NPAL2_HUMAN
ID NPAL2_HUMAN Reviewed; 383 AA.
AC Q9H841; A2RTY8;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 12-AUG-2020, sequence version 2.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=NIPA-like protein 2;
GN Name=NIPAL2; Synonyms=NPAL2;
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).
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=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (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).
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=Q9H841-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H841-1; Sequence=VSP_060660, VSP_060661;
CC -!- SIMILARITY: Belongs to the NIPA family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK024017; BAB14779.1; -; mRNA.
DR EMBL; AP003438; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP003439; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132687; AAI32688.1; -; mRNA.
DR EMBL; BC144055; AAI44056.1; -; mRNA.
DR CCDS; CCDS6278.1; -. [Q9H841-1]
DR CCDS; CCDS83310.1; -. [Q9H841-2]
DR RefSeq; NP_001308564.1; NM_001321635.1. [Q9H841-2]
DR RefSeq; NP_001308565.1; NM_001321636.1.
DR RefSeq; NP_079035.1; NM_024759.2. [Q9H841-1]
DR AlphaFoldDB; Q9H841; -.
DR BioGRID; 122910; 2.
DR IntAct; Q9H841; 1.
DR MINT; Q9H841; -.
DR STRING; 9606.ENSP00000339256; -.
DR GlyGen; Q9H841; 3 sites.
DR iPTMnet; Q9H841; -.
DR PhosphoSitePlus; Q9H841; -.
DR BioMuta; NIPAL2; -.
DR DMDM; 74733759; -.
DR EPD; Q9H841; -.
DR jPOST; Q9H841; -.
DR MassIVE; Q9H841; -.
DR PaxDb; Q9H841; -.
DR PeptideAtlas; Q9H841; -.
DR PRIDE; Q9H841; -.
DR ProteomicsDB; 490; -.
DR Antibodypedia; 26067; 95 antibodies from 18 providers.
DR DNASU; 79815; -.
DR Ensembl; ENST00000341166.3; ENSP00000339256.3; ENSG00000104361.10. [Q9H841-1]
DR Ensembl; ENST00000430223.7; ENSP00000407087.2; ENSG00000104361.10. [Q9H841-2]
DR GeneID; 79815; -.
DR KEGG; hsa:79815; -.
DR MANE-Select; ENST00000430223.7; ENSP00000407087.2; NM_001321635.2; NP_001308564.1.
DR UCSC; uc003yil.2; human. [Q9H841-2]
DR CTD; 79815; -.
DR DisGeNET; 79815; -.
DR GeneCards; NIPAL2; -.
DR HGNC; HGNC:25854; NIPAL2.
DR HPA; ENSG00000104361; Low tissue specificity.
DR neXtProt; NX_Q9H841; -.
DR OpenTargets; ENSG00000104361; -.
DR PharmGKB; PA164723926; -.
DR VEuPathDB; HostDB:ENSG00000104361; -.
DR eggNOG; KOG2922; Eukaryota.
DR GeneTree; ENSGT00940000159321; -.
DR HOGENOM; CLU_012349_2_0_1; -.
DR InParanoid; Q9H841; -.
DR OMA; KCAHLRL; -.
DR OrthoDB; 754939at2759; -.
DR PhylomeDB; Q9H841; -.
DR TreeFam; TF313214; -.
DR PathwayCommons; Q9H841; -.
DR Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
DR SignaLink; Q9H841; -.
DR BioGRID-ORCS; 79815; 17 hits in 1062 CRISPR screens.
DR ChiTaRS; NIPAL2; human.
DR GenomeRNAi; 79815; -.
DR Pharos; Q9H841; Tdark.
DR PRO; PR:Q9H841; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9H841; protein.
DR Bgee; ENSG00000104361; Expressed in upper arm skin and 171 other tissues.
DR Genevisible; Q9H841; 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 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..383
FT /note="NIPA-like protein 2"
FT /id="PRO_0000242148"
FT TRANSMEM 46..66
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 88..108
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 144..164
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 177..197
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 209..229
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 243..263
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 278..298
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 306..326
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 355..383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 355..373
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 23
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 33
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 274
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 347..368
FT /note="GKQMLDKIQPDSHSLSYGTLPD -> DTTPERKAWRETNVGQNTTRFT (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_060660"
FT VAR_SEQ 369..383
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_060661"
SQ SEQUENCE 383 AA; 42156 MW; 663D9E818093D5E7 CRC64;
MAAVAPAGPG DSASAALDEL SLNFTYGAPG AGNGSLSGDW YRRNQIHLFG VLLAILGNLV
ISISLNIQKY SHLQLAQQEH PRPYFKSVLW WGGVLLMAVG ETGNFAAYGF APITLIAPLG
CVSVTGSAII SVTFLKDNLR ASDLLGTTLA FAGTYLLVNF APNITQAISA RTVQYYLVGW
QFLIYVILEI LIFCILLYFY KRKGMKHMVI LLTLVAILAS LTVISVKAVS GMITFSVMDK
MQLTYPIFYI MFIIMIASCV FQVKFLNQAT KLYNTTTVVP VNHIFFTISA IIAGIIFYQE
FLGAPFLTVF IYLFGCFLSF LGVFLVTRNR EKEHLQQSYI DFGNIPGKQM LDKIQPDSHS
LSYGTLPDGS DSTKSQSGEK KEV
