LOCUS       NM_014575               2626 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens schwannomin interacting protein 1 (SCHIP1), transcript
            variant 1, mRNA.
ACCESSION   NM_014575
VERSION     NM_014575.4
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 2626)
  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   2  (bases 1 to 2626)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2626)
  AUTHORS   Elsaid,M.F., Chalhoub,N., Ben-Omran,T., Kamel,H., Al Mureikhi,M.,
            Ibrahim,K., Elizabeth Ross,M. and Abdel Aleem,A.K.
  TITLE     Homozygous nonsense mutation in SCHIP1/IQCJ-SCHIP1 causes a
            neurodevelopmental brain malformation syndrome
  JOURNAL   Clin Genet 93 (2), 387-391 (2018)
   PUBMED   28787085
  REMARK    GeneRIF: This is the first report of a SCHIP1/IQCJ-SCHIP1 point
            mutation in humans associated with a neurological-developmental
            phenotype
REFERENCE   4  (bases 1 to 2626)
  AUTHORS   Cole,J.B., Manyama,M., Kimwaga,E., Mathayo,J., Larson,J.R.,
            Liberton,D.K., Lukowiak,K., Ferrara,T.M., Riccardi,S.L., Li,M.,
            Mio,W., Prochazkova,M., Williams,T., Li,H., Jones,K.L., Klein,O.D.,
            Santorico,S.A., Hallgrimsson,B. and Spritz,R.A.
  TITLE     Genomewide Association Study of African Children Identifies
            Association of SCHIP1 and PDE8A with Facial Size and Shape
  JOURNAL   PLoS Genet 12 (8), e1006174 (2016)
   PUBMED   27560698
  REMARK    GeneRIF: SNPs within genes SCHIP1 and PDE8A were associated with
            measures of facial size in both the GWAS and replication cohorts
            and passed a stringent genomewide significance threshold adjusted
            for multiple testing of 34 correlated traits. For both SCHIP1 and
            PDE8A, we demonstrated clear expression in the developing mouse
            face by both whole-mount in situ hybridization and RNA-seq
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2626)
  AUTHORS   Papandreou,M.J., Vacher,H., Fache,M.P., Klingler,E.,
            Rueda-Boroni,F., Ferracci,G., Debarnot,C., Piperoglou,C., Garcia
            Del Cano,G., Goutebroze,L. and Dargent,B.
  TITLE     CK2-regulated schwannomin-interacting protein IQCJ-SCHIP-1
            association with AnkG contributes to the maintenance of the axon
            initial segment
  JOURNAL   J Neurochem 134 (3), 527-537 (2015)
   PUBMED   25950943
REFERENCE   6  (bases 1 to 2626)
  AUTHORS   Martin,P.M., Carnaud,M., Garcia del Cano,G., Irondelle,M.,
            Irinopoulou,T., Girault,J.A., Dargent,B. and Goutebroze,L.
  TITLE     Schwannomin-interacting protein-1 isoform IQCJ-SCHIP-1 is a late
            component of nodes of Ranvier and axon initial segments
  JOURNAL   J Neurosci 28 (24), 6111-6117 (2008)
   PUBMED   18550753
REFERENCE   7  (bases 1 to 2626)
  AUTHORS   Hunt,K.A., Zhernakova,A., Turner,G., Heap,G.A., Franke,L.,
            Bruinenberg,M., Romanos,J., Dinesen,L.C., Ryan,A.W., Panesar,D.,
            Gwilliam,R., Takeuchi,F., McLaren,W.M., Holmes,G.K., Howdle,P.D.,
            Walters,J.R., Sanders,D.S., Playford,R.J., Trynka,G., Mulder,C.J.,
            Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M., O'Morain,C.,
            Kennedy,N.P., Kelleher,D., Pennington,D.J., Strachan,D.P.,
            McArdle,W.L., Mein,C.A., Wapenaar,M.C., Deloukas,P., McGinnis,R.,
            McManus,R., Wijmenga,C. and van Heel,D.A.
  TITLE     Newly identified genetic risk variants for celiac disease related
            to the immune response
  JOURNAL   Nat Genet 40 (4), 395-402 (2008)
   PUBMED   18311140
REFERENCE   8  (bases 1 to 2626)
  AUTHORS   Kwasnicka-Crawford,D.A., Carson,A.R. and Scherer,S.W.
  TITLE     IQCJ-SCHIP1, a novel fusion transcript encoding a
            calmodulin-binding IQ motif protein
  JOURNAL   Biochem Biophys Res Commun 350 (4), 890-899 (2006)
   PUBMED   17045569
REFERENCE   9  (bases 1 to 2626)
  AUTHORS   Goutebroze,L., Der Sarkissian,H., Brault,E. and Thomas,G.
  TITLE     Assignment of the schwannomin-interacting protein 1 (SCHIP1) gene
            to human chromosome band 3q25 by in situ hybridization and with
            somatic cell hybrids
  JOURNAL   Cytogenet Cell Genet 94 (1-2), 96-97 (2001)
   PUBMED   11701967
  REMARK    GeneRIF: chromosome 3 mapping by in situ hybridization and somatic
            cell hybrids
REFERENCE   10 (bases 1 to 2626)
  AUTHORS   Goutebroze,L., Brault,E., Muchardt,C., Camonis,J. and Thomas,G.
  TITLE     Cloning and characterization of SCHIP-1, a novel protein
            interacting specifically with spliced isoforms and naturally
            occurring mutant NF2 proteins
  JOURNAL   Mol Cell Biol 20 (5), 1699-1712 (2000)
   PUBMED   10669747
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC107312.9, BC036535.2, AF145713.1 and CA431197.1.
            
            On Aug 14, 2020 this sequence version replaced NM_014575.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and 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 :: BC036535.2, AF145713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000638749.2/ ENSP00000491030.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC107312.9         123185-123187
            4-511               BC036535.2         4-511
            512-2617            AF145713.1         4-2109
            2618-2626           CA431197.1         25-33               c
FEATURES             Location/Qualifiers
     source          1..2626
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32-q25.33"
     gene            1..2626
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /note="schwannomin interacting protein 1"
                     /db_xref="GeneID:29970"
                     /db_xref="HGNC:HGNC:15678"
                     /db_xref="MIM:619206"
     exon            1..640
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             578..2041
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="schwannomin-interacting protein 1 isoform 1"
                     /protein_id="NP_055390.1"
                     /db_xref="CCDS:CCDS3186.1"
                     /db_xref="GeneID:29970"
                     /db_xref="HGNC:HGNC:15678"
                     /db_xref="MIM:619206"
                     /translation="MERSGQRVTTWDCDQGKHSDSDYREDGMDLGSDAGSSSSSSRAS
                     SQSNSTKVTPCSECKSSSSPGGSLDLVSALEDYEEPFPVYQKKVIDEWAPEEDGEEEE
                     EEDERDQRGYRDDRSPAREPGDVSARTRSGGGGGRSATTAMPPPVPNGNLHQHDPQDL
                     RHNGNVVVAGRPSCSRGPRRAIQKPQPAGGRRSGRGPAAGGLCLQPPDGGTCVPEEPP
                     VPPMDWEALEKHLAGLQFREQEVRNQGQARTNSTSAQKNERESIRQKLALGSFFDDGP
                     GIYTSCSKSGKPSLSSRLQSGMNLQICFVNDSGSDKDSDADDSKTETSLDTPLSPMSK
                     QSSSYSDRDTTEEESESLDDMDFLTRQKKLQAEAKMALAMAKPMAKMQVEVEKQNRKK
                     SPVADLLPHMPHISECLMKRSLKPTDLRDMTIGQLQVIVNDLHSQIESLNEELVQLLL
                     IRDELHTEQDAMLVDIEDLTRHAESQQKHMAEKMPAK"
     exon            641..1336
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1337..1455
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1456..1573
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1771
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1895
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..1989
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2626
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2603..2608
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /note="hexamer: AATAAA"
     polyA_site      2626
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /note="major polyA site"
ORIGIN      
        1 agaaagagat aatctgtgaa agccacagag cctgatttct gctgtgataa tcttcagcag
       61 accgaggctg gggcgagaat gaggcagacc tgtttacatg gtgtgtgcag tgccttgtgg
      121 aattcttaac tctattttat tgtattattt ttaatcgaaa agtagatcag atgatagcat
      181 gaagtgaatc ggctgctttg gactaatggg atcttctttt ctgcattaag atcaagaact
      241 tttctggaat cctctgttct ccgagtagcc ttgtcttctc tgtgtgtttt atcaatttga
      301 agaacactgg caaaaatcag caaacttcat ctcccaaaaa gctctcgctc ttttttgcca
      361 atacttgaag atttctgctc caaaatctac tttgagctgc ttgagcatgg tggttgataa
      421 ccgaagggca aaagcatcac ttatttagtg tgtgttatag aaatttttta gacaacctta
      481 ctagctaacc caggtgaccc tttacggatt tctttcaaag ccaatttgaa taaacaactc
      541 ttccctctca aatgggcaag agtaactctt cagcaccatg gagaggtccg ggcagcgtgt
      601 tacaacgtgg gactgtgacc agggcaagca ctctgacagt gattaccgag aggatgggat
      661 ggatctaggc agtgacgccg gcagcagcag cagcagcagc cgcgccagtt cacagtccaa
      721 ctccaccaaa gtgacccctt gctccgagtg caaatcttca tcgtcgccgg ggggcagcct
      781 ggacttggtg tctgccctgg aggactatga ggagcccttc ccggtctacc agaagaaggt
      841 gattgatgag tgggcgccgg aggaggacgg ggaggaggag gaagaggagg acgagcgcga
      901 ccagcgaggg taccgggatg accgctctcc ggcccgggaa ccgggggacg taagcgccag
      961 gacccgcagc ggcggcggcg ggggcaggag cgccaccacc gccatgccgc ccccggtgcc
     1021 caacggcaac ctccaccagc acgaccccca ggacctcagg cacaatggca acgtggtggt
     1081 ggctggccgg ccgagctgtt cccggggccc ccgccgggcg atccaaaagc cccagccggc
     1141 tgggggccgg cgcagtggcc gcggcccggc ggctgggggg ctctgccttc agcccccaga
     1201 cggcgggacg tgcgtccccg aagagccccc ggtgccacct atggattggg aggcgctgga
     1261 gaagcatctg gccgggctgc agttccggga gcaggaggta cggaaccagg gccaggcgag
     1321 gaccaactcc acctccgcac agaaaaatga gagagagtct atcagacaga agttggcact
     1381 tggaagcttc tttgatgatg gcccaggaat ttataccagc tgtagcaaaa gtgggaagcc
     1441 aagcctttcc tcccgactgc agagtgggat gaacttgcag atatgctttg tcaacgacag
     1501 tggcagtgat aaggacagtg atgctgatga cagtaagact gaaaccagct tggacacccc
     1561 cttgtctccc atgagcaaac agagttcttc ctattctgat agagacacta ctgaagagga
     1621 gtctgaatcc ttggatgaca tggacttcct tacaaggcaa aagaaattgc aagctgaagc
     1681 caaaatggcc cttgccatgg ccaaaccaat ggccaaaatg caagtagaag tggagaaaca
     1741 gaacaggaaa aagtctcccg tcgctgatct tctgccacac atgcctcata taagtgaatg
     1801 cttgatgaaa agaagtttaa aacccaccga cctgagagac atgactattg ggcagctaca
     1861 agtgatagtc aatgatctcc attcccagat agaaagcttg aatgaagagt tggtccagct
     1921 gcttctcatc cgagatgagc tgcacacaga gcaggatgcc atgctggtgg acattgaaga
     1981 cttgaccaga catgctgaaa gtcagcagaa gcacatggca gagaaaatgc ctgcaaagtg
     2041 aaaagaagcc attcaaccag agaacaagct agaatttatt ttgcttctgt ggttgtaaaa
     2101 atgctgttgc taaaggtggc gcagaaacaa atatcagtgt tagtcattga taatgtctga
     2161 agcttaatgt ccagtgattg gcctttgctt cttaatttat tttaattttt tacttgtgcc
     2221 acttaatatc aggcatttta ataaaatatt gttacaaaaa atgtacagta ctgacaccac
     2281 cacaaatcat ggttaataaa agagagtagt tttaacttta tttttatttg tttagagatt
     2341 ttaagttgga acagtatttt cccattgact acttttcatt cttcactgta gttttaaaga
     2401 agaactgtaa atgacggtgc tatacaagtc aaaaaataca tgcctgcctc gtagtgaagt
     2461 tgtagctctc cgtaatatgt atattttact cagttttcaa cattttgtga atgttgacta
     2521 cctgaagttc ctttttagat gtgctattaa cattctgttg gattcagagg gttccttgaa
     2581 agttttatgt ataaatatgt aaaataaaaa ttaaaacttt gtttca
//
