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SLC4A4 solute carrier family 4 member 4 [ Homo sapiens (human) ]

Gene ID: 8671, updated on 5-Jan-2025

Summary

Official Symbol
SLC4A4provided by HGNC
Official Full Name
solute carrier family 4 member 4provided by HGNC
Primary source
HGNC:HGNC:11030
See related
Ensembl:ENSG00000080493 MIM:603345; AllianceGenome:HGNC:11030
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
KNBC; NBC1; NBC2; pNBC; HNBC1; NBCe1; PRTAO; hhNMC; kNBC1; SLC4A5; NBCe1-A
Summary
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Expression
Biased expression in kidney (RPKM 56.0), pancreas (RPKM 31.5) and 12 other tissues See more
Orthologs
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Genomic context

See SLC4A4 in Genome Data Viewer
Location:
4q13.3
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (71062660..71572083)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (74404936..74914352)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (72052482..72437800)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15473 Neighboring gene Sharpr-MPRA regulatory region 2882 Neighboring gene MOB kinase activator 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:71869952-71870648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21605 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:71883900-71884096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:71894495-71894995 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:71924658-71925260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:71925261-71925861 Neighboring gene deoxycytidine kinase Neighboring gene uncharacterized LOC124900712 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:72061583-72062135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:72165851-72166352 Neighboring gene probable UDP-sugar transporter protein SLC35A4 Neighboring gene SLC35A4 upstream open reading frame protein-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:72234371-72234872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:72234873-72235372 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:72338203-72339402 Neighboring gene lactate dehydrogenase A like 6E, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:72458772-72459481 Neighboring gene uncharacterized LOC107986285 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:72479894-72481093 Neighboring gene uncharacterized LOC105377271 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:72519382-72520581

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Autosomal recessive proximal renal tubular acidosis
MedGen: C1970309 OMIM: 604278 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants.
EBI GWAS Catalog
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
EBI GWAS Catalog
Impact of ancestry and common genetic variants on QT interval in African Americans.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • DKFZp781H1314

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in bicarbonate transport  
involved_in bicarbonate transport PubMed 
involved_in bicarbonate transport  
involved_in bicarbonate transport PubMed 
involved_in bicarbonate transport  
involved_in inorganic anion transport  
involved_in monoatomic anion transmembrane transport  
acts_upstream_of positive regulation of glycolytic process PubMed 
acts_upstream_of positive regulation of glycolytic process PubMed 
involved_in regulation of intracellular pH  
acts_upstream_of regulation of intracellular pH PubMed 
acts_upstream_of regulation of intracellular pH PubMed 
involved_in regulation of intracellular pH PubMed 
acts_upstream_of regulation of intracellular pH PubMed 
acts_upstream_of regulation of membrane potential PubMed 
acts_upstream_of regulation of membrane potential PubMed 
involved_in sodium ion export across plasma membrane PubMed 
involved_in sodium ion transmembrane transport PubMed 
involved_in sodium ion transmembrane transport  
involved_in sodium ion transport PubMed 
involved_in transmembrane transport  
involved_in transmembrane transport PubMed 
involved_in transport across blood-brain barrier PubMed 
Component Evidence Code Pubs
is_active_in basolateral plasma membrane  
located_in basolateral plasma membrane PubMed 
located_in basolateral plasma membrane PubMed 
located_in cell surface PubMed 
located_in extracellular exosome PubMed 
is_active_in membrane PubMed 
located_in membrane PubMed 
is_active_in plasma membrane  
is_active_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  

General protein information

Preferred Names
electrogenic sodium bicarbonate cotransporter 1
Names
Na(+)/HCO3(-) cotransporter
kidney type Na+/HCO3- cotransporter
pancreatic sodium bicarbonate cotransporter
sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type
solute carrier family 4, sodium bicarbonate cotransporter, member 5

NCBI Reference Sequences (RefSeq)

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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_012653.2 RefSeqGene

    Range
    129107..514425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098484.3NP_001091954.1  electrogenic sodium bicarbonate cotransporter 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC019089, AC079230, AC096713, AC110783
    Consensus CDS
    CCDS43236.1
    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
    Related
    ENSP00000264485.5, ENST00000264485.11
    Conserved Domains (1) summary
    TIGR00834
    Location:1091003
    ae; anion exchange protein
  2. NM_001134742.2NP_001128214.1  electrogenic sodium bicarbonate cotransporter 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. It encodes isoform 3 which has a longer and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC019089, AC079230, AC096713, AC110783
    Consensus CDS
    CCDS47071.1
    UniProtKB/TrEMBL
    A0A8V8TNB1, A5JJ20
    Related
    ENSP00000393557.1, ENST00000425175.5
    Conserved Domains (3) summary
    TIGR00834
    Location:1091003
    ae; anion exchange protein
    pfam00955
    Location:436955
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:137387
    Band_3_cyto; Band 3 cytoplasmic domain
  3. NM_003759.4NP_003750.1  electrogenic sodium bicarbonate cotransporter 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and an isoform (2) with a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC019089, AC079230, AC110783
    Consensus CDS
    CCDS3549.1
    UniProtKB/TrEMBL
    A0A8V8TNB1
    Related
    ENSP00000344272.3, ENST00000340595.4
    Conserved Domains (1) summary
    TIGR00834
    Location:65959
    ae; anion exchange protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    71062660..71572083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454268.2XP_024310036.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TNB1
    Related
    ENSP00000513771.1, ENST00000698522.1
    Conserved Domains (1) summary
    TIGR00834
    Location:1141008
    ae; anion exchange protein
  2. XM_024454269.2XP_024310037.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TNB1
    Conserved Domains (1) summary
    TIGR00834
    Location:1141008
    ae; anion exchange protein
  3. XM_024454270.2XP_024310038.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
    Related
    ENSP00000497468.1, ENST00000649996.1
    Conserved Domains (1) summary
    TIGR00834
    Location:1091003
    ae; anion exchange protein
  4. XM_024454272.2XP_024310040.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
    Conserved Domains (1) summary
    TIGR00834
    Location:1091003
    ae; anion exchange protein
  5. XM_024454271.2XP_024310039.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
    Conserved Domains (1) summary
    TIGR00834
    Location:1091003
    ae; anion exchange protein
  6. XM_024454267.2XP_024310035.1  electrogenic sodium bicarbonate cotransporter 1 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TNB1
    Conserved Domains (1) summary
    TIGR00834
    Location:1401034
    ae; anion exchange protein
  7. XM_017008792.2XP_016864281.1  electrogenic sodium bicarbonate cotransporter 1 isoform X4

    UniProtKB/TrEMBL
    A0A8V8TNB1
  8. XM_047416348.1XP_047272304.1  electrogenic sodium bicarbonate cotransporter 1 isoform X7

  9. XM_017008793.2XP_016864282.1  electrogenic sodium bicarbonate cotransporter 1 isoform X5

  10. XM_011532390.3XP_011530692.1  electrogenic sodium bicarbonate cotransporter 1 isoform X6

    Conserved Domains (2) summary
    pfam00955
    Location:250769
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:59201
    Band_3_cyto; Band 3 cytoplasmic domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    74404936..74914352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351152.1XP_054207127.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TNB1
  2. XM_054351153.1XP_054207128.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TNB1
  3. XM_054351155.1XP_054207130.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
  4. XM_054351154.1XP_054207129.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
  5. XM_054351156.1XP_054207131.1  electrogenic sodium bicarbonate cotransporter 1 isoform X3

    UniProtKB/Swiss-Prot
    C4B714, O15153, Q8NEJ2, Q9H262, Q9NRZ1, Q9UIC0, Q9UIC1, Q9UP50, Q9Y6R1
    UniProtKB/TrEMBL
    A0A8V8TNB1
  6. XM_054351151.1XP_054207126.1  electrogenic sodium bicarbonate cotransporter 1 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TNB1
  7. XM_054351157.1XP_054207132.1  electrogenic sodium bicarbonate cotransporter 1 isoform X4

    UniProtKB/TrEMBL
    A0A8V8TNB1
  8. XM_054351158.1XP_054207133.1  electrogenic sodium bicarbonate cotransporter 1 isoform X5

  9. XM_054351159.1XP_054207134.1  electrogenic sodium bicarbonate cotransporter 1 isoform X6

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