S66A2_HUMAN
ID S66A2_HUMAN Reviewed; 271 AA.
AC Q8N2U9; B7Z7D9; G5E989; Q9H6D0;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Solute carrier family 66 member 2 {ECO:0000305};
DE AltName: Full=PQ-loop repeat-containing protein 1;
GN Name=SLC66A2 {ECO:0000312|HGNC:HGNC:26188}; Synonyms=PQLC1 {ECO:0000305};
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 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 67-271 (ISOFORM 2).
RC TISSUE=Kidney, and 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 GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [6]
RP VARIANT [LARGE SCALE ANALYSIS] ALA-175.
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 -!- INTERACTION:
CC Q8N2U9; Q13520: AQP6; NbExp=3; IntAct=EBI-3907610, EBI-13059134;
CC Q8N2U9; Q8NFU1: BEST2; NbExp=3; IntAct=EBI-3907610, EBI-19947314;
CC Q8N2U9; P11912: CD79A; NbExp=3; IntAct=EBI-3907610, EBI-7797864;
CC Q8N2U9; P51798: CLCN7; NbExp=3; IntAct=EBI-3907610, EBI-4402346;
CC Q8N2U9; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-3907610, EBI-517508;
CC Q8N2U9; P23142-4: FBLN1; NbExp=3; IntAct=EBI-3907610, EBI-11956479;
CC Q8N2U9; Q9BWH2: FUNDC2; NbExp=3; IntAct=EBI-3907610, EBI-714482;
CC Q8N2U9; P48165: GJA8; NbExp=3; IntAct=EBI-3907610, EBI-17458373;
CC Q8N2U9; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-3907610, EBI-13345167;
CC Q8N2U9; Q13651: IL10RA; NbExp=3; IntAct=EBI-3907610, EBI-1031656;
CC Q8N2U9; O95279: KCNK5; NbExp=3; IntAct=EBI-3907610, EBI-3934936;
CC Q8N2U9; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-3907610, EBI-373355;
CC Q8N2U9; A0A0C4DFN3: MGLL; NbExp=3; IntAct=EBI-3907610, EBI-12866138;
CC Q8N2U9; Q8TEB9: RHBDD1; NbExp=3; IntAct=EBI-3907610, EBI-9916444;
CC Q8N2U9; Q14973: SLC10A1; NbExp=3; IntAct=EBI-3907610, EBI-3923031;
CC Q8N2U9; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-3907610, EBI-18159983;
CC Q8N2U9; Q96AG3: SLC25A46; NbExp=3; IntAct=EBI-3907610, EBI-10281975;
CC Q8N2U9; Q7Z769: SLC35E3; NbExp=3; IntAct=EBI-3907610, EBI-13389236;
CC Q8N2U9; Q86Y82: STX12; NbExp=3; IntAct=EBI-3907610, EBI-2691717;
CC Q8N2U9; Q2T9K0-2: TMEM44; NbExp=3; IntAct=EBI-3907610, EBI-13076526;
CC Q8N2U9; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-3907610, EBI-11742770;
CC Q8N2U9; Q5T4F4: ZFYVE27; NbExp=3; IntAct=EBI-3907610, EBI-3892947;
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=Q8N2U9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N2U9-2; Sequence=VSP_024145;
CC Name=3;
CC IsoId=Q8N2U9-3; Sequence=VSP_043275, VSP_043276;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15329.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK026031; BAB15329.1; ALT_INIT; mRNA.
DR EMBL; AK301881; BAH13575.1; -; mRNA.
DR EMBL; AC114341; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471117; EAW66636.1; -; Genomic_DNA.
DR EMBL; BC030140; AAH30140.1; -; mRNA.
DR CCDS; CCDS12020.1; -. [Q8N2U9-1]
DR CCDS; CCDS54192.1; -. [Q8N2U9-3]
DR CCDS; CCDS54193.1; -. [Q8N2U9-2]
DR RefSeq; NP_001139815.1; NM_001146343.1. [Q8N2U9-3]
DR RefSeq; NP_001139817.1; NM_001146345.1. [Q8N2U9-2]
DR RefSeq; NP_079354.2; NM_025078.4. [Q8N2U9-1]
DR AlphaFoldDB; Q8N2U9; -.
DR BioGRID; 123140; 31.
DR IntAct; Q8N2U9; 24.
DR STRING; 9606.ENSP00000380880; -.
DR iPTMnet; Q8N2U9; -.
DR PhosphoSitePlus; Q8N2U9; -.
DR BioMuta; PQLC1; -.
DR DMDM; 74728728; -.
DR EPD; Q8N2U9; -.
DR jPOST; Q8N2U9; -.
DR MassIVE; Q8N2U9; -.
DR MaxQB; Q8N2U9; -.
DR PaxDb; Q8N2U9; -.
DR PeptideAtlas; Q8N2U9; -.
DR PRIDE; Q8N2U9; -.
DR ProteomicsDB; 33867; -.
DR ProteomicsDB; 71736; -. [Q8N2U9-1]
DR ProteomicsDB; 71737; -. [Q8N2U9-2]
DR ProteomicsDB; 71738; -. [Q8N2U9-3]
DR Antibodypedia; 23501; 77 antibodies from 16 providers.
DR DNASU; 80148; -.
DR Ensembl; ENST00000357575.8; ENSP00000350188.3; ENSG00000122490.19. [Q8N2U9-2]
DR Ensembl; ENST00000397778.7; ENSP00000380880.2; ENSG00000122490.19. [Q8N2U9-1]
DR Ensembl; ENST00000590381.5; ENSP00000465546.1; ENSG00000122490.19. [Q8N2U9-3]
DR GeneID; 80148; -.
DR KEGG; hsa:80148; -.
DR MANE-Select; ENST00000397778.7; ENSP00000380880.2; NM_025078.5; NP_079354.2.
DR UCSC; uc002lnk.3; human. [Q8N2U9-1]
DR CTD; 80148; -.
DR DisGeNET; 80148; -.
DR GeneCards; SLC66A2; -.
DR HGNC; HGNC:26188; SLC66A2.
DR HPA; ENSG00000122490; Tissue enhanced (liver).
DR neXtProt; NX_Q8N2U9; -.
DR OpenTargets; ENSG00000122490; -.
DR VEuPathDB; HostDB:ENSG00000122490; -.
DR eggNOG; KOG2913; Eukaryota.
DR GeneTree; ENSGT00390000002381; -.
DR HOGENOM; CLU_049047_2_0_1; -.
DR InParanoid; Q8N2U9; -.
DR OMA; FKMWFFF; -.
DR OrthoDB; 1259147at2759; -.
DR PhylomeDB; Q8N2U9; -.
DR TreeFam; TF313072; -.
DR PathwayCommons; Q8N2U9; -.
DR SignaLink; Q8N2U9; -.
DR BioGRID-ORCS; 80148; 13 hits in 1079 CRISPR screens.
DR ChiTaRS; PQLC1; human.
DR GenomeRNAi; 80148; -.
DR Pharos; Q8N2U9; Tdark.
DR PRO; PR:Q8N2U9; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q8N2U9; protein.
DR Bgee; ENSG00000122490; Expressed in right lobe of liver and 185 other tissues.
DR ExpressionAtlas; Q8N2U9; baseline and differential.
DR Genevisible; Q8N2U9; HS.
DR GO; GO:0005829; C:cytosol; IEA:GOC.
DR GO; GO:0005768; C:endosome; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005802; C:trans-Golgi network; IBA:GO_Central.
DR GO; GO:0045332; P:phospholipid translocation; IBA:GO_Central.
DR GO; GO:0042147; P:retrograde transport, endosome to Golgi; IBA:GO_Central.
DR InterPro; IPR006603; PQ-loop_rpt.
DR Pfam; PF04193; PQ-loop; 2.
DR SMART; SM00679; CTNS; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Phosphoprotein; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..271
FT /note="Solute carrier family 66 member 2"
FT /id="PRO_0000282430"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 49..69
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..96
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 145..165
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 168..188
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 232..252
FT /note="Helical"
FT /evidence="ECO:0000255"
FT DOMAIN 14..80
FT /note="PQ-loop 1"
FT DOMAIN 178..233
FT /note="PQ-loop 2"
FT MOD_RES 110
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80XM9"
FT VAR_SEQ 113..130
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024145"
FT VAR_SEQ 114..132
FT /note="ADSKDEEVKVAPRRSFLDF -> SRWCSCGPVVTPSRRPTSC (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043275"
FT VAR_SEQ 133..271
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043276"
FT VARIANT 175
FT /note="G -> A (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035979"
SQ SEQUENCE 271 AA; 30478 MW; 411D19C5676893AA CRC64;
MEAEGLDWLL VPLHQLVSWG AAAAMVFGGV VPYVPQYRDI RRTQNADGFS TYVCLVLLVA
NILRILFWFG RRFESPLLWQ SAIMILTMLL MLKLCTEVRV ANELNARRRS FTAADSKDEE
VKVAPRRSFL DFDPHHFWQW SSFSDYVQCV LAFTGVAGYI TYLSIDSALF VETLGFLAVL
TEAMLGVPQL YRNHRHQSTE GMSIKMVLMW TSGDAFKTAY FLLKGAPLQF SVCGLLQVLV
DLAILGQAYA FARHPQKPAP HAVHPTGTKA L
