LOCUS       NM_001172700            3768 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens shroom family member 1 (SHROOM1), transcript variant
            1, mRNA.
ACCESSION   NM_001172700
VERSION     NM_001172700.2
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 3768)
  AUTHORS   Zhao,Z., Zhang,H., Xiong,T., Wang,J., Yang,D., Zhu,D., Li,J.,
            Yang,Y., Sun,C., Zhao,Y. and Xi,J.J.
  TITLE     Suppression of SHROOM1 Improves In Vitro and In Vivo Gene
            Integration by Promoting Homology-Directed Repair
  JOURNAL   Int J Mol Sci 21 (16), 5821 (2020)
   PUBMED   32823670
  REMARK    GeneRIF: Suppression of SHROOM1 Improves In Vitro and In Vivo Gene
            Integration by Promoting Homology-Directed Repair.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3768)
  AUTHORS   Zalewski,J.K., Mo,J.H., Heber,S., Heroux,A., Gardner,R.G.,
            Hildebrand,J.D. and VanDemark,A.P.
  TITLE     Structure of the Shroom-Rho Kinase Complex Reveals a Binding
            Interface with Monomeric Shroom That Regulates Cell Morphology and
            Stimulates Kinase Activity
  JOURNAL   J Biol Chem 291 (49), 25364-25374 (2016)
   PUBMED   27758857
  REMARK    GeneRIF: These data provide molecular insight into the Shroom-Rock
            interface and demonstrate that Shroom directly participates in
            regulating cytoskeletal dynamics, adding to its known role in Rock
            localization.
REFERENCE   3  (bases 1 to 3768)
  AUTHORS   Bonin,C.A., Lewallen,E.A., Baheti,S., Bradley,E.W., Stuart,M.J.,
            Berry,D.J., van Wijnen,A.J. and Westendorf,J.J.
  TITLE     Identification of differentially methylated regions in new genes
            associated with knee osteoarthritis
  JOURNAL   Gene 576 (1 Pt 2), 312-318 (2016)
   PUBMED   26484395
  REMARK    GeneRIF: FOXP4 and SHROOM1 genes are hypermethylated in the knee
            osteoarthritic cartilage.
REFERENCE   4  (bases 1 to 3768)
  AUTHORS   Dietz,M.L., Bernaciak,T.M., Vendetti,F., Kielec,J.M. and
            Hildebrand,J.D.
  TITLE     Differential actin-dependent localization modulates the
            evolutionarily conserved activity of Shroom family proteins
  JOURNAL   J Biol Chem 281 (29), 20542-20554 (2006)
   PUBMED   16684770
REFERENCE   5  (bases 1 to 3768)
  AUTHORS   Hagens,O., Ballabio,A., Kalscheuer,V., Kraehenbuhl,J.P.,
            Schiaffino,M.V., Smith,P., Staub,O., Hildebrand,J. and
            Wallingford,J.B.
  TITLE     A new standard nomenclature for proteins related to Apx and Shroom
  JOURNAL   BMC Cell Biol 7, 18 (2006)
   PUBMED   16615870
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AB075840.1 and EB387851.1.
            
            On Jun 3, 2019 this sequence version replaced NM_001172700.1.
            
            Summary: SHROOM family members play diverse roles in the
            development of the nervous system and other tissues (Hagens et al.,
            2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB075840.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2142586,
                                           SAMEA2155984 [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378679.8/ ENSP00000367950.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3766              AB075840.1         252-4017
            3767-3768           EB387851.1         21-22               c
FEATURES             Location/Qualifiers
     source          1..3768
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..3768
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /note="shroom family member 1"
                     /db_xref="GeneID:134549"
                     /db_xref="HGNC:HGNC:24084"
                     /db_xref="MIM:611179"
     exon            1..54
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            55..201
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            202..512
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            513..1532
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             555..3113
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein Shroom1; apical protein 2"
                     /codon_start=1
                     /product="protein Shroom1 isoform 1"
                     /protein_id="NP_001166171.1"
                     /db_xref="CCDS:CCDS54902.1"
                     /db_xref="GeneID:134549"
                     /db_xref="HGNC:HGNC:24084"
                     /db_xref="MIM:611179"
                     /translation="MEALGPGGDRASPASSTSSLDLWHLSMRADSAYSSFSAASGGPE
                     PRTQSPGTDLLPYLDWDYVRVVWGGPGPAPPDAALCTSPRPRPAVAARSGPQPTEVPG
                     TPGPLNRQATPLLYALAAEAEAAAQAAEPPSPPASRAAYRQRLQGAQRRVLRETSFQR
                     KELRMSLPARLRPTVPARPPATHPRSASLSHPGGEGEPARSRAPAPGTAGRGPLANQQ
                     RKWCFSEPGKLDRVGRGGGPARECLGEACSSSGLPGPEPLEFQHPALAKFEDHEVGWL
                     PETQPQGSMNLDSGSLKLGDAFRPASRSRSASGEVLGSWGGSGGTIPIVQAVPQGAET
                     PRPLFQTKLSRFLPQKEAAVMYPAELPQSSPADSEQRVSETCIVPAWLPSLPDEVFLE
                     EAPLVRMRSPPDPHASQGPPASVHASDQPYGTGLGQRTGQVTVPTEYPLHECPGTAGA
                     DDCWQGVNGSVGISRPTSHTPTGTANDNIPTIDPTGLTTNPPTAAESDLLKPVPADAL
                     GLSGNDTPGPSHNTALARGTGQPGSRPTWPSQCLEELVQELARLDPSLCDPLASQPSP
                     EPPLGLLDGLIPLAEVRAAMRPACGEAGEEAASTFEPGSYQFSFTQLLPAPREETRLE
                     NPATHPVLDQPCGQGLPAPNNSIQGKKVELAARLQKMLQDLHTEQERLQGEAQAWARR
                     QAALEAAVRQACAPQELERFSRFMADLERVLGLLLLLGSRLARVRRALARAASDSDPD
                     EQASLLQRLRLLQRQEEDAKELKEHVARRERAVREVLVRALPVEELRVYCALLAGKAA
                     VLAQQRNLDERIRLLQDQLDAIRDDLGHHAPSPSPARPPGTCPPVQPPFPLLLT"
     exon            1533..1588
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1795
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..2365
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2366..2507
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2780
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2781..3768
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3749..3754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /note="hexamer: AATAAA"
     polyA_site      3768
                     /gene="SHROOM1"
                     /gene_synonym="APXL2"
                     /note="major polyA site"
ORIGIN      
        1 gatgtcaccg cgcggctgcg acggcccagg agcgcgtctc ggcgggagcc tcagagcctc
       61 actttgtcgc caggctggag tgcagtggcg cgatctcggc tcactacaac ttccgcctcc
      121 cgggttcaag cgattcttct gcctcagcct cccgagtagc tgggactaca ggcgtgtgcc
      181 accacgccca gctaattttt gggaaagatc acatggagaa gccaacagaa cggccaggaa
      241 gcagcctggg tggaacaggg ttggggagga aaggaacatg ggtacattct cagcgttcca
      301 ggaggtctca gggtaaaggc tgcttgtgtg ggcaagggga gcctggcagg gaatgagctg
      361 gtcccaattc cttcccctga gctgggccct caaccttcag aggtgctccc tgggactggt
      421 cctacttcct ctgccacctc tgatcccaag gtgactctgc caaaatctgg gggatgccag
      481 cgcttgtgac ggtgtgacca gggaggggaa gtgacccacg cagccaccca gcctcagcac
      541 tcatctgcgc agccatggag gccctgggac ctgggggcga ccgcgcctcc ccggcctcgt
      601 ccactagcag cctggacctg tggcatctgt ccatgcgcgc ggactcggcc tacagctctt
      661 tctccgcagc ctccggcggc cccgagccgc gcacgcagtc gccggggaca gacctccttc
      721 cttacctaga ctgggactac gtgcgtgtgg tttggggcgg cccgggcccc gccccgcccg
      781 acgctgccct ttgcacatcc ccgcggcccc ggcccgcggt tgcagcccgc agtgggccgc
      841 agccaacaga ggtcccgggg accccgggac cactgaacag gcaggccacc ccgctgctgt
      901 acgcgctggc ggccgaggcg gaggccgcgg cgcaggctgc cgagccgccc agcccgccgg
      961 cctcgagggc cgcctaccgc cagcggcttc agggcgcgca gcggcgagtg ctccgggaga
     1021 cgtcgttcca gcgcaaggag ctccgcatga gcctgcccgc ccgtctgcgg cccactgtcc
     1081 cagcgcggcc cccggcgact cacccgcgct ccgcctcgct cagccacccg ggcggggagg
     1141 gggagccggc gcgctcccgg gctcccgcgc caggaactgc cggccggggt cccctcgcca
     1201 accagcagcg gaagtggtgc ttctcagagc caggaaagct ggatcgtgtg ggtcggggcg
     1261 gtgggccggc gcgggaatgc ctgggtgagg cctgctccag ctctggcctc cctgggcccg
     1321 agcccttgga gttccagcat ccggcgctgg ctaagtttga agatcacgag gtcggatggc
     1381 tgcccgagac gcaaccccaa ggctccatga acctggactc cgggtccttg aagctcggtg
     1441 atgccttcag gcccgccagt cggagtcgga gcgcttcagg cgaagtcttg ggttcctggg
     1501 gaggatcagg agggaccata cccattgtcc aggctgttcc ccaaggagca gaaaccccca
     1561 gaccattgtt tcagaccaaa ctttccaggt tcttgcctca gaaagaggct gcggtgatgt
     1621 atcctgcaga gttaccccag agcagccctg ctgacagtga acagagggtc tcagagacct
     1681 gcattgtgcc tgcctggctc ccctcccttc ctgatgaagt gttcctagaa gaggccccac
     1741 tggtcagaat gagatcacca ccagaccccc atgcctccca ggggccccca gccagtgtcc
     1801 atgcctctga ccagccgtat ggaactggct taggccaaag aactggccag gttacagtcc
     1861 ccacagagta cccgctccat gagtgtccag gaactgcagg ggcagatgac tgctggcagg
     1921 gggtgaatgg ttctgtaggt atttccaggc ccacaagcca cacccccact gggactgcaa
     1981 atgataacat cccaactatt gaccccactg gactgaccac caatcccccc acagctgcag
     2041 agagtgacct cctcaaacct gtcccagctg atgccttggg actttcaggc aatgatactc
     2101 caggtccctc tcacaatact gccctagcca ggggcactgg ccagcctggt tccaggccca
     2161 catggcctag tcagtgcctc gaggagctgg ttcaggagct ggccagatta gatccctctc
     2221 tatgtgaccc tcttgcttcc cagcccagcc cagagccacc cctgggcctg ctggatggac
     2281 tgattccttt agcagaggtc cgggctgcaa tgcggcctgc ctgtggggag gctggagagg
     2341 aggctgccag tacttttgag ccagggtcct atcagttcag cttcacccag ctcctgccgg
     2401 ctcctcggga ggagacaagg cttgaaaacc ctgccaccca ccctgtgctt gaccagccat
     2461 gtgggcaggg gctccctgca ccaaacaaca gcatccaggg caagaaagtg gagctggccg
     2521 cccgcctcca aaagatgctt caggaccttc acacggagca ggagcggctg cagggggagg
     2581 cacaagcgtg ggccaggcgc caagcggctc tggaggctgc agtgcgccag gcctgtgccc
     2641 ctcaggagct ggagcggttc agccggttca tggccgacct agagcgcgtg cttggccttc
     2701 tgctgctgct gggcagtcgc ctggcgcgcg tgcgccgcgc cctggcccgg gcggcctcag
     2761 acagcgaccc tgatgagcag gcctccctgc tgcagcgact ccggctcctg cagcggcagg
     2821 aggaggacgc caaggagctg aaggagcacg tagcgcggcg cgagcgggcc gtgcgggagg
     2881 tgctggtgcg agcactaccg gtggaggagc tgcgcgtcta ttgcgccctg ctggcgggca
     2941 aggccgccgt cctggcccag cagcgcaacc tggacgagcg catccgcctc cttcaggacc
     3001 aactggacgc catcagggac gaccttggcc atcatgcccc gtctcccagc ccggcgcggc
     3061 ccccagggac ctgtcctcca gttcagccgc ccttccctct tctccttaca tagttatagg
     3121 tggagagggt ggggtgcacc gcccctatct ctcacccacg taagtggggt gatgctgatt
     3181 tagtctctgc ttttcccttg agggattggg gaggacccag tccaggcctt tctaagatac
     3241 tcctccagcc gggcgcggtg gctcacgcct gtaatcccag cactttggga ggccgaggcg
     3301 ggcggatcac aaggtcagga gatcgagacc atcctggcta acacggtgaa accccgtctc
     3361 tactaaaaat ataaaaaatt agccgggcgt ggtggcgggt gcctgtattg ccagctactc
     3421 ggaaggctga ggcaggagaa tggcgtgaac ctgggaggtg gagcttgcag tgagcggaca
     3481 tcgcgccact gcactccagc ctgggcgaca gagcaagact ccgtctcaaa aaaaaaaaaa
     3541 aaaaaaaaaa aaaaaaagat acttctccaa agtgttctca tgtggcctca cccaggtctt
     3601 gtgtattatt tggtaattaa tttatggatc ttaaaaactg cagtattccc ccattttgtg
     3661 atgagagtgt ggggctggca ggggttggtt ggagggagga gagaagacag aggagcactt
     3721 aaggtgcaaa gcagcctatt ttttcttcaa taaaaattgt taagagaa
//
