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NIPA4_HUMAN
ID   NIPA4_HUMAN             Reviewed;         404 AA.
AC   Q0D2K0; A8S6F1; A8S6F5; A8S6F8; B4DLF3; Q0D2J8; Q0D2J9;
DT   17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT   23-FEB-2022, sequence version 4.
DT   03-AUG-2022, entry version 124.
DE   RecName: Full=Magnesium transporter NIPA4;
DE   AltName: Full=Ichthyin;
DE   AltName: Full=NIPA-like protein 4;
DE   AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 4;
GN   Name=NIPAL4; Synonyms=ICHN, NIPA4;
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 [GENOMIC DNA] (ISOFORM 1), TISSUE SPECIFICITY, AND
RP   VARIANTS ARCI6 ASP-114 AND ARG-168.
RX   PubMed=17557927; DOI=10.1136/jmg.2007.050542;
RA   Dahlqvist J., Klar J., Hausser I., Anton-Lamprecht I., Pigg M.H.,
RA   Gedde-Dahl T., Gaanemo A., Vahlquist A., Dahl N.;
RT   "Congenital ichthyosis: mutations in ichthyin are associated with specific
RT   structural abnormalities in the granular layer of epidermis.";
RL   J. Med. Genet. 44:615-620(2007).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Tongue;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15372022; DOI=10.1038/nature02919;
RA   Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA   Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA   She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA   Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA   Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA   Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA   Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA   Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA   Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA   Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA   Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA   Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA   Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT   "The DNA sequence and comparative analysis of human chromosome 5.";
RL   Nature 431:268-274(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 55-404 (ISOFORM 1).
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   VARIANTS ARCI6 VAL-80; ASP-114; PHE-146; ASN-175 AND ARG-235, FUNCTION, AND
RP   TISSUE SPECIFICITY.
RX   PubMed=15317751; DOI=10.1093/hmg/ddh263;
RA   Lefevre C., Bouadjar B., Karaduman A., Jobard F., Saker S., Ozguc M.,
RA   Lathrop M., Prud'homme J.-F., Fischer J.;
RT   "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of
RT   autosomal recessive congenital ichthyosis.";
RL   Hum. Mol. Genet. 13:2473-2482(2004).
RN   [6]
RP   VARIANT ARCI6 ARG-73.
RX   PubMed=26456858; DOI=10.1111/ced.12740;
RA   Maier D., Mazereeuw-Hautier J., Tilinca M., Cosgarea R., Jonca N.;
RT   "Novel mutation in NIPAL4 in a Romanian family with autosomal recessive
RT   congenital ichthyosis.";
RL   Clin. Exp. Dermatol. 41:279-282(2016).
CC   -!- FUNCTION: Acts as a Mg(2+) transporter. Can also transport other
CC       divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a
CC       much less extent than Mg(2+) (By similarity). May be a receptor for
CC       ligands (trioxilins A3 and B3) from the hepoxilin pathway.
CC       {ECO:0000250, ECO:0000269|PubMed:15317751}.
CC   -!- INTERACTION:
CC       Q0D2K0; O00590: ACKR2; NbExp=3; IntAct=EBI-9550165, EBI-13379418;
CC       Q0D2K0; O95471: CLDN7; NbExp=3; IntAct=EBI-9550165, EBI-740744;
CC       Q0D2K0; Q8TAZ6: CMTM2; NbExp=3; IntAct=EBI-9550165, EBI-2339374;
CC       Q0D2K0; P21964: COMT; NbExp=3; IntAct=EBI-9550165, EBI-372265;
CC       Q0D2K0; O15552: FFAR2; NbExp=3; IntAct=EBI-9550165, EBI-2833872;
CC       Q0D2K0; P08034: GJB1; NbExp=3; IntAct=EBI-9550165, EBI-17565645;
CC       Q0D2K0; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-9550165, EBI-13345167;
CC       Q0D2K0; Q9UM44: HHLA2; NbExp=3; IntAct=EBI-9550165, EBI-2867874;
CC       Q0D2K0; Q13651: IL10RA; NbExp=3; IntAct=EBI-9550165, EBI-1031656;
CC       Q0D2K0; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-9550165, EBI-2820517;
CC       Q0D2K0; Q96GF1: RNF185; NbExp=3; IntAct=EBI-9550165, EBI-2340249;
CC       Q0D2K0; Q6ZMZ0: RNF19B; NbExp=3; IntAct=EBI-9550165, EBI-2466594;
CC       Q0D2K0; Q8WWF3: SSMEM1; NbExp=3; IntAct=EBI-9550165, EBI-17280858;
CC       Q0D2K0; Q96CE8: TM4SF18; NbExp=3; IntAct=EBI-9550165, EBI-13351685;
CC       Q0D2K0; P34981: TRHR; NbExp=3; IntAct=EBI-9550165, EBI-18055230;
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=Q0D2K0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q0D2K0-2; Sequence=VSP_036122;
CC   -!- TISSUE SPECIFICITY: Highly expressed in brain, lung, stomach,
CC       keratinocytes and leukocytes, and in all other tissues tested except
CC       liver, thyroid and fetal brain. {ECO:0000269|PubMed:15317751,
CC       ECO:0000269|PubMed:17557927}.
CC   -!- DISEASE: Ichthyosis, congenital, autosomal recessive 6 (ARCI6)
CC       [MIM:612281]: A form of autosomal recessive congenital ichthyosis, a
CC       disorder of keratinization with abnormal differentiation and
CC       desquamation of the epidermis, resulting in abnormal skin scaling over
CC       the whole body. The main skin phenotypes are lamellar ichthyosis (LI)
CC       and non-bullous congenital ichthyosiform erythroderma (NCIE), although
CC       phenotypic overlap within the same patient or among patients from the
CC       same family can occur. Lamellar ichthyosis is a condition often
CC       associated with an embedment in a collodion-like membrane at birth;
CC       skin scales later develop, covering the entire body surface. Non-
CC       bullous congenital ichthyosiform erythroderma characterized by fine
CC       whitish scaling on an erythrodermal background; larger brownish scales
CC       are present on the buttocks, neck and legs.
CC       {ECO:0000269|PubMed:15317751, ECO:0000269|PubMed:17557927,
CC       ECO:0000269|PubMed:26456858}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the NIPA family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=ABW69628.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=ABW69629.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=ABW69630.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=ABW69630.1; Type=Miscellaneous discrepancy; Note=Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.; Evidence={ECO:0000305};
CC       Sequence=BAG59515.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; EF599763; ABW69628.1; ALT_INIT; Genomic_DNA.
DR   EMBL; EF599764; ABW69629.1; ALT_INIT; Genomic_DNA.
DR   EMBL; EF599765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; EF599766; ABW69630.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; AK296972; BAG59515.1; ALT_INIT; mRNA.
DR   EMBL; AC008676; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC105708; AAI05709.1; -; mRNA.
DR   EMBL; BC105709; AAI05710.1; -; mRNA.
DR   EMBL; BC105710; AAI05711.1; -; mRNA.
DR   CCDS; CCDS47328.1; -. [Q0D2K0-1]
DR   RefSeq; NP_001092757.1; NM_001099287.1.
DR   RefSeq; NP_001165763.1; NM_001172292.1. [Q0D2K0-2]
DR   AlphaFoldDB; Q0D2K0; -.
DR   BioGRID; 131541; 20.
DR   IntAct; Q0D2K0; 17.
DR   STRING; 9606.ENSP00000311687; -.
DR   TCDB; 2.A.7.25.4; the drug/metabolite transporter (dmt) superfamily.
DR   GlyGen; Q0D2K0; 3 sites.
DR   iPTMnet; Q0D2K0; -.
DR   PhosphoSitePlus; Q0D2K0; -.
DR   BioMuta; NIPAL4; -.
DR   DMDM; 221222524; -.
DR   EPD; Q0D2K0; -.
DR   MassIVE; Q0D2K0; -.
DR   MaxQB; Q0D2K0; -.
DR   PaxDb; Q0D2K0; -.
DR   PeptideAtlas; Q0D2K0; -.
DR   PRIDE; Q0D2K0; -.
DR   ProteomicsDB; 58743; -. [Q0D2K0-1]
DR   ProteomicsDB; 58744; -. [Q0D2K0-2]
DR   Antibodypedia; 48488; 72 antibodies from 15 providers.
DR   DNASU; 348938; -.
DR   Ensembl; ENST00000311946.8; ENSP00000311687.8; ENSG00000172548.15. [Q0D2K0-1]
DR   Ensembl; ENST00000435489.7; ENSP00000406456.3; ENSG00000172548.15. [Q0D2K0-2]
DR   GeneID; 348938; -.
DR   KEGG; hsa:348938; -.
DR   MANE-Select; ENST00000311946.8; ENSP00000311687.8; NM_001099287.2; NP_001092757.2.
DR   UCSC; uc003lwx.5; human. [Q0D2K0-1]
DR   CTD; 348938; -.
DR   DisGeNET; 348938; -.
DR   GeneCards; NIPAL4; -.
DR   GeneReviews; NIPAL4; -.
DR   HGNC; HGNC:28018; NIPAL4.
DR   HPA; ENSG00000172548; Tissue enhanced (brain, skin).
DR   MalaCards; NIPAL4; -.
DR   MIM; 609383; gene.
DR   MIM; 612281; phenotype.
DR   neXtProt; NX_Q0D2K0; -.
DR   OpenTargets; ENSG00000172548; -.
DR   Orphanet; 79394; Congenital non-bullous ichthyosiform erythroderma.
DR   Orphanet; 313; Lamellar ichthyosis.
DR   PharmGKB; PA164723956; -.
DR   VEuPathDB; HostDB:ENSG00000172548; -.
DR   eggNOG; KOG2922; Eukaryota.
DR   GeneTree; ENSGT00940000159087; -.
DR   HOGENOM; CLU_012349_1_2_1; -.
DR   InParanoid; Q0D2K0; -.
DR   OMA; MGAGEVC; -.
DR   OrthoDB; 754939at2759; -.
DR   PhylomeDB; Q0D2K0; -.
DR   TreeFam; TF313214; -.
DR   PathwayCommons; Q0D2K0; -.
DR   Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
DR   SignaLink; Q0D2K0; -.
DR   BioGRID-ORCS; 348938; 7 hits in 1062 CRISPR screens.
DR   GenomeRNAi; 348938; -.
DR   Pharos; Q0D2K0; Tbio.
DR   PRO; PR:Q0D2K0; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   RNAct; Q0D2K0; protein.
DR   Bgee; ENSG00000172548; Expressed in upper arm skin and 132 other tissues.
DR   ExpressionAtlas; Q0D2K0; baseline and differential.
DR   Genevisible; Q0D2K0; 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:0015095; F:magnesium ion transmembrane transporter activity; IEA:InterPro.
DR   GO; GO:0015693; P:magnesium ion transport; IBA:GO_Central.
DR   InterPro; IPR008521; Mg_trans_NIPA.
DR   PANTHER; PTHR12570; PTHR12570; 1.
DR   Pfam; PF05653; Mg_trans_NIPA; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Disease variant; Glycoprotein; Ichthyosis;
KW   Ion transport; Magnesium; Membrane; Receptor; Reference proteome;
KW   Transmembrane; Transmembrane helix; Transport.
FT   CHAIN           1..404
FT                   /note="Magnesium transporter NIPA4"
FT                   /id="PRO_0000284447"
FT   TOPO_DOM        1..55
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        56..76
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        77..102
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        103..123
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        124
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        125..145
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        146..153
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        154..174
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        175..195
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        196..216
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        217..223
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        224..244
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        245..261
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        262..282
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        283..293
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        294..314
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        315..324
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        325..345
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        346..404
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        7
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        12
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        40
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         94..112
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_036122"
FT   VARIANT         73
FT                   /note="S -> R (in ARCI6; dbSNP:rs376803325)"
FT                   /evidence="ECO:0000269|PubMed:26456858"
FT                   /id="VAR_075461"
FT   VARIANT         80
FT                   /note="G -> V (in ARCI6; dbSNP:rs775903553)"
FT                   /evidence="ECO:0000269|PubMed:15317751"
FT                   /id="VAR_031736"
FT   VARIANT         114
FT                   /note="A -> D (in ARCI6; frequent mutation;
FT                   dbSNP:rs199422217)"
FT                   /evidence="ECO:0000269|PubMed:15317751,
FT                   ECO:0000269|PubMed:17557927"
FT                   /id="VAR_031737"
FT   VARIANT         146
FT                   /note="S -> F (in ARCI6)"
FT                   /evidence="ECO:0000269|PubMed:15317751"
FT                   /id="VAR_031738"
FT   VARIANT         168
FT                   /note="G -> R (in ARCI6; dbSNP:rs370356566)"
FT                   /evidence="ECO:0000269|PubMed:17557927"
FT                   /id="VAR_054120"
FT   VARIANT         175
FT                   /note="H -> N (in ARCI6)"
FT                   /evidence="ECO:0000269|PubMed:15317751"
FT                   /id="VAR_031739"
FT   VARIANT         235
FT                   /note="G -> R (in ARCI6; dbSNP:rs375688767)"
FT                   /evidence="ECO:0000269|PubMed:15317751"
FT                   /id="VAR_031740"
FT   CONFLICT        151
FT                   /note="R -> G (in Ref. 2; BAG59515 and 4; AAI05711)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   404 AA;  44005 MW;  67D97A2881CE508A CRC64;
     MELRVSNTSC ENGSLLHLYC SSQEVLCQIV NDLSPEVPSN ATFHSWQERI RQNYGFYIGL
     GLAFLSSFLI GSSVILKKKG LLRLVATGAT RAVDGGFGYL KDAMWWAGFL TMAAGEVANF
     GAYAFAPATV VTPLGALSVL ISAILSSYFL RESLNLLGKL GCVICVAGST VMVIHAPEEE
     KVTTIMEMAS KMKDTGFIVF AVLLLVSCLI LIFVIAPRYG QRNILIYIII CSVIGAFSVA
     AVKGLGITIK NFFQGLPVVR HPLPYILSLI LALSLSTQVN FLNRALDIFN TSLVFPIYYV
     FFTTVVVTSS IILFKEWYSM SAVDIAGTLS GFVTIILGVF MLHAFKDLDI SCASLPHMHK
     NPPPSPAPEP TVIRLEDKNV LVDNIELAST SSPEEKPKVF IIHS
 
 
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