LOCUS       NP_071905                392 aa            linear   PRI 04-APR-2024
DEFINITION  HCLS1-binding protein 3 [Homo sapiens].
ACCESSION   NP_071905
VERSION     NP_071905.3
DBSOURCE    REFSEQ: accession NM_022460.4
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 392)
  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 392)
  AUTHORS   Holland,P., Knaevelsrud,H., Soreng,K., Mathai,B.J., Lystad,A.H.,
            Pankiv,S., Bjorndal,G.T., Schultz,S.W., Lobert,V.H., Chan,R.B.,
            Zhou,B., Liestol,K., Carlsson,S.R., Melia,T.J., Di Paolo,G. and
            Simonsen,A.
  TITLE     HS1BP3 negatively regulates autophagy by modulation of phosphatidic
            acid levels
  JOURNAL   Nat Commun 7, 13889 (2016)
   PUBMED   28004827
  REMARK    GeneRIF: HS1BP3 is localized to ATG16L1- and ATG9-positive
            autophagosome precursors and we show that HS1BP3 binds phosphatidic
            acid (PA) through its PX domain. Furthermore, we find the total PA
            content of cells to be significantly upregulated in the absence of
            HS1BP3.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 392)
  AUTHORS   Shi,T., Xie,J., Xiong,Y., Deng,W., Guo,J., Wang,F. and Ma,D.
  TITLE     Human HS1BP3 induces cell apoptosis and activates AP-1
  JOURNAL   BMB Rep 44 (6), 381-386 (2011)
   PUBMED   21699750
  REMARK    GeneRIF: Results suggest that HS1BP3 regulates apoptosis via HS1
            and stimulates AP-1-mediated transcription.
REFERENCE   4  (residues 1 to 392)
  AUTHORS   Keeling,B.H., Vilarino-Guell,C., Ross,O.A., Wszolek,Z.K.,
            Uitti,R.J. and Farrer,M.J.
  TITLE     DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson
            disease
  JOURNAL   Neurosci Lett 461 (2), 74-75 (2009)
   PUBMED   19524641
  REMARK    GeneRIF: Results do not support a role for these DRD3 and HS1BP3
            variants in PD.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (residues 1 to 392)
  AUTHORS   Deng,H., Le,W.D., Guo,Y., Huang,M.S., Xie,W.J. and Jankovic,J.
  TITLE     Extended study of A265G variant of HS1BP3 in essential tremor and
            Parkinson disease
  JOURNAL   Neurology 65 (4), 651-652 (2005)
   PUBMED   16116142
  REMARK    GeneRIF: HS1PB3 protein is mutated in essential tremor combined
            with Parkinson disease.
REFERENCE   6  (residues 1 to 392)
  AUTHORS   Higgins,J.J., Lombardi,R.Q., Pucilowska,J., Jankovic,J., Tan,E.K.
            and Rooney,J.P.
  TITLE     A variant in the HS1-BP3 gene is associated with familial essential
            tremor
  JOURNAL   Neurology 64 (3), 417-421 (2005)
   PUBMED   15699368
  REMARK    GeneRIF: The 828C-->G mutation causes a substitution of a glycine
            for an alanine residue in the HS1-BP3 protein. It was found in 2
            unrelated patients with familial essential tremor.
REFERENCE   7  (residues 1 to 392)
  AUTHORS   Takemoto,Y., Furuta,M., Sato,M., Kubo,M. and Hashimoto,Y.
  TITLE     Isolation and characterization of a novel HS1 SH3 domain binding
            protein, HS1BP3
  JOURNAL   Int Immunol 11 (12), 1957-1964 (1999)
   PUBMED   10590261
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX354596.2, AK024311.1,
            BC027947.1, BC050636.1, AC012065.8 and N62141.1.
            
            On Jul 5, 2005 this sequence version replaced NP_071905.2.
            
            Summary: The protein encoded by this gene shares similarity with
            mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved
            in lymphocyte activation. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.318701.1,
                                           SRR1803616.109282.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304031.8/ ENSP00000305193.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..392
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     Protein         1..392
                     /product="HCLS1-binding protein 3"
                     /note="HS1-binding protein 3; HSP1BP-3"
                     /calculated_mol_wt=42649
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:22814378; propagated from
                     UniProtKB/Swiss-Prot (Q53T59.1)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q53T59.1)"
     Region          19..138
                     /region_name="PX_HS1BP3"
                     /note="The phosphoinositide binding Phox Homology domain
                     of HS1BP3; cd06868"
                     /db_xref="CDD:132778"
     Site            order(70..72,96..97,108)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132778"
     Region          138..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53T59.1)"
     Site            139
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569;
                     propagated from UniProtKB/Swiss-Prot (Q53T59.1)"
     Region          174..265
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53T59.1)"
     Site            194
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q53T59.1)"
     Site            249
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q53T59.1)"
     Region          319..364
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53T59.1)"
     Site            337
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q53T59.1)"
     CDS             1..392
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /coded_by="NM_022460.4:36..1214"
                     /db_xref="CCDS:CCDS1700.1"
                     /db_xref="GeneID:64342"
                     /db_xref="HGNC:HGNC:24979"
                     /db_xref="MIM:609359"
ORIGIN      
        1 mqspavlvts rrlqnahtgl dltvpqhqev rgkmmsghve yqilvvtrla afksakhrpe
       61 dvvqflvskk yseieefyqk lssryaaasl pplprkvlfv gesdirerra vfneilrcvs
      121 kdaelagspe lleflgtrsp gaagltsrds svldgtdsqt gndeeafdff eeqdqvaeeg
      181 ppvqslkged aeesleeeea ldplgimrsk kpkkhpkvav kakpsprlti fdeevdpdeg
      241 lfgpgrklsp qdpsedvssv dplklfddpd lggaiplgds lllpaacesg gptpslshrd
      301 askelfrvee dldqilnlga epkpkpqlkp kppvaakpvi prkpavppka gpaeavagqq
      361 kpqeqiqamd emdilqyiqd hdtpaqaaps lf
//
