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SLC4A11 solute carrier family 4, sodium borate transporter, member 11 [ Homo sapiens (human) ]

Gene ID: 83959, updated on 19-Jul-2014
Official Symbol
SLC4A11provided by HGNC
Official Full Name
solute carrier family 4, sodium borate transporter, member 11provided by HGNC
Primary source
HGNC:16438
Locus tag
RP4-794I6.3
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; 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]
See SLC4A11 in Epigenomics, MapViewer
Location:
20p12
Exon count:
22
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (3227417..3239241, 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 DDRGK domain containing 1 Neighboring gene inosine triphosphatase (nucleoside triphosphate pyrophosphatase) Neighboring gene chromosome 20 open reading frame 194 Neighboring gene ubiquitin-conjugating enzyme E2F (putative) pseudogene Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126418, MGC126419

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 
sodium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
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 membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
sodium bicarbonate transporter-like protein 11
Names
sodium bicarbonate transporter-like protein 11
sodium-coupled borate cotransporter 1
bicarbonate transporter related protein 1
solute carrier family 4, sodium bicarbonate transporter-like, 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 

    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 proteins identical to 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
    Blast Score: 746
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:213282
    Blast Score: 107
    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:368860
    Blast Score: 752
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:256325
    Blast Score: 108
    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 proteins identical to 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:341833
    Blast Score: 749
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:229298
    Blast Score: 107
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    3227417..3239241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260857.1XP_005260914.1  

    Conserved Domains (2) summary
    pfam00955
    Location:306798
    Blast Score: 745
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:194263
    Blast Score: 107
    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_005260856.2XP_005260913.1  

    Conserved Domains (2) summary
    pfam00955
    Location:486940
    Blast Score: 626
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:374443
    Blast Score: 110
    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. XR_430272.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    3156372..3168190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

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