LOCUS       NM_022460               2383 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.
ACCESSION   NM_022460
VERSION     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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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  (bases 1 to 2383)
  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 Nov 22, 2018 this sequence version replaced NM_022460.3.
            
            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##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BX354596.2         38-38
            2-631               AK024311.1         1-630
            632-658             BC027947.1         620-646
            659-812             BC050636.1         645-798
            813-819             AC012065.8         142419-142425       c
            820-955             AC012065.8         141583-141718       c
            956-2349            AC012065.8         135539-136932       c
            2350-2377           BC050636.1         2336-2363
            2378-2383           N62141.1           15-20               c
FEATURES             Location/Qualifiers
     source          1..2383
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..2383
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /note="HCLS1 binding protein 3"
                     /db_xref="GeneID:64342"
                     /db_xref="HGNC:HGNC:24979"
                     /db_xref="MIM:609359"
     exon            1..67
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1214
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /note="HS1-binding protein 3; HSP1BP-3"
                     /codon_start=1
                     /product="HCLS1-binding protein 3"
                     /protein_id="NP_071905.3"
                     /db_xref="CCDS:CCDS1700.1"
                     /db_xref="GeneID:64342"
                     /db_xref="HGNC:HGNC:24979"
                     /db_xref="MIM:609359"
                     /translation="MQSPAVLVTSRRLQNAHTGLDLTVPQHQEVRGKMMSGHVEYQIL
                     VVTRLAAFKSAKHRPEDVVQFLVSKKYSEIEEFYQKLSSRYAAASLPPLPRKVLFVGE
                     SDIRERRAVFNEILRCVSKDAELAGSPELLEFLGTRSPGAAGLTSRDSSVLDGTDSQT
                     GNDEEAFDFFEEQDQVAEEGPPVQSLKGEDAEESLEEEEALDPLGIMRSKKPKKHPKV
                     AVKAKPSPRLTIFDEEVDPDEGLFGPGRKLSPQDPSEDVSSVDPLKLFDDPDLGGAIP
                     LGDSLLLPAACESGGPTPSLSHRDASKELFRVEEDLDQILNLGAEPKPKPQLKPKPPV
                     AAKPVIPRKPAVPPKAGPAEAVAGQQKPQEQIQAMDEMDILQYIQDHDTPAQAAPSLF
                     "
     exon            68..233
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            234..441
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            442..658
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            659..819
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            820..955
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     exon            956..2383
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2360..2365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /note="hexamer: AATAAA"
     polyA_site      2383
                     /gene="HS1BP3"
                     /gene_synonym="ETM2; HS1-BP3"
                     /note="major polyA site"
ORIGIN      
        1 gactgcgcgc cccgcccgga gtccccgccg ccgtcatgca gtccccggcg gtgctcgtca
       61 cctccaggcg acttcagaat gcccacactg gcctcgacct gactgtgccc cagcaccagg
      121 aggtacgggg caagatgatg tctggacacg tggagtacca gatcctggtg gtgacccgtc
      181 tggctgcgtt caagtcggcc aagcacaggc ccgaggatgt cgtccagttc ttggtctcca
      241 aaaagtacag cgagattgag gagttttacc agaaactgag cagtcgttat gcagcagcca
      301 gcctcccccc actacccagg aaggtcctgt ttgttgggga gtctgacatc cgggagagga
      361 gagccgtgtt caatgagatc ctgcgctgtg tctccaagga tgccgagttg gcaggcagcc
      421 cagagctgct agagttctta ggtaccagat ccccaggggc tgcagggctc accagcagag
      481 attcctctgt cctggatggc acagacagtc agacagggaa tgatgaagag gctttcgact
      541 tttttgagga gcaagaccaa gtggcagaag agggtccgcc cgtccagagc ctgaagggcg
      601 aggatgctga ggaatccttg gaggaggagg aggcgctgga ccctctgggc attatgcgct
      661 ccaagaagcc caagaaacat cccaaagtgg ccgtgaaagc caagccctcg ccccggctca
      721 ccatctttga cgaggaggtg gaccctgatg aggggctctt tggcccgggc aggaagctgt
      781 ctccacagga cccctcggag gacgtgtcat ccgtggaccc cctgaagcta tttgatgatc
      841 ctgacctcgg cggggccatc cccctgggtg actccctcct gctgccagcc gcctgtgaga
      901 gtggagggcc cacacccagc ctcagccaca gggacgcctc caaggaactg ttcagagttg
      961 aagaggactt ggaccagatt ctgaacctgg gagctgagcc caaacccaag ccccagctta
     1021 agcccaagcc accagtggca gctaagccgg tgatacccag aaaaccagct gttcccccca
     1081 aagcgggccc ggctgaagct gtggctgggc agcagaagcc gcaggagcag atccaagcca
     1141 tggacgagat ggacatcttg cagtacatcc aggaccacga tacaccagcc caggccgccc
     1201 ccagcctctt ctgacccttc catgctggcc cctggcccag caggcctgtc tgtggggaca
     1261 tcggtgtgaa gggaagggac tgggccctgc agggtcagaa cctccccacc cccaggggag
     1321 gccaggcaga agcctgggtc acagcaccca gaactgcatg gttccatttt ctccggggct
     1381 gtggggccaa agtagaagcc tgcgggctgc gggagcggct ctcaccctag gagccagagc
     1441 ccaatgtgtc ttattccccg tggacatgaa ggggagggag ggtgtgggga tgccttgcca
     1501 accagaagcc cagccccaag gatgaagcaa gacatgtggg gccgtagcga ggtgtcacat
     1561 ggggcaggga agcttcatgc ccacgggttc tgccagcccc agcacagacc caaactgggg
     1621 ctgggcctct atccctcctc tgcctctgtt cgcatagtaa gaaggagtga ccggtatcct
     1681 ccccttcccc taccctaagc tgtagcctgg gtgactgact ggcctgggcc tggggtgggg
     1741 acgtccccaa gccaaattac tccagggcct ctgctcctcg tggctgccag gggcctgcag
     1801 ggtctgggtg ggtctcccag gagaggaata ctgagtggga gatcggctgt ctggagtgtt
     1861 ctgatgcaag tctctctctc ctgagcctcc tcttgatgca agctctaaag ggagaagtca
     1921 ggccctgcct ctccagggta tagacggccc tgctaggccc cagttcttcc tccttccccc
     1981 tttcccagga aaggccagcc cagtccatgg ccttcttggg cctctgggca cagagccaat
     2041 gttcgtcatt gcagctctca gcaaactggg tcatagcttt ccccacagct cagcctgggg
     2101 cctgggcagg gctcccagcc tgcaccgcct cccactgcca gtggggcatg attctctcag
     2161 gcttctgccc cgaggccttc gtcgtcctca gggtctggac ttggtcagtg gcctttcacc
     2221 agtggagctg ccttcccagg gagaaggagc cgtgcgccag ggcagggccc gtgccttaga
     2281 cttctcccga cccccagagc gctggtacac aggtctaggc accacacagt gctttggaaa
     2341 ttctcagtga atgatgttta ataaagcaaa aaatgtcaag gtg
//
