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    SLC4A11 solute carrier family 4 member 11 [ Homo sapiens (human) ]

    Gene ID: 83959, updated on 8-Aug-2016
    Official Symbol
    SLC4A11provided by HGNC
    Official Full Name
    solute carrier family 4 member 11provided by HGNC
    Primary source
    HGNC:HGNC:16438
    See related
    Ensembl:ENSG00000088836 HPRD:15392; MIM:610206; Vega:OTTHUMG00000031740
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2
    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]
    Orthologs
    Location:
    20p12
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (3227417..3241483, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (3208063..3222109, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985414 Neighboring gene DDRGK domain containing 1 Neighboring gene inosine triphosphatase Neighboring gene chromosome 20 open reading frame 194 Neighboring gene ubiquitin conjugating enzyme E2 F (putative) pseudogene Neighboring gene RNA, U6 small nuclear 1019, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Clone Names

    • MGC126418, MGC126419

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    anion:anion antiporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    bicarbonate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    borate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hydrogen ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inorganic anion exchanger activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein dimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bicarbonate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    borate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    borate transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular cation homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fluid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    proton transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    basolateral plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    sodium bicarbonate transporter-like protein 11
    Names
    bicarbonate transporter related protein 1
    sodium-coupled borate cotransporter 1
    solute carrier family 4, sodium bicarbonate transporter-like, member 11
    solute carrier family 4, sodium borate transporter, member 11

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017072.1 RefSeqGene

      Range
      5001..16825
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174089.1NP_001167560.1  sodium bicarbonate transporter-like protein 11 isoform 3

      See identical proteins and their annotated locations for NP_001167560.1

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AF336127, AK296760, CA312226, DC341640
      Consensus CDS
      CCDS54446.1
      UniProtKB/Swiss-Prot
      Q8NBS3
      Related
      ENSP00000441370, OTTHUMP00000030098, ENST00000539553, OTTHUMT00000077729
      Conserved Domains (2) summary
      pfam00955
      Location:325817
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:213282
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    2. NM_001174090.1NP_001167561.1  sodium bicarbonate transporter-like protein 11 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF336127, AK296508, CA312226
      Consensus CDS
      CCDS54445.1
      UniProtKB/Swiss-Prot
      Q8NBS3
      Related
      ENSP00000369399, OTTHUMP00000030096, ENST00000380059, OTTHUMT00000077727
      Conserved Domains (2) summary
      pfam00955
      Location:369860
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:246325
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    3. NM_032034.3NP_114423.1  sodium bicarbonate transporter-like protein 11 isoform 2

      See identical proteins and their annotated locations for NP_114423.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. The resulting protein (isoform 2) has a distinct N-terminus and is shorter compared to isoform 1.
      Source sequence(s)
      AF336127, CA312226
      Consensus CDS
      CCDS13052.1
      UniProtKB/Swiss-Prot
      Q8NBS3
      Related
      ENSP00000369396, OTTHUMP00000030097, ENST00000380056, OTTHUMT00000077728
      Conserved Domains (2) summary
      pfam00955
      Location:342833
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:219298
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...

    RNA

    1. NR_135000.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate 5' terminal exon and uses an alternate internal splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF336127, AK091157, AK296508, DA630556, HY211104
      Related
      ENST00000474451, OTTHUMT00000077732

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      3227417..3241483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529383.2XP_011527685.1  

      Conserved Domains (2) summary
      pfam00955
      Location:314806
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:202271
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    2. XM_011529384.1XP_011527686.1  

      See identical proteins and their annotated locations for XP_011527686.1

      Conserved Domains (2) summary
      pfam00955
      Location:306798
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:194263
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    3. XM_017028095.1XP_016883584.1  

    4. XM_017028096.1XP_016883585.1  

    5. XM_011529385.1XP_011527687.1  

      See identical proteins and their annotated locations for XP_011527687.1

      Conserved Domains (2) summary
      pfam00955
      Location:306798
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:194263
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    6. XM_017028094.1XP_016883583.1  

    7. XM_005260857.1XP_005260914.1  

      See identical proteins and their annotated locations for XP_005260914.1

      Conserved Domains (2) summary
      pfam00955
      Location:306798
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:194263
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    8. XM_005260856.4XP_005260913.1  

      Conserved Domains (2) summary
      pfam00955
      Location:486940
      HCO3_cotransp; HCO3- transporter family
      cl00163
      Location:374443
      PTS_IIA_fru; PTS_IIA, PTS system, fructose/mannitol specific IIA subunit. The bacterial phosphoenolpyruvate: sugar phosphotransferase system (PTS) is a multi-protein system involved in the regulation of a variety of metabolic and transcriptional processes. This ...
    9. XM_017028093.1XP_016883582.1  

    10. XM_017028097.1XP_016883586.1  

    RNA

    1. XR_001754419.1 RNA Sequence

    2. XR_001754420.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      3208125..3219949 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)