S39AC_HUMAN
ID S39AC_HUMAN Reviewed; 691 AA.
AC Q504Y0; B7Z2Y9; B7ZL35; C9JJL4; F5GX72; Q49AN8; Q4G0L3; Q5VWV8; Q5VWV9;
AC Q6NZY5; Q96NN4;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Zinc transporter ZIP12;
DE AltName: Full=LIV-1 subfamily of ZIP zinc transporter 8;
DE Short=LZT-Hs8;
DE AltName: Full=Solute carrier family 39 member 12;
DE AltName: Full=Zrt- and Irt-like protein 12;
DE Short=ZIP-12;
GN Name=SLC39A12; Synonyms=ZIP12;
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] (ISOFORMS 3 AND 5), AND VARIANT
RP ILE-304.
RC TISSUE=Brain, and Caudate nucleus;
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP GLY-36 AND ILE-304.
RC TISSUE=Brain, and Lung;
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 TISSUE SPECIFICITY.
RX PubMed=12107410;
RA Wistow G., Bernstein S.L., Wyatt M.K., Fariss R.N., Behal A.,
RA Touchman J.W., Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of human RPE/choroid for the NEIBank
RT project: over 6000 non-redundant transcripts, novel genes and splice
RT variants.";
RL Mol. Vis. 8:205-220(2002).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=15342556; DOI=10.1101/gr.2435604;
RA Suzuki Y., Yamashita R., Shirota M., Sakakibara Y., Chiba J.,
RA Mizushima-Sugano J., Nakai K., Sugano S.;
RT "Sequence comparison of human and mouse genes reveals a homologous block
RT structure in the promoter regions.";
RL Genome Res. 14:1711-1718(2004).
RN [6]
RP PROBABLE INVOLVEMENT IN SCHIZOPHRENIA, AND VARIANT GLY-36.
RX PubMed=16311021; DOI=10.1016/j.schres.2005.07.039;
RA Bly M.;
RT "Examination of the zinc transporter gene, SLC39A12.";
RL Schizophr. Res. 81:321-322(2006).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] THR-471.
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: Acts as a zinc-influx transporter (Potential). May be partly
CC involved in the outbreak of schizophrenia. {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q504Y0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q504Y0-2; Sequence=VSP_029847, VSP_029848;
CC Name=3;
CC IsoId=Q504Y0-3; Sequence=VSP_029849;
CC Name=4;
CC IsoId=Q504Y0-4; Sequence=VSP_029850;
CC Name=5;
CC IsoId=Q504Y0-5; Sequence=VSP_057594;
CC -!- TISSUE SPECIFICITY: Expressed in brain and eye.
CC {ECO:0000269|PubMed:12107410, ECO:0000269|PubMed:15342556}.
CC -!- SIMILARITY: Belongs to the ZIP transporter (TC 2.A.5) family.
CC {ECO:0000305}.
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DR EMBL; AK055061; BAB70848.1; -; mRNA.
DR EMBL; AK295294; BAH12025.1; -; mRNA.
DR EMBL; AC069023; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL360231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590111; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC035118; AAH35118.1; -; mRNA.
DR EMBL; BC047635; AAH47635.1; -; mRNA.
DR EMBL; BC065917; AAH65917.1; -; mRNA.
DR EMBL; BC094700; AAH94700.1; -; mRNA.
DR EMBL; BC117323; AAI17324.1; -; mRNA.
DR EMBL; BC143551; AAI43552.1; -; mRNA.
DR CCDS; CCDS44362.1; -. [Q504Y0-1]
DR CCDS; CCDS60493.1; -. [Q504Y0-4]
DR CCDS; CCDS60494.1; -. [Q504Y0-5]
DR CCDS; CCDS7124.1; -. [Q504Y0-3]
DR RefSeq; NP_001138667.1; NM_001145195.1. [Q504Y0-1]
DR RefSeq; NP_001269662.1; NM_001282733.1. [Q504Y0-4]
DR RefSeq; NP_001269663.1; NM_001282734.1. [Q504Y0-5]
DR RefSeq; NP_689938.2; NM_152725.3. [Q504Y0-3]
DR AlphaFoldDB; Q504Y0; -.
DR SMR; Q504Y0; -.
DR BioGRID; 128681; 82.
DR IntAct; Q504Y0; 70.
DR STRING; 9606.ENSP00000366586; -.
DR DrugBank; DB14533; Zinc chloride.
DR DrugBank; DB14548; Zinc sulfate, unspecified form.
DR TCDB; 2.A.5.4.14; the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.
DR iPTMnet; Q504Y0; -.
DR PhosphoSitePlus; Q504Y0; -.
DR BioMuta; SLC39A12; -.
DR DMDM; 313104190; -.
DR MassIVE; Q504Y0; -.
DR PaxDb; Q504Y0; -.
DR PeptideAtlas; Q504Y0; -.
DR PRIDE; Q504Y0; -.
DR ProteomicsDB; 24332; -.
DR ProteomicsDB; 62411; -. [Q504Y0-1]
DR ProteomicsDB; 62412; -. [Q504Y0-2]
DR ProteomicsDB; 62413; -. [Q504Y0-3]
DR ProteomicsDB; 62414; -. [Q504Y0-4]
DR Antibodypedia; 12047; 58 antibodies from 21 providers.
DR DNASU; 221074; -.
DR Ensembl; ENST00000377369.7; ENSP00000366586.2; ENSG00000148482.12. [Q504Y0-1]
DR Ensembl; ENST00000377371.3; ENSP00000366588.3; ENSG00000148482.12. [Q504Y0-4]
DR Ensembl; ENST00000377374.8; ENSP00000366591.4; ENSG00000148482.12. [Q504Y0-3]
DR Ensembl; ENST00000539911.5; ENSP00000440445.1; ENSG00000148482.12. [Q504Y0-5]
DR GeneID; 221074; -.
DR KEGG; hsa:221074; -.
DR MANE-Select; ENST00000377369.7; ENSP00000366586.2; NM_001145195.2; NP_001138667.1.
DR UCSC; uc001ipn.3; human. [Q504Y0-1]
DR UCSC; uc010qck.1; human.
DR CTD; 221074; -.
DR DisGeNET; 221074; -.
DR GeneCards; SLC39A12; -.
DR HGNC; HGNC:20860; SLC39A12.
DR HPA; ENSG00000148482; Tissue enriched (choroid).
DR MIM; 608734; gene.
DR neXtProt; NX_Q504Y0; -.
DR OpenTargets; ENSG00000148482; -.
DR PharmGKB; PA134956205; -.
DR VEuPathDB; HostDB:ENSG00000148482; -.
DR eggNOG; KOG2693; Eukaryota.
DR GeneTree; ENSGT00940000157914; -.
DR InParanoid; Q504Y0; -.
DR OMA; AQVCFSA; -.
DR OrthoDB; 657777at2759; -.
DR PhylomeDB; Q504Y0; -.
DR TreeFam; TF318470; -.
DR PathwayCommons; Q504Y0; -.
DR SignaLink; Q504Y0; -.
DR BioGRID-ORCS; 221074; 6 hits in 1058 CRISPR screens.
DR GenomeRNAi; 221074; -.
DR Pharos; Q504Y0; Tbio.
DR PRO; PR:Q504Y0; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q504Y0; protein.
DR Bgee; ENSG00000148482; Expressed in pigmented layer of retina and 62 other tissues.
DR Genevisible; Q504Y0; HS.
DR GO; GO:1903561; C:extracellular vesicle; HDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
DR GO; GO:0005385; F:zinc ion transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006882; P:cellular zinc ion homeostasis; IBA:GO_Central.
DR GO; GO:1903672; P:positive regulation of sprouting angiogenesis; IEA:Ensembl.
DR GO; GO:0031113; P:regulation of microtubule polymerization; IEA:Ensembl.
DR GO; GO:0010975; P:regulation of neuron projection development; IEA:Ensembl.
DR GO; GO:0036293; P:response to decreased oxygen levels; IEA:Ensembl.
DR GO; GO:0007165; P:signal transduction; IEA:Ensembl.
DR GO; GO:0071578; P:zinc ion import across plasma membrane; IBA:GO_Central.
DR InterPro; IPR003689; ZIP.
DR InterPro; IPR041137; ZIP4_N.
DR Pfam; PF02535; Zip; 1.
DR Pfam; PF18292; ZIP4_domain; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Ion transport; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport; Zinc; Zinc transport.
FT CHAIN 1..691
FT /note="Zinc transporter ZIP12"
FT /id="PRO_0000312497"
FT TOPO_DOM 1..202
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 203..223
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 224..369
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 370..390
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 391..398
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 399..419
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 420..448
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 449..469
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 470..538
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 539..559
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 560..602
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 603..623
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 624..631
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 632..652
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 653..663
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 664..684
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 685..691
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT MOTIF 580..585
FT /note="XEXPHE-motif"
FT VAR_SEQ 1..134
FT /note="Missing (in isoform 5)"
FT /id="VSP_057594"
FT VAR_SEQ 343..407
FT /note="QLLSCSCHLPKDQQAKLPPTTLEKYGYSTVAVTLLTLGSMLGTALVLFHSCE
FT ENYRLILQLFVGL -> RWSFSIAVRRTTGLSYSCLWAWPSGHCLGTLCSTLSLRFLVY
FT ISRKPQNLGISMKAKVIFGN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029847"
FT VAR_SEQ 408..691
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029848"
FT VAR_SEQ 475..511
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029849"
FT VAR_SEQ 475
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_029850"
FT VARIANT 36
FT /note="S -> G (in dbSNP:rs10764176)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:16311021"
FT /id="VAR_037516"
FT VARIANT 244
FT /note="T -> M (in dbSNP:rs7899328)"
FT /id="VAR_037517"
FT VARIANT 304
FT /note="V -> I (in dbSNP:rs2478568)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_037518"
FT VARIANT 435
FT /note="F -> L (in dbSNP:rs11011935)"
FT /id="VAR_037519"
FT VARIANT 471
FT /note="P -> T (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_037520"
FT CONFLICT 287
FT /note="D -> G (in Ref. 1; BAB70848)"
FT /evidence="ECO:0000305"
FT CONFLICT 316
FT /note="L -> R (in Ref. 3; AAH47635)"
FT /evidence="ECO:0000305"
FT CONFLICT 423
FT /note="Q -> R (in Ref. 1; BAH12025)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 691 AA; 76666 MW; EB5959BDFD229D04 CRC64;
MCFRTKLSVS WVPLFLLLSR VFSTETDKPS AQDSRSRGSS GQPADLLQVL SAGDHPPHNH
SRSLIKTLLE KTGCPRRRNG MQGDCNLCFE PDALLLIAGG NFEDQLREEV VQRVSLLLLY
YIIHQEEICS SKLNMSNKEY KFYLHSLLSL RQDEDSSFLS QNETEDILAF TRQYFDTSQS
QCMETKTLQK KSGIVSSEGA NESTLPQLAA MIITLSLQGV CLGQGNLPSP DYFTEYIFSS
LNRTNTLRLS ELDQLLNTLW TRSTCIKNEK IHQFQRKQNN IITHDQDYSN FSSSMEKESE
DGPVSWDQTC FSARQLVEIF LQKGLSLISK EDFKQMSPGI IQQLLSCSCH LPKDQQAKLP
PTTLEKYGYS TVAVTLLTLG SMLGTALVLF HSCEENYRLI LQLFVGLAVG TLSGDALLHL
IPQVLGLHKQ EAPEFGHFHE SKGHIWKLMG LIGGIHGFFL IEKCFILLVS PNDKQGLSLV
NGHVGHSHHL ALNSELSDQA GRGKSASTIQ LKSPEDSQAA EMPIGSMTAS NRKCKAISLL
AIMILVGDSL HNFADGLAIG AAFSSSSESG VTTTIAILCH EIPHEMGDFA VLLSSGLSMK
TAILMNFISS LTAFMGLYIG LSVSADPCVQ DWIFTVTAGM FLYLSLVEML PEMTHVQTQR
PWMMFLLQNF GLILGWLSLL LLAIYEQNIK I
