LOCUS       NM_001005373            3120 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens leucine rich repeat and sterile alpha motif containing
            1 (LRSAM1), transcript variant 2, mRNA.
ACCESSION   NM_001005373
VERSION     NM_001005373.4
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 3120)
  AUTHORS   Milella,G., Amati,A., Lastella,P., Zanfardino,P., Petruzzella,V.
            and Zoccolella,S.
  TITLE     A novel mutation in the LRSAM1 gene in a family with early onset
            autosomal dominant Charcot-Marie-Tooth type 2P
  JOURNAL   Clin Neurol Neurosurg 237, 108158 (2024)
   PUBMED   38330802
  REMARK    GeneRIF: A novel mutation in the LRSAM1 gene in a family with early
            onset autosomal dominant Charcot-Marie-Tooth type 2P.
REFERENCE   2  (bases 1 to 3120)
  AUTHORS   Sun,B., He,Z.Q., Wang,H.F., Li,Y.R., Yang,F., Cui,F., Chen,Z.H. and
            Huang,X.S.
  TITLE     [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese
            patients with Charcot-Marie-Tooth disease]
  JOURNAL   Zhonghua Nei Ke Za Zhi 61 (8), 901-907 (2022)
   PUBMED   35922214
  REMARK    GeneRIF: [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of
            Chinese patients with Charcot-Marie-Tooth disease].
REFERENCE   3  (bases 1 to 3120)
  AUTHORS   Moiseev,D., Wazir,Z., Liu,D., Li,J. and Hu,B.
  TITLE     C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P
            mouse model
  JOURNAL   Sci Rep 12 (1), 12160 (2022)
   PUBMED   35842440
  REMARK    GeneRIF: C698R mutation in Lrsam1 gene impairs nerve regeneration
            in a CMT2P mouse model.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3120)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3120)
  AUTHORS   Ng,A.C., Eisenberg,J.M., Heath,R.J., Huett,A., Robinson,C.M.,
            Nau,G.J. and Xavier,R.J.
  TITLE     Human leucine-rich repeat proteins: a genome-wide bioinformatic
            categorization and functional analysis in innate immunity
  JOURNAL   Proc Natl Acad Sci U S A 108 Suppl 1 (Suppl 1), 4631-4638 (2011)
   PUBMED   20616063
  REMARK    GeneRIF: LRSAM1 as a component of the antibacterial autophagic
            response.
REFERENCE   6  (bases 1 to 3120)
  AUTHORS   McDonald,B. and Martin-Serrano,J.
  TITLE     Regulation of Tsg101 expression by the steadiness box: a role of
            Tsg101-associated ligase
  JOURNAL   Mol Biol Cell 19 (2), 754-763 (2008)
   PUBMED   18077552
  REMARK    GeneRIF: Tal polyubiquitinates lysine residues in the C-terminus of
            uncomplexed Tsg101, resulting in proteasomal degradation.
REFERENCE   7  (bases 1 to 3120)
  AUTHORS   Amit,I., Yakir,L., Katz,M., Zwang,Y., Marmor,M.D., Citri,A.,
            Shtiegman,K., Alroy,I., Tuvia,S., Reiss,Y., Roubini,E., Cohen,M.,
            Wides,R., Bacharach,E., Schubert,U. and Yarden,Y.
  TITLE     Tal, a Tsg101-specific E3 ubiquitin ligase, regulates receptor
            endocytosis and retrovirus budding
  JOURNAL   Genes Dev 18 (14), 1737-1752 (2004)
   PUBMED   15256501
  REMARK    GeneRIF: Tal regulates a Tsg101-associated complex responsible for
            the sorting of cargo into cytoplasm-containing vesicles that bud at
            the multivesicular body and at the plasma membrane
REFERENCE   8  (bases 1 to 3120)
  AUTHORS   Li,B., Su,Y., Ryder,J., Yan,L., Na,S. and Ni,B.
  TITLE     RIFLE: a novel ring zinc finger-leucine-rich repeat containing
            protein, regulates select cell adhesion molecules in PC12 cells
  JOURNAL   J Cell Biochem 90 (6), 1224-1241 (2003)
   PUBMED   14635195
  REMARK    GeneRIF: Results suggest that RIFLE represents a novel signaling
            protein that mediates components of the Wnt/wingless signaling
            pathway and cell adhesion in PC12 cells [RIFLE protein].
REFERENCE   9  (bases 1 to 3120)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   10 (bases 1 to 3120)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445222.9.
            
            On Jun 1, 2020 this sequence version replaced NM_001005373.3.
            
            Summary: This gene encodes a ring finger protein involved in a
            variety of functions, including regulation of signaling pathways
            and cell adhesion, mediation of self-ubiquitylation, and
            involvement in cargo sorting during receptor endocytosis. Mutations
            in this gene have been associated with Charcot-Marie-Tooth disease.
            Multiple transcript variants encoding different isoforms have been
            identified for this gene. [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR11853560.28971.1, AK226106.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300417.11/ ENSP00000300417.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-160               AL445222.9         107304-107463
            161-316             AL445222.9         107723-107878
            317-420             AL445222.9         110290-110393
            421-477             AL445222.9         110792-110848
            478-522             AL445222.9         111370-111414
            523-600             AL445222.9         113110-113187
            601-669             AL445222.9         114797-114865
            670-754             AL445222.9         116967-117051
            755-876             AL445222.9         118046-118167
            877-967             AL445222.9         123534-123624
            968-1098            AL445222.9         129595-129725
            1099-1128           AL445222.9         134728-134757
            1129-1251           AL445222.9         135177-135299
            1252-1391           AL445222.9         135633-135772
            1392-1436           AL445222.9         136977-137021
            1437-1507           AL445222.9         138744-138814
            1508-1607           AL445222.9         141530-141629
            1608-1695           AL445222.9         143470-143557
            1696-1770           AL445222.9         145238-145312
            1771-1851           AL445222.9         147009-147089
            1852-1947           AL445222.9         148596-148691
            1948-2046           AL445222.9         151114-151212
            2047-2178           AL445222.9         151758-151889
            2179-2260           AL445222.9         153047-153128
            2261-2394           AL445222.9         156804-156937
            2395-3120           AL445222.9         158568-159293
FEATURES             Location/Qualifiers
     source          1..3120
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3-q34.11"
     gene            1..3120
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="leucine rich repeat and sterile alpha motif
                     containing 1"
                     /db_xref="GeneID:90678"
                     /db_xref="HGNC:HGNC:25135"
                     /db_xref="MIM:610933"
     exon            1..160
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            161..316
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            317..420
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     CDS             349..2520
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /EC_number="2.3.2.27"
                     /note="isoform 1 is encoded by transcript variant 2;
                     Tsg101-associated ligase; E3 ubiquitin-protein ligase
                     LRSAM1; RING-type E3 ubiquitin transferase LRSAM1; RING
                     finger leucine repeat rich"
                     /codon_start=1
                     /product="E3 ubiquitin-protein ligase LRSAM1 isoform 1"
                     /protein_id="NP_001005373.1"
                     /db_xref="CCDS:CCDS6873.1"
                     /db_xref="GeneID:90678"
                     /db_xref="HGNC:HGNC:25135"
                     /db_xref="MIM:610933"
                     /translation="MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEI
                     PFGAFATCKVLQKKVLIVHTNHLTSLLPKSCSLLSLATIKVLDLHDNQLTALPDDLGQ
                     LTALQVLNVERNQLMQLPRSIGNLTQLQTLNVKDNKLKELPDTVGELRSLRTLNISGN
                     EIQRLPQMLAHVRTLEMLSLDASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQY
                     LLPILEQDGIENSRDSPDGPTDRFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLEL
                     GQREHTQLLQQSSSQKDEILQTVKEEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQN
                     ISSRIQKLLQDNQRQKKSSEILKSLENERIRMEQLMSITQEETESLRRRDVASAMQQM
                     LTESCKNRLIQMAYESQRQNLVQQACSSMAEMDERFQQILSWQQMDQNKAISQILQES
                     AMQKAAFEALQVKKDLMHRQIRSQIKLIETELLQLTQLELKRKSLDTESLQEMISEQR
                     WALSSLLQQLLKEKQQREEELREILTELEAKSETRQENYWLIQYQRLLNQKPLSLKLQ
                     EEGMERQLVALLEELSAEHYLPIFAHHRLSLDLLSQMSPGDLAKVGVSEAGLQHEILR
                     RVQELLDAARIQPELKPPMGEVVTPTAPQEPPESVRPSAPPAELEVQASECVVCLERE
                     AQMIFLNCGHVCCCQQCCQPLRTCPLCRQDIAQRLRIYHSS"
     exon            421..477
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            478..522
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            523..600
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            601..669
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            670..754
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            755..876
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            877..967
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1098
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1128
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1251
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1391
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1436
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1437..1507
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1508..1607
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1695
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..1770
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1771..1851
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1852..1947
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2046
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2178
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2179..2260
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2261..2394
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..3120
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3100..3105
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="hexamer: AATAAA"
     polyA_site      3120
                     /gene="LRSAM1"
                     /gene_synonym="CMT2P; RIFLE; TAL"
                     /note="major polyA site"
ORIGIN      
        1 gttgtgggca ggcgcctgag gctgacggct ggcaagcagg gcaccgcggt gcgctgaagc
       61 tagagattcc gaaagggggt tcgggtagtt cgctccggag aagtctgaga agggtggctc
      121 cggtgatccc agccctagct gtttcccata ttcctttatc cacctgcctt tgaaggagac
      181 cagactccgg ctccgcccgg cccgtgccgg gtggtctgcg gccccgagtc cgtgaccaag
      241 ccctccgagt gatcggcctg ccctcgggtg cacccgcggg tcccaacgtg ggggatccct
      301 ccatccgcaa agccagggtc ctaaagatcg ctctgggaaa agggaaggat gccgctcttc
      361 ttccggaagc ggaaacccag tgaggaggct cggaaacgcc tggagtacca gatgtgtttg
      421 gcaaaagaag ctggggcaga tgacattctc gacatctcta aatgtgagct ctcagagatt
      481 ccatttggag cttttgcaac atgcaaagtt ctgcagaaga aggtgctgat cgtccacacg
      541 aatcacctca cttccctgct tcccaaatcc tgcagcctcc tgagtctggc aaccatcaag
      601 gttctagatc tccacgataa tcagctgaca gcccttcctg acgatctggg gcagctgact
      661 gccctccagg tcttaaacgt ggaaaggaat caactgatgc agctcccacg ttccattggg
      721 aacctgaccc agctccagac tctcaatgtt aaagacaaca agctgaagga gcttccagac
      781 accgtggggg agcttcgaag cctgcgtacc ctcaacatca gtggaaacga gatccagaga
      841 ttgccgcaga tgctggctca cgttcgaacc ctggagatgc tgagccttga cgcctcggcc
      901 atggtctacc cgccgcggga ggtgtgtggt gccggcactg cggccatctt gcagttcctc
      961 tgcaaagagt cagggctgga atactacccc ccttctcagt acttgctgcc aattctggag
     1021 caagatggaa tcgagaactc tcgggacagc cctgatgggc ccacggacag attctcaagg
     1081 gaggagttag agtggcagaa caggttctca gactatgaga agaggaagga acagaagatg
     1141 ctggagaaac tcgagtttga acggcgcctg gaactggggc agcgggagca cacccagctc
     1201 cttcagcaga gcagcagcca gaaggatgag atccttcaga cggtcaagga ggagcagtcc
     1261 cggctggagc agggcctgag tgagcaccag cgccacctca acgcagagcg gcagcggctg
     1321 caggagcagc tgaagcagac ggaacagaac atttccagcc ggatccagaa gctgctgcag
     1381 gacaatcaga gacaaaagaa aagctccgag attttgaaat cgctggaaaa tgaaagaata
     1441 agaatggaac agttgatgtc cataacccag gaggagactg agagcctgcg gcgacgtgac
     1501 gttgcctccg ccatgcagca gatgctgact gagagctgta agaaccggct catccagatg
     1561 gcctacgaat ctcagaggca gaacttggtc cagcaggcct gttccagcat ggccgaaatg
     1621 gatgaacgat tccagcagat tctgtcgtgg cagcaaatgg atcagaacaa agccatcagc
     1681 cagatcctgc aggagagcgc gatgcagaag gctgcgttcg aggcactcca ggtgaagaaa
     1741 gacctgatgc atcggcagat caggagccag attaagttaa tagaaactga gttattgcag
     1801 ctgacacagc tggagttaaa gaggaagtcc ctggacacag agtcactcca ggagatgatc
     1861 tcggagcagc gctgggccct cagctccctg ctccagcagc tgctcaaaga gaagcagcag
     1921 cgagaggaag agctccggga aatcctgacg gagttagaag ccaaaagtga aaccaggcag
     1981 gaaaattact ggctgattca gtatcaacgg cttttgaacc agaagccctt gtccttgaag
     2041 ctgcaagaag aggggatgga gcgccagctg gtggccctcc tggaggagct gtcggctgag
     2101 cactacctgc ccatctttgc gcaccaccgc ctctcactgg acctgctgag ccaaatgagc
     2161 ccaggggacc tggccaaggt gggcgtctca gaagctggcc tgcagcacga gatcctccgg
     2221 agagtccagg aactgctgga tgcagccagg atccagccag agctgaaacc accaatgggt
     2281 gaggtcgtca cccctacggc cccccaggag cctcctgagt ctgtgaggcc atccgctccc
     2341 cctgcagagc tggaggtgca ggcctcagag tgtgtcgtgt gcctggaacg ggaggcccag
     2401 atgatcttcc tcaactgtgg ccacgtctgc tgctgccagc agtgctgcca gccactgcgc
     2461 acctgcccgc tgtgccgcca ggacatcgcc cagcgcctcc gcatctacca cagcagctga
     2521 gtgctgcccg cccacctggg cctggtccta gccctgcctc ggccactgtg agccccgggc
     2581 tcctgctcag ccttgtgcca gccagactcg tatgaggctc ccccctgccc tgggcccctt
     2641 ccccactgcc caggagcccc catcctaagc tccaagcatg tctgggccag gcagaggtgc
     2701 tcctcatcca tgacaccacc agtctgaatg gtcctggggg ctggggctgg agaggccgct
     2761 gcaccaccac ccgagcctgg gagccagcgt cccagcctaa tcacggatct gctgcctccc
     2821 agctgtcttg actgaaggcc accgcccctg caggagcttg ggtcctcatc tgggggccat
     2881 gcacaggccc gtcccaccct gcatgtggga agggagcagg agggcctggc tgggtgaggg
     2941 gaggccttcc tgggaaggcg tgtggtgcag gcctgtgctc acagtggcac cagcaaccct
     3001 gggtctccct ctctgctgct ccccagaacc ccggggccct cctgctctcc acaactgtcc
     3061 ctccttaccc catgtagctc gatccgaagc aggagtgtca ataaacctgt cttcagtgcg
//
