRR1803613.206619.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2159931
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000642402.1/ ENSP00000493503.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-96                DC341640.1         52-147
            97-643              AK296760.1         97-643
            644-3021            AF336127.1         687-3064
            3022-3044           CA312226.1         17-39               c
            3045-3046           AF336127.1         3088-3089
FEATURES             Location/Qualifiers
     source          1..3046
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..3046
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="solute carrier family 4 member 11"
                     /db_xref="GeneID:83959"
                     /db_xref="HGNC:HGNC:16438"
                     /db_xref="MIM:610206"
     exon            1..96
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..2681
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     solute carrier family 4, sodium bicarbonate
                     transporter-like, member 11; bicarbonate transporter
                     related protein 1; sodium-coupled borate cotransporter 1;
                     solute carrier family 4, sodium borate transporter, member
                     11"
                     /codon_start=1
                     /product="solute carrier family 4 member 11 isoform 3"
                     /protein_id="NP_001167560.1"
                     /db_xref="CCDS:CCDS54446.1"
                     /db_xref="GeneID:83959"
                     /db_xref="HGNC:HGNC:16438"
                     /db_xref="MIM:610206"
                     /translation="MAAATRRVFHLQPCENSPTMSQNGYFEDSSYYKCDTDDTFEARE
                     EILGDEAFDTANSSIVSGESIRFFVNVNLEMQATNTENEATSGGCVLLHTSRKYLKLK
                     NFKEEIRAHRDLDGFLAQASIVLNETATSLDNVLRTMLRRFARDPDNNEPNCNLDLLM
                     AMLFTDAGAPMRGKVHLLSDTIQGVTATVTGVRYQQSWLCIICTMKALQKRHVCISRL
                     VRPQNWGENSCEVRFVILVLAPPKMKSTKTAMEVARTFATMFSDIAFRQKLLETRTEE
                     EFKEALVHQRQLLTMVSHGPVAPRTKERSTVSLPAHRHPEPPKCKDFVPFGKGIREDI
                     ARRFPLYPLDFTDGIIGKNKAVGKYITTTLFLYFACLLPTIAFGSLNDENTDGAIDVQ
                     KTIAGQSIGGLLYALFSGQPLVILLTTAPLALYIQVIRVICDDYDLDFNSFYAWTGLW
                     NSFFLALYAFFNLSLVMSLFKRSTEEIIALFISITFVLDAVKGTVKIFWKYYYGHYLD
                     DYHTKRTSSLVSLSGLGASLNASLHTALNASFLASPTELPSATHSGQATAVLSLLIML
                     GTLWLGYTLYQFKKSPYLHPCVREILSDCALPIAVLAFSLISSHGFREIEMSKFRYNP
                     SESPFAMAQIQSLSLRAVSGAMGLGFLLSMLFFIEQNLVAALVNAPENRLVKGTAYHW
                     DLLLLAIINTGLSLFGLPWIHAAYPHSPLHVRALALVEERVENGHIYDTIVNVKETRL
                     TSLGASVLVGLSLLLLPVPLQWIPKPVLYGLFLYIALTSLDGNQLVQRVALLLKEQTA
                     YPPTHYIRRVPQRKIHYFTGLQVLQLLLLCAFGMSSLPYMKMIFPLIMIAMIPIRYIL
                     LPRIIEAKYLDVMDAEHRP"
     exon            97..141
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            142..294
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..344
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            345..576
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            577..658
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            659..782
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            783..1001
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1095
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1221
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1335
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1468
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1542
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1543..1795
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..1902
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1903..2071
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2072..2245
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2246..2441
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2442..2611
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     exon            2612..3046
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2951..2956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="hexamer: GATAAA"
     polyA_site      2979
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="major polyA site"
     regulatory      3025..3030
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="hexamer: AATAAA"
     polyA_site      3046
                     /gene="SLC4A11"
                     /gene_synonym="BTR1; CDPD1; CHED; CHED2; dJ794I6.2; NABC1"
                     /note="major polyA site"
ORIGIN      
        1 agaagcgccg gagcgccgcg tgaggagccc ggccgtgagt gcgcgagtgt gccatggccg
       61 cggccaccag gcgcgtgttc catctgcagc cgtgcgaaaa ctctcccacc atgtcgcaga
      121 atggatactt cgaggattca agctactaca agtgtgacac agatgacacc ttcgaagccc
      181 gagaggagat cctgggggat gaggccttcg acactgccaa ctcctccatc gtgtctggcg
      241 agagtatccg tttttttgtc aatgtcaacc ttgagatgca ggccaccaac actgagaatg
      301 aagcgacttc cggtggctgt gtgctcctgc acacctcccg aaagtacctg aagttaaaga
      361 acttcaagga agagatccgt gcgcaccgcg acctagatgg cttcctggcg caggccagca
      421 tcgtcctgaa cgagacggcc acctccctgg ataacgtgct gcggaccatg cttcgccgct
      481 tcgccaggga ccctgacaac aatgagccca actgcaacct ggacctgctc atggccatgc
      541 tcttcaccga tgccggggca cccatgcggg gtaaagtcca cctgctgtca gataccatcc
      601 aaggggtcac cgccacagtg acaggggtgc ggtaccagca gtcgtggctc tgcatcatct
      661 gtaccatgaa ggccctacag aagcggcacg tgtgcatcag ccgcctggtt cgcccacaga
      721 actgggggga gaattcctgt gaggttcggt tcgtcatcct ggtgctggcc ccacccaaga
      781 tgaaaagcac taagactgcg atggaggtgg cgcgcacgtt tgccaccatg ttctcggata
      841 tcgccttccg ccagaagctc ctggagaccc gcacagagga ggaattcaag gaggccttgg
      901 tgcatcagag acagctgctc accatggtga gccacggtcc agtggcgccg agaacgaagg
      961 aacgcagcac agtctccctc cctgcccaca gacacccaga gcccccaaag tgcaaggact
     1021 ttgtcccttt tgggaagggc atccgggagg acatcgcacg caggttcccc ttgtacccct
     1081 tggacttcac tgatggcatt attgggaaaa acaaggctgt gggcaaatac atcaccacca
     1141 ccctgttcct ctacttcgcc tgcctcctgc ccaccatcgc tttcgggtct ctcaatgacg
     1201 agaacacaga cggggccatc gacgtgcaga agaccatagc cgggcagagc atcgggggcc
     1261 tgctctacgc gctcttctct gggcagccat tggtgattct gctgaccacc gcgcccctgg
     1321 cgctctacat ccaggtgatt cgtgtcatct gtgatgacta tgacctggac ttcaactcct
     1381 tctacgcatg gacgggcctg tggaatagtt tcttccttgc gctttatgcc tttttcaacc
     1441 tcagcctggt catgagtctc ttcaagaggt cgacggagga gatcatcgcc ctcttcattt
     1501 ccatcacgtt tgtgctggat gccgtcaagg gcacggttaa aatcttctgg aagtactact
     1561 atgggcatta cttggacgac tatcacacaa aaaggacttc atcccttgtc agcctgtcag
     1621 gcctcggcgc cagcctcaac gccagcctcc acactgccct caacgccagc ttcctcgcca
     1681 gccccacgga gctgccctcg gccacacact caggccaggc gaccgccgtg ctcagcctcc
     1741 tcatcatgct gggcacgctc tggctgggct acaccctcta ccaattcaag aagagcccct
     1801 acctgcaccc ctgcgtgcga gagatcctgt ccgactgcgc cctgcccatc gcggtgctcg
     1861 ccttctccct catcagctcc catggcttcc gggaaatcga gatgagcaag ttccgctaca
     1921 accccagcga gagccccttt gcgatggcgc agatccagtc gctgtccctg agggccgtca
     1981 gcggtgccat gggcctcggc ttcctgctgt ccatgctctt cttcatcgag cagaacttgg
     2041 tggccgcctt ggtgaatgca ccggagaaca ggctggtgaa gggcactgcc taccactggg
     2101 acctcctgct cctcgccatc atcaacacag ggctgtctct gtttgggctg ccttggatcc
     2161 atgccgccta cccccactcc ccgctgcacg tgcgagccct ggccttagtg gaggagcgtg
     2221 tggagaacgg acacatctat gacacgattg tgaacgtgaa ggagacgcgg ctgacctcgc
     2281 tgggcgccag cgtcctggtg ggcctgtccc tgttgctgct gccggtcccg cttcagtgga
     2341 tccccaagcc cgtgctctat ggcctcttcc tctacatcgc gctcacctcc ctcgatggca
     2401 accagctcgt ccagcgcgtg gccctgctgc tcaaggagca gactgcgtac cccccgacac
     2461 actacatccg gagggtgccc cagaggaaga tccactactt cacgggcctg caggtgcttc
     2521 agctgctgct gctgtgtgcc ttcggcatga gctccctgcc ctacatgaag atgatctttc
     2581 ccctcatcat gatcgccatg atccccatcc gctatatcct gctgccccga atcattgaag
     2641 ccaagtactt ggatgtcatg gacgctgagc acaggccttg actggcagac cctgcccacg
     2701 ccccattcgc cagccctcca cgtcctccca ggctggctct ggagctgtga ggggaggtgt
     2761 aggtgtgtgg gtgactgctc tgtgctgcgc cttctcatgg ctgactcagg cctggggcat
     2821 ctgggcattg taggggtgca gtggtatgtg cccacccctc tcccattatc ctttagcttt
     2881 aggccaagag cgttgctcag ggcagcttct gcccagggtg ggtgggactg agcaggatgg
     2941 attttctttt gataaaagag tcgatgcctg aaagagaaac catttccttg attgtgtaag
     3001 gaacttgctg gacgcacatt agagaataaa gctcctgttt ctaggc
//
