S4A5_HUMAN
ID S4A5_HUMAN Reviewed; 1137 AA.
AC Q9BY07; Q32MA7; Q59EQ9; Q8WXD3; Q8WXD7; Q96DS7; Q96DS8; Q9HBU5;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Electrogenic sodium bicarbonate cotransporter 4;
DE AltName: Full=NBCe2;
DE AltName: Full=Solute carrier family 4 member 5;
GN Name=SLC4A5 {ECO:0000312|HGNC:HGNC:18168};
GN Synonyms=NBC4 {ECO:0000312|EMBL:AAK26741.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAG18492.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
RC TISSUE=Heart {ECO:0000312|EMBL:AAG18492.1};
RX PubMed=10978526; DOI=10.1016/s0167-4781(00)00149-4;
RA Pushkin A., Abuladze N., Newman D., Lee I., Xu G., Kurtz I.;
RT "Cloning, characterization and chromosomal assignment of NBC4, a new member
RT of the sodium bicarbonate cotransporter family.";
RL Biochim. Biophys. Acta 1493:215-218(2000).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAK26741.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RC TISSUE=Heart {ECO:0000269|PubMed:11087115}, and
RC Testis {ECO:0000312|EMBL:AAK26741.1};
RX PubMed=11087115; DOI=10.1080/15216540050176539;
RA Pushkin A., Abuladze N., Newman D., Lee I., Xu G., Kurtz I.;
RT "Two C-terminal variants of NBC4, a new member of the sodium bicarbonate
RT cotransporter family: cloning, characterization, and localization.";
RL IUBMB Life 50:13-19(2000).
RN [3] {ECO:0000305, ECO:0000312|EMBL:AAK97073.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
RC TISSUE=Testis {ECO:0000312|EMBL:AAK97073.1};
RX PubMed=12063394; DOI=10.1159/000059340;
RA Pushkin A., Abuladze N., Newman D., Tatishchev S., Kurtz I.;
RT "Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and
RT p150(Glued).";
RL Cytogenet. Cell Genet. 95:163-168(2001).
RN [4] {ECO:0000305, ECO:0000312|EMBL:AAK97072.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY, AND
RP INHIBITION.
RC TISSUE=Testis {ECO:0000312|EMBL:AAK97072.1};
RX PubMed=11788353; DOI=10.1152/ajpcell.00409.2001;
RA Sassani P., Pushkin A., Gross E., Gomer A., Abuladze N., Dukkipati R.,
RA Carpenito G., Kurtz I.;
RT "Functional characterization of NBC4: a new electrogenic sodium-bicarbonate
RT cotransporter.";
RL Am. J. Physiol. 282:C408-C416(2002).
RN [5] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, AND INHIBITION.
RX PubMed=11997242; DOI=10.1152/ajpcell.00589.2001;
RA Virkki L.V., Wilson D.A., Vaughan-Jones R.D., Boron W.F.;
RT "Functional characterization of human NBC4 as an electrogenic Na+-HCO
RT cotransporter (NBCe2).";
RL Am. J. Physiol. 282:C1278-C1289(2002).
RN [6] {ECO:0000305, ECO:0000312|EMBL:AAL48291.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM
RP 8), FUNCTION, AND INHIBITION.
RC TISSUE=Liver {ECO:0000269|PubMed:12388414};
RX PubMed=12388414; DOI=10.1152/ajprenal.00055.2002;
RA Xu J., Wang Z., Barone S., Petrovic M., Amlal H., Conforti L., Petrovic S.,
RA Soleimani M.;
RT "Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and
RT characterization of a novel NBC4 variant.";
RL Am. J. Physiol. 284:F41-F50(2003).
RN [7] {ECO:0000305, ECO:0000312|EMBL:EAW99690.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [8] {ECO:0000305, ECO:0000312|EMBL:AAI09222.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [9] {ECO:0000305, ECO:0000312|EMBL:EAW99690.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 88-993 (ISOFORM 5), AND VARIANT
RP TYR-253.
RC TISSUE=Brain {ECO:0000312|EMBL:BAD92989.1};
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.,
RA Ohara O., Nagase T., Kikuno R.F.;
RL Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
RN [10] {ECO:0000305}
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=17715183; DOI=10.1152/ajpregu.00356.2007;
RA Damkier H.H., Nielsen S., Praetorius J.;
RT "Molecular expression of SLC4-derived Na+-dependent anion transporters in
RT selected human tissues.";
RL Am. J. Physiol. 293:R2136-R2146(2007).
CC -!- FUNCTION: Mediates sodium- and bicarbonate-dependent electrogenic
CC sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of
CC 2:1. May have a housekeeping function in regulating the pH of tissues
CC in which it is expressed. May play a role in mediating Na(+):HCO3(-)
CC cotransport in hepatocytes and intrahepatic cholangiocytes. May also be
CC important in protecting the renal paranchyma from alterations in urine
CC pH. {ECO:0000250|UniProtKB:Q6RI88, ECO:0000269|PubMed:11788353,
CC ECO:0000269|PubMed:11997242, ECO:0000269|PubMed:12388414}.
CC -!- ACTIVITY REGULATION: Activity is inhibited by 4,4'-di-
CC isothiocyanatostilbene-2,2'-disulfonic acid (DIDS - an inhibitor of
CC several anion channels and transporters).
CC -!- SUBCELLULAR LOCATION: Apical cell membrane
CC {ECO:0000269|PubMed:17715183}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:17715183}. Note=Expressed in the apical plasma
CC membrane domain of a subset of collecting ducts in the renal medulla.
CC {ECO:0000269|PubMed:17715183}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=8;
CC Name=1 {ECO:0000269|PubMed:11087115}; Synonyms=NBC4a
CC {ECO:0000269|PubMed:11087115};
CC IsoId=Q9BY07-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:10978526, ECO:0000269|PubMed:11087115};
CC Synonyms=NBC4b {ECO:0000269|PubMed:11087115};
CC IsoId=Q9BY07-2; Sequence=VSP_052778;
CC Name=3 {ECO:0000269|PubMed:11788353}; Synonyms=NBC4c
CC {ECO:0000269|PubMed:11788353};
CC IsoId=Q9BY07-3; Sequence=VSP_052776;
CC Name=4 {ECO:0000269|PubMed:12063394}; Synonyms=NBC4d
CC {ECO:0000269|PubMed:12063394};
CC IsoId=Q9BY07-4; Sequence=VSP_052775;
CC Name=5; Synonyms=isoform d variant;
CC IsoId=Q9BY07-5; Sequence=VSP_052771, VSP_052773, VSP_052777;
CC Name=6 {ECO:0000269|PubMed:12388414}; Synonyms=NBC4f
CC {ECO:0000269|PubMed:12388414};
CC IsoId=Q9BY07-6; Sequence=VSP_052772, VSP_052774, VSP_052776,
CC VSP_052778, VSP_052780, VSP_052781;
CC Name=7 {ECO:0000269|PubMed:15489334};
CC IsoId=Q9BY07-7; Sequence=VSP_052770, VSP_052772, VSP_052776;
CC Name=8 {ECO:0000269|PubMed:12388414}; Synonyms=NBC4e
CC {ECO:0000269|PubMed:12388414};
CC IsoId=Q9BY07-8; Sequence=VSP_052779;
CC -!- TISSUE SPECIFICITY: Highest expression observed in liver, spleen and
CC testis; moderate expression in the choroid plexus, hippocampus,
CC cerebrum and cerebellum of brain, and in kidney cortex and kidney
CC medulla. Also observed in heart, pancreas, muscle, lung, placenta,
CC stomach and small intestine. Weakest expression seen in peripheral
CC blood lymphocytes, colon, duodenum, jejunum, ileum and skeletal muscle.
CC {ECO:0000269|PubMed:10978526, ECO:0000269|PubMed:11087115,
CC ECO:0000269|PubMed:11788353, ECO:0000269|PubMed:17715183}.
CC -!- MISCELLANEOUS: [Isoform 5]: Incomplete sequence. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the anion exchanger (TC 2.A.31) family.
CC {ECO:0000255}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG18492.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAL50802.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=EAW99691.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF207661; AAG18492.1; ALT_FRAME; mRNA.
DR EMBL; AF243499; AAK26741.1; -; mRNA.
DR EMBL; AF293338; AAK97073.1; -; mRNA.
DR EMBL; AF293337; AAK97072.1; -; mRNA.
DR EMBL; AF452248; AAL48291.1; -; mRNA.
DR EMBL; AF453528; AAL50802.1; ALT_FRAME; mRNA.
DR EMBL; CH471053; EAW99690.1; -; Genomic_DNA.
DR EMBL; CH471053; EAW99691.1; ALT_FRAME; Genomic_DNA.
DR EMBL; CH471053; EAW99693.1; -; Genomic_DNA.
DR EMBL; BC109221; AAI09222.1; -; mRNA.
DR EMBL; AB209752; BAD92989.1; -; mRNA.
DR CCDS; CCDS1936.1; -. [Q9BY07-1]
DR CCDS; CCDS1937.1; -. [Q9BY07-3]
DR RefSeq; NP_067019.3; NM_021196.3. [Q9BY07-1]
DR RefSeq; NP_597812.1; NM_133478.2. [Q9BY07-3]
DR AlphaFoldDB; Q9BY07; -.
DR SMR; Q9BY07; -.
DR BioGRID; 121791; 3.
DR IntAct; Q9BY07; 2.
DR MINT; Q9BY07; -.
DR STRING; 9606.ENSP00000251768; -.
DR DrugBank; DB01390; Sodium bicarbonate.
DR TCDB; 2.A.31.2.17; the anion exchanger (ae) family.
DR TCDB; 2.A.31.2.8; the anion exchanger (ae) family.
DR GlyConnect; 2038; 1 N-Linked glycan (1 site).
DR GlyGen; Q9BY07; 1 site, 2 N-linked glycans (1 site).
DR iPTMnet; Q9BY07; -.
DR PhosphoSitePlus; Q9BY07; -.
DR BioMuta; SLC4A5; -.
DR DMDM; 182691595; -.
DR MassIVE; Q9BY07; -.
DR MaxQB; Q9BY07; -.
DR PaxDb; Q9BY07; -.
DR PeptideAtlas; Q9BY07; -.
DR PRIDE; Q9BY07; -.
DR ProteomicsDB; 79546; -. [Q9BY07-1]
DR ProteomicsDB; 79547; -. [Q9BY07-2]
DR ProteomicsDB; 79548; -. [Q9BY07-3]
DR ProteomicsDB; 79549; -. [Q9BY07-4]
DR ProteomicsDB; 79550; -. [Q9BY07-5]
DR ProteomicsDB; 79551; -. [Q9BY07-6]
DR ProteomicsDB; 79552; -. [Q9BY07-7]
DR ProteomicsDB; 79553; -. [Q9BY07-8]
DR Antibodypedia; 47475; 73 antibodies from 17 providers.
DR DNASU; 57835; -.
DR Ensembl; ENST00000346834.8; ENSP00000251768.7; ENSG00000188687.17. [Q9BY07-1]
DR Ensembl; ENST00000358683.8; ENSP00000351513.4; ENSG00000188687.17. [Q9BY07-7]
DR Ensembl; ENST00000377632.5; ENSP00000366859.1; ENSG00000188687.17. [Q9BY07-4]
DR Ensembl; ENST00000377634.8; ENSP00000366861.4; ENSG00000188687.17. [Q9BY07-1]
DR Ensembl; ENST00000394019.6; ENSP00000377587.2; ENSG00000188687.17. [Q9BY07-3]
DR Ensembl; ENST00000423644.5; ENSP00000395804.2; ENSG00000188687.17. [Q9BY07-3]
DR GeneID; 57835; -.
DR KEGG; hsa:57835; -.
DR MANE-Select; ENST00000394019.7; ENSP00000377587.2; NM_133478.3; NP_597812.1. [Q9BY07-3]
DR UCSC; uc002skn.3; human. [Q9BY07-1]
DR CTD; 57835; -.
DR DisGeNET; 57835; -.
DR GeneCards; SLC4A5; -.
DR HGNC; HGNC:18168; SLC4A5.
DR HPA; ENSG00000188687; Tissue enhanced (choroid plexus, retina, thyroid gland).
DR MIM; 606757; gene.
DR neXtProt; NX_Q9BY07; -.
DR OpenTargets; ENSG00000188687; -.
DR VEuPathDB; HostDB:ENSG00000188687; -.
DR eggNOG; KOG1172; Eukaryota.
DR GeneTree; ENSGT00940000157488; -.
DR HOGENOM; CLU_002289_5_0_1; -.
DR InParanoid; Q9BY07; -.
DR OMA; WIPSDFY; -.
DR OrthoDB; 265068at2759; -.
DR PhylomeDB; Q9BY07; -.
DR TreeFam; TF313630; -.
DR PathwayCommons; Q9BY07; -.
DR Reactome; R-HSA-425381; Bicarbonate transporters.
DR SignaLink; Q9BY07; -.
DR BioGRID-ORCS; 57835; 105 hits in 1074 CRISPR screens.
DR ChiTaRS; SLC4A5; human.
DR GeneWiki; SLC4A5; -.
DR GenomeRNAi; 57835; -.
DR Pharos; Q9BY07; Tbio.
DR PRO; PR:Q9BY07; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9BY07; protein.
DR Bgee; ENSG00000188687; Expressed in sural nerve and 98 other tissues.
DR ExpressionAtlas; Q9BY07; baseline and differential.
DR Genevisible; Q9BY07; HS.
DR GO; GO:0016324; C:apical plasma membrane; IDA:ARUK-UCL.
DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0015301; F:anion:anion antiporter activity; IEA:UniProtKB-KW.
DR GO; GO:0005452; F:inorganic anion exchanger activity; IEA:InterPro.
DR GO; GO:0008510; F:sodium:bicarbonate symporter activity; IBA:GO_Central.
DR GO; GO:0022857; F:transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0015701; P:bicarbonate transport; IBA:GO_Central.
DR GO; GO:0033326; P:cerebrospinal fluid secretion; IEA:Ensembl.
DR GO; GO:0002064; P:epithelial cell development; IEA:Ensembl.
DR GO; GO:0050801; P:ion homeostasis; IBA:GO_Central.
DR GO; GO:0048311; P:mitochondrion distribution; IEA:Ensembl.
DR GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
DR GO; GO:0051453; P:regulation of intracellular pH; IBA:GO_Central.
DR GO; GO:0003073; P:regulation of systemic arterial blood pressure; IEA:Ensembl.
DR GO; GO:0003014; P:renal system process; IBA:GO_Central.
DR GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
DR GO; GO:0055085; P:transmembrane transport; IBA:GO_Central.
DR Gene3D; 3.40.930.10; -; 1.
DR InterPro; IPR013769; Band3_cytoplasmic_dom.
DR InterPro; IPR011531; HCO3_transpt-like_TM_dom.
DR InterPro; IPR003020; HCO3_transpt_euk.
DR InterPro; IPR003024; Na/HCO3_transpt.
DR InterPro; IPR016152; PTrfase/Anion_transptr.
DR PANTHER; PTHR11453; PTHR11453; 1.
DR Pfam; PF07565; Band_3_cyto; 1.
DR Pfam; PF00955; HCO3_cotransp; 1.
DR PRINTS; PR01231; HCO3TRNSPORT.
DR PRINTS; PR01232; NAHCO3TRSPRT.
DR SUPFAM; SSF55804; SSF55804; 1.
DR TIGRFAMs; TIGR00834; ae; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Anion exchange; Cell membrane; Disulfide bond;
KW Ion transport; Membrane; Reference proteome; Sodium; Sodium transport;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..1137
FT /note="Electrogenic sodium bicarbonate cotransporter 4"
FT /id="PRO_0000328920"
FT TOPO_DOM 1..521
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 522..544
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 545..555
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 556..587
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 588..606
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 607..628
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 629..742
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 743..762
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 763..773
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 774..795
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 796..828
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 829..847
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 848..866
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 867..883
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 884..888
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 889..908
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 909..928
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 929..948
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 949..953
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 954..971
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 972..1016
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 1017..1034
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1035..1039
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1040..1057
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1058..1137
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 64..94
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 221..255
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 438..478
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1079..1137
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..27
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 68..94
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 231..245
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1079..1099
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1112..1137
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT DISULFID 679..681
FT /evidence="ECO:0000250|UniProtKB:Q9Y6R1"
FT DISULFID 725..737
FT /evidence="ECO:0000250|UniProtKB:Q9Y6R1"
FT VAR_SEQ 27..91
FT /note="ECPPIHIGLPVPTYPQRKTDQKGHLSGLQKVHWGLRPDQPQQELTGPGSGAS
FT SQDSSMDLISRTR -> G (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052770"
FT VAR_SEQ 88..91
FT /note="SRTR -> EHKG (in isoform 5)"
FT /evidence="ECO:0000303|Ref.9"
FT /id="VSP_052771"
FT VAR_SEQ 774..811
FT /note="Missing (in isoform 6 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:12388414,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052772"
FT VAR_SEQ 866..993
FT /note="KAAGYHLDLFWVGILMALCSFMGLPWYVAATVISIAHIDSLKMETETSAPGE
FT QPQFLGVREQRVTGIIVFILTGISVFLAPILKCIPLPVLYGVFLYMGVASLNGIQMGTG
FT GSEFKIQKKLTPFWERC -> GTESNRHHRLHPDGNLCLPGSHPKVYPPAGAVRSLPLH
FT GRGLPEWHPVLGTLQALPDASQAPAGPCLPAARAAAPDPPLHPGADPLPGGALDPQIHG
FT GCHHLPGHDPGPHHRSKASGFHLFPARPGLD (in isoform 5)"
FT /evidence="ECO:0000303|Ref.9"
FT /id="VSP_052773"
FT VAR_SEQ 866..924
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:12388414"
FT /id="VSP_052774"
FT VAR_SEQ 950..1046
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:12063394"
FT /id="VSP_052775"
FT VAR_SEQ 973..988
FT /note="Missing (in isoform 3, isoform 6 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:11788353,
FT ECO:0000303|PubMed:11997242, ECO:0000303|PubMed:12388414,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052776"
FT VAR_SEQ 994..1137
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|Ref.9"
FT /id="VSP_052777"
FT VAR_SEQ 1046
FT /note="M -> MSLSTTD (in isoform 2 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:10978526,
FT ECO:0000303|PubMed:11087115, ECO:0000303|PubMed:12388414"
FT /id="VSP_052778"
FT VAR_SEQ 1068..1137
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:12388414"
FT /id="VSP_052779"
FT VAR_SEQ 1071..1075
FT /note="NILPE -> KIEFP (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:12388414"
FT /id="VSP_052780"
FT VAR_SEQ 1076..1137
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:12388414"
FT /id="VSP_052781"
FT VARIANT 251
FT /note="S -> N (in dbSNP:rs17009792)"
FT /id="VAR_048350"
FT VARIANT 253
FT /note="H -> Y (in dbSNP:rs55651232)"
FT /evidence="ECO:0000269|Ref.9"
FT /id="VAR_061032"
FT CONFLICT 612
FT /note="H -> Y (in Ref. 6; AAL48291/AAL50802)"
FT /evidence="ECO:0000305"
FT CONFLICT 699
FT /note="A -> T (in Ref. 6; AAL48291)"
FT /evidence="ECO:0000305"
FT CONFLICT 759
FT /note="L -> R (in Ref. 6; AAL50802)"
FT /evidence="ECO:0000305"
FT CONFLICT 813
FT /note="T -> P (in Ref. 2; AAK26741)"
FT /evidence="ECO:0000305"
FT CONFLICT 896
FT /note="T -> M (in Ref. 6; AAL48291)"
FT /evidence="ECO:0000305"
FT CONFLICT 923
FT /note="G -> R (in Ref. 6; AAL48291)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1137 AA; 126255 MW; ED4E4A4DC2CA17F1 CRC64;
MKVKEEKAGV GKLDHTNHRR RFPDQKECPP IHIGLPVPTY PQRKTDQKGH LSGLQKVHWG
LRPDQPQQEL TGPGSGASSQ DSSMDLISRT RSPAAEQLQD ILGEEDEAPN PTLFTEMDTL
QHDGDQMEWK ESARWIKFEE KVEEGGERWS KPHVSTLSLH SLFELRTCLQ TGTVLLDLDS
GSLPQIIDDV IEKQIEDGLL RPELRERVSY VLLRRHRHQT KKPIHRSLAD IGKSVSTTNR
SPARSPGAGP SLHHSTEDLR MRQSANYGRL CHAQSRSMND ISLTPNTDQR KNKFMKKIPK
DSEASNVLVG EVDFLDQPFI AFVRLIQSAM LGGVTEVPVP TRFLFILLGP SGRAKSYNEI
GRAIATLMVD DLFSDVAYKA RNREDLIAGI DEFLDEVIVL PPGEWDPNIR IEPPKKVPSA
DKRKSVFSLA ELGQMNGSVG GGGGAPGGGN GGGGGGGSGG GAGSGGAGGT SSGDDGEMPA
MHEIGEELIW TGRFFGGLCL DIKRKLPWFP SDFYDGFHIQ SISAILFIYL GCITNAITFG
GLLGDATDNY QGVMESFLGT AMAGSLFCLF SGQPLIILSS TGPILIFEKL LFDFSKGNGL
DYMEFRLWIG LHSAVQCLIL VATDASFIIK YITRFTEEGF STLISFIFIY DAIKKMIGAF
KYYPINMDFK PNFITTYKCE CVAPDTVNTT VFNASAPLAP DTNASLYNLL NLTALDWSLL
SKKECLSYGG RLLGNSCKFI PDLALMSFIL FFGTYSMTLT LKKFKFSRYF PTKVRALVAD
FSIVFSILMF CGIDACFGLE TPKLHVPSVI KPTRPDRGWF VAPFGKNPWW VYPASILPAL
LVTILIFMDQ QITAVIVNRK ENKLKKAAGY HLDLFWVGIL MALCSFMGLP WYVAATVISI
AHIDSLKMET ETSAPGEQPQ FLGVREQRVT GIIVFILTGI SVFLAPILKC IPLPVLYGVF
LYMGVASLNG IQMGTGGSEF KIQKKLTPFW ERCKLFLMPA KHQPDHAFLR HVPLRRIHLF
TLVQILCLAV LWILKSTVAA IIFPVMILGL IIVRRLLDFI FSQHDLAWID NILPEKEKKE
TDKKRKRKKG AHEDCDEEPQ FPPPSVIKIP MESVQSDPQN GIHCIARKRS SSWSYSL
