LOCUS       NP_001269460            1102 aa            linear   PRI 25-APR-2025
DEFINITION  activity-dependent neuroprotector homeobox protein isoform 1 [Homo
            sapiens].
ACCESSION   NP_001269460 XP_005260411
VERSION     NP_001269460.1
DBSOURCE    REFSEQ: accession NM_001282531.3
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 1102)
  AUTHORS   Neuhaus,E., Rea,H., Jones,E., Benavidez,H., Miles,C., Whiting,A.,
            Johansson,M., Eayrs,C., Kurtz-Nelson,E.C., Earl,R., Bernier,R.A.
            and Eichler,E.E.
  TITLE     Shared and divergent mental health characteristics of ADNP-, CHD8-
            and DYRK1A-related neurodevelopmental conditions
  JOURNAL   J Neurodev Disord 16 (1), 15 (2024)
   PUBMED   38622540
  REMARK    GeneRIF: Shared and divergent mental health characteristics of
            ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1102)
  AUTHORS   Levine,J., Lobyntseva,A., Shazman,S., Hakim,F. and Gozes,I.
  TITLE     Longitudinal Genotype-Phenotype (Vineland Questionnaire)
            Characterization of 15 ADNP Syndrome Cases Highlights Mutated
            Protein Length and Structural Characteristics Correlation with
            Communicative Abilities Accentuated in Males
  JOURNAL   J Mol Neurosci 74 (1), 15 (2024)
   PUBMED   38282129
  REMARK    GeneRIF: Longitudinal Genotype-Phenotype (Vineland Questionnaire)
            Characterization of 15 ADNP Syndrome Cases Highlights Mutated
            Protein Length and Structural Characteristics Correlation with
            Communicative Abilities Accentuated in Males.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 1102)
  AUTHORS   Ge,C., Tian,Y., Hu,C., Mei,L., Li,D., Dong,P., Zhang,Y., Li,H.,
            Sun,D., Peng,W., Xu,X., Jiang,Y. and Xu,Q.
  TITLE     Clinical impact and in vitro characterization of ADNP variants in
            pediatric patients
  JOURNAL   Mol Autism 15 (1), 5 (2024)
   PUBMED   38254177
  REMARK    GeneRIF: Clinical impact and in vitro characterization of ADNP
            variants in pediatric patients.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1102)
  AUTHORS   Zhao,X., Su,Z., Xu,Z., Su,H. and Zheng,R.
  TITLE     [Helsmoortel-Van der Aa syndrome due to hotspot mutation of ADNP
            gene and a literature review]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (11), 1382-1386 (2023)
   PUBMED   37906146
  REMARK    GeneRIF: [Helsmoortel-Van der Aa syndrome due to hotspot mutation
            of ADNP gene and a literature review].
            Review article
REFERENCE   5  (residues 1 to 1102)
  AUTHORS   Braitch,M., Kawabe,K., Nyirenda,M., Gilles,L.J., Robins,R.A.,
            Gran,B., Murphy,S., Showe,L. and Constantinescu,C.S.
  TITLE     Expression of activity-dependent neuroprotective protein in the
            immune system: possible functions and relevance to multiple
            sclerosis
  JOURNAL   Neuroimmunomodulation 17 (2), 120-125 (2010)
   PUBMED   19923857
  REMARK    GeneRIF: ADNP is expressed in many immune system cells. ADNP mRNA
            is reduced in PBMCs in MS. The peptide NAP, which plays an
            important role in neuroprotection, has potential immunomodulatory
            properties.
REFERENCE   6  (residues 1 to 1102)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (residues 1 to 1102)
  AUTHORS   Mandel,S. and Gozes,I.
  TITLE     Activity-dependent neuroprotective protein constitutes a novel
            element in the SWI/SNF chromatin remodeling complex
  JOURNAL   J Biol Chem 282 (47), 34448-34456 (2007)
   PUBMED   17878164
  REMARK    GeneRIF: Activity-dependent neuroprotective protein constitutes a
            novel element in the SWI/SNF chromatin remodeling complex.
REFERENCE   8  (residues 1 to 1102)
  AUTHORS   Kankova,K., Stejskalova,A., Pacal,L., Tschoplova,S., Hertlova,M.,
            Krusova,D., Izakovicova-Holla,L., Beranek,M., Vasku,A., Barral,S.
            and Ott,J.
  TITLE     Genetic risk factors for diabetic nephropathy on chromosomes 6p and
            7q identified by the set-association approach
  JOURNAL   Diabetologia 50 (5), 990-999 (2007)
   PUBMED   17345061
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   9  (residues 1 to 1102)
  AUTHORS   Zamostiano,R., Pinhasov,A., Gelber,E., Steingart,R.A., Seroussi,E.,
            Giladi,E., Bassan,M., Wollman,Y., Eyre,H.J., Mulley,J.C.,
            Brenneman,D.E. and Gozes,I.
  TITLE     Cloning and characterization of the human activity-dependent
            neuroprotective protein
  JOURNAL   J Biol Chem 276 (1), 708-714 (2001)
   PUBMED   11013255
REFERENCE   10 (residues 1 to 1102)
  AUTHORS   Van Dijck,A., Vandeweyer,G. and Kooy,F.
  TITLE     ADNP-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27054228
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL034553.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 12, 2013 this sequence version replaced XP_005260411.1.
            
            Summary: Vasoactive intestinal peptide is a neuroprotective factor
            that has a stimulatory effect on the growth of some tumor cells and
            an inhibitory effect on others. This gene encodes a protein that is
            upregulated by vasoactive intestinal peptide and may be involved in
            its stimulatory effect on certain tumor cells. The encoded protein
            contains one homeobox and nine zinc finger domains, suggesting that
            it functions as a transcription factor. This gene is also
            upregulated in normal proliferative tissues. Finally, the encoded
            protein may increase the viability of certain cell types through
            modulation of p53 activity. Alternatively spliced transcript
            variants encoding the same protein have been described. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) represents the longest
            transcript. All five variants encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038194.3118279.1,
                                           SRR14038193.3610261.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153932 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000621696.5/ ENSP00000483881.1
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1102
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.13"
     Protein         1..1102
                     /product="activity-dependent neuroprotector homeobox
                     protein isoform 1"
                     /note="ADNP homeobox 1; activity-dependent neuroprotective
                     protein; activity-dependent neuroprotector"
                     /calculated_mol_wt=123432
     Region          1..754
                     /region_name="ADNP_N"
                     /note="Activity-dependent neuroprotector homeobox protein
                     N-terminal; pfam19627"
                     /db_xref="CDD:466132"
     Site            98
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            348
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          354..443
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          354..361
                     /region_name="Neuroprotective peptide (NAP).
                     /evidence=ECO:0000269|PubMed:19091000"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            409
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17525332; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          491..510
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            order(498..500,501..502,506,509,519,522..526,528..529)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275371"
     Region          514..531
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275371"
     Site            608
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          691..712
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            709
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            736
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            738
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          <768..811
                     /region_name="HOX"
                     /note="Homeodomain; smart00389"
                     /db_xref="CDD:197696"
     Site            805
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          851..1030
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            876
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            878
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            886
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9JKL8; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            889
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            921
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            953
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            955
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1035
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1042
                     /site_type="acetylation"
                     /note="N6-acetyllysine, alternate.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Region          1043..1102
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H2P0.1)"
     Site            1071
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9Z103; propagated from
                     UniProtKB/Swiss-Prot (Q9H2P0.1)"
     CDS             1..1102
                     /gene="ADNP"
                     /gene_synonym="ADNP1; HVDAS; MRD28"
                     /coded_by="NM_001282531.3:877..4185"
                     /note="isoform 1 is encoded by transcript variant 3"
                     /db_xref="CCDS:CCDS13433.1"
                     /db_xref="GeneID:23394"
                     /db_xref="HGNC:HGNC:15766"
                     /db_xref="MIM:611386"
ORIGIN      
        1 mfqlpvnnlg slrkarktvk kilsdigley ckehiedfkq fepndfylkn ttwedvglwd
       61 psltknqdyr tkpfccsacp fsskffsayk shfrnvhsed fenrillncp yctfnadkkt
      121 lethikifha pnasapsssl stfkdknknd glkpkqadsv eqavyyckkc tyrdplyeiv
      181 rkhiyrehfq hvaapyiaka gekslngavp lgsnareess ihckrclfmp ksyealvqhv
      241 iedherigyq vtamightnv vvprskplml iapkpqdkks mglpprigsl asgnvrslps
      301 qqmvnrlsip kpnlnstgvn mmssvhlqqn nygvksvgqg ysvgqsmrlg lggnapvsip
      361 qqsqsvkqll psgngrsygl gseqrsqapa ryslqsanas slssgqlksp slsqsqasrv
      421 lgqssskpaa aatgpppgnt sstqkwkict icnelfpenv ysvhfekehk aekvpavany
      481 imkihnftsk clycnrylpt dtllnhmlih glscpycrst fndvekmaah mrmvhideem
      541 gpktdstlsf dltlqqgsht nihllvttyn lrdapaesva yhaqnnppvp pkpqpkvqek
      601 adipvksspq aavpykkdvg ktlcplcfsi lkgpisdala hhlrerhqvi qtvhpvekkl
      661 tykcihclgv ytsnmtasti tlhlvhcrgv gktqngqdkt napsrlnqsp slapvkrtye
      721 qmefpllkkr kldddsdsps ffeekpeepv vlaldpkghe ddsyearksf ltkyfnkqpy
      781 ptrreiekla aslwlwksdi ashfsnkrkk cvrdcekykp gvllgfnmke lnkvkhemdf
      841 daewlfenhd ekdsrvnask tadkklnlgk eddsssdsfe nleeesnesg spfdpvfeve
      901 pkisndnpee hvlkvipeda seseekldqk edgskyetih lteeptklmh nasdsevdqd
      961 dvvewkdgas psesgpgsqq vsdfedntce mkpgtwsdes sqsedarssk paakkkatmq
     1021 gdreqlkwkn ssygkvegfw skdqsqwkna senderlsnp qiewqnstid sedgeqfdnm
     1081 tdgvaepmhg slagvklssq qa
//
