SL9B1_HUMAN
ID SL9B1_HUMAN Reviewed; 515 AA.
AC Q4ZJI4; A1KXV1; B9EH04; C9JBP7; Q49A30; Q8NCV2; Q8WVZ0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Sodium/hydrogen exchanger 9B1;
DE AltName: Full=Na(+)/H(+) exchanger-like domain-containing protein 1;
DE Short=NHE domain-containing protein 1;
DE AltName: Full=Sodium/hydrogen exchanger-like domain-containing protein 1 {ECO:0000303|PubMed:16850186};
DE AltName: Full=Solute carrier family 9, subfamily B member 1;
GN Name=SLC9B1 {ECO:0000312|HGNC:HGNC:24244};
GN Synonyms=NHA1 {ECO:0000312|HGNC:HGNC:24244},
GN NHEDC1 {ECO:0000303|PubMed:16850186};
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]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANT
RP HIS-33.
RC TISSUE=Testis;
RX PubMed=16850186; DOI=10.1007/s11033-006-0010-y;
RA Ye G.M., Chen C., Han D., Xiong X., Kong Y., Wan B., Yu L.;
RT "Cloning of a novel human NHEDC1 (Na+/H+ exchanger like domain containing
RT 1) gene expressed specifically in testis.";
RL Mol. Biol. Rep. 33:175-180(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT HIS-33.
RC TISSUE=Testis;
RA Guo J.H., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT HIS-33.
RA Li X., Xie Y., Mao Y.;
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT HIS-33.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4), AND VARIANT
RP HIS-33.
RC TISSUE=Brain, and Testis;
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).
CC -!- FUNCTION: Sperm-specific Na(+)/H(+) exchanger involved in intracellular
CC pH regulation of spermatozoa. Involved in sperm motility and fertility.
CC {ECO:0000250|UniProtKB:Q8C0X2}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250|UniProtKB:Q8C0X2}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q4ZJI4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4ZJI4-2; Sequence=VSP_030175, VSP_030180;
CC Name=3;
CC IsoId=Q4ZJI4-3; Sequence=VSP_030180;
CC Name=4;
CC IsoId=Q4ZJI4-5; Sequence=VSP_030176, VSP_030177;
CC -!- TISSUE SPECIFICITY: Expressed only in the testis.
CC {ECO:0000269|PubMed:16850186}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the monovalent cation:proton antiporter 1 (CPA1)
CC transporter (TC 2.A.36) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAM22868.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; DQ003059; AAY21808.1; -; mRNA.
DR EMBL; AF447585; AAM22868.1; ALT_FRAME; mRNA.
DR EMBL; AY461581; AAS91021.1; -; mRNA.
DR EMBL; AC018797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC083826; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX06152.1; -; Genomic_DNA.
DR EMBL; BC022079; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC046636; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC110794; AAI10795.1; -; mRNA.
DR EMBL; BC132712; AAI32713.1; -; mRNA.
DR EMBL; BC136966; AAI36967.1; -; mRNA.
DR CCDS; CCDS34041.1; -. [Q4ZJI4-1]
DR CCDS; CCDS47119.1; -. [Q4ZJI4-3]
DR RefSeq; NP_001094344.1; NM_001100874.2. [Q4ZJI4-3]
DR RefSeq; NP_631912.2; NM_139173.3. [Q4ZJI4-1]
DR RefSeq; XP_006714156.1; XM_006714093.3.
DR RefSeq; XP_011529924.1; XM_011531622.1.
DR RefSeq; XP_011529925.1; XM_011531623.1.
DR AlphaFoldDB; Q4ZJI4; -.
DR SMR; Q4ZJI4; -.
DR STRING; 9606.ENSP00000296422; -.
DR TCDB; 2.A.36.2.3; the monovalent cation:proton antiporter-1 (cpa1) family.
DR iPTMnet; Q4ZJI4; -.
DR PhosphoSitePlus; Q4ZJI4; -.
DR BioMuta; SLC9B1; -.
DR DMDM; 296439240; -.
DR MassIVE; Q4ZJI4; -.
DR PaxDb; Q4ZJI4; -.
DR PeptideAtlas; Q4ZJI4; -.
DR PRIDE; Q4ZJI4; -.
DR ProteomicsDB; 62386; -. [Q4ZJI4-1]
DR ProteomicsDB; 62388; -. [Q4ZJI4-3]
DR ProteomicsDB; 62389; -. [Q4ZJI4-5]
DR Antibodypedia; 26068; 92 antibodies from 20 providers.
DR DNASU; 150159; -.
DR Ensembl; ENST00000296422.12; ENSP00000296422.7; ENSG00000164037.17. [Q4ZJI4-1]
DR Ensembl; ENST00000394789.7; ENSP00000378269.3; ENSG00000164037.17. [Q4ZJI4-3]
DR Ensembl; ENST00000503584.5; ENSP00000426926.1; ENSG00000164037.17. [Q4ZJI4-5]
DR Ensembl; ENST00000510243.5; ENSP00000425913.1; ENSG00000164037.17. [Q4ZJI4-5]
DR GeneID; 150159; -.
DR KEGG; hsa:150159; -.
DR MANE-Select; ENST00000296422.12; ENSP00000296422.7; NM_139173.4; NP_631912.3.
DR UCSC; uc003hwu.4; human. [Q4ZJI4-1]
DR CTD; 150159; -.
DR DisGeNET; 150159; -.
DR GeneCards; SLC9B1; -.
DR HGNC; HGNC:24244; SLC9B1.
DR HPA; ENSG00000164037; Tissue enriched (testis).
DR MalaCards; SLC9B1; -.
DR MIM; 611527; gene.
DR neXtProt; NX_Q4ZJI4; -.
DR OpenTargets; ENSG00000164037; -.
DR PharmGKB; PA162397486; -.
DR VEuPathDB; HostDB:ENSG00000164037; -.
DR eggNOG; KOG3826; Eukaryota.
DR GeneTree; ENSGT00390000013285; -.
DR HOGENOM; CLU_201317_0_0_1; -.
DR InParanoid; Q4ZJI4; -.
DR OMA; VPMKRAF; -.
DR OrthoDB; 833306at2759; -.
DR PhylomeDB; Q4ZJI4; -.
DR TreeFam; TF319087; -.
DR PathwayCommons; Q4ZJI4; -.
DR Reactome; R-HSA-2672351; Stimuli-sensing channels.
DR BioGRID-ORCS; 150159; 370 hits in 998 CRISPR screens.
DR ChiTaRS; SLC9B1; human.
DR GenomeRNAi; 150159; -.
DR Pharos; Q4ZJI4; Tbio.
DR PRO; PR:Q4ZJI4; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q4ZJI4; protein.
DR Bgee; ENSG00000164037; Expressed in sperm and 94 other tissues.
DR ExpressionAtlas; Q4ZJI4; baseline and differential.
DR Genevisible; Q4ZJI4; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0097228; C:sperm principal piece; ISS:UniProtKB.
DR GO; GO:0015385; F:sodium:proton antiporter activity; TAS:Reactome.
DR GO; GO:0030317; P:flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0034220; P:ion transmembrane transport; TAS:Reactome.
DR GO; GO:0051453; P:regulation of intracellular pH; ISS:UniProtKB.
DR GO; GO:0007338; P:single fertilization; IEA:UniProtKB-KW.
DR Gene3D; 1.20.1530.20; -; 1.
DR InterPro; IPR006153; Cation/H_exchanger.
DR InterPro; IPR038770; Na+/solute_symporter_sf.
DR InterPro; IPR030187; SLC9B1.
DR PANTHER; PTHR31102:SF5; PTHR31102:SF5; 1.
DR Pfam; PF00999; Na_H_Exchanger; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Antiport; Cell membrane; Cell projection; Cilium;
KW Fertilization; Flagellum; Ion transport; Membrane; Reference proteome;
KW Sodium; Sodium transport; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..515
FT /note="Sodium/hydrogen exchanger 9B1"
FT /id="PRO_0000314007"
FT TRANSMEM 66..86
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 95..115
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 152..172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 215..235
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..280
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 284..304
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 337..357
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 368..388
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 407..427
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 431..451
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 472..492
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..32
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..232
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030175"
FT VAR_SEQ 71..73
FT /note="GVI -> VLF (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030176"
FT VAR_SEQ 74..515
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030177"
FT VAR_SEQ 445..515
FT /note="AVLGPLALETARVSAPHLEPYAKDVMTVAFLAILITAPNGALLMGILGPKML
FT TRHYDPSKIKLQLSTLEHH -> INQAILLLFLLREEWTNCKVAKKCEYTKERQ (in
FT isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.3"
FT /id="VSP_030180"
FT VARIANT 33
FT /note="Q -> H (in dbSNP:rs2715591)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:16850186, ECO:0000269|Ref.2,
FT ECO:0000269|Ref.3, ECO:0000269|Ref.5"
FT /id="VAR_061370"
FT CONFLICT 292
FT /note="I -> T (in Ref. 3; AAS91021)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 515 AA; 56054 MW; 37E89E22A8A910E5 CRC64;
MHTTESKNEH LEDENFQTST TPQSLIDPNN TAQEETKTVL SDTEEIKPQT KKETYISCPL
RGVLNVIITN GVILFVIWCM TWSILGSEAL PGGNLFGLFI IFYSAIIGGK ILQLIRIPLV
PPLPPLLGML LAGFTIRNVP FINEHVHVPN TWSSILRSIA LTIILIRAGL GLDPQALRHL
KVVCFRLAVG PCLMEASAAA VFSHFIMKFP WQWAFLLGFV LGAVSPAVVV PYMMVLQENG
YGVEEGIPTL LMAASSMDDI LAITGFNTCL SIVFSSGGIL NNAIASIRNV CISLLAGIVL
GFFVRYFPSE DQKKLTLKRG FLVLTMCVSA VLGSQRIGLH GSGGLCTLVL SFIAGTKWSQ
EKMKVQKIIT TVWDIFQPLL FGLVGAEVSV SSLESNIVGI SVATLSLALC VRILTTYLLM
CFAGFSFKEK IFIALAWMPK ATVQAVLGPL ALETARVSAP HLEPYAKDVM TVAFLAILIT
APNGALLMGI LGPKMLTRHY DPSKIKLQLS TLEHH
