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paired mesoderm homeobox protein 2A isoform 4 [Homo sapiens]

NCBI Reference Sequence: NP_001412027.1

Identical Proteins FASTA Graphics 

LOCUS       NP_001412027             182 aa            linear   PRI 15-OCT-2024
DEFINITION  paired mesoderm homeobox protein 2A isoform 4 [Homo sapiens].
ACCESSION   NP_001412027
VERSION     NP_001412027.1
DBSOURCE    REFSEQ: accession NM_001425098.1
KEYWORDS    RefSeq.
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 182)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (residues 1 to 182)
  AUTHORS   Song,N.N., Ma,P., Zhang,Q., Zhang,L., Wang,H., Zhang,L., Zhu,L.,
            He,C.H., Mao,B. and Ding,Y.Q.
  TITLE     Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for
            noradrenergic neuron development
  JOURNAL   Development 147 (6) (2020)
   PUBMED   32094113
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 182)
  AUTHORS   Heidary,G., Mackinnon,S., Elliott,A., Barry,B.J., Engle,E.C. and
            Hunter,D.G.
  TITLE     Outcomes of strabismus surgery in genetically confirmed congenital
            fibrosis of the extraocular muscles
  JOURNAL   J AAPOS 23 (5), 253 (2019)
   PUBMED   31541710
  REMARK    GeneRIF: Outcomes of strabismus surgery in genetically confirmed
            congenital fibrosis of the extraocular muscles.
REFERENCE   4  (residues 1 to 182)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (residues 1 to 182)
  AUTHORS   Di Lascio,S., Saba,E., Belperio,D., Raimondi,A., Lucchetti,H.,
            Fornasari,D. and Benfante,R.
  TITLE     PHOX2A and PHOX2B are differentially regulated during retinoic
            acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line
  JOURNAL   Exp Cell Res 342 (1), 62-71 (2016)
   PUBMED   26902400
  REMARK    GeneRIF: PHOX2A expression is finely controlled during retinoic
            acid differentiation and this, together with PHOX2B
            down-regulation.
REFERENCE   6  (residues 1 to 182)
  AUTHORS   Wang,S.M., Zwaan,J., Mullaney,P.B., Jabak,M.H., Al-Awad,A.,
            Beggs,A.H. and Engle,E.C.
  TITLE     Congenital fibrosis of the extraocular muscles type 2, an inherited
            exotropic strabismus fixus, maps to distal 11q13
  JOURNAL   Am J Hum Genet 63 (2), 517-525 (1998)
   PUBMED   9683611
REFERENCE   7  (residues 1 to 182)
  AUTHORS   Swanson,D.J., Zellmer,E. and Lewis,E.J.
  TITLE     The homeodomain protein Arix interacts synergistically with cyclic
            AMP to regulate expression of neurotransmitter biosynthetic genes
  JOURNAL   J Biol Chem 272 (43), 27382-27392 (1997)
   PUBMED   9341190
REFERENCE   8  (residues 1 to 182)
  AUTHORS   Merscher,S., Bekri,S., de Leeuw,B., Pedeutour,F., Grosgeorge,J.,
            Shows,T.B., Mullenbach,R., Le Paslier,D., Nowak,N.J. and Gaudray,P.
  TITLE     A 5.5-Mb high-resolution integrated map of distal 11q13
  JOURNAL   Genomics 39 (3), 340-347 (1997)
   PUBMED   9119371
REFERENCE   9  (residues 1 to 182)
  AUTHORS   Johnson,K.R., Smith,L., Johnson,D.K., Rhodes,J., Rinchik,E.M.,
            Thayer,M. and Lewis,E.J.
  TITLE     Mapping of the ARIX homeodomain gene to mouse chromosome 7 and
            human chromosome 11q13
  JOURNAL   Genomics 33 (3), 527-531 (1996)
   PUBMED   8661014
REFERENCE   10 (residues 1 to 182)
  AUTHORS   Whitman,M.C., Jurgens,J.A., Hunter,D.G. and Engle,E.C.
  TITLE     Congenital Fibrosis of the Extraocular Muscles Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000593.4.
            
            Summary: The protein encoded by this gene contains a paired-like
            homeodomain most similar to that of the Drosophila aristaless gene
            product. The encoded protein plays a central role in development of
            the autonomic nervous system. It regulates the expression of
            tyrosine hydroxylase and dopamine beta-hydroxylase, two
            catecholaminergic biosynthetic enzymes essential for the
            differentiation and maintenance of the noradrenergic
            neurotransmitter phenotype. The encoded protein has also been shown
            to regulate transcription of the alpha3 nicotinic acetylcholine
            receptor gene. Mutations in this gene have been associated with
            autosomal recessive congenital fibrosis of the extraocular muscles.
            [provided by RefSeq, Jul 2008].
            
            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 :: ERR4352444.644810.1,
                                           ERR4368410.501314.1 [ECO:0000332]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..182
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..182
                     /product="paired mesoderm homeobox protein 2A isoform 4"
                     /note="arix homeodomain protein; aristaless homeobox
                     homolog; paired mesoderm homeobox protein 2A; ARIX1
                     homeodomain protein; aristaless homeobox protein homolog"
                     /calculated_mol_wt=20486
     CDS             1..182
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /coded_by="NM_001425098.1:173..721"
                     /note="isoform 4 is encoded by transcript variant 4"
                     /db_xref="GeneID:401"
                     /db_xref="HGNC:HGNC:691"
                     /db_xref="MIM:602753"
ORIGIN      
        1 mdysylnsyd scvaameasa ygdfgacsqp ggfqysplrp afpaagppcp algssncalg
       61 alrdhqpapy savpykffpe psglhekrkq rrirttftsa qlkelervfa ethypdiytr
      121 eelalkidlt earvqmfswp altgcprqkv ywrpkllsta lehsrrevpe lpkrrnwgkn
      181 le
//
Feature
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