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 18-MAR-2008, entry version 29. DE 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; RG The German cDNA consortium; RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 226-439 (ISOFORM 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 [3] 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 [4] 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 [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). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q86V59-1; Sequence=Displayed; CC Name=2; CC IsoId=Q86V59-2; Sequence=VSP_032441, VSP_032442; CC Name=3; CC IsoId=Q86V59-3; Sequence=VSP_032439, VSP_032440; CC Note=No experimental confirmation available; CC -!- SIMILARITY: Belongs to the PNMA family. CC -!- SEQUENCE CAUTION: CC Sequence=BAF82907.1; Type=Erroneous translation; Note=Wrong choice of CDS; 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; AK001643; BAA91804.1; ALT_INIT; mRNA. DR EMBL; AK290218; BAF82907.1; ALT_SEQ; mRNA. DR EMBL; CH471126; EAW57420.1; ALT_INIT; Genomic_DNA. DR EMBL; CH471126; EAW57421.1; -; Genomic_DNA. DR EMBL; BC026026; AAH26026.1; ALT_INIT; mRNA. DR EMBL; BC032508; AAH32508.1; -; mRNA. DR EMBL; BC051688; AAH51688.2; -; mRNA. DR RefSeq; NP_060685.2; -. DR UniGene; Hs.8395; -. DR Ensembl; ENSG00000182013; Homo sapiens. DR GeneID; 55228; -. DR KEGG; hsa:55228; -. DR HGNC; HGNC:25578; PNMAL1. DR ArrayExpress; Q86V59; -. PE 2: Evidence at transcript level; KW Alternative splicing; Polymorphism. FT CHAIN 1 439 PNMA-like protein 1. FT /FTId=PRO_0000325836. FT VAR_SEQ 174 203 ARAQEAAEFEEMAAWALAAGRKVKKEPGLA -> GEERTGA FT CSRGGFCLKGRDPQQLECHGRPA (in isoform 3). FT /FTId=VSP_032439. FT VAR_SEQ 204 439 Missing (in isoform 3). FT /FTId=VSP_032440. FT VAR_SEQ 367 378 VSLGPVSYVLVD -> NPERFDLGDHPY (in isoform FT 2). FT /FTId=VSP_032441. FT VAR_SEQ 379 439 Missing (in isoform 2). 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. 4; AAH32508). 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 //