NTM2A_HUMAN
ID NTM2A_HUMAN Reviewed; 878 AA.
AC Q8IVF1; A6NMX5; C9JDI1; Q5VZW1;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 4.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=NUT family member 2A;
GN Name=NUTM2A; Synonyms=FAM22A, KIAA2020;
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).
RC TISSUE=Brain;
RA Nagase T., Kikuno R., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IVF1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IVF1-2; Sequence=VSP_034018, VSP_034020;
CC -!- SIMILARITY: Belongs to the NUT family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC23116.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB095940; BAC23116.1; ALT_FRAME; mRNA.
DR EMBL; AL157893; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS44452.1; -. [Q8IVF1-1]
DR RefSeq; NP_001009610.1; NM_001009610.1.
DR RefSeq; NP_001092808.1; NM_001099338.1. [Q8IVF1-1]
DR RefSeq; XP_011538424.1; XM_011540122.2. [Q8IVF1-1]
DR RefSeq; XP_016872096.1; XM_017016607.1. [Q8IVF1-2]
DR AlphaFoldDB; Q8IVF1; -.
DR BioGRID; 608554; 1.
DR IntAct; Q8IVF1; 2.
DR STRING; 9606.ENSP00000371126; -.
DR iPTMnet; Q8IVF1; -.
DR PhosphoSitePlus; Q8IVF1; -.
DR BioMuta; NUTM2A; -.
DR DMDM; 269849751; -.
DR jPOST; Q8IVF1; -.
DR MassIVE; Q8IVF1; -.
DR PaxDb; Q8IVF1; -.
DR PeptideAtlas; Q8IVF1; -.
DR PRIDE; Q8IVF1; -.
DR ProteomicsDB; 70686; -. [Q8IVF1-1]
DR Antibodypedia; 70852; 9 antibodies from 5 providers.
DR DNASU; 728118; -.
DR Ensembl; ENST00000381689.4; ENSP00000371107.3; ENSG00000184923.12. [Q8IVF1-2]
DR Ensembl; ENST00000381707.6; ENSP00000371126.1; ENSG00000184923.12. [Q8IVF1-1]
DR GeneID; 728118; -.
DR GeneID; 728130; -.
DR KEGG; hsa:728118; -.
DR KEGG; hsa:728130; -.
DR MANE-Select; ENST00000381707.6; ENSP00000371126.1; NM_001099338.2; NP_001092808.1.
DR UCSC; uc001kek.4; human. [Q8IVF1-1]
DR CTD; 728118; -.
DR CTD; 728130; -.
DR DisGeNET; 728118; -.
DR DisGeNET; 728130; -.
DR GeneCards; NUTM2A; -.
DR HGNC; HGNC:23438; NUTM2A.
DR HPA; ENSG00000184923; Tissue enhanced (brain).
DR MalaCards; NUTM2A; -.
DR neXtProt; NX_Q8IVF1; -.
DR OpenTargets; ENSG00000184923; -.
DR Orphanet; 213711; Endometrial stromal sarcoma.
DR PharmGKB; PA134875735; -.
DR VEuPathDB; HostDB:ENSG00000184923; -.
DR eggNOG; ENOG502RU0F; Eukaryota.
DR GeneTree; ENSGT00410000025793; -.
DR HOGENOM; CLU_021726_0_0_1; -.
DR InParanoid; Q8IVF1; -.
DR OMA; QTGMARS; -.
DR OrthoDB; 425279at2759; -.
DR PhylomeDB; Q8IVF1; -.
DR TreeFam; TF337728; -.
DR PathwayCommons; Q8IVF1; -.
DR SignaLink; Q8IVF1; -.
DR BioGRID-ORCS; 728118; 51 hits in 631 CRISPR screens.
DR BioGRID-ORCS; 728130; 4 hits in 103 CRISPR screens.
DR ChiTaRS; NUTM2A; human.
DR Pharos; Q8IVF1; Tdark.
DR PRO; PR:Q8IVF1; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8IVF1; protein.
DR Bgee; ENSG00000184923; Expressed in sural nerve and 95 other tissues.
DR Genevisible; Q8IVF1; HS.
DR InterPro; IPR024310; NUT.
DR InterPro; IPR024309; NUT_N.
DR PANTHER; PTHR22879; PTHR22879; 1.
DR Pfam; PF12881; NUT; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..878
FT /note="NUT family member 2A"
FT /id="PRO_0000266032"
FT REGION 273..324
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 417..566
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 627..757
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 775..878
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 276..290
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 427..448
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 461..476
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 537..553
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 669..683
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 863..878
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 618..629
FT /note="LVEKRLLPLKEK -> GAPSDAPGTDRC (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_034018"
FT VAR_SEQ 630..878
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_034020"
FT CONFLICT 47
FT /note="K -> E (in Ref. 1; BAC23116)"
FT /evidence="ECO:0000305"
FT CONFLICT 160
FT /note="A -> T (in Ref. 1; BAC23116)"
FT /evidence="ECO:0000305"
FT CONFLICT 546
FT /note="E -> K (in Ref. 1; BAC23116)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 878 AA; 93890 MW; B65B88FE85A912A1 CRC64;
MEVKGPSGRS FCCESEGQFK SCLKRHTPSL LLPSSWKGNS GSCLMAKALH RMSPTPNSCP
LPLPLCRMSG VLCSRNLFTF KFSLFQLDSG ASGEPGHSLG LTLGFSHCGN CQTAVVSAQP
EGMASNGAYP ALGPGVTANP GTSLSVFTAL PFTTPAPGPA HGPLLVTAGA PPGGPLVLST
LPSTPLVTEQ DGCGPSGAGA SNVFVQMRTE VGPVKAAQAQ TLVLTQAPLV WQAPGALCGG
VVCPPPLLLA AAPVVPVMAA QVVGGTQACE GGWSQGLPLP PPPPPAAQLP PIVSQGNAGP
WPQGAHGEGS LASSQAKAPP DDSCNPRSVY ENFRLWQHYK PLARRHLPQS PDTEALSCFL
IPVLRSLARR KPTMTLEEGL WRAMREWQHT SNFDRMIFYE MAEKFLEFEA EEEMQIQKSQ
WMKGPQCLPP PATPRLEPRG PPAPEVVKQP VYLPSKAGPK APTACLPPPR PQRPVTKARR
PPPRPHRRAE TKARLPPPRP QRPAETKVPE EIPPEVVQEY VDIMEELLGP SLGATGEPEK
QREEGEVKQP QEEDWTPPDP GLLSYTDKLC SQKDFVTKVE AVIHPQFLEE LLSPDPQMDF
LALSQELEQE EGLTLAQLVE KRLLPLKEKQ HARAAPSRGT ARLDSSSSKF AAGQGAERDV
PVPQQGVGME TCPPQTTARD SQGRGRAHTG MARSKDSVVL LGCQDSPGLR AARPTSPPQD
HRPTCPGVGT KDALDLPGGS PVRESHGLAQ GSSEEEELPS LAFLLGSQHK LLPWWLPQSP
VPASGLLSPE KWGPQGTHQF PSAERRGLNL APSPANKAKK RPLFGSLSPA EKTPHPGPGL
RVSGEQSLTW GLGGPSQSQK RKGDPLVSRK EKKQRCSQ
