S39AD_HUMAN
ID S39AD_HUMAN Reviewed; 371 AA.
AC Q96H72; D3DQR6; D3DQR7; E9PLY1; E9PQV3; Q659D9; Q8N7C9; Q8WV10;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Zinc transporter ZIP13;
DE AltName: Full=LIV-1 subfamily of ZIP zinc transporter 9;
DE Short=LZT-Hs9;
DE AltName: Full=Solute carrier family 39 member 13;
DE AltName: Full=Zrt- and Irt-like protein 13;
DE Short=ZIP-13;
GN Name=SLC39A13; Synonyms=ZIP13;
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 2), AND VARIANT GLY-28.
RC TISSUE=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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLY-28.
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 278-371 (ISOFORM 2), AND VARIANT
RP GLY-28.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=21917916; DOI=10.1074/jbc.m111.256784;
RA Bin B.H., Fukada T., Hosaka T., Yamasaki S., Ohashi W., Hojyo S., Miyai T.,
RA Nishida K., Yokoyama S., Hirano T.;
RT "Biochemical characterization of human ZIP13 protein: a homo-dimerized zinc
RT transporter involved in the spondylocheiro dysplastic Ehlers-Danlos
RT syndrome.";
RL J. Biol. Chem. 286:40255-40265(2011).
RN [7]
RP VARIANT EDSSPD3 162-PHE--ALA-164 DEL.
RX PubMed=18513683; DOI=10.1016/j.ajhg.2008.05.001;
RA Giunta C., Elcioglu N.H., Albrecht B., Eich G., Chambaz C., Janecke A.R.,
RA Yeowell H., Weis M., Eyre D.R., Kraenzlin M., Steinmann B.;
RT "Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome -- an
RT autosomal-recessive entity caused by mutations in the zinc transporter gene
RT SLC39A13.";
RL Am. J. Hum. Genet. 82:1290-1305(2008).
CC -!- FUNCTION: Acts as a zinc-influx transporter.
CC {ECO:0000269|PubMed:21917916}.
CC -!- SUBUNIT: Homodimer. {ECO:0000305|PubMed:21917916}.
CC -!- INTERACTION:
CC Q96H72; P25942: CD40; NbExp=3; IntAct=EBI-10287091, EBI-525714;
CC Q96H72; O15173: PGRMC2; NbExp=3; IntAct=EBI-10287091, EBI-1050125;
CC Q96H72; Q04864: REL; NbExp=3; IntAct=EBI-10287091, EBI-307352;
CC Q96H72; P15884: TCF4; NbExp=3; IntAct=EBI-10287091, EBI-533224;
CC -!- SUBCELLULAR LOCATION: Golgi apparatus membrane
CC {ECO:0000269|PubMed:21917916}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:21917916}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96H72-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96H72-2; Sequence=VSP_029819;
CC -!- DISEASE: Ehlers-Danlos syndrome, spondylodysplastic type, 3 (EDSSPD3)
CC [MIM:612350]: A form of Ehlers-Danlos syndrome, a group of connective
CC tissue disorders characterized by skin hyperextensibility, articular
CC hypermobility, and tissue fragility. EDSSPD3 is an autosomal recessive
CC form characterized by a generalized skeletal dysplasia involving mainly
CC the spine and striking clinical abnormalities of the hands, in addition
CC to classic features of Ehlers-Danlos syndrome. Clinical features
CC include postnatal growth retardation, moderate short stature,
CC protuberant eyes with bluish sclerae, hands with finely wrinkled palms,
CC atrophy of the thenar muscles, and tapering fingers. Radiologic
CC features include mild to moderate platyspondyly, mild to moderate
CC osteopenia of the spine, small ileum, flat proximal femoral epiphyses,
CC short, wide femoral necks, and broad metaphyses (elbows, knees, wrists,
CC and interphalangeal joints). {ECO:0000269|PubMed:18513683}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the ZIP transporter (TC 2.A.5) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05365.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK098651; BAC05365.1; ALT_FRAME; mRNA.
DR EMBL; AC090559; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471064; EAW67918.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67919.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67920.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67921.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67922.1; -; Genomic_DNA.
DR EMBL; CH471064; EAW67923.1; -; Genomic_DNA.
DR EMBL; BC008853; AAH08853.2; -; mRNA.
DR EMBL; BC019016; AAH19016.1; -; mRNA.
DR EMBL; AL133581; CAH56389.1; -; mRNA.
DR CCDS; CCDS44592.1; -. [Q96H72-1]
DR CCDS; CCDS7934.1; -. [Q96H72-2]
DR RefSeq; NP_001121697.1; NM_001128225.2. [Q96H72-1]
DR RefSeq; NP_001317174.1; NM_001330245.1.
DR RefSeq; NP_689477.2; NM_152264.4. [Q96H72-2]
DR RefSeq; XP_011518769.1; XM_011520467.1. [Q96H72-1]
DR RefSeq; XP_011518770.1; XM_011520468.2. [Q96H72-1]
DR RefSeq; XP_016874029.1; XM_017018540.1. [Q96H72-2]
DR AlphaFoldDB; Q96H72; -.
DR SMR; Q96H72; -.
DR BioGRID; 124808; 12.
DR IntAct; Q96H72; 7.
DR MINT; Q96H72; -.
DR STRING; 9606.ENSP00000354689; -.
DR DrugBank; DB14533; Zinc chloride.
DR DrugBank; DB14548; Zinc sulfate, unspecified form.
DR TCDB; 2.A.5.4.12; the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.
DR iPTMnet; Q96H72; -.
DR PhosphoSitePlus; Q96H72; -.
DR BioMuta; SLC39A13; -.
DR DMDM; 296452971; -.
DR EPD; Q96H72; -.
DR MassIVE; Q96H72; -.
DR MaxQB; Q96H72; -.
DR PaxDb; Q96H72; -.
DR PeptideAtlas; Q96H72; -.
DR PRIDE; Q96H72; -.
DR ProteomicsDB; 76707; -. [Q96H72-1]
DR ProteomicsDB; 76708; -. [Q96H72-2]
DR Antibodypedia; 26741; 62 antibodies from 22 providers.
DR DNASU; 91252; -.
DR Ensembl; ENST00000354884.8; ENSP00000346956.4; ENSG00000165915.14. [Q96H72-2]
DR Ensembl; ENST00000362021.9; ENSP00000354689.4; ENSG00000165915.14. [Q96H72-1]
DR GeneID; 91252; -.
DR KEGG; hsa:91252; -.
DR MANE-Select; ENST00000362021.9; ENSP00000354689.4; NM_001128225.3; NP_001121697.2.
DR UCSC; uc001nff.5; human. [Q96H72-1]
DR CTD; 91252; -.
DR DisGeNET; 91252; -.
DR GeneCards; SLC39A13; -.
DR HGNC; HGNC:20859; SLC39A13.
DR HPA; ENSG00000165915; Low tissue specificity.
DR MalaCards; SLC39A13; -.
DR MIM; 608735; gene.
DR MIM; 612350; phenotype.
DR neXtProt; NX_Q96H72; -.
DR OpenTargets; ENSG00000165915; -.
DR Orphanet; 157965; SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome.
DR PharmGKB; PA134948414; -.
DR VEuPathDB; HostDB:ENSG00000165915; -.
DR eggNOG; KOG2694; Eukaryota.
DR GeneTree; ENSGT00940000157349; -.
DR InParanoid; Q96H72; -.
DR OMA; TGDSVHC; -.
DR OrthoDB; 657777at2759; -.
DR PhylomeDB; Q96H72; -.
DR TreeFam; TF318470; -.
DR PathwayCommons; Q96H72; -.
DR SignaLink; Q96H72; -.
DR BioGRID-ORCS; 91252; 14 hits in 1078 CRISPR screens.
DR ChiTaRS; SLC39A13; human.
DR GenomeRNAi; 91252; -.
DR Pharos; Q96H72; Tbio.
DR PRO; PR:Q96H72; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q96H72; protein.
DR Bgee; ENSG00000165915; Expressed in metanephros cortex and 176 other tissues.
DR ExpressionAtlas; Q96H72; baseline and differential.
DR Genevisible; Q96H72; HS.
DR GO; GO:0005794; C:Golgi apparatus; IDA:BHF-UCL.
DR GO; GO:0030173; C:integral component of Golgi membrane; IC:BHF-UCL.
DR GO; GO:0016021; C:integral component of membrane; IDA:BHF-UCL.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:BHF-UCL.
DR GO; GO:0042803; F:protein homodimerization activity; IPI:BHF-UCL.
DR GO; GO:0005385; F:zinc ion transmembrane transporter activity; IDA:BHF-UCL.
DR GO; GO:0006882; P:cellular zinc ion homeostasis; IDA:BHF-UCL.
DR GO; GO:0061448; P:connective tissue development; IMP:BHF-UCL.
DR GO; GO:0071577; P:zinc ion transmembrane transport; IDA:BHF-UCL.
DR InterPro; IPR003689; ZIP.
DR Pfam; PF02535; Zip; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Ehlers-Danlos syndrome; Golgi apparatus;
KW Ion transport; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport; Zinc; Zinc transport.
FT CHAIN 1..371
FT /note="Zinc transporter ZIP13"
FT /id="PRO_0000312309"
FT TOPO_DOM 1..7
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 29..68
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..89
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 90..108
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 109..129
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 130..149
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 150..170
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 171..235
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 236..256
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 257..278
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 279..299
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 300..316
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 317..337
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 338..349
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 350..370
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 371
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT MOTIF 257..262
FT /note="XEXPHE-motif"
FT VAR_SEQ 307..313
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_029819"
FT VARIANT 28
FT /note="E -> G (in dbSNP:rs2010519)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_037484"
FT VARIANT 162..164
FT /note="Missing (in EDSSPD3)"
FT /evidence="ECO:0000269|PubMed:18513683"
FT /id="VAR_054127"
FT VARIANT 346
FT /note="P -> L (in dbSNP:rs35978122)"
FT /id="VAR_037485"
SQ SEQUENCE 371 AA; 39011 MW; E3E9AF33A2EB4E42 CRC64;
MPGCPCPGCG MAGPRLLFLT ALALELLERA GGSQPALRSR GTATACRLDN KESESWGALL
SGERLDTWIC SLLGSLMVGL SGVFPLLVIP LEMGTMLRSE AGAWRLKQLL SFALGGLLGN
VFLHLLPEAW AYTCSASPGG EGQSLQQQQQ LGLWVIAGIL TFLALEKMFL DSKEEGTSQA
PNKDPTAAAA ALNGGHCLAQ PAAEPGLGAV VRSIKVSGYL NLLANTIDNF THGLAVAASF
LVSKKIGLLT TMAILLHEIP HEVGDFAILL RAGFDRWSAA KLQLSTALGG LLGAGFAICT
QSPKGVVGCS PAAEETAAWV LPFTSGGFLY IALVNVLPDL LEEEDPWRSL QQLLLLCAGI
VVMVLFSLFV D
