ID PNML1_HUMAN Reviewed; 439 AA. AC Q86V59; A8K2F3; Q5U638; Q8N3H4; Q9NVE8; DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot. DT 07-DEC-2004, sequence version 2. DT 02-NOV-2016, entry version 99. DE RecName: Full=PNMA-like protein 1; GN Name=PNMAL1; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Amygdala; 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., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Fetal brain, Neuroblastoma, and Testis; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-173 AND 195-439 (ISOFORM RP 1). RC TISSUE=Thalamus; 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [5] RP IDENTIFICATION. RX PubMed=16550607; DOI=10.1002/ijc.21901; RA Tews B., Felsberg J., Hartmann C., Kunitz A., Hahn M., Toedt G., RA Neben K., Hummerich L., von Deimling A., Reifenberger G., Lichter P.; RT "Identification of novel oligodendroglioma-associated candidate tumor RT suppressor genes in 1p36 and 19q13 using microarray-based expression RT profiling."; RL Int. J. Cancer 119:792-800(2006). RN [6] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [7] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q86V59-1; Sequence=Displayed; CC Name=2; CC IsoId=Q86V59-2; Sequence=VSP_032441, VSP_032442; CC -!- SIMILARITY: Belongs to the PNMA family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA91804.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; CC Sequence=BAF82907.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; CC Sequence=BAF82907.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Aberrant splice sites.; Evidence={ECO:0000305}; CC Sequence=EAW57420.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={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; AL834344; CAD39010.1; -; mRNA. DR EMBL; CH471126; EAW57420.1; ALT_INIT; Genomic_DNA. DR EMBL; CH471126; EAW57421.1; -; Genomic_DNA. DR EMBL; BC026026; AAH26026.2; -; mRNA. DR EMBL; BC032508; AAH32508.1; -; mRNA. DR EMBL; BC051688; AAH51688.2; -; mRNA. DR EMBL; AK001643; BAA91804.1; ALT_INIT; mRNA. DR EMBL; AK290218; BAF82907.1; ALT_SEQ; mRNA. DR CCDS; CCDS33059.1; -. [Q86V59-1] DR CCDS; CCDS46124.1; -. [Q86V59-2] DR RefSeq; NP_001096619.1; NM_001103149.1. [Q86V59-2] DR RefSeq; NP_060685.2; NM_018215.3. [Q86V59-1] DR UniGene; Hs.8395; -. DR ProteinModelPortal; Q86V59; -. DR BioGrid; 120523; 7. DR IntAct; Q86V59; 2. DR MINT; MINT-4719531; -. DR STRING; 9606.ENSP00000318131; -. DR iPTMnet; Q86V59; -. DR PhosphoSitePlus; Q86V59; -. DR BioMuta; PNMAL1; -. DR DMDM; 74727539; -. DR EPD; Q86V59; -. DR MaxQB; Q86V59; -. DR PaxDb; Q86V59; -. DR PeptideAtlas; Q86V59; -. DR PRIDE; Q86V59; -. DR DNASU; 55228; -. DR Ensembl; ENST00000313683; ENSP00000318131; ENSG00000182013. [Q86V59-1] DR Ensembl; ENST00000438932; ENSP00000410273; ENSG00000182013. [Q86V59-2] DR GeneID; 55228; -. DR KEGG; hsa:55228; -. DR UCSC; uc002peq.5; human. [Q86V59-1] DR CTD; 55228; -. DR GeneCards; PNMAL1; -. DR H-InvDB; HIX0015252; -. DR HGNC; HGNC:25578; PNMAL1. DR HPA; HPA012956; -. DR neXtProt; NX_Q86V59; -. DR OpenTargets; ENSG00000182013; -. DR PharmGKB; PA162399835; -. DR eggNOG; ENOG410IKIG; Eukaryota. DR eggNOG; ENOG41116VX; LUCA. DR GeneTree; ENSGT00530000062986; -. DR HOGENOM; HOG000115592; -. DR HOVERGEN; HBG108276; -. DR InParanoid; Q86V59; -. DR OMA; EGRTWED; -. DR OrthoDB; EOG091G0BG9; -. DR PhylomeDB; Q86V59; -. DR TreeFam; TF335054; -. DR ChiTaRS; PNMAL1; human. DR GeneWiki; FLJ10781; -. DR GenomeRNAi; 55228; -. DR PRO; PR:Q86V59; -. DR Proteomes; UP000005640; Chromosome 19. DR Bgee; ENSG00000182013; -. DR CleanEx; HS_PNMAL1; -. DR ExpressionAtlas; Q86V59; baseline and differential. DR Genevisible; Q86V59; HS. DR InterPro; IPR026523; PNMA. DR PANTHER; PTHR23095; PTHR23095; 2. DR Pfam; PF14893; PNMA; 1. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Polymorphism; KW Reference proteome. FT CHAIN 1 439 PNMA-like protein 1. FT /FTId=PRO_0000325836. FT VAR_SEQ 367 378 VSLGPVSYVLVD -> NPERFDLGDHPY (in isoform FT 2). {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_032441. FT VAR_SEQ 379 439 Missing (in isoform 2). FT {ECO:0000303|PubMed:17974005}. FT /FTId=VSP_032442. FT VARIANT 80 80 S -> T (in dbSNP:rs12610254). FT /FTId=VAR_039935. FT VARIANT 97 97 C -> Y (in dbSNP:rs7248888). FT /FTId=VAR_039936. FT CONFLICT 319 319 P -> S (in Ref. 3; AAH32508). FT {ECO:0000305}. SQ SEQUENCE 439 AA; 48161 MW; 43E43FA1CAEC1E81 CRC64; MSKTMAMNLL EDWCRGMEVD IHRSLLVTGI PEDCGQAEIE ETLNGVLSPL GPYRVLNKIF VREENVKAAL IEVGEGVNLS TIPREFPGRG GVWRVVCRDP TQDAEFLKNL NEFLDAEGRT WEDVVRLLQL NHPTLSQNQH QPPENWAEAL GVLLGAVVQI IFCMDAEIRS REEARAQEAA EFEEMAAWAL AAGRKVKKEP GLAAEVGSAL KAETPNNWNA TEDQHEPTKP LVRRAGAKSR SRRKKQKKNS RQEAVPWKKP KGINSNSTAN LEDPEVGDAE SMAISEPIKG SRKPCVNKEE LALKKPMAKC AWKGPREPPQ DARAEAESPG GASESDQDGG HESPPKKKAV AWVSAKNPAP MRKKKKVSLG PVSYVLVDSE DGRKKPVMPK KGPGSRREAS DQKAPRGQQP AEATASTSRG PKAKPEGSPR RATNESRKV //