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
//