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Q9P0W5

- SCHI1_HUMAN

UniProt

Q9P0W5 - SCHI1_HUMAN

Protein

Schwannomin-interacting protein 1

Gene

SCHIP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Schwannomin-interacting protein 1
    Short name:
    SCHIP-1
    Gene namesi
    Name:SCHIP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:15678. SCHIP1.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Partially colocalizes with NF2 beneath the cytoplasmic membrane.

    GO - Cellular componenti

    1. cytoplasm Source: ProtInc

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34997.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 487487Schwannomin-interacting protein 1PRO_0000288927Add
    BLAST

    Proteomic databases

    PaxDbiQ9P0W5.
    PRIDEiQ9P0W5.

    PTM databases

    PhosphoSiteiQ9P0W5.

    Expressioni

    Tissue specificityi

    Isoform 5 and isoform 6 are highly expressed in the brain. Both isoforms derive from naturally occurring readthrough transcripts which produce IQCJ-SCHIP1 fusion proteins.1 Publication

    Gene expression databases

    BgeeiQ9P0W5.
    CleanExiHS_SCHIP1.
    GenevestigatoriQ9P0W5.

    Organism-specific databases

    HPAiHPA003243.
    HPA003445.

    Interactioni

    Subunit structurei

    Isoform 5 interacts (via C-terminal IQ motif) with calmodulin in the absence of Ca2+ By similarity. Isoform 5 interacts (via C-terminus) with ANK3 (via N-terminal ANK repeats); this interaction is required for the localization at axon initial segments (AISs) and nodes of Ranvier (NRs) By similarity. Self-associates through its coiled coil domain. Interacts with NF2 isoform 4, but not NF2 isoform 1. Interacts with NF2 variant PHE-119 DEL.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-1397509,EBI-1397509
    PSMD4P550362EBI-1397509,EBI-359318
    SCOCQ9UIL14EBI-1397509,EBI-2686537
    ZC3H13Q5T2002EBI-1397509,EBI-2679720

    Protein-protein interaction databases

    BioGridi119003. 7 interactions.
    IntActiQ9P0W5. 47 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P0W5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili424 – 45835Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi32 – 6736Ser-richAdd
    BLAST
    Compositional biasi99 – 1068Poly-Glu
    Compositional biasi132 – 1365Poly-Gly

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG267178.
    HOVERGENiHBG054427.
    InParanoidiQ9P0W5.
    OMAiTPCSECK.
    OrthoDBiEOG70CR7D.
    PhylomeDBiQ9P0W5.
    TreeFamiTF323326.

    Family and domain databases

    InterProiIPR015649. SCHIP_1.
    [Graphical view]
    PANTHERiPTHR13103. PTHR13103. 1 hit.
    PfamiPF10148. SCHIP-1. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P0W5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MERSGQRVTT WDCDQGKHSD SDYREDGMDL GSDAGSSSSS SRASSQSNST    50
    KVTPCSECKS SSSPGGSLDL VSALEDYEEP FPVYQKKVID EWAPEEDGEE 100
    EEEEDERDQR GYRDDRSPAR EPGDVSARTR SGGGGGRSAT TAMPPPVPNG 150
    NLHQHDPQDL RHNGNVVVAG RPSCSRGPRR AIQKPQPAGG RRSGRGPAAG 200
    GLCLQPPDGG TCVPEEPPVP PMDWEALEKH LAGLQFREQE VRNQGQARTN 250
    STSAQKNERE SIRQKLALGS FFDDGPGIYT SCSKSGKPSL SSRLQSGMNL 300
    QICFVNDSGS DKDSDADDSK TETSLDTPLS PMSKQSSSYS DRDTTEEESE 350
    SLDDMDFLTR QKKLQAEAKM ALAMAKPMAK MQVEVEKQNR KKSPVADLLP 400
    HMPHISECLM KRSLKPTDLR DMTIGQLQVI VNDLHSQIES LNEELVQLLL 450
    IRDELHTEQD AMLVDIEDLT RHAESQQKHM AEKMPAK 487
    Length:487
    Mass (Da):53,480
    Last modified:October 1, 2000 - v1
    Checksum:i86F86EDD64A475BF
    GO
    Isoform 2 (identifier: Q9P0W5-2) [UniParc]FASTAAdd to Basket

    Also known as: SCHIP-1-D241/253

    The sequence of this isoform differs from the canonical sequence as follows:
         241-253: Missing.

    Show »
    Length:474
    Mass (Da):52,079
    Checksum:i5C4EF8E1867A78F9
    GO
    Isoform 3 (identifier: Q9P0W5-3) [UniParc]FASTAAdd to Basket

    Also known as: SCHIP-1-D22/253

    The sequence of this isoform differs from the canonical sequence as follows:
         22-253: Missing.

    Show »
    Length:255
    Mass (Da):28,691
    Checksum:i2FCF0C1AE277E4BE
    GO
    Isoform 4 (identifier: Q9P0W5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-243: Missing.
         244-253: QGQARTNSTS → MVHQDNCSYQ

    Show »
    Length:244
    Mass (Da):27,492
    Checksum:iC4576A71F9F216B6
    GO
    Isoform 5 (identifier: Q9P0W5-5) [UniParc]FASTAAdd to Basket

    Also known as: IQCJ-SCHIP1 variant 1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MERSGQRVTTWDCDQGKHSDS → MRLEELKRLQ...MNTFSDSSTP

    Note: Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein.

    Show »
    Length:563
    Mass (Da):62,248
    Checksum:i54C0F2D21E4B2739
    GO
    Isoform 6 (identifier: Q9P0W5-6) [UniParc]FASTAAdd to Basket

    Also known as: IQCJ-SCHIP1 variant 2

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MERSGQRVTTWDCDQGKHSDS → MRLEELKRLQ...MNTFSDSSTP

    Note: Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein.

    Show »
    Length:536
    Mass (Da):59,129
    Checksum:i6FB3CEF2E518FD02
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti154 – 1541Q → R in ABA42889. (PubMed:17045569)Curated
    Sequence conflicti154 – 1541Q → R in ABA42890. (PubMed:17045569)Curated
    Sequence conflicti178 – 1781Missing in AAH36535. (PubMed:15489334)Curated
    Sequence conflicti460 – 4601D → A in ABA42889. (PubMed:17045569)Curated
    Sequence conflicti460 – 4601D → A in ABA42890. (PubMed:17045569)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti101 – 1011E → K.
    Corresponds to variant rs3732851 [ dbSNP | Ensembl ].
    VAR_051332
    Natural varianti481 – 4811A → V.1 Publication
    Corresponds to variant rs17850021 [ dbSNP | Ensembl ].
    VAR_032534

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 243243Missing in isoform 4. 2 PublicationsVSP_025827Add
    BLAST
    Alternative sequencei1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENHQLAMDAENNIEKYP LNLQPLESKVKIIQRAWREY LQRQEPLGKRSPSPPSVSSE KLSSSVSMNTFSDSSTP in isoform 5. 1 PublicationVSP_030598Add
    BLAST
    Alternative sequencei1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENIQRAWREYLQRQEPL GKRSPSPPSVSSEKLSSSVS MNTFSDSSTP in isoform 6. 1 PublicationVSP_030599Add
    BLAST
    Alternative sequencei22 – 253232Missing in isoform 3. 1 PublicationVSP_025828Add
    BLAST
    Alternative sequencei241 – 25313Missing in isoform 2. 1 PublicationVSP_025829Add
    BLAST
    Alternative sequencei244 – 25310QGQARTNSTS → MVHQDNCSYQ in isoform 4. 2 PublicationsVSP_025830

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF145713 mRNA. Translation: AAF34241.1.
    AF145714 mRNA. Translation: AAF34242.1.
    AF145715 mRNA. Translation: AAF34243.1.
    DQ157847 mRNA. Translation: ABA42889.1.
    DQ157848 mRNA. Translation: ABA42890.1.
    AK091871 mRNA. Translation: BAG52432.1.
    CH471052 Genomic DNA. Translation: EAW78662.1.
    BC005947 mRNA. Translation: AAH05947.1.
    BC036535 mRNA. Translation: AAH36535.1.
    AF070614 mRNA. Translation: AAC25386.1.
    CCDSiCCDS3186.1. [Q9P0W5-1]
    CCDS56292.1. [Q9P0W5-2]
    CCDS56293.1. [Q9P0W5-3]
    CCDS56294.1. [Q9P0W5-4]
    RefSeqiNP_001184036.1. NM_001197107.1. [Q9P0W5-2]
    NP_001184037.1. NM_001197108.1. [Q9P0W5-3]
    NP_001184038.1. NM_001197109.1. [Q9P0W5-4]
    NP_001184043.1. NM_001197114.1. [Q9P0W5-6]
    NP_055390.1. NM_014575.3. [Q9P0W5-1]
    UniGeneiHs.134665.

    Genome annotation databases

    EnsembliENST00000445224; ENSP00000404860; ENSG00000151967. [Q9P0W5-4]
    GeneIDi100505385.
    29970.
    KEGGihsa:100505385.
    hsa:29970.
    UCSCiuc003fcq.2. human. [Q9P0W5-5]
    uc003fcr.2. human. [Q9P0W5-6]
    uc003fcs.2. human. [Q9P0W5-1]
    uc003fct.2. human. [Q9P0W5-2]
    uc003fcu.2. human. [Q9P0W5-4]
    uc021xgm.1. human. [Q9P0W5-3]

    Polymorphism databases

    DMDMi74719771.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF145713 mRNA. Translation: AAF34241.1 .
    AF145714 mRNA. Translation: AAF34242.1 .
    AF145715 mRNA. Translation: AAF34243.1 .
    DQ157847 mRNA. Translation: ABA42889.1 .
    DQ157848 mRNA. Translation: ABA42890.1 .
    AK091871 mRNA. Translation: BAG52432.1 .
    CH471052 Genomic DNA. Translation: EAW78662.1 .
    BC005947 mRNA. Translation: AAH05947.1 .
    BC036535 mRNA. Translation: AAH36535.1 .
    AF070614 mRNA. Translation: AAC25386.1 .
    CCDSi CCDS3186.1. [Q9P0W5-1 ]
    CCDS56292.1. [Q9P0W5-2 ]
    CCDS56293.1. [Q9P0W5-3 ]
    CCDS56294.1. [Q9P0W5-4 ]
    RefSeqi NP_001184036.1. NM_001197107.1. [Q9P0W5-2 ]
    NP_001184037.1. NM_001197108.1. [Q9P0W5-3 ]
    NP_001184038.1. NM_001197109.1. [Q9P0W5-4 ]
    NP_001184043.1. NM_001197114.1. [Q9P0W5-6 ]
    NP_055390.1. NM_014575.3. [Q9P0W5-1 ]
    UniGenei Hs.134665.

    3D structure databases

    ProteinModelPortali Q9P0W5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119003. 7 interactions.
    IntActi Q9P0W5. 47 interactions.

    PTM databases

    PhosphoSitei Q9P0W5.

    Polymorphism databases

    DMDMi 74719771.

    Proteomic databases

    PaxDbi Q9P0W5.
    PRIDEi Q9P0W5.

    Protocols and materials databases

    DNASUi 29970.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000445224 ; ENSP00000404860 ; ENSG00000151967 . [Q9P0W5-4 ]
    GeneIDi 100505385.
    29970.
    KEGGi hsa:100505385.
    hsa:29970.
    UCSCi uc003fcq.2. human. [Q9P0W5-5 ]
    uc003fcr.2. human. [Q9P0W5-6 ]
    uc003fcs.2. human. [Q9P0W5-1 ]
    uc003fct.2. human. [Q9P0W5-2 ]
    uc003fcu.2. human. [Q9P0W5-4 ]
    uc021xgm.1. human. [Q9P0W5-3 ]

    Organism-specific databases

    CTDi 100505385.
    29970.
    GeneCardsi GC03P158991.
    HGNCi HGNC:15678. SCHIP1.
    HPAi HPA003243.
    HPA003445.
    neXtProti NX_Q9P0W5.
    PharmGKBi PA34997.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG267178.
    HOVERGENi HBG054427.
    InParanoidi Q9P0W5.
    OMAi TPCSECK.
    OrthoDBi EOG70CR7D.
    PhylomeDBi Q9P0W5.
    TreeFami TF323326.

    Miscellaneous databases

    NextBioi 52715.
    PROi Q9P0W5.

    Gene expression databases

    Bgeei Q9P0W5.
    CleanExi HS_SCHIP1.
    Genevestigatori Q9P0W5.

    Family and domain databases

    InterProi IPR015649. SCHIP_1.
    [Graphical view ]
    PANTHERi PTHR13103. PTHR13103. 1 hit.
    Pfami PF10148. SCHIP-1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins."
      Goutebroze L., Brault E., Muchardt C., Camonis J., Thomas G.
      Mol. Cell. Biol. 20:1699-1712(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), INTERACTION WITH NF2, SUBUNIT, SUBCELLULAR LOCATION.
      Tissue: Brain.
    2. "IQCJ-SCHIP1, a novel fusion transcript encoding a calmodulin-binding IQ motif protein."
      Kwasnicka-Crawford D.A., Carson A.R., Scherer S.W.
      Biochem. Biophys. Res. Commun. 350:890-899(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 5 AND 6), TISSUE SPECIFICITY.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT VAL-481.
      Tissue: Skeletal muscle.
    6. Yu W., Gibbs R.A.
      Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 107-487 (ISOFORM 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiSCHI1_HUMAN
    AccessioniPrimary (citable) accession number: Q9P0W5
    Secondary accession number(s): B3KRM0
    , O75543, Q00P30, Q00P31, Q7Z3Y3, Q8IY83, Q9P0W3, Q9P0W4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 83 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations

    External Data

    Dasty 3