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schwannomin-interacting protein 1 isoform 19 [Homo sapiens]

NCBI Reference Sequence: NP_001401350.1

Identical Proteins FASTA Graphics 

LOCUS       NP_001401350             447 aa            linear   PRI 22-SEP-2024
DEFINITION  schwannomin-interacting protein 1 isoform 19 [Homo sapiens].
ACCESSION   NP_001401350
VERSION     NP_001401350.1
DBSOURCE    REFSEQ: accession NM_001414421.1
KEYWORDS    RefSeq.
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 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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  (residues 1 to 447)
  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 (residues 1 to 447)
  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
            AC021654.25.
            
            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 :: SRR14038192.2034700.1,
                                           SRR14372079.379783.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
FEATURES             Location/Qualifiers
     source          1..447
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q25.32-q25.33"
     Protein         1..447
                     /product="schwannomin-interacting protein 1 isoform 19"
                     /calculated_mol_wt=48666
     Region          228..444
                     /region_name="SCHIP-1"
                     /note="Schwannomin-interacting protein 1; pfam10148"
                     /db_xref="CDD:431089"
     CDS             1..447
                     /gene="SCHIP1"
                     /gene_synonym="SCHIP-1"
                     /coded_by="NM_001414421.1:152..1495"
                     /note="isoform 19 is encoded by transcript variant 26"
                     /db_xref="GeneID:29970"
                     /db_xref="HGNC:HGNC:15678"
                     /db_xref="MIM:619206"
ORIGIN      
        1 mdlgsdagss ssssrassqs nstkvtpcse cksssspggs ldlvsaledy eepfpvyqkk
       61 videwapeed geeeeeeder dqrgyrddrs parepgdvsa rtrsgggggr sattampppv
      121 pngnlhqhdp qdlrhngnvv vagrpscsrg prraiqkpqp aggrrsgrgp aagglclqpp
      181 dggtcvpeep pvppmdweal ekhlaglqfr eqevrnqgqa rtnstsaqkn eresirqkla
      241 lgsffddgpg iytscsksgk pslssrlqsg mnlqicfvnd sgsdkdsdad dsktetsldt
      301 plspmskqss sysdrdttee eseslddmdf ltrqkklqae akmalamakp makmqvevek
      361 qnrkkspvad llphmphise clmkrslkpt dlrdmtigql qvivndlhsq ieslneelvq
      421 lllirdelht eqdamlvdie dltrstc
//
Feature
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