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Sodium/hydrogen exchanger 10 (Na( )/H( ) exchanger 10) (NHE-10) (Solute carrier family 9 member 10) (Solute carrier family 9 member C1) (Sperm-specific Na( )/H( ) exchanger) (sNHE)

 SL9C1_HUMAN             Reviewed;        1177 AA.
Q4G0N8; Q6ZRP4; Q7RTP2;
24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
24-JUL-2007, sequence version 2.
12-SEP-2018, entry version 111.
RecName: Full=Sodium/hydrogen exchanger 10;
AltName: Full=Na(+)/H(+) exchanger 10;
Short=NHE-10;
AltName: Full=Solute carrier family 9 member 10;
AltName: Full=Solute carrier family 9 member C1;
AltName: Full=Sperm-specific Na(+)/H(+) exchanger;
Short=sNHE;
Name=SLC9C1; Synonyms=SLC9A10;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
VAL-158; VAL-286; MET-348; VAL-364; ALA-424; ILE-705; LYS-732; ILE-768
AND SER-826.
TISSUE=Testis;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=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).
[3]
IDENTIFICATION.
PubMed=12783626; DOI=10.1186/1471-2164-4-22;
Oduru S., Campbell J.L., Karri S., Hendry W.J., Khan S.A.,
Williams S.C.;
"Gene discovery in the hamster: a comparative genomics approach for
gene annotation by sequencing of hamster testis cDNAs.";
BMC Genomics 4:22-22(2003).
-!- FUNCTION: Sperm-specific sodium/hydrogen exchanger involved in
intracellular pH regulation of spermatozoa. Required for sperm
motility and fertility. Involved in sperm cell hyperactivation, a
step needed for sperm motility which is essential late in the
preparation of sperm for fertilization. Required for the
expression and bicarbonate regulation of the soluble adenylyl
cyclase (sAC) (By similarity). {ECO:0000250}.
-!- SUBUNIT: Interacts with soluble adenylyl cyclase (sAC).
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
{ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=Q4G0N8-1; Sequence=Displayed;
Name=2;
IsoId=Q4G0N8-2; Sequence=VSP_027010;
Note=No experimental confirmation available.;
-!- DOMAIN: The ion transport-like region is related to the membrane
segments of voltage-gated ion channels. Its function is unknown
(By similarity). {ECO:0000250}.
-!- SIMILARITY: Belongs to the monovalent cation:proton antiporter 1
(CPA1) transporter (TC 2.A.36) family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=DAA01462.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AK128084; BAC87265.1; -; mRNA.
EMBL; BC044801; AAH44801.1; -; mRNA.
EMBL; BK001328; DAA01462.1; ALT_SEQ; mRNA.
CCDS; CCDS33817.1; -. [Q4G0N8-1]
CCDS; CCDS82818.1; -. [Q4G0N8-2]
RefSeq; NP_001307460.1; NM_001320531.1. [Q4G0N8-2]
RefSeq; NP_898884.1; NM_183061.2. [Q4G0N8-1]
UniGene; Hs.680112; -.
ProteinModelPortal; Q4G0N8; -.
BioGrid; 130083; 1.
IntAct; Q4G0N8; 1.
STRING; 9606.ENSP00000306627; -.
TCDB; 2.A.36.7.5; the monovalent cation:proton antiporter-1 (cpa1) family.
iPTMnet; Q4G0N8; -.
PhosphoSitePlus; Q4G0N8; -.
BioMuta; SLC9C1; -.
DMDM; 158563886; -.
PaxDb; Q4G0N8; -.
PeptideAtlas; Q4G0N8; -.
PRIDE; Q4G0N8; -.
ProteomicsDB; 62117; -.
ProteomicsDB; 62118; -. [Q4G0N8-2]
Ensembl; ENST00000305815; ENSP00000306627; ENSG00000172139. [Q4G0N8-1]
Ensembl; ENST00000487372; ENSP00000420688; ENSG00000172139. [Q4G0N8-2]
Ensembl; ENST00000642317; ENSP00000495147; ENSG00000285044. [Q4G0N8-1]
Ensembl; ENST00000647463; ENSP00000495048; ENSG00000285044. [Q4G0N8-2]
GeneID; 285335; -.
KEGG; hsa:285335; -.
UCSC; uc003dyu.4; human. [Q4G0N8-1]
CTD; 285335; -.
DisGeNET; 285335; -.
EuPathDB; HostDB:ENSG00000172139.14; -.
GeneCards; SLC9C1; -.
H-InvDB; HIX0200547; -.
HGNC; HGNC:31401; SLC9C1.
MIM; 612738; gene.
neXtProt; NX_Q4G0N8; -.
OpenTargets; ENSG00000172139; -.
PharmGKB; PA134914619; -.
eggNOG; KOG1965; Eukaryota.
eggNOG; COG0025; LUCA.
GeneTree; ENSGT00530000063840; -.
HOGENOM; HOG000169764; -.
HOVERGEN; HBG071202; -.
InParanoid; Q4G0N8; -.
KO; K14726; -.
OMA; ASYQRQY; -.
OrthoDB; EOG091G031U; -.
PhylomeDB; Q4G0N8; -.
TreeFam; TF328865; -.
Reactome; R-HSA-2672351; Stimuli-sensing channels.
ChiTaRS; SLC9C1; human.
GeneWiki; SLC9A10; -.
GenomeRNAi; 285335; -.
PRO; PR:Q4G0N8; -.
Proteomes; UP000005640; Chromosome 3.
Bgee; ENSG00000172139; Expressed in 49 organ(s), highest expression level in testis.
CleanEx; HS_SLC9A10; -.
ExpressionAtlas; Q4G0N8; baseline and differential.
GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
GO; GO:0031514; C:motile cilium; IEA:UniProtKB-KW.
GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
GO; GO:0005216; F:ion channel activity; IEA:InterPro.
GO; GO:0015386; F:potassium:proton antiporter activity; IBA:GO_Central.
GO; GO:0015385; F:sodium:proton antiporter activity; IBA:GO_Central.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0030317; P:flagellated sperm motility; IEA:Ensembl.
GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW.
GO; GO:0071805; P:potassium ion transmembrane transport; IBA:GO_Central.
GO; GO:0051453; P:regulation of intracellular pH; IBA:GO_Central.
GO; GO:0098719; P:sodium ion import across plasma membrane; IBA:GO_Central.
GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
CDD; cd00038; CAP_ED; 1.
Gene3D; 1.20.120.350; -; 1.
Gene3D; 2.60.120.10; -; 1.
InterPro; IPR006153; Cation/H_exchanger.
InterPro; IPR018422; Cation/H_exchanger_CPA1.
InterPro; IPR018490; cNMP-bd-like.
InterPro; IPR000595; cNMP-bd_dom.
InterPro; IPR005821; Ion_trans_dom.
InterPro; IPR028483; N/H_exchanger_10.
InterPro; IPR014710; RmlC-like_jellyroll.
InterPro; IPR027359; Volt_channel_dom_sf.
PANTHER; PTHR10110; PTHR10110; 1.
PANTHER; PTHR10110:SF87; PTHR10110:SF87; 1.
Pfam; PF00027; cNMP_binding; 1.
Pfam; PF00520; Ion_trans; 1.
Pfam; PF00999; Na_H_Exchanger; 1.
SUPFAM; SSF51206; SSF51206; 1.
PROSITE; PS50042; CNMP_BINDING_3; 1.
2: Evidence at transcript level;
Alternative splicing; Antiport; Cell membrane; Cell projection;
Cilium; Complete proteome; Developmental protein; Differentiation;
Flagellum; Glycoprotein; Ion transport; Membrane; Polymorphism;
Reference proteome; Sodium; Sodium transport; Spermatogenesis;
Transmembrane; Transmembrane helix; Transport.
CHAIN 1 1177 Sodium/hydrogen exchanger 10.
/FTId=PRO_0000295704.
TRANSMEM 8 28 Helical. {ECO:0000255}.
TRANSMEM 39 59 Helical. {ECO:0000255}.
TRANSMEM 73 93 Helical. {ECO:0000255}.
TRANSMEM 103 123 Helical. {ECO:0000255}.
TRANSMEM 138 158 Helical. {ECO:0000255}.
TRANSMEM 167 187 Helical. {ECO:0000255}.
TRANSMEM 204 224 Helical. {ECO:0000255}.
TRANSMEM 248 268 Helical. {ECO:0000255}.
TRANSMEM 301 321 Helical. {ECO:0000255}.
TRANSMEM 333 353 Helical. {ECO:0000255}.
TRANSMEM 364 384 Helical. {ECO:0000255}.
TRANSMEM 405 425 Helical. {ECO:0000255}.
TRANSMEM 613 633 Helical. {ECO:0000255}.
TRANSMEM 646 666 Helical. {ECO:0000255}.
TRANSMEM 675 695 Helical. {ECO:0000255}.
TRANSMEM 707 727 Helical. {ECO:0000255}.
NP_BIND 870 1003 cNMP.
REGION 598 678 Ion transport-like.
CARBOHYD 278 278 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 294 341 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_027010.
VARIANT 158 158 I -> V (in dbSNP:rs9828502).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033324.
VARIANT 286 286 I -> V (in dbSNP:rs9872691).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033325.
VARIANT 348 348 I -> M (in dbSNP:rs9809404).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033326.
VARIANT 364 364 I -> V (in dbSNP:rs9809384).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_050233.
VARIANT 424 424 T -> A (in dbSNP:rs6768523).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033327.
VARIANT 705 705 T -> I (in dbSNP:rs4434123).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033328.
VARIANT 732 732 Q -> K (in dbSNP:rs6781844).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033329.
VARIANT 768 768 S -> I (in dbSNP:rs9288938).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_033330.
VARIANT 826 826 G -> S (in dbSNP:rs28516377).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_061369.
CONFLICT 74 74 M -> I (in Ref. 1; BAC87265).
{ECO:0000305}.
CONFLICT 785 785 E -> D (in Ref. 1; BAC87265).
{ECO:0000305}.
CONFLICT 788 788 I -> T (in Ref. 1; BAC87265).
{ECO:0000305}.
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


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