LOCUS       NP_061913                424 aa            linear   PRI 27-APR-2025
DEFINITION  elongator complex protein 4 isoform 1 [Homo sapiens].
ACCESSION   NP_061913
VERSION     NP_061913.3
DBSOURCE    REFSEQ: accession NM_019040.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 424)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (residues 1 to 424)
  AUTHORS   Li,K., Kong,D.S., Zhang,J., Wang,X.S., Ye,X. and Zhao,Y.L.
  TITLE     Association between ELP4 rs986527 polymorphism and the occurrence
            and development of intracranial arachnoid cyst
  JOURNAL   Brain Behav 9 (12), e01480 (2019)
   PUBMED   31743616
  REMARK    GeneRIF: ELP4 rs986527 polymorphism affected the incidence of
            clinical symptoms and the levels of TNF-alpha and IL-1beta in
            patients with intracranial Arachnoid Cysts.
REFERENCE   3  (residues 1 to 424)
  AUTHORS   Xu,Y., Zhou,W., Ji,Y., Shen,J., Zhu,X., Yu,H., Guo,J., Pang,Z. and
            Wei,W.
  TITLE     Elongator promotes the migration and invasion of hepatocellular
            carcinoma cell by the phosphorylation of AKT
  JOURNAL   Int J Biol Sci 14 (5), 518-530 (2018)
   PUBMED   29805303
  REMARK    GeneRIF: Elongator activated migration and invasion of
            hepatocellular carcinoma cells by promoting the expression of MMP-2
            and MMP-9 through the PI3K/AKT signaling pathway
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 424)
  AUTHORS   Kojic,M. and Wainwright,B.
  TITLE     The Many Faces of Elongator in Neurodevelopment and Disease
  JOURNAL   Front Mol Neurosci 9, 115 (2016)
   PUBMED   27847465
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 424)
  AUTHORS   Addis,L., Ahn,J.W., Dobson,R., Dixit,A., Ogilvie,C.M., Pinto,D.,
            Vaags,A.K., Coon,H., Chaste,P., Wilson,S., Parr,J.R., Andrieux,J.,
            Lenne,B., Tumer,Z., Leuzzi,V., Aubell,K., Koillinen,H., Curran,S.,
            Marshall,C.R., Scherer,S.W., Strug,L.J., Collier,D.A. and Pal,D.K.
  TITLE     Microdeletions of ELP4 Are Associated with Language Impairment,
            Autism Spectrum Disorder, and Mental Retardation
  JOURNAL   Hum Mutat 36 (9), 842-850 (2015)
   PUBMED   26010655
  REMARK    GeneRIF: Our results suggest that ELP4 deletions are highly likely
            to be pathogenic, predisposing to a range of neurodevelopmental
            phenotypes from ASD to language impairment and epilepsy.
REFERENCE   6  (residues 1 to 424)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (residues 1 to 424)
  AUTHORS   Kim,J.H., Lane,W.S. and Reinberg,D.
  TITLE     Human Elongator facilitates RNA polymerase II transcription through
            chromatin
  JOURNAL   Proc Natl Acad Sci U S A 99 (3), 1241-1246 (2002)
   PUBMED   11818576
REFERENCE   8  (residues 1 to 424)
  AUTHORS   Kleinjan,D.A., Seawright,A., Elgar,G. and van Heyningen,V.
  TITLE     Characterization of a novel gene adjacent to PAX6, revealing
            synteny conservation with functional significance
  JOURNAL   Mamm Genome 13 (2), 102-107 (2002)
   PUBMED   11889558
REFERENCE   9  (residues 1 to 424)
  AUTHORS   Hawkes,N.A., Otero,G., Winkler,G.S., Marshall,N., Dahmus,M.E.,
            Krappmann,D., Scheidereit,C., Thomas,C.L., Schiavo,G.,
            Erdjument-Bromage,H., Tempst,P. and Svejstrup,J.Q.
  TITLE     Purification and characterization of the human elongator complex
  JOURNAL   J Biol Chem 277 (4), 3047-3052 (2002)
   PUBMED   11714725
REFERENCE   10 (residues 1 to 424)
  AUTHORS   Winkler,G.S., Petrakis,T.G., Ethelberg,S., Tokunaga,M.,
            Erdjument-Bromage,H., Tempst,P. and Svejstrup,J.Q.
  TITLE     RNA polymerase II elongator holoenzyme is composed of two discrete
            subcomplexes
  JOURNAL   J Biol Chem 276 (35), 32743-32749 (2001)
   PUBMED   11435442
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK000505.1, BM680240.1,
            D59285.1, BF969161.1, BQ083338.1 and Z83307.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 7, 2006 this sequence version replaced NP_061913.2.
            
            Summary: This gene encodes a component of the six subunit elongator
            complex, a histone acetyltransferase complex that associates
            directly with RNA polymerase II during transcriptional elongation.
            The human gene can partially complement sensitivity phenotypes of
            yeast ELP4 deletion mutants. This gene has also been associated
            with Rolandic epilepsy. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Dec 2013].
            
            Transcript Variant: This variant (1) represents the shortest
            transcript and encodes the shortest protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.26083.1,
                                           SRR1660803.84621.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000640961.2/ ENSP00000492152.1
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..424
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     Protein         1..424
                     /product="elongator complex protein 4 isoform 1"
                     /note="elongator complex protein 4; PAX6 neighbor gene
                     protein; elongation protein 4 homolog"
                     /calculated_mol_wt=46457
     Region          45..424
                     /region_name="PAXNEB"
                     /note="PAXNEB protein; pfam05625"
                     /db_xref="CDD:461696"
     CDS             1..424
                     /gene="ELP4"
                     /gene_synonym="AN; AN2; C11orf19; dJ68P15A.1; hELP4;
                     PAX6NEB; PAXNEB"
                     /coded_by="NM_019040.5:19..1293"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS7875.2"
                     /db_xref="GeneID:26610"
                     /db_xref="HGNC:HGNC:1171"
                     /db_xref="MIM:606985"
ORIGIN      
        1 maavatcgsv aastgsavat asksnvtsfq rrgprasvtn dsgprlvsia gtrpsvrngq
       61 llvstglpal dqllggglav gtvllieedk yniyspllfk yflaegivng htllvasake
      121 dpanilqelp apllddkckk efdedvynhk tpesnikmki awryqllpkm eigpvsssrf
      181 ghyydaskrm pqelieasnw hgfflpekis stlkvepcsl tpgytkllqf iqniiyeegf
      241 dgsnpqkkqr nilrigiqnl gsplwgddic caenggnshs ltkflyvlrg llrtslsaci
      301 itmpthliqn kaiiarvttl sdvvvglesf igseretnpl ykdyhglihi rqiprlnnli
      361 cdesdvkdla fklkrklfti erlhlppdls dtvsrsskmd laesakrlgp gcgmmaggkk
      421 hldf
//
