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 02-OCT-2024, entry version 149. 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}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 BioGRID; 127264; 1. DR IntAct; Q4ZJI4; 1. DR MINT; Q4ZJI4; -. DR STRING; 9606.ENSP00000296422; -. DR TCDB; 2.A.36.2.3; the monovalent cation:proton antiporter-1 (cpa1) family. DR GlyGen; Q4ZJI4; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q4ZJI4; -. DR PhosphoSitePlus; Q4ZJI4; -. DR BioMuta; SLC9B1; -. DR DMDM; 296439240; -. DR MassIVE; Q4ZJI4; -. DR PaxDb; 9606-ENSP00000296422; -. DR PeptideAtlas; Q4ZJI4; -. DR ProteomicsDB; 62386; -. [Q4ZJI4-1] DR ProteomicsDB; 62387; -. [Q4ZJI4-2] DR ProteomicsDB; 62388; -. [Q4ZJI4-3] DR ProteomicsDB; 62389; -. [Q4ZJI4-5] DR Antibodypedia; 26068; 101 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 AGR; HGNC:24244; -. 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; ICVATMS; -. DR OrthoDB; 3228646at2759; -. DR PhylomeDB; Q4ZJI4; -. DR TreeFam; TF319087; -. DR PathwayCommons; Q4ZJI4; -. DR Reactome; R-HSA-2672351; Stimuli-sensing channels. DR BioGRID-ORCS; 150159; 372 hits in 1059 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 96 other cell types or tissues. DR ExpressionAtlas; Q4ZJI4; baseline and differential. 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:0098662; P:inorganic cation transmembrane transport; IBA:GO_Central. DR GO; GO:0034220; P:monoatomic 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; IPR051843; CPA1_transporter. DR InterPro; IPR038770; Na+/solute_symporter_sf. DR PANTHER; PTHR31102; -; 1. DR PANTHER; PTHR31102:SF5; SLC9B1-LIKE PROTEIN SLC9B1P1-RELATED; 1. DR Pfam; PF00999; Na_H_Exchanger; 1. PE 1: Evidence at protein level; KW Alternative splicing; Antiport; Cell membrane; Cell projection; Cilium; KW Fertilization; Flagellum; Ion transport; Membrane; KW Proteomics identification; Reference proteome; Sodium; Sodium transport; KW 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 //