LOCUS NP_001028200 822 aa linear PRI 27-MAR-2008
DEFINITION cytoplasmic FMR1 interacting protein 1 isoform b [Homo sapiens].
ACCESSION NP_001028200
VERSION NP_001028200.1 GI:74271907
DBSOURCE REFSEQ: accession NM_001033028.1
KEYWORDS .
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 822)
AUTHORS Bittel,D.C., Kibiryeva,N. and Butler,M.G.
TITLE Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and
behavioral outcomes in Prader-Willi syndrome
JOURNAL Pediatrics 118 (4), E1276-E1283 (2006)
PUBMED 16982806
REMARK GeneRIF: quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5
in Prader-Willi syndrome and correlated levels with psychological
and behavior scales
REFERENCE 2 (residues 1 to 822)
AUTHORS Kawano,Y., Yoshimura,T., Tsuboi,D., Kawabata,S., Kaneko-Kawano,T.,
Shirataki,H., Takenawa,T. and Kaibuchi,K.
TITLE CRMP-2 is involved in kinesin-1-dependent transport of the
Sra-1/WAVE1 complex and axon formation
JOURNAL Mol. Cell. Biol. 25 (22), 9920-9935 (2005)
PUBMED 16260607
REMARK GeneRIF: CRMP-2 transports the Sra-1/WAVE1 complex to axons in a
kinesin-1-dependent manner and thereby regulates axon outgrowth and
formation
REFERENCE 3 (residues 1 to 822)
AUTHORS Innocenti,M., Zucconi,A., Disanza,A., Frittoli,E., Areces,L.B.,
Steffen,A., Stradal,T.E., Di Fiore,P.P., Carlier,M.F. and Scita,G.
TITLE Abi1 is essential for the formation and activation of a WAVE2
signalling complex
JOURNAL Nat. Cell Biol. 6 (4), 319-327 (2004)
PUBMED 15048123
REFERENCE 4 (residues 1 to 822)
AUTHORS Brajenovic,M., Joberty,G., Kuster,B., Bouwmeester,T. and Drewes,G.
TITLE Comprehensive proteomic analysis of human Par protein complexes
reveals an interconnected protein network
JOURNAL J. Biol. Chem. 279 (13), 12804-12811 (2004)
PUBMED 14676191
REFERENCE 5 (residues 1 to 822)
AUTHORS Chai,J.H., Locke,D.P., Greally,J.M., Knoll,J.H., Ohta,T., Dunai,J.,
Yavor,A., Eichler,E.E. and Nicholls,R.D.
TITLE Identification of four highly conserved genes between breakpoint
hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes
deletion region that have undergone evolutionary transposition
mediated by flanking duplicons
JOURNAL Am. J. Hum. Genet. 73 (4), 898-925 (2003)
PUBMED 14508708
REMARK GeneRIF: located in the genomic domain between break points 1 and 2
on chromosome 15, of the Prader-Willi/Angelman syndromes
REFERENCE 6 (residues 1 to 822)
AUTHORS Schenck,A., Bardoni,B., Moro,A., Bagni,C. and Mandel,J.L.
TITLE A highly conserved protein family interacting with the fragile X
mental retardation protein (FMRP) and displaying selective
interactions with FMRP-related proteins FXR1P and FXR2P
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (15), 8844-8849 (2001)
PUBMED 11438699
REFERENCE 7 (residues 1 to 822)
AUTHORS Witke,W., Podtelejnikov,A.V., Di Nardo,A., Sutherland,J.D.,
Gurniak,C.B., Dotti,C. and Mann,M.
TITLE In mouse brain profilin I and profilin II associate with regulators
of the endocytic pathway and actin assembly
JOURNAL EMBO J. 17 (4), 967-976 (1998)
PUBMED 9463375
REFERENCE 8 (residues 1 to 822)
AUTHORS Kobayashi,K., Kuroda,S., Fukata,M., Nakamura,T., Nagase,T.,
Nomura,N., Matsuura,Y., Yoshida-Kubomura,N., Iwamatsu,A. and
Kaibuchi,K.
TITLE p140Sra-1 (specifically Rac1-associated protein) is a novel
specific target for Rac1 small GTPase
JOURNAL J. Biol. Chem. 273 (1), 291-295 (1998)
PUBMED 9417078
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AY763579.1, BC005097.1 and AK024816.1.
FEATURES Location/Qualifiers
source 1..822
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q11"
Protein 1..822
/product="cytoplasmic FMR1 interacting protein 1 isoform
b"
/note="selective hybridizing clone; cytoplasmic FMRP
interacting protein 1"
/calculated_mol_wt=94336
CDS 1..822
/gene="CYFIP1"
/gene_synonym="SHYC"
/gene_synonym="SRA1"
/gene_synonym="FLJ45151"
/gene_synonym="P140SRA-1"
/coded_by="NM_001033028.1:303..2771"
/note="isoform b is encoded by transcript variant 2"
/db_xref="GeneID:23191"
/db_xref="HGNC:13759"
/db_xref="HPRD:05890"
/db_xref="MIM:606322"
ORIGIN
1 maeslgsael lrqlkslgme rllhavntfl rqsctylpll tfggktsfvs ldvygteanc
61 satscsfpka aatwprrqap gplgelvrgp pdqgvaeqsf shglfefgit nvpcifsppq
121 mfpwiiqlym vrtmleslia dksgskktlr sslegptild iekfhresff ythlinfset
181 lqqccdlsql wfrefflelt mgrriqfpie msmpwiltdh iletkeasmm eyvlysldly
241 ndsahyaltr fnkqflydei eaevnlcfdq fvykladqif ayykvmagsl lldkrlrsec
301 knqgatihlp psnryetllk qrhvqllgrs idlnrlitqr vsaamyksle laigrfesed
361 ltsiveldgl leinrmthkl lsryltldgf damfreanhn vsapygritl hvfwelnydf
421 lpnycyngst nrfvrtvlpf sqefqrdkqp naqpqylhgs kalnlayssi ygsyrnfvgp
481 phfqvicrll gyqgiavvme ellkvvksll qgtilqyvkt lmevmpkicr lprheygspg
541 ileffhhqlk diveyaelkt vcfqnlrevg nailfcllie qslsleevcd llhaapfqni
601 lprvhvkege rldakmkrle skyaplhlvp lierlgtpqq iaiaregdll tkerlccgls
661 mfeviltrir sflddpiwrg plpsngvmhv decvefhrlw samqfvycip vgtheftveq
721 cfgdglhwag cmiivllgqq rrfavldfcy hllkvqkhdg kdeiiknvpl kkmverirkf
781 qilndeiiti ldkylksgdg egtpvehvrc fqppihqsla ss
//