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SLC4A1 solute carrier family 4 member 1 (Diego blood group) [ Homo sapiens (human) ]

Gene ID: 6521, updated on 1-Aug-2020

Summary

Official Symbol
SLC4A1provided by HGNC
Official Full Name
solute carrier family 4 member 1 (Diego blood group)provided by HGNC
Primary source
HGNC:HGNC:11027
See related
Ensembl:ENSG00000004939 MIM:109270
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
DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A
Summary
The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward bone marrow (RPKM 157.0) See more
Orthologs

Genomic context

See SLC4A1 in Genome Data Viewer
Location:
17q21.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44248390..44268161, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42325758..42351654, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926967 Neighboring gene microRNA 6782 Neighboring gene upstream binding transcription factor Neighboring gene SHC adaptor protein 1 pseudogene 2 Neighboring gene uncharacterized LOC105371790 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2867

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?

Phenotypes

Associated conditions

Description Tests
Autosomal dominant distal renal tubular acidosis Compare labs
BLOOD GROUP--DIEGO SYSTEM
MedGen: C1292286 OMIM: 110500 GeneReviews: Not available
Compare labs
BLOOD GROUP--FROESE
MedGen: C1832168 OMIM: 601551 GeneReviews: Not available
Compare labs
BLOOD GROUP--SWANN SYSTEM
MedGen: C1832169 OMIM: 601550 GeneReviews: Not available
Compare labs
BLOOD GROUP--WALDNER TYPE
MedGen: C1862191 OMIM: 112010 GeneReviews: Not available
Compare labs
BLOOD GROUP--WRIGHT ANTIGEN
MedGen: C1862190 OMIM: 112050 GeneReviews: Not available
Compare labs
Hereditary cryohydrocytosis with normal stomatin
MedGen: C1861453 OMIM: 185020 GeneReviews: Not available
Compare labs
Ovalocytosis, southeast Asian
MedGen: C1862322 OMIM: 166900 GeneReviews: Not available
Compare labs
Renal tubular acidosis, distal, with hemolytic anemia Compare labs
Spherocytosis type 4
MedGen: C2675212 OMIM: 612653 GeneReviews: Not available
Compare labs
Susceptibility to malaria
MedGen: C1970028 OMIM: 611162 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group; SLC4A1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116750, MGC116753, MGC126619, MGC126623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
anion transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
anion:anion antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
ankyrin binding IPI
Inferred from Physical Interaction
more info
PubMed 
bicarbonate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
hemoglobin binding IEA
Inferred from Electronic Annotation
more info
 
inorganic anion exchanger activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein membrane anchor TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anion transport IDA
Inferred from Direct Assay
more info
PubMed 
bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicarbonate transport IDA
Inferred from Direct Assay
more info
PubMed 
bicarbonate transport TAS
Traceable Author Statement
more info
 
blood coagulation IEA
Inferred from Electronic Annotation
more info
 
cellular ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport ISS
Inferred from Sequence or Structural Similarity
more info
 
erythrocyte development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of glycolytic process through fructose-6-phosphate IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
pH elevation IEA
Inferred from Electronic Annotation
more info
 
phospholipid scrambling IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
blood microparticle HDA PubMed 
cortical cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
band 3 anion transport protein
Names
Diego blood group
Froese blood group
Swann blood group
Waldner blood group
Wright blood group
anion exchange protein 1
anion exchanger-1
band 3 anion exchanger
erythrocyte membrane protein band 3
erythroid anion exchange protein
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
solute carrier family 4, anion exchanger, number 1

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_007498.1 RefSeqGene

    Range
    5000..24745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000342.4NP_000333.1  band 3 anion transport protein

    See identical proteins and their annotated locations for NP_000333.1

    Status: REVIEWED

    Source sequence(s)
    AC003043, AC003102, X12609
    Consensus CDS
    CCDS11481.1
    UniProtKB/Swiss-Prot
    P02730
    Related
    ENSP00000262418.6, ENST00000262418.12
    Conserved Domains (3) summary
    TIGR00834
    Location:58910
    ae; anion exchange protein
    pfam00955
    Location:372839
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:86329
    Band_3_cyto; Band 3 cytoplasmic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44248390..44268161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525129.2XP_011523431.1  band 3 anion transport protein isoform X1

    Conserved Domains (3) summary
    TIGR00834
    Location:58880
    ae; anion exchange protein
    pfam00955
    Location:372809
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:86329
    Band_3_cyto; Band 3 cytoplasmic domain
  2. XM_005257593.5XP_005257650.1  band 3 anion transport protein isoform X3

    See identical proteins and their annotated locations for XP_005257650.1

    UniProtKB/Swiss-Prot
    P02730
    Conserved Domains (3) summary
    TIGR00834
    Location:1845
    ae; anion exchange protein
    pfam00955
    Location:307774
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:21264
    Band_3_cyto; Band 3 cytoplasmic domain
  3. XM_011525130.1XP_011523432.1  band 3 anion transport protein isoform X2

    Conserved Domains (2) summary
    pfam00955
    Location:372770
    HCO3_cotransp; HCO3- transporter family
    pfam07565
    Location:86329
    Band_3_cyto; Band 3 cytoplasmic domain
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