SLC4A7 solute carrier family 4 member 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC4A7provided by HGNC
Official Full Name: solute carrier family 4 member 7provided by HGNC
Primary source: HGNC:HGNC:11033
See related: Ensembl:ENSG00000033867 MIM:603353; AllianceGenome:HGNC:11033
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: NBC2; NBC3; SBC2; NBCN1; SLC4A6
Summary: This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
Expression: Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p24.1

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (27372723..27484384, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (27374872..27486481, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (27414214..27525875, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Antibodies toward Na[+],HCO3[-]-cotransporter NBCn1/SLC4A7 block net acid extrusion and cause pH-dependent growth inhibition and apoptosis in breast cancer.
Title: Antibodies toward Na(+),HCO(3)(-)-cotransporter NBCn1/SLC4A7 block net acid extrusion and cause pH-dependent growth inhibition and apoptosis in breast cancer.
Update on the relationship between the SLC4A7 variant rs4973768 and breast cancer risk: a systematic review and meta-analysis.
Title: Update on the relationship between the SLC4A7 variant rs4973768 and breast cancer risk: a systematic review and meta-analysis.
Dynamic localization of the Na+-HCO3- co-transporter NBCn1 to the plasma membrane, centrosomes, spindle and primary cilia.
Title: Dynamic localization of the Na+-HCO3- co-transporter NBCn1 to the plasma membrane, centrosomes, spindle and primary cilia.
The mTORC1-SLC4A7 axis stimulates bicarbonate import to enhance de novo nucleotide synthesis.
Title: The mTORC1-SLC4A7 axis stimulates bicarbonate import to enhance de novo nucleotide synthesis.
Increased Alcohol Consumption in Mice Lacking Sodium Bicarbonate Transporter NBCn1.
Title: Increased Alcohol Consumption in Mice Lacking Sodium Bicarbonate Transporter NBCn1.
SLC4A7 and bicarbonate-driven cytoplasmic pH homeostasis as an important element of phagocytosis and the associated microbicidal functions in macrophages.
Title: The Bicarbonate Transporter SLC4A7 Plays a Key Role in Macrophage Phagosome Acidification.
rs3278 and rs3755652 stimulate an alternative transcription of the SLC4A7 gene, increasing the production of a defective transporter.
Title: Alternative transcription of sodium/bicarbonate transporter SLC4A7 gene enhanced by single nucleotide polymorphisms.
the disease-associated T allele of a new hypertension risk variant rs820430 linked increased hypertension risk through higher SLC4A7 expression, and rs820430 functioned as an enhancer of SLC4A7 transcription by allele distinctively increased c-Fos transcription factor binding.
Title: The Hypertension Risk Variant Rs820430 Functions as an Enhancer of SLC4A7.
this is the first work to demonstrate 3'UTR-mediated NBCn1 regulation, shows that p95HER2 regulates NBCn1 expression at multiple levels, and substantiates the central position of p95HER2-NBCn1 signaling in breast cancer.
Title: Oncogenic p95HER2 regulates Na+-HCO3- cotransporter NBCn1 mRNA stability in breast cancer cells via 3'UTR-dependent processes.
The finding of a genotypic influence on SLC4A7 expression and pHi regulation in vascular smooth muscle cells provides an insight into the molecular mechanism underlying the association of variation at the SLC4A7 locus with blood pressure
Title: Increased NBCn1 expression, Na+/HCO3- co-transport and intracellular pH in human vascular smooth muscle cells with a risk allele for hypertension.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five new breast cancer susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC4A7	PubMed
Knockdown of solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92347 (e-PCR)
- UniSTS:85605

SHGC-149867 (e-PCR)
- UniSTS:177268

G63491 (e-PCR)
- UniSTS:140453

SLC4A7_7948 (e-PCR)
- UniSTS:468138

WI-18242 (e-PCR)
- UniSTS:5579

SHGC-76801 (e-PCR)
- UniSTS:79311

G59804 (e-PCR)
- UniSTS:136953

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monoatomic anion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium:bicarbonate symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium:bicarbonate symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium:bicarbonate symporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sodium:bicarbonate symporter activity	NAS Non-traceable Author Statement more info	PubMed
enables sodium:bicarbonate symporter activity	TAS Traceable Author Statement more info
enables solute:inorganic anion antiporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in auditory receptor cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in bicarbonate transport	NAS Non-traceable Author Statement more info	PubMed
involved_in bicarbonate transport	TAS Traceable Author Statement more info
involved_in cellular response to growth factor stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in inorganic anion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in phagosome acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in purine nucleotide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pyrimidine nucleotide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in basolateral plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium bicarbonate cotransporter 3

Names: bicarbonate transporter; electroneutral Na/HCO(3) cotransporter; sodium bicarbonate cotransporter 2; sodium bicarbonate cotransporter 2b; solute carrier family 4, sodium bicarbonate cotransporter, member 7

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

NG_032673.1 RefSeqGene

Range

5037..116698

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001258379.2 → NP_001245308.1 sodium bicarbonate cotransporter 3 isoform b

See identical proteins and their annotated locations for NP_001245308.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant has additional differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AA569234, AK310865, AL389947, CR627428, DA756057, EU499349, EU934246

Consensus CDS

CCDS58820.1

UniProtKB/TrEMBL

B5M450

Related

ENSP00000407382.1, ENST00000455077.5

Conserved Domains (1) summary

cl26877
Location:118 → 1016

Band_3_cyto; Band 3 cytoplasmic domain
NM_001258380.2 → NP_001245309.1 sodium bicarbonate cotransporter 3 isoform c

See identical proteins and their annotated locations for NP_001245309.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.

Source sequence(s)

AA569234, AC099535, AF089726, AK310865, AL389947, EU934250

Consensus CDS

CCDS58819.1

UniProtKB/TrEMBL

C9JRP1

Related

ENSP00000416368.1, ENST00000428386.5

Conserved Domains (3) summary

TIGR00834
Location:113 → 1011

ae; anion exchange protein

pfam00955
Location:451 → 964

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 408

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321103.2 → NP_001308032.1 sodium bicarbonate cotransporter 3 isoform d

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934248, EU934249, FJ178574

Consensus CDS

CCDS82747.1

UniProtKB/TrEMBL

B5M450

Related

ENSP00000390394.1, ENST00000454389.6

Conserved Domains (3) summary

TIGR00834
Location:122 → 1144

ae; anion exchange protein

pfam00955
Location:584 → 1097

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 541

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321104.2 → NP_001308033.1 sodium bicarbonate cotransporter 3 isoform e

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU934250

Consensus CDS

CCDS82749.1

UniProtKB/TrEMBL

B5M450

Related

ENSP00000414797.1, ENST00000440156.5

Conserved Domains (3) summary

TIGR00834
Location:122 → 1131

ae; anion exchange protein

pfam00955
Location:571 → 1084

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 528

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321105.2 → NP_001308034.1 sodium bicarbonate cotransporter 3 isoform f

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934247, EU934249, FJ178574

Consensus CDS

CCDS82748.1

UniProtKB/TrEMBL

B5M450, E9PFN4

Related

ENSP00000406804.1, ENST00000445684.5

Conserved Domains (3) summary

TIGR00834
Location:122 → 1131

ae; anion exchange protein

pfam00955
Location:571 → 1084

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 528

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321106.2 → NP_001308035.1 sodium bicarbonate cotransporter 3 isoform g

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, FJ178574

Consensus CDS

CCDS82751.1

UniProtKB/TrEMBL

B5M450

Related

ENSP00000406605.1, ENST00000446700.5

Conserved Domains (3) summary

TIGR00834
Location:118 → 1127

ae; anion exchange protein

pfam00955
Location:567 → 1080

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:146 → 524

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321107.2 → NP_001308036.1 sodium bicarbonate cotransporter 3 isoform h

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249

Consensus CDS

CCDS82750.1

UniProtKB/TrEMBL

B5M450

Related

ENSP00000394252.1, ENST00000437179.5

Conserved Domains (3) summary

TIGR00834
Location:118 → 1016

ae; anion exchange protein

pfam00955
Location:456 → 969

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:146 → 413

Band_3_cyto; Band 3 cytoplasmic domain
NM_001321108.2 → NP_001308037.1 sodium bicarbonate cotransporter 3 isoform i

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, GU354308

UniProtKB/TrEMBL

B5M450

Conserved Domains (3) summary

TIGR00834
Location:122 → 1020

ae; anion exchange protein

pfam00955
Location:460 → 973

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 417

Band_3_cyto; Band 3 cytoplasmic domain
NM_003615.5 → NP_003606.3 sodium bicarbonate cotransporter 3 isoform a

See identical proteins and their annotated locations for NP_003606.3

Status: REVIEWED

Description

Transcript Variant: This variant encodes isoform a.

Source sequence(s)

AA569234, AC099535, AF047033, AK310865, AL389947, EU934250

Consensus CDS

CCDS33721.1

UniProtKB/Swiss-Prot

A6NIA8, B2CI53, B5M449, B5M451, B5M452, B5M453, B6DY52, B6DY53, C9JST9, D3K174, D3K175, O60350, Q6AHZ9, Q9HC88, Q9UIB9, Q9Y6M7

UniProtKB/TrEMBL

A0A0A0MST8

Related

ENSP00000295736.5, ENST00000295736.9

Conserved Domains (3) summary

TIGR00834
Location:113 → 1135

ae; anion exchange protein

pfam00955
Location:575 → 1088

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 532

Band_3_cyto; Band 3 cytoplasmic domain

RNA

NR_135541.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574
NR_135542.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574, FJ178575
NR_135543.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, FJ178574, FJ178575
NR_135544.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AA569234, AF047033, AF053755, AK309734, AK310865, AL389947, EU499349, EU934249, FJ178574, GU354307

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

27372723..27484384 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007527.3 → XP_016863016.1 sodium bicarbonate cotransporter 3 isoform X9

UniProtKB/TrEMBL

B5M450
XM_047449246.1 → XP_047305202.1 sodium bicarbonate cotransporter 3 isoform X3
XM_006713421.4 → XP_006713484.1 sodium bicarbonate cotransporter 3 isoform X1

UniProtKB/TrEMBL

B5M450

Conserved Domains (3) summary

TIGR00834
Location:118 → 1140

ae; anion exchange protein

pfam00955
Location:580 → 1093

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:146 → 537

Band_3_cyto; Band 3 cytoplasmic domain
XM_011534263.4 → XP_011532565.1 sodium bicarbonate cotransporter 3 isoform X8

UniProtKB/TrEMBL

B5M450

Conserved Domains (3) summary

TIGR00834
Location:122 → 1007

ae; anion exchange protein

pfam00955
Location:447 → 960

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 404

Band_3_cyto; Band 3 cytoplasmic domain
XM_011534265.3 → XP_011532567.1 sodium bicarbonate cotransporter 3 isoform X11

UniProtKB/TrEMBL

B5M450

Conserved Domains (3) summary

TIGR00834
Location:122 → 1020

ae; anion exchange protein

pfam00955
Location:460 → 973

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 417

Band_3_cyto; Band 3 cytoplasmic domain
XM_011534258.3 → XP_011532560.1 sodium bicarbonate cotransporter 3 isoform X4

UniProtKB/TrEMBL

B5M450

Conserved Domains (3) summary

TIGR00834
Location:122 → 1144

ae; anion exchange protein

pfam00955
Location:584 → 1097

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:150 → 541

Band_3_cyto; Band 3 cytoplasmic domain
XM_047449247.1 → XP_047305203.1 sodium bicarbonate cotransporter 3 isoform X6
XM_005265600.6 → XP_005265657.1 sodium bicarbonate cotransporter 3 isoform X10

UniProtKB/TrEMBL

C9JRP1

Conserved Domains (3) summary

TIGR00834
Location:113 → 998

ae; anion exchange protein

pfam00955
Location:438 → 951

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 395

Band_3_cyto; Band 3 cytoplasmic domain
XM_011534261.4 → XP_011532563.1 sodium bicarbonate cotransporter 3 isoform X5

UniProtKB/TrEMBL

A0A0A0MST8

Conserved Domains (3) summary

TIGR00834
Location:113 → 1122

ae; anion exchange protein

pfam00955
Location:562 → 1075

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 519

Band_3_cyto; Band 3 cytoplasmic domain
XM_005265598.6 → XP_005265655.1 sodium bicarbonate cotransporter 3 isoform X7

UniProtKB/TrEMBL

C9JRP1

Conserved Domains (3) summary

TIGR00834
Location:113 → 1011

ae; anion exchange protein

pfam00955
Location:451 → 964

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 408

Band_3_cyto; Band 3 cytoplasmic domain
XM_011534256.4 → XP_011532558.1 sodium bicarbonate cotransporter 3 isoform X2

UniProtKB/TrEMBL

A0A0A0MST8

Conserved Domains (3) summary

TIGR00834
Location:113 → 1135

ae; anion exchange protein

pfam00955
Location:575 → 1088

HCO3_cotransp; HCO3- transporter family

pfam07565
Location:141 → 532

Band_3_cyto; Band 3 cytoplasmic domain
XM_017007529.1 → XP_016863018.1 sodium bicarbonate cotransporter 3 isoform X12

UniProtKB/TrEMBL

H7C3C4

Related

ENSP00000411031.1, ENST00000419036.5
XM_017007528.1 → XP_016863017.1 sodium bicarbonate cotransporter 3 isoform X12

UniProtKB/TrEMBL

H7C3C4
XM_047449248.1 → XP_047305204.1 sodium bicarbonate cotransporter 3 isoform X13

Related

ENSP00000409418.1, ENST00000437266.5