LOCUS NP_067019 1137 aa linear PRI 19-SEP-2024
DEFINITION electrogenic sodium bicarbonate cotransporter 4 isoform a [Homo
sapiens].
ACCESSION NP_067019
VERSION NP_067019.3
DBSOURCE REFSEQ: accession NM_021196.3
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1137)
AUTHORS Gildea,J.J., Xu,P., Kemp,B.A., Carlson,J.M., Tran,H.T., Bigler
Wang,D., Langouet-Astrie,C.J., McGrath,H.E., Carey,R.M., Jose,P.A.
and Felder,R.A.
TITLE Sodium bicarbonate cotransporter NBCe2 gene variants increase
sodium and bicarbonate transport in human renal proximal tubule
cells
JOURNAL PLoS One 13 (4), e0189464 (2018)
PUBMED 29642240
REMARK GeneRIF: NBCe2 activity is stimulated by an increase in
intracellular sodium and is hyper-responsive in hRPTCs carrying HV
SLC4A5 rs7571842 through an aberrant HNF4A-mediated mechanism
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 1137)
AUTHORS Gildea,J.J., Xu,P., Carlson,J.M., Gaglione,R.T., Bigler Wang,D.,
Kemp,B.A., Reyes,C.M., McGrath,H.E., Carey,R.M., Jose,P.A. and
Felder,R.A.
TITLE The sodium-bicarbonate cotransporter NBCe2 (slc4a5) expressed in
human renal proximal tubules shows increased apical expression
under high-salt conditions
JOURNAL Am J Physiol Regul Integr Comp Physiol 309 (11), R1447-R1459 (2015)
PUBMED 26447209
REMARK GeneRIF: NBCe2 could be important in proximal kidney tubule apical
sodium and bicarbonate cotransport under high-salt conditions.
REFERENCE 3 (residues 1 to 1137)
AUTHORS Wen,D. and Sansom,S.C.
TITLE Physiological role of NBCe2 in the regulation of electrolyte
transport in the distal nephron
JOURNAL Am J Physiol Renal Physiol 309 (6), F489-F491 (2015)
PUBMED 26136555
REMARK GeneRIF: we summarize the potential function of NBCe2 in the
regulation of blood pressure, acid-base, and K(+) and Ca(2+)
transport in the distal nephron--{REVIEW}
Review article
REFERENCE 4 (residues 1 to 1137)
AUTHORS Xie,P., Kranzler,H.R., Yang,C., Zhao,H., Farrer,L.A. and
Gelernter,J.
TITLE Genome-wide association study identifies new susceptibility loci
for posttraumatic stress disorder
JOURNAL Biol Psychiatry 74 (9), 656-663 (2013)
PUBMED 23726511
REFERENCE 5 (residues 1 to 1137)
AUTHORS Carey,R.M., Schoeffel,C.D., Gildea,J.J., Jones,J.E., McGrath,H.E.,
Gordon,L.N., Park,M.J., Sobota,R.S., Underwood,P.C., Williams,J.,
Sun,B., Raby,B., Lasky-Su,J., Hopkins,P.N., Adler,G.K.,
Williams,S.M., Jose,P.A. and Felder,R.A.
TITLE Salt sensitivity of blood pressure is associated with polymorphisms
in the sodium-bicarbonate cotransporter
JOURNAL Hypertension 60 (5), 1359-1366 (2012)
PUBMED 22987918
REMARK GeneRIF: Data indicate that 2 SNPs in SLC4A5 (rs7571842 and
rs10177833) showed highly significant results and large effects
sizes.
REFERENCE 6 (residues 1 to 1137)
AUTHORS Virkki,L.V., Wilson,D.A., Vaughan-Jones,R.D. and Boron,W.F.
TITLE Functional characterization of human NBC4 as an electrogenic
Na+-HCO cotransporter (NBCe2)
JOURNAL Am J Physiol Cell Physiol 282 (6), C1278-C1289 (2002)
PUBMED 11997242
REFERENCE 7 (residues 1 to 1137)
AUTHORS Sassani,P., Pushkin,A., Gross,E., Gomer,A., Abuladze,N.,
Dukkipati,R., Carpenito,G. and Kurtz,I.
TITLE Functional characterization of NBC4: a new electrogenic
sodium-bicarbonate cotransporter
JOURNAL Am J Physiol Cell Physiol 282 (2), C408-C416 (2002)
PUBMED 11788353
REFERENCE 8 (residues 1 to 1137)
AUTHORS Soleimani,M. and Burnham,C.E.
TITLE Na+:HCO(3-) cotransporters (NBC): cloning and characterization
JOURNAL J Membr Biol 183 (2), 71-84 (2001)
PUBMED 11562789
REMARK Review article
REFERENCE 9 (residues 1 to 1137)
AUTHORS Pushkin,A., Abuladze,N., Newman,D., Lee,I., Xu,G. and Kurtz,I.
TITLE Cloning, characterization and chromosomal assignment of NBC4, a new
member of the sodium bicarbonate cotransporter family
JOURNAL Biochim Biophys Acta 1493 (1-2), 215-218 (2000)
PUBMED 10978526
REFERENCE 10 (residues 1 to 1137)
AUTHORS Pushkin,A., Abuladze,N., Newman,D., Lee,I., Xu,G. and Kurtz,I.
TITLE Two C-terminal variants of NBC4, a new member of the sodium
bicarbonate cotransporter family: cloning, characterization, and
localization
JOURNAL IUBMB Life 50 (1), 13-19 (2000)
PUBMED 11087115
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AF293337.2 and AF243499.2.
On Feb 16, 2007 this sequence version replaced NP_067019.2.
Summary: This gene encodes a member of the sodium bicarbonate
cotransporter (NBC) family, part of the bicarbonate transporter
superfamily. Sodium bicarbonate cotransporters are involved in
intracellular pH regulation and electroneural or electrogenic
sodium bicarbonate transport. This protein is thought to be an
integral membrane protein. Multiple transcript variants encoding
different isoforms have been found for this gene, but the
biological validity of some variants has not been determined.
[provided by RefSeq, Jul 2008].
Transcript Variant: This variant (a) encodes the longest isoform
(a).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF243499.2 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..1137
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="2"
/map="2p13.1"
Protein 1..1137
/product="electrogenic sodium bicarbonate cotransporter 4
isoform a"
/note="electrogenic sodium bicarbonate cotransporter 4;
solute carrier family 4 (sodium bicarbonate
cotransporter), member 5"
/calculated_mol_wt=126125
Region 1..52
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Region 64..94
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Region 114..1070
/region_name="Band_3_cyto"
/note="Band 3 cytoplasmic domain; cl26877"
/db_xref="CDD:452680"
Region 221..255
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Region 438..478
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 522..544
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 556..587
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 607..628
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 743..762
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 774..795
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 829..847
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 867..883
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 889..908
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 929..948
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 954..971
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 1017..1034
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Site 1040..1057
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
Region 1079..1137
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)"
CDS 1..1137
/gene="SLC4A5"
/gene_synonym="NBC4; NBCe2"
/coded_by="NM_021196.3:3..3416"
/note="isoform a is encoded by transcript variant a"
/db_xref="CCDS:CCDS1936.1"
/db_xref="GeneID:57835"
/db_xref="HGNC:HGNC:18168"
/db_xref="MIM:606757"
ORIGIN
1 mkvkeekagv gkldhtnhrr rfpdqkecpp ihiglpvpty pqrktdqkgh lsglqkvhwg
61 lrpdqpqqel tgpgsgassq dssmdlisrt rspaaeqlqd ilgeedeapn ptlftemdtl
121 qhdgdqmewk esarwikfee kveeggerws kphvstlslh slfelrtclq tgtvlldlds
181 gslpqiiddv iekqiedgll rpelrervsy vllrrhrhqt kkpihrslad igksvsttnr
241 sparspgagp slhhstedlr mrqsanygrl chaqsrsmnd isltpntdqr knkfmkkipk
301 dseasnvlvg evdfldqpfi afvrliqsam lggvtevpvp trflfillgp sgraksynei
361 graiatlmvd dlfsdvayka rnredliagi defldevivl ppgewdpnir ieppkkvpsa
421 dkrksvfsla elgqmngsvg ggggapgggn gggggggsgg gagsggaggt ssgddgempa
481 mheigeeliw tgrffgglcl dikrklpwfp sdfydgfhiq sisailfiyl gcitnaitfg
541 gllgdatdny qgvmesflgt amagslfclf sgqpliilss tgpilifekl lfdfskgngl
601 dymefrlwig lhsavqclil vatdasfiik yitrfteegf stlisfifiy daikkmigaf
661 kyypinmdfk pnfittykce cvapdtvntt vfnasaplap dtnaslynll nltaldwsll
721 skkeclsygg rllgnsckfi pdlalmsfil ffgtysmtlt lkkfkfsryf ptkvralvad
781 fsivfsilmf cgidacfgle tpklhvpsvi kptrpdrgwf vapfgknpww vypasilpal
841 lvtilifmdq qitavivnrk enklkkaagy hldlfwvgil malcsfmglp wyvaatvisi
901 ahidslkmet etsapgeqpq flgvreqrvt giivfiltgi svflapilkc iplpvlygvf
961 lymgvaslng iqmgtggsef kiqkkltpfw ercklflmpa khqpdhaflr hvplrrihlf
1021 tlvqilclav lwilkstvaa iifpvmilgl iivrrlldfi fsqhdlawid nilpekekke
1081 tdkkrkrkkg ahedcdeepq fpppsvikip mesvqsdpqn gihciarkrs sswsysl
//