SPNS3_HUMAN
ID SPNS3_HUMAN Reviewed; 512 AA.
AC Q6ZMD2; Q8IZ31;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Protein spinster homolog 3;
GN Name=SPNS3;
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 VARIANT ARG-293.
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-330.
RC TISSUE=Lymph;
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 [4]
RP IDENTIFICATION.
RX PubMed=17714910; DOI=10.1016/j.ygeno.2007.03.017;
RA Jacobsson J.A., Haitina T., Lindblom J., Fredriksson R.;
RT "Identification of six putative human transporters with structural
RT similarity to the drug transporter SLC22 family.";
RL Genomics 90:595-609(2007).
RN [5]
RP VARIANT [LARGE SCALE ANALYSIS] THR-507.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Sphingolipid transporter. {ECO:0000250}.
CC -!- INTERACTION:
CC Q6ZMD2-2; Q8WVV5: BTN2A2; NbExp=3; IntAct=EBI-17848320, EBI-8648738;
CC Q6ZMD2-2; Q14802-3: FXYD3; NbExp=3; IntAct=EBI-17848320, EBI-12175685;
CC Q6ZMD2-2; Q8N386: LRRC25; NbExp=3; IntAct=EBI-17848320, EBI-11304917;
CC Q6ZMD2-2; P60201-2: PLP1; NbExp=3; IntAct=EBI-17848320, EBI-12188331;
CC Q6ZMD2-2; P02808: STATH; NbExp=3; IntAct=EBI-17848320, EBI-738687;
CC Q6ZMD2-2; P0DN84: STRIT1; NbExp=3; IntAct=EBI-17848320, EBI-12200293;
CC Q6ZMD2-2; O43759-2: SYNGR1; NbExp=3; IntAct=EBI-17848320, EBI-12187159;
CC Q6ZMD2-2; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-17848320, EBI-2852148;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZMD2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZMD2-2; Sequence=VSP_028197, VSP_028198;
CC -!- SIMILARITY: Belongs to the major facilitator superfamily. Spinster (TC
CC 2.A.1.49) family. {ECO:0000305}.
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DR EMBL; AK172832; BAD18797.1; -; mRNA.
DR EMBL; AC116910; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC127521; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC023646; AAH23646.1; -; mRNA.
DR CCDS; CCDS11045.1; -. [Q6ZMD2-1]
DR RefSeq; NP_001307378.1; NM_001320449.1. [Q6ZMD2-2]
DR RefSeq; NP_872344.3; NM_182538.4. [Q6ZMD2-1]
DR AlphaFoldDB; Q6ZMD2; -.
DR SMR; Q6ZMD2; -.
DR BioGRID; 128385; 23.
DR IntAct; Q6ZMD2; 9.
DR STRING; 9606.ENSP00000347721; -.
DR TCDB; 2.A.1.49.12; the major facilitator superfamily (mfs).
DR iPTMnet; Q6ZMD2; -.
DR PhosphoSitePlus; Q6ZMD2; -.
DR BioMuta; SPNS3; -.
DR DMDM; 296452841; -.
DR jPOST; Q6ZMD2; -.
DR MassIVE; Q6ZMD2; -.
DR MaxQB; Q6ZMD2; -.
DR PaxDb; Q6ZMD2; -.
DR PeptideAtlas; Q6ZMD2; -.
DR PRIDE; Q6ZMD2; -.
DR ProteomicsDB; 67865; -. [Q6ZMD2-1]
DR ProteomicsDB; 67866; -. [Q6ZMD2-2]
DR Antibodypedia; 11205; 63 antibodies from 13 providers.
DR DNASU; 201305; -.
DR Ensembl; ENST00000355530.7; ENSP00000347721.2; ENSG00000182557.8. [Q6ZMD2-1]
DR GeneID; 201305; -.
DR KEGG; hsa:201305; -.
DR MANE-Select; ENST00000355530.7; ENSP00000347721.2; NM_182538.5; NP_872344.3.
DR UCSC; uc002fxt.4; human. [Q6ZMD2-1]
DR CTD; 201305; -.
DR DisGeNET; 201305; -.
DR GeneCards; SPNS3; -.
DR HGNC; HGNC:28433; SPNS3.
DR HPA; ENSG00000182557; Tissue enriched (bone).
DR MIM; 611701; gene.
DR neXtProt; NX_Q6ZMD2; -.
DR OpenTargets; ENSG00000182557; -.
DR PharmGKB; PA162404621; -.
DR VEuPathDB; HostDB:ENSG00000182557; -.
DR eggNOG; KOG1330; Eukaryota.
DR GeneTree; ENSGT00390000005976; -.
DR HOGENOM; CLU_001265_5_12_1; -.
DR InParanoid; Q6ZMD2; -.
DR OMA; WHWAFRI; -.
DR OrthoDB; 891881at2759; -.
DR PhylomeDB; Q6ZMD2; -.
DR TreeFam; TF314395; -.
DR PathwayCommons; Q6ZMD2; -.
DR SignaLink; Q6ZMD2; -.
DR BioGRID-ORCS; 201305; 11 hits in 1068 CRISPR screens.
DR GenomeRNAi; 201305; -.
DR Pharos; Q6ZMD2; Tdark.
DR PRO; PR:Q6ZMD2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6ZMD2; protein.
DR Bgee; ENSG00000182557; Expressed in granulocyte and 107 other tissues.
DR ExpressionAtlas; Q6ZMD2; baseline and differential.
DR Genevisible; Q6ZMD2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0022857; F:transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0006869; P:lipid transport; IEA:UniProtKB-KW.
DR CDD; cd17328; MFS_spinster_like; 1.
DR Gene3D; 1.20.1250.20; -; 1.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR044770; MFS_spinster-like.
DR InterPro; IPR036259; MFS_trans_sf.
DR PANTHER; PTHR23505; PTHR23505; 1.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
DR PROSITE; PS50850; MFS; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Lipid transport; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..512
FT /note="Protein spinster homolog 3"
FT /id="PRO_0000305046"
FT TRANSMEM 50..70
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 84..104
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 112..132
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 145..165
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 173..193
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 204..224
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..280
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 309..329
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 343..365
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 377..397
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 411..431
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 450..470
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 481..512
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..127
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028197"
FT VAR_SEQ 128..134
FT /note="SSFISPR -> MLVCFRL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028198"
FT VARIANT 293
FT /note="G -> R (in dbSNP:rs34457931)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_035158"
FT VARIANT 330
FT /note="A -> S (in dbSNP:rs11655342)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035159"
FT VARIANT 507
FT /note="A -> T (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs368604785)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035968"
FT CONFLICT 417
FT /note="D -> G (in Ref. 1; BAD18797)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 512 AA; 54769 MW; CC34E7628A0B4022 CRC64;
MAGGMSAECP EPGPGGLQGQ SPGPGRQCPP PITPTSWSLP PWRAYVAAAV LCYINLLNYM
NWFIIAGVLL DIQEVFQISD NHAGLLQTVF VSCLLLSAPV FGYLGDRHSR KATMSFGILL
WSGAGLSSSF ISPRYSWLFF LSRGIVGTGS ASYSTIAPTV LGDLFVRDQR TRVLAVFYIF
IPVGSGLGYV LGSAVTMLTG NWRWALRVMP CLEAVALILL ILLVPDPPRG AAETQGEGAV
GGFRSSWCED VRYLGKNWSF VWSTLGVTAM AFVTGALGFW APKFLLEARV VHGLQPPCFQ
EPCSNPDSLI FGALTIMTGV IGVILGAEAA RRYKKVIPGA EPLICASSLL ATAPCLYLAL
VLAPTTLLAS YVFLGLGELL LSCNWAVVAD ILLSVVVPRC RGTAEALQIT VGHILGDAGS
PYLTGLISSV LRARRPDSYL QRFRSLQQSF LCCAFVIALG GGCFLLTALY LERDETRAWQ
PVTGTPDSND VDSNDLERQG LLSGAGASTE EP
