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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
    NEW
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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

    BioGRID CRISPR Screen Phenotypes (17 hits/1264 screens)

    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)

    NEW Try the new Transcript table

    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_001098484.3 → NP_001091954.1  electrogenic sodium bicarbonate cotransporter 1 isoform 1

      See identical proteins and their annotated locations for NP_001091954.1

      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:109 → 1003
      ae; anion exchange protein
    2. NM_001134742.2 → NP_001128214.1  electrogenic sodium bicarbonate cotransporter 1 isoform 3

      See identical proteins and their annotated locations for NP_001128214.1

      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:109 → 1003
      ae; anion exchange protein
      pfam00955
      Location:436 → 955
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:137 → 387
      Band_3_cyto; Band 3 cytoplasmic domain
    3. NM_003759.4 → NP_003750.1  electrogenic sodium bicarbonate cotransporter 1 isoform 2

      See identical proteins and their annotated locations for NP_003750.1

      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:65 → 959
      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_024454268.2 → XP_024310036.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNB1
      Related
      ENSP00000513771.1, ENST00000698522.1
      Conserved Domains (1) summary
      TIGR00834
      Location:114 → 1008
      ae; anion exchange protein
    2. XM_024454269.2 → XP_024310037.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TNB1
      Conserved Domains (1) summary
      TIGR00834
      Location:114 → 1008
      ae; anion exchange protein
    3. XM_024454270.2 → XP_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:109 → 1003
      ae; anion exchange protein
    4. XM_024454272.2 → XP_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:109 → 1003
      ae; anion exchange protein
    5. XM_024454271.2 → XP_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:109 → 1003
      ae; anion exchange protein
    6. XM_024454267.2 → XP_024310035.1  electrogenic sodium bicarbonate cotransporter 1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TNB1
      Conserved Domains (1) summary
      TIGR00834
      Location:140 → 1034
      ae; anion exchange protein
    7. XM_017008792.2 → XP_016864281.1  electrogenic sodium bicarbonate cotransporter 1 isoform X4

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

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

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

      Conserved Domains (2) summary
      pfam00955
      Location:250 → 769
      HCO3_cotransp; HCO3- transporter family
      pfam07565
      Location:59 → 201
      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_054351152.1 → XP_054207127.1  electrogenic sodium bicarbonate cotransporter 1 isoform X2

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

      UniProtKB/TrEMBL
      A0A8V8TNB1
    3. XM_054351155.1 → XP_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_054351154.1 → XP_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_054351156.1 → XP_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_054351151.1 → XP_054207126.1  electrogenic sodium bicarbonate cotransporter 1 isoform X1

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

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

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

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