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Anion exchange protein 4 (AE 4) (Anion exchanger 4) (Sodium bicarbonate cotransporter 5) (Solute carrier family 4 member 9)

 B3A4_HUMAN              Reviewed;         983 AA.
Q96Q91; B7ZL63; D3DQD4; D3DQD5; D3DQD6; E9PDK1; Q96RM5; Q9BXF2;
Q9BXN3;
28-MAR-2003, integrated into UniProtKB/Swiss-Prot.
28-MAR-2003, sequence version 2.
27-SEP-2017, entry version 139.
RecName: Full=Anion exchange protein 4;
Short=AE 4;
Short=Anion exchanger 4;
AltName: Full=Sodium bicarbonate cotransporter 5;
AltName: Full=Solute carrier family 4 member 9;
Name=SLC4A9; Synonyms=AE4, SBC5;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
TISSUE=Kidney, and Testis;
PubMed=11302728; DOI=10.1006/bbrc.2001.4692;
Parker M.D., Ourmozdi E.P., Tanner M.J.A.;
"Human BTR1, a new bicarbonate transporter superfamily member and
human AE4 from kidney.";
Biochem. Biophys. Res. Commun. 282:1103-1109(2001).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
TISSUE=Kidney;
PubMed=11305939; DOI=10.1186/gb-2001-2-4-research0011;
Lipovich L., Lynch E.D., Lee M.K., King M.-C.;
"A novel sodium bicarbonate cotransporter-like gene in an ancient
duplicated region: SLC4A9 at 5q31.";
Genome Biol. 2:RESEARCH0011.1-RESEARCH0011.13(2001).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15372022; DOI=10.1038/nature02919;
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T.,
Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M.,
Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K.,
Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C.,
Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M.,
Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A.,
Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M.,
Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M.,
Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S.,
Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
"The DNA sequence and comparative analysis of human chromosome 5.";
Nature 431:268-274(2004).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Karet F.E.;
"Cloning and characterization of human AE4.";
Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
TISSUE=Lung, Placenta, and Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 3-983 (ISOFORM 3), AND TISSUE
SPECIFICITY.
TISSUE=Testis;
Ishibashi K.;
"Molecular cloning of human sodium bicarbonate cotransporter 5.";
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
-!- FUNCTION: Probable apical anion exchanger of the kidney cortex.
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=Q96Q91-1; Sequence=Displayed;
Name=2;
IsoId=Q96Q91-2; Sequence=VSP_007085, VSP_007086, VSP_007087;
Name=3;
IsoId=Q96Q91-3; Sequence=VSP_007085;
Name=4;
IsoId=Q96Q91-4; Sequence=VSP_007085, VSP_044785;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Kidney specific. {ECO:0000269|PubMed:11305939,
ECO:0000269|Ref.7}.
-!- SIMILARITY: Belongs to the anion exchanger (TC 2.A.31) family.
{ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAK28832.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AF336237; AAK16733.1; -; mRNA.
EMBL; AF313465; AAK28832.1; ALT_INIT; mRNA.
EMBL; AF332961; AAK69625.1; -; mRNA.
EMBL; AC008438; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471062; EAW62062.1; -; Genomic_DNA.
EMBL; CH471062; EAW62063.1; -; Genomic_DNA.
EMBL; CH471062; EAW62064.1; -; Genomic_DNA.
EMBL; CH471062; EAW62066.1; -; Genomic_DNA.
EMBL; CH471062; EAW62067.1; -; Genomic_DNA.
EMBL; CH471062; EAW62068.1; -; Genomic_DNA.
EMBL; BC136262; AAI36263.1; -; mRNA.
EMBL; BC143602; AAI43603.1; -; mRNA.
EMBL; AB032762; BAA93010.1; -; mRNA.
CCDS; CCDS47278.1; -. [Q96Q91-3]
CCDS; CCDS58973.1; -. [Q96Q91-1]
CCDS; CCDS58974.1; -. [Q96Q91-4]
CCDS; CCDS58975.1; -. [Q96Q91-2]
RefSeq; NP_001245355.1; NM_001258426.1. [Q96Q91-2]
RefSeq; NP_001245356.1; NM_001258427.1. [Q96Q91-4]
RefSeq; NP_001245357.1; NM_001258428.1. [Q96Q91-1]
RefSeq; NP_113655.2; NM_031467.2. [Q96Q91-3]
UniGene; Hs.550313; -.
ProteinModelPortal; Q96Q91; -.
STRING; 9606.ENSP00000424424; -.
TCDB; 2.A.31.2.13; the anion exchanger (ae) family.
iPTMnet; Q96Q91; -.
PhosphoSitePlus; Q96Q91; -.
BioMuta; SLC4A9; -.
DMDM; 29427950; -.
PaxDb; Q96Q91; -.
PeptideAtlas; Q96Q91; -.
PRIDE; Q96Q91; -.
Ensembl; ENST00000432095; ENSP00000410056; ENSG00000113073. [Q96Q91-2]
Ensembl; ENST00000506545; ENSP00000422855; ENSG00000113073. [Q96Q91-4]
Ensembl; ENST00000506757; ENSP00000424424; ENSG00000113073. [Q96Q91-3]
Ensembl; ENST00000507527; ENSP00000427661; ENSG00000113073. [Q96Q91-1]
GeneID; 83697; -.
KEGG; hsa:83697; -.
UCSC; uc003lfk.3; human. [Q96Q91-1]
CTD; 83697; -.
DisGeNET; 83697; -.
EuPathDB; HostDB:ENSG00000113073.14; -.
GeneCards; SLC4A9; -.
H-InvDB; HIX0031939; -.
HGNC; HGNC:11035; SLC4A9.
HPA; HPA051307; -.
MIM; 610207; gene.
neXtProt; NX_Q96Q91; -.
OpenTargets; ENSG00000113073; -.
PharmGKB; PA35901; -.
eggNOG; KOG1172; Eukaryota.
eggNOG; ENOG410XPHD; LUCA.
GeneTree; ENSGT00760000119021; -.
HOGENOM; HOG000280684; -.
HOVERGEN; HBG004326; -.
InParanoid; Q96Q91; -.
KO; K13860; -.
OMA; QELLWLD; -.
OrthoDB; EOG091G01FT; -.
PhylomeDB; Q96Q91; -.
TreeFam; TF313630; -.
Reactome; R-HSA-425381; Bicarbonate transporters.
GenomeRNAi; 83697; -.
PRO; PR:Q96Q91; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000113073; -.
CleanEx; HS_SLC4A9; -.
Genevisible; Q96Q91; HS.
GO; GO:0045177; C:apical part of cell; IEA:Ensembl.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0015301; F:anion:anion antiporter activity; IEA:UniProtKB-KW.
GO; GO:0005452; F:inorganic anion exchanger activity; IEA:InterPro.
GO; GO:0008510; F:sodium:bicarbonate symporter activity; IBA:GO_Central.
GO; GO:0015701; P:bicarbonate transport; TAS:Reactome.
GO; GO:0051453; P:regulation of intracellular pH; IBA:GO_Central.
Gene3D; 3.40.930.10; -; 1.
InterPro; IPR013769; Band3_cytoplasmic_dom.
InterPro; IPR011531; HCO3_transpt_C.
InterPro; IPR003020; HCO3_transpt_euk.
InterPro; IPR003024; Na/HCO3_transpt.
InterPro; IPR016152; PTrfase/Anion_transptr.
PANTHER; PTHR11453; PTHR11453; 1.
Pfam; PF07565; Band_3_cyto; 2.
Pfam; PF00955; HCO3_cotransp; 1.
PRINTS; PR01231; HCO3TRNSPORT.
PRINTS; PR01232; NAHCO3TRSPRT.
SUPFAM; SSF55804; SSF55804; 1.
TIGRFAMs; TIGR00834; ae; 1.
2: Evidence at transcript level;
Alternative splicing; Anion exchange; Antiport; Complete proteome;
Disulfide bond; Glycoprotein; Ion transport; Membrane;
Reference proteome; Transmembrane; Transmembrane helix; Transport.
CHAIN 1 983 Anion exchange protein 4.
/FTId=PRO_0000079223.
TOPO_DOM 1 414 Cytoplasmic. {ECO:0000255}.
TRANSMEM 415 435 Helical. {ECO:0000255}.
TRANSMEM 443 463 Helical. {ECO:0000255}.
TRANSMEM 465 485 Helical. {ECO:0000255}.
TRANSMEM 500 520 Helical. {ECO:0000255}.
TRANSMEM 530 550 Helical. {ECO:0000255}.
TOPO_DOM 551 623 Extracellular. {ECO:0000255}.
TRANSMEM 624 644 Helical. {ECO:0000255}.
TRANSMEM 665 685 Helical. {ECO:0000255}.
TOPO_DOM 686 711 Cytoplasmic. {ECO:0000255}.
TRANSMEM 712 732 Helical. {ECO:0000255}.
TRANSMEM 758 778 Helical. {ECO:0000255}.
TRANSMEM 815 835 Helical. {ECO:0000255}.
TRANSMEM 837 857 Helical. {ECO:0000255}.
TRANSMEM 899 919 Helical. {ECO:0000255}.
REGION 415 983 Membrane (anion exchange).
CARBOHYD 576 576 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 600 600 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
DISULFID 566 568 {ECO:0000250|UniProtKB:Q9Y6R1}.
DISULFID 609 621 {ECO:0000250|UniProtKB:Q9Y6R1}.
VAR_SEQ 77 100 Missing (in isoform 2, isoform 3 and
isoform 4). {ECO:0000303|PubMed:11302728,
ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.4, ECO:0000303|Ref.7}.
/FTId=VSP_007085.
VAR_SEQ 384 394 Missing (in isoform 2).
{ECO:0000303|PubMed:11302728}.
/FTId=VSP_007086.
VAR_SEQ 592 594 Missing (in isoform 2).
{ECO:0000303|PubMed:11302728}.
/FTId=VSP_007087.
VAR_SEQ 595 657 Missing (in isoform 4).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_044785.
CONFLICT 23 23 G -> W (in Ref. 5; AAI36263/AAI43603).
{ECO:0000305}.
CONFLICT 101 101 R -> T (in Ref. 4; AAK69625).
{ECO:0000305}.
CONFLICT 453 453 V -> M (in Ref. 1; AAK16733).
{ECO:0000305}.
CONFLICT 795 795 R -> K (in Ref. 1; AAK16733).
{ECO:0000305}.
SEQUENCE 983 AA; 108248 MW; E2AEB04C9D27E6BC CRC64;
MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGSSSA SLLLDMGEMP SITLSTHLHH RWVLFEEKLE VAAGRWSAPH
VPTLALPSLQ KLRSLLAEGL VLLDCPAQSL LELVEQVTRV ESLSPELRGQ LQALLLQRPQ
HYNQTTGTRP CWGSTHPRKA SDNEEAPLRE QCQNPLRQKL PPGAEAGTVL AGELGFLAQP
LGAFVRLRNP VVLGSLTEVS LPSRFFCLLL GPCMLGKGYH EMGRAAAVLL SDPQFQWSVR
RASNLHDLLA ALDAFLEEVT VLPPGRWDPT ARIPPPKCLP SQHKRLPSQQ REIRGPAVPR
LTSAEDRHRH GPHAHSPELQ RTGRLFGGLI QDVRRKVPWY PSDFLDALHL QCFSAVLYIY
LATVTNAITF GGLLGDATDG AQGVLESFLG TAVAGAAFCL MAGQPLTILS STGPVLVFER
LLFSFSRDYS LDYLPFRLWV GIWVATFCLV LVATEASVLV RYFTRFTEEG FCALISLIFI
YDAVGKMLNL THTYPIQKPG SSAYGCLCQY PGPGGNESQW IRTRPKDRDD IVSMDLGLIN
ASLLPPPECT RQGGHPRGPG CHTVPDIAFF SLLLFLTSFF FAMALKCVKT SRFFPSVVRK
GLSDFSSVLA ILLGCGLDAF LGLATPKLMV PREFKPTLPG RGWLVSPFGA NPWWWSVAAA
LPALLLSILI FMDQQITAVI LNRMEYRLQK GAGFHLDLFC VAVLMLLTSA LGLPWYVSAT
VISLAHMDSL RRESRACAPG ERPNFLGIRE QRLTGLVVFI LTGASIFLAP VLKFIPMPVL
YGIFLYMGVA ALSSIQFTNR VKLLLMPAKH QPDLLLLRHV PLTRVHLFTA IQLACLGLLW
IIKSTPAAII FPLMLLGLVG VRKALERVFS PQELLWLDEL MPEEERSIPE KGLEPEHSFS
GSDSEDSELM YQPKAPEINI SVN


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