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

Gene ID: 83959, updated on 4-Jun-2020

Summary

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 MIM:610206
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]
Expression
Biased expression in thyroid (RPKM 6.2), kidney (RPKM 5.1) and 12 other tissues See more
Orthologs

Genomic context

See SLC4A11 in Genome Data Viewer
Location:
20p13
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (3227417..3241484, 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • MGC126418, MGC126419

Gene Ontology Provided by GOA

Function Evidence Code Pubs
active borate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
anion:anion antiporter activity IEA
Inferred from Electronic Annotation
more info
 
bicarbonate transmembrane transporter 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 
proton channel 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 transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
basolateral plasma membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5052..16820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174089.2NP_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
    ENSP00000493503.1, ENST00000642402.1
    Conserved Domains (2) summary
    pfam00955
    Location:326817
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:203282
    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_001174090.2NP_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
    ENSP00000369399.3, ENST00000380059.7
    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_001363745.2NP_001350674.1  sodium bicarbonate transporter-like protein 11 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL109976
    Consensus CDS
    CCDS86932.1
    Related
    ENSP00000495050.1, ENST00000647296.1
    Conserved Domains (2) summary
    pfam00955
    Location:326779
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:203282
    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 ...
  4. NM_032034.4NP_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
    ENSP00000369396.3, ENST00000380056.7
    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
    ENST00000474451.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    3227417..3241484 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529383.3XP_011527685.1  sodium bicarbonate transporter-like protein 11 isoform X3

    Conserved Domains (2) summary
    pfam00955
    Location:315806
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:192271
    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  sodium bicarbonate transporter-like protein 11 isoform X4

    See identical proteins and their annotated locations for XP_011527686.1

    Conserved Domains (2) summary
    pfam00955
    Location:307798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184263
    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_017028096.1XP_016883585.1  sodium bicarbonate transporter-like protein 11 isoform X4

    Conserved Domains (2) summary
    pfam00955
    Location:307798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184263
    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 ...
  4. XM_011529385.1XP_011527687.1  sodium bicarbonate transporter-like protein 11 isoform X4

    See identical proteins and their annotated locations for XP_011527687.1

    Related
    ENSP00000493824.1, ENST00000644692.1
    Conserved Domains (2) summary
    pfam00955
    Location:307798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184263
    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 ...
  5. XM_017028094.1XP_016883583.1  sodium bicarbonate transporter-like protein 11 isoform X4

    Conserved Domains (2) summary
    pfam00955
    Location:307798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184263
    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_005260857.1XP_005260914.1  sodium bicarbonate transporter-like protein 11 isoform X4

    See identical proteins and their annotated locations for XP_005260914.1

    Conserved Domains (2) summary
    pfam00955
    Location:307798
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:184263
    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 ...
  7. XM_005260856.5XP_005260913.1  sodium bicarbonate transporter-like protein 11 isoform X1

    Conserved Domains (2) summary
    pfam00955
    Location:487940
    HCO3_cotransp; HCO3- transporter family
    cl00163
    Location:364443
    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_017028093.1XP_016883582.1  sodium bicarbonate transporter-like protein 11 isoform X2

  9. XM_017028097.1XP_016883586.1  sodium bicarbonate transporter-like protein 11 isoform X6

RNA

  1. XR_001754420.2 RNA Sequence

  2. XR_001754419.1 RNA Sequence

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