S17A9_HUMAN
ID S17A9_HUMAN Reviewed; 436 AA.
AC Q9BYT1; B3KTF2; Q5W198; Q8TB07; Q8TBP4; Q8TEL5; Q9BYT0; Q9BYT2;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2004, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Solute carrier family 17 member 9;
GN Name=SLC17A9; Synonyms=C20orf59;
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 2), FUNCTION, TISSUE SPECIFICITY, AND
RP VARIANT SER-228.
RX PubMed=18375752; DOI=10.1073/pnas.0800141105;
RA Sawada K., Echigo N., Juge N., Miyaji T., Otsuka M., Omote H., Yamamoto A.,
RA Moriyama Y.;
RT "Identification of a vesicular nucleotide transporter.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:5683-5686(2008).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Spleen;
RX PubMed=12693554; DOI=10.1093/dnares/10.1.49;
RA Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N.,
RA Ohara O.;
RT "Characterization of long cDNA clones from human adult spleen. II. The
RT complete sequences of 81 cDNA clones.";
RL DNA Res. 10:49-57(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-228.
RC TISSUE=Neonatal skin;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP SER-228.
RC TISSUE=Kidney;
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 [6]
RP INVOLVEMENT IN POROK8, AND VARIANTS POROK8 CYS-9 AND GLN-311.
RX PubMed=25180256; DOI=10.1136/jmedgenet-2014-102486;
RA Cui H., Li L., Wang W., Shen J., Yue Z., Zheng X., Zuo X., Liang B.,
RA Gao M., Fan X., Yin X., Shen C., Yang C., Zhang C., Zhang X., Sheng Y.,
RA Gao J., Zhu Z., Lin D., Zhang A., Wang Z., Liu S., Sun L., Yang S., Cui Y.,
RA Zhang X.;
RT "Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese
RT pedigrees with disseminated superficial actinic porokeratosis.";
RL J. Med. Genet. 51:699-704(2014).
CC -!- FUNCTION: Involved in vesicular storage and exocytosis of ATP. May
CC accumulate ATP and other nucleotides in secretory vesicles such as
CC adrenal chromaffin granules and synaptic vesicles.
CC {ECO:0000269|PubMed:18375752}.
CC -!- INTERACTION:
CC Q9BYT1; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-3940816, EBI-517508;
CC Q9BYT1; Q96E29: MTERF3; NbExp=3; IntAct=EBI-3940816, EBI-7825321;
CC Q9BYT1; Q9HB07: MYG1; NbExp=3; IntAct=EBI-3940816, EBI-709754;
CC Q9BYT1; P57086: SCAND1; NbExp=3; IntAct=EBI-3940816, EBI-745846;
CC Q9BYT1; Q9H0W8: SMG9; NbExp=3; IntAct=EBI-3940816, EBI-2872322;
CC Q9BYT1; Q9BW92: TARS2; NbExp=3; IntAct=EBI-3940816, EBI-1045099;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BYT1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BYT1-2; Sequence=VSP_010344;
CC Name=3;
CC IsoId=Q9BYT1-3; Sequence=VSP_010345, VSP_010346;
CC -!- TISSUE SPECIFICITY: Predominantly expressed in adrenal gland, brain and
CC thyroid. {ECO:0000269|PubMed:18375752}.
CC -!- DISEASE: Porokeratosis 8, disseminated superficial actinic type
CC (POROK8) [MIM:616063]: A form of porokeratosis, a disorder of faulty
CC keratinization characterized by one or more atrophic patches surrounded
CC by a distinctive hyperkeratotic ridgelike border called the cornoid
CC lamella. The keratotic lesions can progress to overt cutaneous
CC neoplasms, typically squamous cell carcinomas. Multiple clinical
CC variants of porokeratosis are recognized, including porokeratosis of
CC Mibelli, linear porokeratosis, disseminated superficial actinic
CC porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis.
CC Disseminated superficial actinic porokeratosis (DSAP) is the most
CC common subtype. It is characterized by multiple small, annular,
CC anhidrotic, keratotic lesions that are located predominantly on sun-
CC exposed areas of the skin, such as the face, neck, and distal limbs.
CC The lesions typically begin to develop in adolescence and reach near-
CC complete penetrance by the third or fourth decade of life.
CC {ECO:0000269|PubMed:25180256}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the major facilitator superfamily. Sodium/anion
CC cotransporter family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH25312.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB84933.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK074107; BAB84933.1; ALT_INIT; mRNA.
DR EMBL; AK095473; BAG53064.1; -; mRNA.
DR EMBL; AL121673; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025312; AAH25312.1; ALT_SEQ; mRNA.
DR EMBL; BC027447; AAH27447.1; -; mRNA.
DR EMBL; BC038593; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS42901.1; -. [Q9BYT1-1]
DR CCDS; CCDS77600.1; -. [Q9BYT1-2]
DR RefSeq; NP_001289572.1; NM_001302643.1. [Q9BYT1-2]
DR RefSeq; NP_071365.3; NM_022082.3. [Q9BYT1-1]
DR AlphaFoldDB; Q9BYT1; -.
DR SMR; Q9BYT1; -.
DR BioGRID; 121984; 7.
DR IntAct; Q9BYT1; 7.
DR STRING; 9606.ENSP00000359376; -.
DR GuidetoPHARMACOLOGY; 1010; -.
DR TCDB; 2.A.1.14.21; the major facilitator superfamily (mfs).
DR iPTMnet; Q9BYT1; -.
DR PhosphoSitePlus; Q9BYT1; -.
DR BioMuta; SLC17A9; -.
DR DMDM; 47605540; -.
DR MaxQB; Q9BYT1; -.
DR PaxDb; Q9BYT1; -.
DR PeptideAtlas; Q9BYT1; -.
DR PRIDE; Q9BYT1; -.
DR ProteomicsDB; 79701; -. [Q9BYT1-1]
DR ProteomicsDB; 79702; -. [Q9BYT1-2]
DR Antibodypedia; 66400; 22 antibodies from 9 providers.
DR DNASU; 63910; -.
DR Ensembl; ENST00000370349.7; ENSP00000359374.3; ENSG00000101194.18. [Q9BYT1-2]
DR Ensembl; ENST00000370351.9; ENSP00000359376.4; ENSG00000101194.18. [Q9BYT1-1]
DR GeneID; 63910; -.
DR KEGG; hsa:63910; -.
DR MANE-Select; ENST00000370351.9; ENSP00000359376.4; NM_022082.4; NP_071365.4.
DR UCSC; uc002ydz.5; human. [Q9BYT1-1]
DR CTD; 63910; -.
DR DisGeNET; 63910; -.
DR GeneCards; SLC17A9; -.
DR HGNC; HGNC:16192; SLC17A9.
DR HPA; ENSG00000101194; Tissue enhanced (liver).
DR MalaCards; SLC17A9; -.
DR MIM; 612107; gene.
DR MIM; 616063; phenotype.
DR neXtProt; NX_Q9BYT1; -.
DR OpenTargets; ENSG00000101194; -.
DR Orphanet; 79152; Disseminated superficial actinic porokeratosis.
DR PharmGKB; PA164725806; -.
DR VEuPathDB; HostDB:ENSG00000101194; -.
DR eggNOG; KOG2532; Eukaryota.
DR GeneTree; ENSGT00940000158186; -.
DR HOGENOM; CLU_001265_5_11_1; -.
DR InParanoid; Q9BYT1; -.
DR OMA; CINVLTY; -.
DR OrthoDB; 840295at2759; -.
DR PhylomeDB; Q9BYT1; -.
DR TreeFam; TF313341; -.
DR PathwayCommons; Q9BYT1; -.
DR SignaLink; Q9BYT1; -.
DR BioGRID-ORCS; 63910; 14 hits in 1066 CRISPR screens.
DR ChiTaRS; SLC17A9; human.
DR GenomeRNAi; 63910; -.
DR Pharos; Q9BYT1; Tchem.
DR PRO; PR:Q9BYT1; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BYT1; protein.
DR Bgee; ENSG00000101194; Expressed in right lobe of liver and 128 other tissues.
DR ExpressionAtlas; Q9BYT1; baseline and differential.
DR Genevisible; Q9BYT1; HS.
DR GO; GO:0042584; C:chromaffin granule membrane; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015217; F:ADP transmembrane transporter activity; IMP:MGI.
DR GO; GO:0005347; F:ATP transmembrane transporter activity; IDA:MGI.
DR GO; GO:0001409; F:guanine nucleotide transmembrane transporter activity; IMP:MGI.
DR GO; GO:0015866; P:ADP transport; IMP:MGI.
DR GO; GO:1904669; P:ATP export; IEA:Ensembl.
DR GO; GO:0015867; P:ATP transport; IDA:MGI.
DR GO; GO:0006887; P:exocytosis; IEA:UniProtKB-KW.
DR GO; GO:1903790; P:guanine nucleotide transmembrane transport; IMP:MGI.
DR CDD; cd17380; MFS_SLC17A9_like; 1.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR036259; MFS_trans_sf.
DR InterPro; IPR044777; SLC17A9-like.
DR InterPro; IPR005829; Sugar_transporter_CS.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
DR PROSITE; PS50850; MFS; 1.
DR PROSITE; PS00217; SUGAR_TRANSPORT_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Exocytosis; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..436
FT /note="Solute carrier family 17 member 9"
FT /id="PRO_0000084849"
FT TRANSMEM 64..84
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 118..138
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 158..178
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 181..201
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 239..259
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 276..296
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 316..336
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 369..389
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 402..422
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..19
FT /note="MQPPPDEARRDMAGDTQWS -> MTLTSRRQDSQEA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:18375752"
FT /id="VSP_010344"
FT VAR_SEQ 210..216
FT /note="DLILALG -> GNAGRAG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_010345"
FT VAR_SEQ 217..436
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12693554"
FT /id="VSP_010346"
FT VARIANT 9
FT /note="R -> C (in POROK8; dbSNP:rs548728088)"
FT /evidence="ECO:0000269|PubMed:25180256"
FT /id="VAR_071983"
FT VARIANT 228
FT /note="N -> S (in dbSNP:rs2427463)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18375752"
FT /id="VAR_055326"
FT VARIANT 311
FT /note="R -> Q (in POROK8; dbSNP:rs606231251)"
FT /evidence="ECO:0000269|PubMed:25180256"
FT /id="VAR_071984"
FT VARIANT 397
FT /note="T -> M (in dbSNP:rs7271712)"
FT /id="VAR_056128"
FT CONFLICT 395
FT /note="E -> K (in Ref. 1)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 436 AA; 47482 MW; FE9E065E0A76A94A CRC64;
MQPPPDEARR DMAGDTQWSR PECQAWTGTL LLGTCLLYCA RSSMPICTVS MSQDFGWNKK
EAGIVLSSFF WGYCLTQVVG GHLGDRIGGE KVILLSASAW GSITAVTPLL AHLSSAHLAF
MTFSRILMGL LQGVYFPALT SLLSQKVRES ERAFTYSIVG AGSQFGTLLT GAVGSLLLEW
YGWQSIFYFS GGLTLLWVWY VYRYLLSEKD LILALGVLAQ SRPVSRHNRV PWRRLFRKPA
VWAAVVSQLS AACSFFILLS WLPTFFEETF PDAKGWIFNV VPWLVAIPAS LFSGFLSDHL
INQGYRAITV RKLMQGMGLG LSSVFALCLG HTSSFCESVV FASASIGLQT FNHSGISVNI
QDLAPSCAGF LFGVANTAGA LAGVVGVCLG GYLMETTGSW TCLFNLVAII SNLGLCTFLV
FGQAQRVDLS STHEDL
