LOCUS       NM_022136               1860 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens SAM domain, SH3 domain and nuclear localization
            signals 1 (SAMSN1), transcript variant 1, mRNA.
ACCESSION   NM_022136
VERSION     NM_022136.5
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  (bases 1 to 1860)
  AUTHORS   Kwan,J.J., Slavkovic,S., Piazza,M., Wang,D., Dieckmann,T.,
            Johnson,P.E., Wen,X.Y. and Donaldson,L.W.
  TITLE     HACS1 signaling adaptor protein recognizes a motif in the paired
            immunoglobulin receptor B cytoplasmic domain
  JOURNAL   Commun Biol 3 (1), 672 (2020)
   PUBMED   33188360
  REMARK    GeneRIF: HACS1 signaling adaptor protein recognizes a motif in the
            paired immunoglobulin receptor B cytoplasmic domain.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1860)
  AUTHORS   Sueoka,S., Kanda,M., Sugimoto,H., Shimizu,D., Nomoto,S., Oya,H.,
            Takami,H., Ezaka,K., Hashimoto,R., Tanaka,Y., Okamura,Y.,
            Yamada,S., Fujii,T., Nakayama,G., Koike,M., Fujiwara,M. and
            Kodera,Y.
  TITLE     Suppression of SAMSN1 Expression is Associated with the Malignant
            Phenotype of Hepatocellular Carcinoma
  JOURNAL   Ann Surg Oncol 22 Suppl 3, S1453-S1460 (2015)
   PUBMED   25805236
  REMARK    GeneRIF: Suppression of SAMSN1 Expression is Associated with the
            Malignant Phenotype of Hepatocellular Carcinoma.
REFERENCE   3  (bases 1 to 1860)
  AUTHORS   Lemaitre,R.N., King,I.B., Kabagambe,E.K., Wu,J.H., McKnight,B.,
            Manichaikul,A., Guan,W., Sun,Q., Chasman,D.I., Foy,M., Wang,L.,
            Zhu,J., Siscovick,D.S., Tsai,M.Y., Arnett,D.K., Psaty,B.M.,
            Djousse,L., Chen,Y.D., Tang,W., Weng,L.C., Wu,H., Jensen,M.K.,
            Chu,A.Y., Jacobs,D.R. Jr., Rich,S.S., Mozaffarian,D., Steffen,L.,
            Rimm,E.B., Hu,F.B., Ridker,P.M., Fornage,M. and Friedlander,Y.
  TITLE     Genetic loci associated with circulating levels of very long-chain
            saturated fatty acids
  JOURNAL   J Lipid Res 56 (1), 176-184 (2015)
   PUBMED   25378659
REFERENCE   4  (bases 1 to 1860)
  AUTHORS   Noll,J.E., Hewett,D.R., Williams,S.A., Vandyke,K., Kok,C., To,L.B.
            and Zannettino,A.C.
  TITLE     SAMSN1 is a tumor suppressor gene in multiple myeloma
  JOURNAL   Neoplasia 16 (7), 572-585 (2014)
   PUBMED   25117979
  REMARK    GeneRIF: This is the first study to identify deletion of a key gene
            in the C57BL/KaLwRij mice that also displays reduced gene
            expression in patients with MM and is therefore likely to play an
            integral role in MM disease development.
REFERENCE   5  (bases 1 to 1860)
  AUTHORS   Yan,Y., Zhang,L., Xu,T., Zhou,J., Qin,R., Chen,C., Zou,Y., Fu,D.,
            Hu,G., Chen,J. and Lu,Y.
  TITLE     SAMSN1 is highly expressed and associated with a poor survival in
            glioblastoma multiforme
  JOURNAL   PLoS One 8 (11), e81905 (2013)
   PUBMED   24278465
  REMARK    GeneRIF: High expression of SAMSN1 is a significant risk factor for
            the progression free and overall survival of glioblastoma
            multiforme
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1860)
  AUTHORS   Zhu,Y.X., Benn,S., Li,Z.H., Wei,E., Masih-Khan,E., Trieu,Y.,
            Bali,M., McGlade,C.J., Claudio,J.O. and Stewart,A.K.
  TITLE     The SH3-SAM adaptor HACS1 is up-regulated in B cell activation
            signaling cascades
  JOURNAL   J Exp Med 200 (6), 737-747 (2004)
   PUBMED   15381729
  REMARK    GeneRIF: HACS1 is up-regulated by B cell activation signals and is
            a participant in B cell activation and differentiation.
REFERENCE   7  (bases 1 to 1860)
  AUTHORS   Brun,M.E., Ruault,M., Ventura,M., Roizes,G. and De Sario,A.
  TITLE     Juxtacentromeric region of human chromosome 21: a boundary between
            centromeric heterochromatin and euchromatic chromosome arms
  JOURNAL   Gene 312, 41-50 (2003)
   PUBMED   12909339
REFERENCE   8  (bases 1 to 1860)
  AUTHORS   Uchida,T., Nakao,A., Nakano,N., Kuramasu,A., Saito,H., Okumura,K.,
            Ra,C. and Ogawa,H.
  TITLE     Identification of Nash1, a novel protein containing a nuclear
            localization signal, a sterile alpha motif, and an SH3 domain
            preferentially expressed in mast cells
  JOURNAL   Biochem Biophys Res Commun 288 (1), 137-141 (2001)
   PUBMED   11594764
  REMARK    Erratum:[Biochem Biophys Res Commun 2001 Nov 16;288(5):1265]
REFERENCE   9  (bases 1 to 1860)
  AUTHORS   Claudio,J.O., Zhu,Y.X., Benn,S.J., Shukla,A.H., McGlade,C.J.,
            Falcioni,N. and Stewart,A.K.
  TITLE     HACS1 encodes a novel SH3-SAM adaptor protein differentially
            expressed in normal and malignant hematopoietic cells
  JOURNAL   Oncogene 20 (38), 5373-5377 (2001)
   PUBMED   11536050
REFERENCE   10 (bases 1 to 1860)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC029112.1 and AA747998.1.
            
            On Jun 2, 2019 this sequence version replaced NM_022136.4.
            
            Summary: SAMSN1 is a member of a novel gene family of putative
            adaptors and scaffold proteins containing SH3 and SAM (sterile
            alpha motif) domains (Claudio et al., 2001 [PubMed
            11536050]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript and encodes isoform 1.
            
            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 :: SRR5189661.67310.1, AF222927.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000400566.6/ ENSP00000383411.2
            RefSeq Select criteria :: based on manual assertion, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1851              BC029112.1         20-1870
            1852-1860           AA747998.1         18-26               c
FEATURES             Location/Qualifiers
     source          1..1860
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q11.2"
     gene            1..1860
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /note="SAM domain, SH3 domain and nuclear localization
                     signals 1"
                     /db_xref="GeneID:64092"
                     /db_xref="HGNC:HGNC:10528"
                     /db_xref="MIM:607978"
     exon            1..111
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1176
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /note="isoform 1 is encoded by transcript variant 1; SAM
                     domain, SH3 domain and nuclear localisation signals, 1;
                     SAM and SH3 domain containing 2; hematopoietic
                     adapter-containing SH3 and sterile alpha-motif (SAM)
                     domains 1; nuclear localization signals, SAM and SH3
                     domain containing 1; hematopoietic adaptor containing SH3
                     and SAM domains 1; SH3-SAM adaptor protein; hematopoietic
                     adapter-containing SH3 and sterile I+/--motif (SAM)
                     domains 1; SAM domain-containing protein SAMSN-1; SAM
                     domain, SH3 domain and nuclear localization signals
                     protein 1; Src homology domain 3 (SH3)-containing adapter
                     protein SH3 lymphocyte protein 2"
                     /codon_start=1
                     /product="SAM domain-containing protein SAMSN-1 isoform 1"
                     /protein_id="NP_071419.3"
                     /db_xref="CCDS:CCDS42906.1"
                     /db_xref="GeneID:64092"
                     /db_xref="HGNC:HGNC:10528"
                     /db_xref="MIM:607978"
                     /translation="MLKRKPSNVSEKEKHQKPKRSSSFGNFDRFRNNSLSKPDDSTEA
                     HEGDPTNGSGEQSKTSNNGGGLGKKMRAISWTMKKKVGKKYIKALSEEKDEEDGENAH
                     PYRNSDPVIGTHTEKVSLKASDSMDSLYSGQSSSSGITSCSDGTSNRDSFRLDDDGPY
                     SGPFCGRARVHTDFTPSPYDTDSLKIKKGDIIDIICKTPMGMWTGMLNNKVGNFKFIY
                     VDVISEEEAAPKKIKANRRSNSKKSKTLQEFLERIHLQEYTSTLLLNGYETLEDLKDI
                     KESHLIELNIENPDDRRRLLSAAENFLEEEIIQEQENEPEPLSLSSDISLNKSQLDDC
                     PRDSGCYISSGNSDNGKEDLESENLSDMVHKIIITEPSD"
     exon            112..183
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            184..333
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            334..463
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            464..615
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            616..822
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            823..973
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1860
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1834..1839
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /note="hexamer: AATAAA"
     polyA_site      1860
                     /gene="SAMSN1"
                     /gene_synonym="HACS1; NASH1; SASH2; SH3D6B; SLy2"
                     /note="major polyA site"
ORIGIN      
        1 agttgtttct gtaacagcag aaagtgcact cactaggagt agtcagaatt caaaatgctc
       61 aagagaaagc catccaatgt ttcagagaag gagaaacatc aaaaaccaaa gcgaagcagc
      121 agttttggga atttcgatcg ttttcggaat aattctttat caaaaccaga tgattcaact
      181 gaggcacatg aaggagatcc cacaaatgga agtggagaac aaagtaaaac ttcaaataat
      241 ggaggcggtt tgggtaaaaa aatgagagct atttcatgga caatgaagaa aaaagtgggt
      301 aaaaagtaca tcaaagccct ttctgaggaa aaggatgagg aagatggaga gaatgcccac
      361 ccatatagaa acagtgaccc tgtgattggg acccacacag agaaggtgtc cctcaaagcc
      421 agtgactcca tggatagtct ctacagtgga cagagctcat caagtggcat aacaagctgt
      481 tcagatggta caagtaaccg ggacagcttt cgactggatg acgatggccc ctattcagga
      541 ccattctgtg gccgtgccag agtgcatacg gatttcacgc caagtcccta tgacactgac
      601 tccctcaaaa tcaagaaagg agacatcata gacattattt gcaaaacacc aatggggatg
      661 tggacaggaa tgttgaacaa taaagtggga aacttcaaat tcatttatgt ggatgtcatc
      721 tcagaagagg aagcagcccc caagaaaata aaggcaaacc gaaggagtaa cagcaaaaaa
      781 tccaagactc tgcaggagtt cctagagagg attcatctgc aggaatacac ctcaacactt
      841 ttgctcaatg gttatgagac tctagaagat ttaaaagata taaaagagag tcacctcatt
      901 gaattaaata ttgaaaaccc agatgacaga agaaggttac tatcagctgc tgaaaacttc
      961 cttgaagaag aaattattca agagcaagaa aatgaacctg agcccctatc cttgagctca
     1021 gacatctcct taaataagtc acagttagat gactgcccaa gggactctgg ttgctatatc
     1081 tcatcaggaa attcagataa tggcaaagag gatctggagt ctgaaaatct gtctgacatg
     1141 gtacataaga ttattatcac agagccaagt gactgaacac gcattcccaa ctatatatct
     1201 acagatgcat tccattttaa ctcttcttga gctaaaacgt caaataggag aggaagataa
     1261 gataaatatt tgtaaataaa acctaaagtt taaatgtttt aatctgaata attgtacata
     1321 aaattttgta tctctaacat tccaaattac tgtcaataaa atatatattt attattttaa
     1381 atgctatgtg ttaatatttc acttgcttgt attagaaagg caaaatgtaa gactttggta
     1441 tgtgtgacat atgctttatt tggctttatt ttacaagtac agtatctgca aaaaacaaag
     1501 taaccttttt tcatacctgc cagttttgaa tttatatatg ttattgaaca aatagtaata
     1561 gaggattcgc tgttgaaaca agttgtccaa gcaatgttat attcattttt atacttattg
     1621 ggaaagtgtg agttaatatt ggacacattt tatcctgatc cacagtggag ttttagtaat
     1681 tatattttgt tgatttcttc attttgtttt ctggtataaa agtagagata atgtgtagtc
     1741 acttctgatt tagtgaaacc aattgtaata attgtggaaa tgttttgtct ttaagtgtaa
     1801 atattttaaa atttgacata ccctaatgtt aataataaaa agaactattt gcatattgca
//
