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Q9P0W5 (SCHI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Schwannomin-interacting protein 1

Short name=SCHIP-1
Gene names
Name:SCHIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length487 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

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. Ref.1

Subcellular location

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

Tissue specificity

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. Ref.2

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functionidentical protein binding

Inferred from physical interaction Ref.1PubMed 20195357. Source: IntAct

protein binding

Inferred from physical interaction PubMed 20195357. Source: IntAct

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P0W5-1)

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.
Isoform 2 (identifier: Q9P0W5-2)

Also known as: SCHIP-1-D241/253;

The sequence of this isoform differs from the canonical sequence as follows:
     241-253: Missing.
Isoform 3 (identifier: Q9P0W5-3)

Also known as: SCHIP-1-D22/253;

The sequence of this isoform differs from the canonical sequence as follows:
     22-253: Missing.
Isoform 4 (identifier: Q9P0W5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-243: Missing.
     244-253: QGQARTNSTS → MVHQDNCSYQ
Isoform 5 (identifier: Q9P0W5-5)

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.
Isoform 6 (identifier: Q9P0W5-6)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 487487Schwannomin-interacting protein 1
PRO_0000288927

Regions

Coiled coil424 – 45835 Potential
Compositional bias32 – 6736Ser-rich
Compositional bias99 – 1068Poly-Glu
Compositional bias132 – 1365Poly-Gly

Natural variations

Alternative sequence1 – 243243Missing in isoform 4.
VSP_025827
Alternative sequence1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENHQLAMDAENNIEKYP LNLQPLESKVKIIQRAWREY LQRQEPLGKRSPSPPSVSSE KLSSSVSMNTFSDSSTP in isoform 5.
VSP_030598
Alternative sequence1 – 2121MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENIQRAWREYLQRQEPL GKRSPSPPSVSSEKLSSSVS MNTFSDSSTP in isoform 6.
VSP_030599
Alternative sequence22 – 253232Missing in isoform 3.
VSP_025828
Alternative sequence241 – 25313Missing in isoform 2.
VSP_025829
Alternative sequence244 – 25310QGQARTNSTS → MVHQDNCSYQ in isoform 4.
VSP_025830
Natural variant1011E → K.
Corresponds to variant rs3732851 [ dbSNP | Ensembl ].
VAR_051332
Natural variant4811A → V. Ref.5
Corresponds to variant rs17850021 [ dbSNP | Ensembl ].
VAR_032534

Experimental info

Sequence conflict1541Q → R in ABA42889. Ref.2
Sequence conflict1541Q → R in ABA42890. Ref.2
Sequence conflict1781Missing in AAH36535. Ref.5
Sequence conflict4601D → A in ABA42889. Ref.2
Sequence conflict4601D → A in ABA42890. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 86F86EDD64A475BF

FASTA48753,480
        10         20         30         40         50         60 
MERSGQRVTT WDCDQGKHSD SDYREDGMDL GSDAGSSSSS SRASSQSNST KVTPCSECKS 

        70         80         90        100        110        120 
SSSPGGSLDL VSALEDYEEP FPVYQKKVID EWAPEEDGEE EEEEDERDQR GYRDDRSPAR 

       130        140        150        160        170        180 
EPGDVSARTR SGGGGGRSAT TAMPPPVPNG NLHQHDPQDL RHNGNVVVAG RPSCSRGPRR 

       190        200        210        220        230        240 
AIQKPQPAGG RRSGRGPAAG GLCLQPPDGG TCVPEEPPVP PMDWEALEKH LAGLQFREQE 

       250        260        270        280        290        300 
VRNQGQARTN STSAQKNERE SIRQKLALGS FFDDGPGIYT SCSKSGKPSL SSRLQSGMNL 

       310        320        330        340        350        360 
QICFVNDSGS DKDSDADDSK TETSLDTPLS PMSKQSSSYS DRDTTEEESE SLDDMDFLTR 

       370        380        390        400        410        420 
QKKLQAEAKM ALAMAKPMAK MQVEVEKQNR KKSPVADLLP HMPHISECLM KRSLKPTDLR 

       430        440        450        460        470        480 
DMTIGQLQVI VNDLHSQIES LNEELVQLLL IRDELHTEQD AMLVDIEDLT RHAESQQKHM 


AEKMPAK 

« Hide

Isoform 2 (SCHIP-1-D241/253) [UniParc].

Checksum: 5C4EF8E1867A78F9
Show »

FASTA47452,079
Isoform 3 (SCHIP-1-D22/253) [UniParc].

Checksum: 2FCF0C1AE277E4BE
Show »

FASTA25528,691
Isoform 4 [UniParc].

Checksum: C4576A71F9F216B6
Show »

FASTA24427,492
Isoform 5 (IQCJ-SCHIP1 variant 1) [UniParc].

Checksum: 54C0F2D21E4B2739
Show »

FASTA56362,248
Isoform 6 (IQCJ-SCHIP1 variant 2) [UniParc].

Checksum: 6FB3CEF2E518FD02
Show »

FASTA53659,129

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS3186.1. [Q9P0W5-1]
CCDS56292.1. [Q9P0W5-2]
CCDS56293.1. [Q9P0W5-3]
CCDS56294.1. [Q9P0W5-4]
RefSeqNP_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]
UniGeneHs.134665.

3D structure databases

ProteinModelPortalQ9P0W5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119003. 7 interactions.
IntActQ9P0W5. 47 interactions.

PTM databases

PhosphoSiteQ9P0W5.

Polymorphism databases

DMDM74719771.

Proteomic databases

PaxDbQ9P0W5.
PRIDEQ9P0W5.

Protocols and materials databases

DNASU29970.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000445224; ENSP00000404860; ENSG00000151967. [Q9P0W5-4]
GeneID100505385.
29970.
KEGGhsa:100505385.
hsa:29970.
UCSCuc003fcq.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

CTD100505385.
29970.
GeneCardsGC03P158991.
HGNCHGNC:15678. SCHIP1.
HPAHPA003243.
HPA003445.
neXtProtNX_Q9P0W5.
PharmGKBPA34997.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267178.
HOVERGENHBG054427.
InParanoidQ9P0W5.
OMATPCSECK.
OrthoDBEOG70CR7D.
PhylomeDBQ9P0W5.
TreeFamTF323326.

Gene expression databases

BgeeQ9P0W5.
CleanExHS_SCHIP1.
GenevestigatorQ9P0W5.

Family and domain databases

InterProIPR015649. SCHIP_1.
[Graphical view]
PANTHERPTHR13103. PTHR13103. 1 hit.
PfamPF10148. SCHIP-1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio52715.
PROQ9P0W5.

Entry information

Entry nameSCHI1_HUMAN
AccessionPrimary (citable) accession number: Q9P0W5
Secondary accession number(s): B3KRM0 expand/collapse secondary AC list , O75543, Q00P30, Q00P31, Q7Z3Y3, Q8IY83, Q9P0W3, Q9P0W4
Entry history
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 statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM