LOCUS       NP_056093               1247 aa            linear   PRI 01-OCT-2024
DEFINITION  SAM and SH3 domain-containing protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_056093
VERSION     NP_056093.3
DBSOURCE    REFSEQ: accession NM_015278.5
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  (residues 1 to 1247)
  AUTHORS   Li,S., Su,Y., Tian,J., Wang,K., Wang,X., Ding,L. and Li,C.
  TITLE     The downregulation of SASH1 expression promotes breast cancer
            occurrence and invasion accompanied by the activation of
            PI3K-Akt-mTOR signaling pathway
  JOURNAL   Sci Rep 14 (1), 21914 (2024)
   PUBMED   39300116
  REMARK    GeneRIF: The downregulation of SASH1 expression promotes breast
            cancer occurrence and invasion accompanied by the activation of
            PI3K-Akt-mTOR signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1247)
  AUTHORS   Zhou,Z., Wang,P., Wang,Q., Dong,Z., Chen,X., Zhuo,R., Wu,R.,
            Liu,Y., Yang,L. and Liu,M.
  TITLE     SASH1 contributes to glial cell migration in the early development
            of the central nervous system
  JOURNAL   Dev Biol 504, 49-57 (2023)
   PUBMED   37741309
  REMARK    GeneRIF: SASH1 contributes to glial cell migration in the early
            development of the central nervous system.
REFERENCE   3  (residues 1 to 1247)
  AUTHORS   Kou,F., Wu,L., Zheng,Y., Yi,Y., Ji,Z., Huang,Z., Guo,S. and Yang,L.
  TITLE     HMGB1/SET/HAT1 complex-mediated SASH1 repression drives glycolysis
            and metastasis in lung adenocarcinoma
  JOURNAL   Oncogene 42 (46), 3407-3421 (2023)
   PUBMED   37794134
  REMARK    GeneRIF: HMGB1/SET/HAT1 complex-mediated SASH1 repression drives
            glycolysis and metastasis in lung adenocarcinoma.
REFERENCE   4  (residues 1 to 1247)
  AUTHORS   Ding,Y., Chen,Q., Shan,H., Liu,J., Lv,C., Wang,Y., Yuan,L.,
            Chen,Y., Wang,Z., Yin,Y., Xiao,K., Li,J. and Liu,W.
  TITLE     SASH1: A Novel Eph Receptor Partner and Insights into SAM-SAM
            Interactions
  JOURNAL   J Mol Biol 435 (19), 168243 (2023)
   PUBMED   37619706
  REMARK    GeneRIF: SASH1: A Novel Eph Receptor Partner and Insights into
            SAM-SAM Interactions.
REFERENCE   5  (residues 1 to 1247)
  AUTHORS   Park,E.G., Lee,D.H., Kim,W.R., Lee,Y.J., Bae,W.H., Kim,J.M.,
            Shin,H.J., Ha,H., Yi,J.M., Cho,S.G., Choi,Y.H., Leem,S.H.,
            Cha,H.J., Kim,S.W. and Kim,H.S.
  TITLE     Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the
            Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder
            Cancer
  JOURNAL   Genes (Basel) 14 (7), 1410 (2023)
   PUBMED   37510314
  REMARK    GeneRIF: Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits
            the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder
            Cancer.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1247)
  AUTHORS   Rimkus,C., Martini,M., Friederichs,J., Rosenberg,R., Doll,D.,
            Siewert,J.R., Holzmann,B. and Janssen,K.P.
  TITLE     Prognostic significance of downregulated expression of the
            candidate tumour suppressor gene SASH1 in colon cancer
  JOURNAL   Br J Cancer 95 (10), 1419-1423 (2006)
   PUBMED   17088907
  REMARK    GeneRIF: Downregulated expression of the candidate tumour
            suppressor gene SASH1 is associated with colon cancer
REFERENCE   7  (residues 1 to 1247)
  AUTHORS   Benzinger,A., Muster,N., Koch,H.B., Yates,J.R. 3rd and Hermeking,H.
  TITLE     Targeted proteomic analysis of 14-3-3 sigma, a p53 effector
            commonly silenced in cancer
  JOURNAL   Mol Cell Proteomics 4 (6), 785-795 (2005)
   PUBMED   15778465
REFERENCE   8  (residues 1 to 1247)
  AUTHORS   Cheng,J., Kapranov,P., Drenkow,J., Dike,S., Brubaker,S., Patel,S.,
            Long,J., Stern,D., Tammana,H., Helt,G., Sementchenko,V.,
            Piccolboni,A., Bekiranov,S., Bailey,D.K., Ganesh,M., Ghosh,S.,
            Bell,I., Gerhard,D.S. and Gingeras,T.R.
  TITLE     Transcriptional maps of 10 human chromosomes at 5-nucleotide
            resolution
  JOURNAL   Science 308 (5725), 1149-1154 (2005)
   PUBMED   15790807
REFERENCE   9  (residues 1 to 1247)
  AUTHORS   Xing,Q.H., Wang,M.T., Chen,X.D., Feng,G.Y., Ji,H.Y., Yang,J.D.,
            Gao,J.J., Qin,W., Qian,X.Q., Wu,S.N. and He,L.
  TITLE     A gene locus responsible for dyschromatosis symmetrica hereditaria
            (DSH) maps to chromosome 6q24.2-q25.2
  JOURNAL   Am J Hum Genet 73 (2), 377-382 (2003)
   PUBMED   12815562
REFERENCE   10 (residues 1 to 1247)
  AUTHORS   Zeller,C., Hinzmann,B., Seitz,S., Prokoph,H., Burkhard-Goettges,E.,
            Fischer,J., Jandrig,B., Schwarz,L.E., Rosenthal,A. and Scherneck,S.
  TITLE     SASH1: a candidate tumor suppressor gene on chromosome 6q24.3 is
            downregulated in breast cancer
  JOURNAL   Oncogene 22 (19), 2972-2983 (2003)
   PUBMED   12771949
  REMARK    GeneRIF: tumor suppressor gene possibly involved in tumorigenesis
            of breast and other solid cancers
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK025495.1, AJ507735.1 and
            AK024403.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 1, 2004 this sequence version replaced NP_056093.2.
            
            Summary: This gene encodes a scaffold protein involved in the TLR4
            signaling pathway that may stimulate cytokine production and
            endothelial cell migration in response to invading pathogens. The
            encoded protein has also been described as a potential tumor
            suppressor that may negatively regulate proliferation, apoptosis,
            and invasion of cancer cells, and reduced expression of this gene
            has been observed in multiple human cancers. Mutations in this gene
            may be associated with abnormal skin pigmentation in human
            patients. [provided by RefSeq, Oct 2016].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: BN000088.1, AJ507735.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367467.8/ ENSP00000356437.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1247
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.3-q25.1"
     Protein         1..1247
                     /product="SAM and SH3 domain-containing protein 1 isoform
                     1"
                     /note="SAM and SH3 domain-containing protein 1;
                     proline-glutamate repeat-containing protein"
                     /calculated_mol_wt=136523
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Site            90
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:17081983,
                     ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          126..145
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          221..257
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Site            248
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59808; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          316..344
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          401..555
                     /region_name="SLY"
                     /note="Lymphocyte signaling adaptor protein; pfam12485"
                     /db_xref="CDD:463602"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          449..573
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          557..613
                     /region_name="SH3_SASH1"
                     /note="Src homology 3 domain of SAM And SH3 Domain
                     Containing Protein 1; cd11967"
                     /db_xref="CDD:212900"
     Site            order(563,565,568,574,592..593,606,608..609)
                     /site_type="other"
                     /note="peptide ligand binding site [polypeptide binding]"
                     /db_xref="CDD:212900"
     Site            614
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          616..639
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          633..698
                     /region_name="SAM_SASH1_repeat1"
                     /note="SAM domain of SASH1 proteins, repeat 1; cd09559"
                     /db_xref="CDD:188958"
     Region          713..810
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Site            821
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59808; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Site            839
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:P59808; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          844..>1086
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:460830"
     Region          846..884
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          852..860
                     /region_name="Required for interaction with TRAF6.
                     /evidence=ECO:0000269|PubMed:23776175"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Site            858
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (O94885.3)"
     Region          903..946
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          971..1065
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O94885.3)"
     Region          1173..1242
                     /region_name="SAM_SASH1_repeat2"
                     /note="SAM domain of SASH1 proteins, repeat 2; cd09492"
                     /db_xref="CDD:188891"
     CDS             1..1247
                     /gene="SASH1"
                     /gene_synonym="CAPOK; dJ323M4.1; DUH; DUH1; SH3D6A"
                     /coded_by="NM_015278.5:231..3974"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5212.1"
                     /db_xref="GeneID:23328"
                     /db_xref="HGNC:HGNC:19182"
                     /db_xref="MIM:607955"
ORIGIN      
        1 medagaagpg pepepepepe pepapepepe pkpgagtsea fsrlwtdvmg ildgslgnid
       61 dlaqqyadyy ntcfsdvcer meelrkrrvs qdlevekpda sptslqlrsq ieeslgfcsa
      121 vstpeverkn plhksnseds svgkgdwkkk nkyfwqnfrk nqkgimrqts kgedvgyvas
      181 eitmsdeeri qlmmmvkekm itieealarl keyeaqhrqs aaldpadwpd gsyptfdgss
      241 ncnsreqsdd eteesvkfkr lhklvnstrr vrkklirvee mkkpstegge ehvfenspvl
      301 dersalysgv hkkplffdgs pekppeddsd slttspssss ldtwgagrkl vktfskgesr
      361 glikppkkmg tffsypeeek aqkvsrslte gemkkglgsl shgrtcsfgg fdltnrslhv
      421 gsnnsdpmgk egdfvykevi ksptasrisl gkkvksvket mrkrmskkys ssvseqdsgl
      481 dgmpgsppps qpdpehldkp klkaggsves lrsslsgqss msgqtvsttd sstsnresvk
      541 sedgddeepp yrgpfcgrar vhtdftpspy dtdslklkkg diidiiskpp mgtwmgllnn
      601 kvgtfkfiyv dvlsedeekp krptrrrrkg rppqpksved lldrinlkeh mptflfngye
      661 dldtfkllee edldelnird pehravllta vellqeydsn sdqsgsqekl lvdsqglsgc
      721 sprdsgcyes senlengktr kasllsakss tepslksfsr nqlgnyptlp lmksgdalkq
      781 gqeegrlggg lapdtskscd ppgvtglnkn rrslpvsicr scetlegpqt vdtwprshsl
      841 ddlqvepgae qdvptevtep ppqivpevpq kttasstkaq pleqdsavdn allltqskrf
      901 sepqklttkk legsiaasgr glsppqclpr nydaqppgak hglartpleg hrkghefegt
      961 hhplgtkegv daeqrmqpki psqpppvpak ksrerlangl hpvpmgpsga lpspdapclp
     1021 vkrgspaspt spsdcppala prplsgqapg sppstrpppw lselpentsl qehgvklgpa
     1081 ltrkvscarg vdletltenk lhaegidlte epysdkhgrc gipealvqry aedldqperd
     1141 vaanmdqirv kqlrkqhrma ipsgglteic rkpvspgcis svsdwlisig lpmyagtlst
     1201 agfstlsqvp slshtclqea giteerhirk llsaarlfkl ppgpeam
//
