PNMA3_HUMAN
ID PNMA3_HUMAN Reviewed; 463 AA.
AC Q9UL41; D3DWT7; Q9H0A4;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 3.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Paraneoplastic antigen Ma3;
GN Name=PNMA3; Synonyms=MA3;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Brain stem;
RX PubMed=11558790; DOI=10.1002/ana.1288.abs;
RA Rosenfeld M.R., Eichen J.G., Wade D.F., Posner J.B., Dalmau J.;
RT "Molecular and clinical diversity in paraneoplastic immunity to Ma
RT proteins.";
RL Ann. Neurol. 50:339-348(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=16214224; DOI=10.1016/j.jneuroim.2005.08.019;
RA Schueller M., Jenne D.E., Voltz R.;
RT "The human PNMA family: novel neuronal proteins implicated in
RT paraneoplastic neurological disease.";
RL J. Neuroimmunol. 169:172-176(2005).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=19366867; DOI=10.1093/cercor/bhp062;
RA Takaji M., Komatsu Y., Watakabe A., Hashikawa T., Yamamori T.;
RT "Paraneoplastic antigen-like 5 gene (PNMA5) is preferentially expressed in
RT the association areas in a primate specific manner.";
RL Cereb. Cortex 19:2865-2879(2009).
CC -!- INTERACTION:
CC Q9UL41; Q7Z2E3-7: APTX; NbExp=3; IntAct=EBI-11278955, EBI-12298187;
CC Q9UL41; Q9UFG5: C19orf25; NbExp=3; IntAct=EBI-11278955, EBI-741214;
CC Q9UL41; Q8NE01: CNNM3; NbExp=3; IntAct=EBI-11278955, EBI-741032;
CC Q9UL41; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-11278955, EBI-739832;
CC Q9UL41; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-11278955, EBI-14086479;
CC Q9UL41; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-11278955, EBI-1567797;
CC Q9UL41; Q9UNE2: RPH3AL; NbExp=3; IntAct=EBI-11278955, EBI-2855824;
CC Q9UL41; Q9NYZ2: SLC25A37; NbExp=3; IntAct=EBI-11278955, EBI-13074156;
CC Q9UL41; Q9H0W8: SMG9; NbExp=3; IntAct=EBI-11278955, EBI-2872322;
CC Q9UL41; Q6B0B8: TIGD3; NbExp=3; IntAct=EBI-11278955, EBI-12140557;
CC Q9UL41; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-11278955, EBI-947187;
CC Q9UL41; Q9UFB7: ZBTB47; NbExp=3; IntAct=EBI-11278955, EBI-7781767;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UL41-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UL41-2; Sequence=VSP_023571;
CC -!- TISSUE SPECIFICITY: Expressed at high levels in the brain and testis.
CC Expressed at lower levels in the heart, trachea and kidney.
CC {ECO:0000269|PubMed:11558790, ECO:0000269|PubMed:16214224,
CC ECO:0000269|PubMed:19366867}.
CC -!- MISCELLANEOUS: Antibodies against PNMA3 are present in sera from
CC patients suffering of paraneoplastic neurological disorders.
CC -!- SIMILARITY: Belongs to the PNMA family. {ECO:0000305}.
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DR EMBL; AF083116; AAF05627.1; -; mRNA.
DR EMBL; AL136878; CAB66812.1; -; mRNA.
DR EMBL; AC243428; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471172; EAW72888.1; -; Genomic_DNA.
DR EMBL; CH471172; EAW72889.1; -; Genomic_DNA.
DR EMBL; BC105096; AAI05097.1; -; mRNA.
DR EMBL; BC105098; AAI05099.1; -; mRNA.
DR CCDS; CCDS35435.2; -. [Q9UL41-1]
DR CCDS; CCDS65344.1; -. [Q9UL41-2]
DR RefSeq; NP_001269464.1; NM_001282535.1. [Q9UL41-2]
DR RefSeq; NP_037496.4; NM_013364.5. [Q9UL41-1]
DR AlphaFoldDB; Q9UL41; -.
DR BioGRID; 118981; 18.
DR IntAct; Q9UL41; 17.
DR STRING; 9606.ENSP00000469445; -.
DR iPTMnet; Q9UL41; -.
DR PhosphoSitePlus; Q9UL41; -.
DR BioMuta; PNMA3; -.
DR DMDM; 296452862; -.
DR EPD; Q9UL41; -.
DR MassIVE; Q9UL41; -.
DR MaxQB; Q9UL41; -.
DR PaxDb; Q9UL41; -.
DR PeptideAtlas; Q9UL41; -.
DR PRIDE; Q9UL41; -.
DR ProteomicsDB; 84942; -. [Q9UL41-1]
DR ProteomicsDB; 84943; -. [Q9UL41-2]
DR Antibodypedia; 45169; 201 antibodies from 14 providers.
DR DNASU; 29944; -.
DR Ensembl; ENST00000424805.1; ENSP00000390576.1; ENSG00000183837.10. [Q9UL41-1]
DR Ensembl; ENST00000593810.3; ENSP00000469445.1; ENSG00000183837.10. [Q9UL41-1]
DR Ensembl; ENST00000619635.1; ENSP00000480719.1; ENSG00000183837.10. [Q9UL41-2]
DR GeneID; 29944; -.
DR KEGG; hsa:29944; -.
DR MANE-Select; ENST00000593810.3; ENSP00000469445.1; NM_013364.6; NP_037496.4.
DR UCSC; uc033faq.1; human. [Q9UL41-1]
DR CTD; 29944; -.
DR GeneCards; PNMA3; -.
DR HGNC; HGNC:18742; PNMA3.
DR HPA; ENSG00000183837; Tissue enhanced (epididymis).
DR MIM; 300675; gene.
DR neXtProt; NX_Q9UL41; -.
DR OpenTargets; ENSG00000183837; -.
DR PharmGKB; PA38667; -.
DR VEuPathDB; HostDB:ENSG00000183837; -.
DR eggNOG; ENOG502SKT0; Eukaryota.
DR GeneTree; ENSGT01030000234522; -.
DR HOGENOM; CLU_014694_0_1_1; -.
DR InParanoid; Q9UL41; -.
DR OMA; NCPAPRV; -.
DR OrthoDB; 820525at2759; -.
DR PhylomeDB; Q9UL41; -.
DR TreeFam; TF335054; -.
DR PathwayCommons; Q9UL41; -.
DR SignaLink; Q9UL41; -.
DR BioGRID-ORCS; 29944; 6 hits in 693 CRISPR screens.
DR GenomeRNAi; 29944; -.
DR Pharos; Q9UL41; Tbio.
DR PRO; PR:Q9UL41; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9UL41; protein.
DR Bgee; ENSG00000183837; Expressed in right frontal lobe and 154 other tissues.
DR Genevisible; Q9UL41; HS.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0043065; P:positive regulation of apoptotic process; ISS:UniProtKB.
DR InterPro; IPR026523; PNMA.
DR InterPro; IPR026529; PNMA3.
DR InterPro; IPR001878; Znf_CCHC.
DR InterPro; IPR036875; Znf_CCHC_sf.
DR PANTHER; PTHR23095; PTHR23095; 1.
DR PANTHER; PTHR23095:SF22; PTHR23095:SF22; 1.
DR Pfam; PF14893; PNMA; 1.
DR SUPFAM; SSF57756; SSF57756; 1.
DR PROSITE; PS50158; ZF_CCHC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Nucleus; Reference proteome;
KW Tumor antigen; Zinc; Zinc-finger.
FT CHAIN 1..463
FT /note="Paraneoplastic antigen Ma3"
FT /id="PRO_0000280215"
FT ZN_FING 412..429
FT /note="CCHC-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00047"
FT REGION 363..410
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 440..463
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 384..410
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 436..463
FT /note="VKQKKQAAVESGNGNWAWDKSHPKSKAK -> AKETKEILEGGEREAQTNSR
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_023571"
FT VARIANT 382
FT /note="G -> S (in dbSNP:rs36042591)"
FT /id="VAR_057701"
FT VARIANT 386
FT /note="R -> Q (in dbSNP:rs35603712)"
FT /id="VAR_057702"
FT CONFLICT 377
FT /note="A -> V (in Ref. 4; EAW72888/EAW72889)"
SQ SEQUENCE 463 AA; 52376 MW; 0843EF6601D8557C CRC64;
MPLTLLQDWC RGEHLNTRRC MLILGIPEDC GEDEFEETLQ EACRHLGRYR VIGRMFRREE
NAQAILLELA QDIDYALLPR EIPGKGGPWE VIVKPRNSDG EFLNRLNRFL EEERRTVSDM
NRVLGSDTNC SAPRVTISPE FWTWAQTLGA AVQPLLEQML YRELRVFSGN TISIPGALAF
DAWLEHTTEM LQMWQVPEGE KRRRLMECLR GPALQVVSGL RASNASITVE ECLAALQQVF
GPVESHKIAQ VKLCKAYQEA GEKVSSFVLR LEPLLQRAVE NNVVSRRNVN QTRLKRVLSG
ATLPDKLRDK LKLMKQRRKP PGFLALVKLL REEEEWEATL GPDRESLEGL EVAPRPPARI
TGVGAVPLPA SGNSFDARPS QGYRRRRGRG QHRRGGVARA GSRGSRKRKR HTFCYSCGED
GHIRVQCINP SNLLLVKQKK QAAVESGNGN WAWDKSHPKS KAK
