SL9C1_HUMAN
ID SL9C1_HUMAN Reviewed; 1177 AA.
AC Q4G0N8; Q6ZRP4; Q7RTP2;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Sodium/hydrogen exchanger 10;
DE AltName: Full=Na(+)/H(+) exchanger 10;
DE Short=NHE-10;
DE AltName: Full=Solute carrier family 9 member 10;
DE AltName: Full=Solute carrier family 9 member C1;
DE AltName: Full=Sperm-specific Na(+)/H(+) exchanger;
DE Short=sNHE;
GN Name=SLC9C1; Synonyms=SLC9A10;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS VAL-158;
RP VAL-286; MET-348; VAL-364; ALA-424; ILE-705; LYS-732; ILE-768 AND SER-826.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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).
RN [3]
RP IDENTIFICATION.
RX PubMed=12783626; DOI=10.1186/1471-2164-4-22;
RA Oduru S., Campbell J.L., Karri S., Hendry W.J., Khan S.A., Williams S.C.;
RT "Gene discovery in the hamster: a comparative genomics approach for gene
RT annotation by sequencing of hamster testis cDNAs.";
RL BMC Genomics 4:22-22(2003).
CC -!- FUNCTION: Sperm-specific sodium/hydrogen exchanger involved in
CC intracellular pH regulation of spermatozoa. Required for sperm motility
CC and fertility. Involved in sperm cell hyperactivation, a step needed
CC for sperm motility which is essential late in the preparation of sperm
CC for fertilization. Required for the expression and bicarbonate
CC regulation of the soluble adenylyl cyclase (sAC) (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with soluble adenylyl cyclase (sAC). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q4G0N8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4G0N8-2; Sequence=VSP_027010;
CC -!- DOMAIN: The ion transport-like region is related to the membrane
CC segments of voltage-gated ion channels. Its function is unknown (By
CC similarity). {ECO:0000250}.
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=DAA01462.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK128084; BAC87265.1; -; mRNA.
DR EMBL; BC044801; AAH44801.1; -; mRNA.
DR EMBL; BK001328; DAA01462.1; ALT_SEQ; mRNA.
DR CCDS; CCDS33817.1; -. [Q4G0N8-1]
DR CCDS; CCDS82818.1; -. [Q4G0N8-2]
DR RefSeq; NP_001307460.1; NM_001320531.1. [Q4G0N8-2]
DR RefSeq; NP_898884.1; NM_183061.2. [Q4G0N8-1]
DR AlphaFoldDB; Q4G0N8; -.
DR BioGRID; 130083; 2.
DR IntAct; Q4G0N8; 1.
DR STRING; 9606.ENSP00000306627; -.
DR TCDB; 2.A.36.7.5; the monovalent cation:proton antiporter-1 (cpa1) family.
DR GlyGen; Q4G0N8; 1 site.
DR iPTMnet; Q4G0N8; -.
DR PhosphoSitePlus; Q4G0N8; -.
DR BioMuta; SLC9C1; -.
DR DMDM; 158563886; -.
DR EPD; Q4G0N8; -.
DR MassIVE; Q4G0N8; -.
DR PaxDb; Q4G0N8; -.
DR PeptideAtlas; Q4G0N8; -.
DR PRIDE; Q4G0N8; -.
DR ProteomicsDB; 62117; -. [Q4G0N8-1]
DR ProteomicsDB; 62118; -. [Q4G0N8-2]
DR Antibodypedia; 52176; 19 antibodies from 14 providers.
DR DNASU; 285335; -.
DR Ensembl; ENST00000305815.10; ENSP00000306627.5; ENSG00000172139.15. [Q4G0N8-1]
DR Ensembl; ENST00000487372.5; ENSP00000420688.1; ENSG00000172139.15. [Q4G0N8-2]
DR Ensembl; ENST00000642317.2; ENSP00000495147.1; ENSG00000285044.2. [Q4G0N8-1]
DR Ensembl; ENST00000647463.1; ENSP00000495048.1; ENSG00000285044.2. [Q4G0N8-2]
DR GeneID; 285335; -.
DR KEGG; hsa:285335; -.
DR MANE-Select; ENST00000305815.10; ENSP00000306627.5; NM_183061.3; NP_898884.1.
DR UCSC; uc003dyu.4; human. [Q4G0N8-1]
DR CTD; 285335; -.
DR DisGeNET; 285335; -.
DR GeneCards; SLC9C1; -.
DR HGNC; HGNC:31401; SLC9C1.
DR HPA; ENSG00000172139; Group enriched (skin, testis).
DR MIM; 612738; gene.
DR neXtProt; NX_Q4G0N8; -.
DR OpenTargets; ENSG00000172139; -.
DR PharmGKB; PA134914619; -.
DR VEuPathDB; HostDB:ENSG00000172139; -.
DR eggNOG; KOG1965; Eukaryota.
DR GeneTree; ENSGT00940000162055; -.
DR HOGENOM; CLU_003400_1_0_1; -.
DR InParanoid; Q4G0N8; -.
DR OMA; CGNNIFE; -.
DR OrthoDB; 99426at2759; -.
DR PhylomeDB; Q4G0N8; -.
DR TreeFam; TF328865; -.
DR PathwayCommons; Q4G0N8; -.
DR Reactome; R-HSA-2672351; Stimuli-sensing channels.
DR SignaLink; Q4G0N8; -.
DR BioGRID-ORCS; 285335; 9 hits in 1064 CRISPR screens.
DR ChiTaRS; SLC9C1; human.
DR GeneWiki; SLC9A10; -.
DR GenomeRNAi; 285335; -.
DR Pharos; Q4G0N8; Tdark.
DR PRO; PR:Q4G0N8; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q4G0N8; protein.
DR Bgee; ENSG00000172139; Expressed in body of pancreas and 62 other tissues.
DR ExpressionAtlas; Q4G0N8; baseline and differential.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0005216; F:ion channel activity; IEA:InterPro.
DR GO; GO:0015386; F:potassium:proton antiporter activity; IBA:GO_Central.
DR GO; GO:0015385; F:sodium:proton antiporter activity; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
DR GO; GO:0071805; P:potassium ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0051453; P:regulation of intracellular pH; IBA:GO_Central.
DR GO; GO:0098719; P:sodium ion import across plasma membrane; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR CDD; cd00038; CAP_ED; 1.
DR Gene3D; 1.20.120.350; -; 1.
DR Gene3D; 2.60.120.10; -; 1.
DR InterPro; IPR006153; Cation/H_exchanger.
DR InterPro; IPR018422; Cation/H_exchanger_CPA1.
DR InterPro; IPR018490; cNMP-bd-like.
DR InterPro; IPR000595; cNMP-bd_dom.
DR InterPro; IPR005821; Ion_trans_dom.
DR InterPro; IPR028483; N/H_exchanger_10.
DR InterPro; IPR014710; RmlC-like_jellyroll.
DR InterPro; IPR027359; Volt_channel_dom_sf.
DR PANTHER; PTHR10110; PTHR10110; 1.
DR PANTHER; PTHR10110:SF87; PTHR10110:SF87; 1.
DR Pfam; PF00027; cNMP_binding; 1.
DR Pfam; PF00520; Ion_trans; 1.
DR Pfam; PF00999; Na_H_Exchanger; 1.
DR SUPFAM; SSF51206; SSF51206; 1.
DR PROSITE; PS50042; CNMP_BINDING_3; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Antiport; Cell membrane; Cell projection; Cilium;
KW Developmental protein; Differentiation; Flagellum; Glycoprotein;
KW Ion transport; Membrane; Reference proteome; Sodium; Sodium transport;
KW Spermatogenesis; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..1177
FT /note="Sodium/hydrogen exchanger 10"
FT /id="PRO_0000295704"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 39..59
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 73..93
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 103..123
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 138..158
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 167..187
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 204..224
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 248..268
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 301..321
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 333..353
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 364..384
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 405..425
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 613..633
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 646..666
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 675..695
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 707..727
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 598..678
FT /note="Ion transport-like"
FT BINDING 870..1003
FT /ligand="a nucleoside 3',5'-cyclic phosphate"
FT /ligand_id="ChEBI:CHEBI:58464"
FT CARBOHYD 278
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 294..341
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027010"
FT VARIANT 158
FT /note="I -> V (in dbSNP:rs9828502)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033324"
FT VARIANT 286
FT /note="I -> V (in dbSNP:rs9872691)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033325"
FT VARIANT 348
FT /note="I -> M (in dbSNP:rs9809404)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033326"
FT VARIANT 364
FT /note="I -> V (in dbSNP:rs9809384)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_050233"
FT VARIANT 424
FT /note="T -> A (in dbSNP:rs6768523)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033327"
FT VARIANT 705
FT /note="T -> I (in dbSNP:rs4434123)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033328"
FT VARIANT 732
FT /note="Q -> K (in dbSNP:rs6781844)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033329"
FT VARIANT 768
FT /note="S -> I (in dbSNP:rs9288938)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033330"
FT VARIANT 826
FT /note="G -> S (in dbSNP:rs28516377)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_061369"
FT CONFLICT 74
FT /note="M -> I (in Ref. 1; BAC87265)"
FT /evidence="ECO:0000305"
FT CONFLICT 785
FT /note="E -> D (in Ref. 1; BAC87265)"
FT /evidence="ECO:0000305"
FT CONFLICT 788
FT /note="I -> T (in Ref. 1; BAC87265)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1177 AA; 135206 MW; FD04B5B41D0EA2DC CRC64;
MAGIFKEFFF STEDLPEVIL TLSLISSIGA FLNRHLEDFP IPVPVILFLL GCSFEVLSFT
SSQVQRYANA IQWMSPDLFF RIFTPVVFFT TAFDMDTYML QKLFWQILLI SIPGFLVNYI
LVLWHLASVN QLLLKPTQWL LFSAILVSSD PMLTAAAIRD LGLSRSLISL INGESLMTSV
ISLITFTSIM DFDQRLQSKR NHTLAEEIVG GICSYIIASF LFGILSSKLI QFWMSTVFGD
DVNHISLIFS ILYLIFYICE LVGMSGIFTL AIVGLLLNST SFKAAIEETL LLEFWTFLSR
IAFLMVFTFF GLLIPAHTYL YIEFVDIYYS LNIYLTLIVL RFLTLLLISP VLSRVGHEFS
WRWIFIMVCS EMKGMPNINM ALLLAYSDLY FGSDKEKSQI LFHGVLVCLI TLVVNRFILP
VAVTILGLRD ATSTKYKSVC CTFQHFQELT KSAASALKFD KDLANADWNM IEKAITLENP
YMLNEEETTE HQKVKCPHCN KEIDEIFNTE AMELANRRLL SAQIASYQRQ YRNEILSQSA
VQVLVGAAES FGEKKGKCMS LDTIKNYSES QKTVTFARKL LLNWVYNTRK EKEGPSKYFF
FRICHTIVFT EEFEHVGYLV ILMNIFPFII SWISQLNVIY HSELKHTNYC FLTLYILEAL
LKIAAMRKDF FSHAWNIFEL AITLIGILHV ILIEIDTIKY IFNETEVIVF IKVVQFFRIL
RIFKLIAPKL LQIIDKRMSH QKTFWYGILK GYVQGEADIM TIIDQITSSK QIKQMLLKQV
IRNMEHAIKE LGYLEYDHPE IAVTVKTKEE INVMLNMATE ILKAFGLKGI ISKTEGAGIN
KLIMAKKKEV LDSQSIIRPL TVEEVLYHIP WLDKNKDYIN FIQEKAKVVT FDCGNDIFEE
GDEPKGIYII ISGMVKLEKS KPGLGIDQMV ESKEKDFPII DTDYMLSGEI IGEINCLTNE
PMKYSATCKT VVETCFIPKT HLYDAFEQCS PLIKQKMWLK LGLAITARKI REHLSYEDWN
YNMQLKLSNI YVVDIPMSTK TDIYDENLIY VILIHGAVED CLLRKTYRAP FLIPITCHQI
QSIEDFTKVV IIQTPINMKT FRRNIRKFVP KHKSYLTPGL IGSVGTLEEG IQEERNVKED
GAHSAATARS PQPCSLLGTK FNCKESPRIN LRKVRKE
