Q9P0W5 (SCHI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Schwannomin-interacting protein 1
Short name=SCHIP-1

Gene names

Name:

SCHIP1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	487 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		2	EBI-1397509,EBI-1397509
PSMD4	P55036	2	EBI-1397509,EBI-359318
SCOC	Q9UIL1	4	EBI-1397509,EBI-2686537
ZC3H13	Q5T200	2	EBI-1397509,EBI-2679720

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 487	487	Schwannomin-interacting protein 1		PRO_0000288927
Regions
	Coiled coil	424 – 458	35	Potential
	Compositional bias	32 – 67	36	Ser-rich
	Compositional bias	99 – 106	8	Poly-Glu
	Compositional bias	132 – 136	5	Poly-Gly
Natural variations
	Alternative sequence	1 – 243	243	Missing in isoform 4.		VSP_025827
	Alternative sequence	1 – 21	21	MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENHQLAMDAENNIEKYP LNLQPLESKVKIIQRAWREY LQRQEPLGKRSPSPPSVSSE KLSSSVSMNTFSDSSTP in isoform 5.		VSP_030598
	Alternative sequence	1 – 21	21	MERSG…KHSDS → MRLEELKRLQNPLEQVNDGK YSFENIQRAWREYLQRQEPL GKRSPSPPSVSSEKLSSSVS MNTFSDSSTP in isoform 6.		VSP_030599
	Alternative sequence	22 – 253	232	Missing in isoform 3.		VSP_025828
	Alternative sequence	241 – 253	13	Missing in isoform 2.		VSP_025829
	Alternative sequence	244 – 253	10	QGQARTNSTS → MVHQDNCSYQ in isoform 4.		VSP_025830
	Natural variant	101	1	E → K. Corresponds to variant rs3732851 [ dbSNP | Ensembl ].		VAR_051332
	Natural variant	481	1	A → V. Ref.5 Corresponds to variant rs17850021 [ dbSNP | Ensembl ].		VAR_032534
Experimental info
	Sequence conflict	154	1	Q → R in ABA42889. Ref.2
	Sequence conflict	154	1	Q → R in ABA42890. Ref.2
	Sequence conflict	178	1	Missing in AAH36535. Ref.5
	Sequence conflict	460	1	D → A in ABA42889. Ref.2
	Sequence conflict	460	1	D → A in ABA42890. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 86F86EDD64A475BF	FASTA	487	53,480
	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
	Isoform 2 (SCHIP-1-D241/253) [UniParc]. Checksum: 5C4EF8E1867A78F9	FASTA	474	52,079
	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 AQKNERESIR QKLALGSFFD DGPGIYTSCS KSGKPSLSSR LQSGMNLQIC FVNDSGSDKD 310 320 330 340 350 360 SDADDSKTET SLDTPLSPMS KQSSSYSDRD TTEEESESLD DMDFLTRQKK LQAEAKMALA 370 380 390 400 410 420 MAKPMAKMQV EVEKQNRKKS PVADLLPHMP HISECLMKRS LKPTDLRDMT IGQLQVIVND 430 440 450 460 470 LHSQIESLNE ELVQLLLIRD ELHTEQDAML VDIEDLTRHA ESQQKHMAEK MPAK
	Isoform 3 (SCHIP-1-D22/253) [UniParc]. Checksum: 2FCF0C1AE277E4BE	FASTA	255	28,691
	10 20 30 40 50 60 MERSGQRVTT WDCDQGKHSD SAQKNERESI RQKLALGSFF DDGPGIYTSC SKSGKPSLSS 70 80 90 100 110 120 RLQSGMNLQI CFVNDSGSDK DSDADDSKTE TSLDTPLSPM SKQSSSYSDR DTTEEESESL 130 140 150 160 170 180 DDMDFLTRQK KLQAEAKMAL AMAKPMAKMQ VEVEKQNRKK SPVADLLPHM PHISECLMKR 190 200 210 220 230 240 SLKPTDLRDM TIGQLQVIVN DLHSQIESLN EELVQLLLIR DELHTEQDAM LVDIEDLTRH 250 AESQQKHMAE KMPAK
	Isoform 4 [UniParc]. Checksum: C4576A71F9F216B6	FASTA	244	27,492
	10 20 30 40 50 60 MVHQDNCSYQ AQKNERESIR QKLALGSFFD DGPGIYTSCS KSGKPSLSSR LQSGMNLQIC 70 80 90 100 110 120 FVNDSGSDKD SDADDSKTET SLDTPLSPMS KQSSSYSDRD TTEEESESLD DMDFLTRQKK 130 140 150 160 170 180 LQAEAKMALA MAKPMAKMQV EVEKQNRKKS PVADLLPHMP HISECLMKRS LKPTDLRDMT 190 200 210 220 230 240 IGQLQVIVND LHSQIESLNE ELVQLLLIRD ELHTEQDAML VDIEDLTRHA ESQQKHMAEK MPAK
	Isoform 5 (IQCJ-SCHIP1 variant 1) [UniParc]. Checksum: 54C0F2D21E4B2739	FASTA	563	62,248
	10 20 30 40 50 60 MRLEELKRLQ NPLEQVNDGK YSFENHQLAM DAENNIEKYP LNLQPLESKV KIIQRAWREY 70 80 90 100 110 120 LQRQEPLGKR SPSPPSVSSE KLSSSVSMNT FSDSSTPDYR EDGMDLGSDA GSSSSSSRAS 130 140 150 160 170 180 SQSNSTKVTP CSECKSSSSP GGSLDLVSAL EDYEEPFPVY QKKVIDEWAP EEDGEEEEEE 190 200 210 220 230 240 DERDQRGYRD DRSPAREPGD VSARTRSGGG GGRSATTAMP PPVPNGNLHQ HDPQDLRHNG 250 260 270 280 290 300 NVVVAGRPSC SRGPRRAIQK PQPAGGRRSG RGPAAGGLCL QPPDGGTCVP EEPPVPPMDW 310 320 330 340 350 360 EALEKHLAGL QFREQEVRNQ GQARTNSTSA QKNERESIRQ KLALGSFFDD GPGIYTSCSK 370 380 390 400 410 420 SGKPSLSSRL QSGMNLQICF VNDSGSDKDS DADDSKTETS LDTPLSPMSK QSSSYSDRDT 430 440 450 460 470 480 TEEESESLDD MDFLTRQKKL QAEAKMALAM AKPMAKMQVE VEKQNRKKSP VADLLPHMPH 490 500 510 520 530 540 ISECLMKRSL KPTDLRDMTI GQLQVIVNDL HSQIESLNEE LVQLLLIRDE LHTEQDAMLV 550 560 DIEDLTRHAE SQQKHMAEKM PAK
	Isoform 6 (IQCJ-SCHIP1 variant 2) [UniParc]. Checksum: 6FB3CEF2E518FD02	FASTA	536	59,129
	10 20 30 40 50 60 MRLEELKRLQ NPLEQVNDGK YSFENIQRAW REYLQRQEPL GKRSPSPPSV SSEKLSSSVS 70 80 90 100 110 120 MNTFSDSSTP DYREDGMDLG SDAGSSSSSS RASSQSNSTK VTPCSECKSS SSPGGSLDLV 130 140 150 160 170 180 SALEDYEEPF PVYQKKVIDE WAPEEDGEEE EEEDERDQRG YRDDRSPARE PGDVSARTRS 190 200 210 220 230 240 GGGGGRSATT AMPPPVPNGN LHQHDPQDLR HNGNVVVAGR PSCSRGPRRA IQKPQPAGGR 250 260 270 280 290 300 RSGRGPAAGG LCLQPPDGGT CVPEEPPVPP MDWEALEKHL AGLQFREQEV RNQGQARTNS 310 320 330 340 350 360 TSAQKNERES IRQKLALGSF FDDGPGIYTS CSKSGKPSLS SRLQSGMNLQ ICFVNDSGSD 370 380 390 400 410 420 KDSDADDSKT ETSLDTPLSP MSKQSSSYSD RDTTEEESES LDDMDFLTRQ KKLQAEAKMA 430 440 450 460 470 480 LAMAKPMAKM QVEVEKQNRK KSPVADLLPH MPHISECLMK RSLKPTDLRD MTIGQLQVIV 490 500 510 520 530 NDLHSQIESL NEELVQLLLI RDELHTEQDA MLVDIEDLTR HAESQQKHMA EKMPAK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00382587. IPI00418250. IPI00791614. IPI00791665. IPI00794207. IPI00877759.
RefSeq	NP_001184036.1. NM_001197107.1. NP_001184037.1. NM_001197108.1. NP_001184038.1. NM_001197109.1. NP_001184043.1. NM_001197114.1. NP_055390.1. NM_014575.3.
UniGene	Hs.134665.
3D structure databases
ProteinModelPortal	Q9P0W5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9P0W5. 47 interactions.
PTM databases
PhosphoSite	Q9P0W5.
Polymorphism databases
DMDM	74719771.
Proteomic databases
PaxDb	Q9P0W5.
PRIDE	Q9P0W5.
Protocols and materials databases
DNASU	29970.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000445224; ENSP00000404860; ENSG00000151967.
GeneID	100505385. 29970.
KEGG	hsa:100505385. hsa:29970.
UCSC	uc003fcq.2. human. uc003fcr.2. human. uc003fcs.2. human. uc003fct.2. human. uc003fcu.2. human. uc021xgm.1. human.
Organism-specific databases
CTD	100505385. 29970.
GeneCards	GC03P158681. GC03P158991.
HGNC	HGNC:15678. SCHIP1.
HPA	HPA003243. HPA003445.
neXtProt	NX_Q9P0W5.
PharmGKB	PA34997.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267178.
HOVERGEN	HBG054427.
InParanoid	Q9P0W5.
OMA	PRRAIQK.
OrthoDB	EOG41JZCM.
PhylomeDB	Q9P0W5.
Gene expression databases
ArrayExpress	Q9P0W5.
Bgee	Q9P0W5.
CleanEx	HS_SCHIP1.
Genevestigator	Q9P0W5.
Family and domain databases
InterPro	IPR015649. SCHIP_1. [Graphical view]
PANTHER	PTHR13103. PTHR13103. 1 hit.
Pfam	PF10148. SCHIP-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	52715.

Entry information

Entry name

SCHI1_HUMAN

Accession

Primary (citable) accession number: Q9P0W5
Secondary accession number(s): B3KRM0 , 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:	May 1, 2013
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.