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Q9P0W5

- SCHI1_HUMAN

UniProt

Q9P0W5 - SCHI1_HUMAN

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Protein

Schwannomin-interacting protein 1

Gene
SCHIP1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. identical protein binding Source: IntAct
  2. protein binding Source: IntAct
Complete GO annotation...

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

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
Complete GO annotation...

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.1 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.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili424 – 45835 Reviewed predictionAdd
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

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. VSP_025827Add
BLAST
Alternative sequencei1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENHQLAMDAENNIEKYP LNLQPLESKVKIIQRAWREY LQRQEPLGKRSPSPPSVSSE KLSSSVSMNTFSDSSTP in isoform 5. VSP_030598Add
BLAST
Alternative sequencei1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENIQRAWREYLQRQEPL GKRSPSPPSVSSEKLSSSVS MNTFSDSSTP in isoform 6. VSP_030599Add
BLAST
Alternative sequencei22 – 253232Missing in isoform 3. VSP_025828Add
BLAST
Alternative sequencei241 – 25313Missing in isoform 2. VSP_025829Add
BLAST
Alternative sequencei244 – 25310QGQARTNSTS → MVHQDNCSYQ in isoform 4. VSP_025830

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti154 – 1541Q → R in ABA42889. 1 Publication
Sequence conflicti154 – 1541Q → R in ABA42890. 1 Publication
Sequence conflicti178 – 1781Missing in AAH36535. 1 Publication
Sequence conflicti460 – 4601D → A in ABA42889. 1 Publication
Sequence conflicti460 – 4601D → A in ABA42890. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 82 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

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