NNAT_HUMAN
ID NNAT_HUMAN Reviewed; 81 AA.
AC Q16517; B2R558; E1P5V6; Q16596; Q5U0N3;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Neuronatin;
GN Name=NNAT;
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 [MRNA] (ISOFORMS ALPHA AND BETA).
RC TISSUE=Fetal brain, and Placenta;
RX PubMed=8813377; DOI=10.1016/0006-8993(96)00167-9;
RA Dou D., Joseph R.;
RT "Cloning of human neuronatin gene and its localization to chromosome-20q
RT 11.2-12: the deduced protein is a novel 'proteolipid'.";
RL Brain Res. 723:8-22(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
RC TISSUE=Placenta;
RX PubMed=8660979; DOI=10.1006/geno.1996.0195;
RA Dou D., Joseph R.;
RT "Structure and organization of the human neuronatin gene.";
RL Genomics 33:292-297(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA).
RC TISSUE=Pituitary adenoma;
RX PubMed=9356927; DOI=10.1007/bf02789395;
RA Usui H., Morii K., Tanaka R., Tamura T., Washiyama K., Ichikawa T.,
RA Kumanishi T.;
RT "cDNA cloning and mRNA expression analysis of the human neuronatin. High
RT level expression in human pituitary gland and pituitary adenomas.";
RL J. Mol. Neurosci. 9:55-60(1997).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM ALPHA).
RC TISSUE=Eye;
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 -!- FUNCTION: May participate in the maintenance of segment identity in the
CC hindbrain and pituitary development, and maturation or maintenance of
CC the overall structure of the nervous system. May function as a
CC regulatory subunit of ion channels.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=Alpha;
CC IsoId=Q16517-1; Sequence=Displayed;
CC Name=Beta;
CC IsoId=Q16517-2; Sequence=VSP_004331;
CC -!- DEVELOPMENTAL STAGE: Abundant in 18-24 week old fetal brain.
CC Postnatally its expression decline and only minimal levels were present
CC in adulthood.
CC -!- SIMILARITY: Belongs to the neuronatin family. {ECO:0000305}.
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DR EMBL; U25033; AAA93224.1; -; mRNA.
DR EMBL; U25034; AAA93225.1; -; mRNA.
DR EMBL; U31767; AAC50627.1; -; Genomic_DNA.
DR EMBL; U31767; AAC50626.1; -; Genomic_DNA.
DR EMBL; AB002392; BAA25016.1; -; mRNA.
DR EMBL; AK312069; BAG35005.1; -; mRNA.
DR EMBL; BT019426; AAV38233.1; -; mRNA.
DR EMBL; AL109614; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76059.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76060.1; -; Genomic_DNA.
DR EMBL; BC001768; AAH01768.1; -; mRNA.
DR CCDS; CCDS13296.1; -. [Q16517-1]
DR CCDS; CCDS13297.1; -. [Q16517-2]
DR PIR; G01783; G01783.
DR RefSeq; NP_001309731.1; NM_001322802.1.
DR RefSeq; NP_005377.1; NM_005386.3. [Q16517-1]
DR RefSeq; NP_859017.1; NM_181689.2. [Q16517-2]
DR AlphaFoldDB; Q16517; -.
DR SMR; Q16517; -.
DR BioGRID; 110890; 3.
DR IntAct; Q16517; 1.
DR STRING; 9606.ENSP00000062104; -.
DR TCDB; 1.A.50.7.1; the phospholamban (ca(2+)-channel and ca(2+)-atpase regulator) (plb) family.
DR iPTMnet; Q16517; -.
DR PhosphoSitePlus; Q16517; -.
DR BioMuta; NNAT; -.
DR PaxDb; Q16517; -.
DR PeptideAtlas; Q16517; -.
DR PRIDE; Q16517; -.
DR ProteomicsDB; 60889; -. [Q16517-1]
DR ProteomicsDB; 60890; -. [Q16517-2]
DR TopDownProteomics; Q16517-1; -. [Q16517-1]
DR Antibodypedia; 26750; 57 antibodies from 15 providers.
DR DNASU; 4826; -.
DR Ensembl; ENST00000346199.3; ENSP00000335497.2; ENSG00000053438.11. [Q16517-2]
DR Ensembl; ENST00000649451.1; ENSP00000497164.1; ENSG00000053438.11. [Q16517-1]
DR GeneID; 4826; -.
DR KEGG; hsa:4826; -.
DR MANE-Select; ENST00000649451.1; ENSP00000497164.1; NM_005386.4; NP_005377.1.
DR UCSC; uc002xhd.4; human. [Q16517-1]
DR CTD; 4826; -.
DR DisGeNET; 4826; -.
DR GeneCards; NNAT; -.
DR HGNC; HGNC:7860; NNAT.
DR HPA; ENSG00000053438; Tissue enriched (pituitary).
DR MIM; 603106; gene.
DR neXtProt; NX_Q16517; -.
DR OpenTargets; ENSG00000053438; -.
DR PharmGKB; PA31665; -.
DR VEuPathDB; HostDB:ENSG00000053438; -.
DR eggNOG; ENOG502TDP2; Eukaryota.
DR GeneTree; ENSGT00390000007412; -.
DR HOGENOM; CLU_152636_0_0_1; -.
DR InParanoid; Q16517; -.
DR OMA; VMGERRQ; -.
DR OrthoDB; 1502560at2759; -.
DR PhylomeDB; Q16517; -.
DR TreeFam; TF338710; -.
DR PathwayCommons; Q16517; -.
DR SignaLink; Q16517; -.
DR BioGRID-ORCS; 4826; 7 hits in 1064 CRISPR screens.
DR ChiTaRS; NNAT; human.
DR GenomeRNAi; 4826; -.
DR Pharos; Q16517; Tbio.
DR PRO; PR:Q16517; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q16517; protein.
DR Bgee; ENSG00000053438; Expressed in ganglionic eminence and 179 other tissues.
DR ExpressionAtlas; Q16517; baseline and differential.
DR Genevisible; Q16517; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0007420; P:brain development; IBA:GO_Central.
DR GO; GO:0032024; P:positive regulation of insulin secretion; IBA:GO_Central.
DR GO; GO:0009249; P:protein lipoylation; TAS:ProtInc.
DR InterPro; IPR024885; Neuronatin.
DR PANTHER; PTHR15285; PTHR15285; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Reference proteome.
FT CHAIN 1..81
FT /note="Neuronatin"
FT /id="PRO_0000096882"
FT VAR_SEQ 25..51
FT /note="Missing (in isoform Beta)"
FT /evidence="ECO:0000303|PubMed:8813377"
FT /id="VSP_004331"
FT CONFLICT 64
FT /note="V -> L (in Ref. 5; AAV38233)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 81 AA; 9237 MW; 067086C7663E3D20 CRC64;
MAAVAAASAE LLIIGWYIFR VLLQVFLECC IYWVGFAFRN PPGTQPIARS EVFRYSLQKL
AYTVSRTGRQ VLGERRQRAP N
