LOCUS NP_001028200 822 aa linear PRI 30-DEC-2022
DEFINITION cytoplasmic FMR1-interacting protein 1 isoform b [Homo sapiens].
ACCESSION NP_001028200
VERSION NP_001028200.1
DBSOURCE REFSEQ: accession NM_001033028.3
KEYWORDS RefSeq.
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 Biembengut IV, Silva ILZ, Souza TACB and Shigunov P.
TITLE Cytoplasmic FMR1 interacting protein (CYFIP) family members and
their function in neural development and disorders
JOURNAL Mol Biol Rep 48 (8), 6131-6143 (2021)
PUBMED 34327661
REMARK GeneRIF: Cytoplasmic FMR1 interacting protein (CYFIP) family
members and their function in neural development and disorders.
Review article
REFERENCE 2 (residues 1 to 822)
AUTHORS Haan N, Westacott LJ, Carter J, Owen MJ, Gray WP, Hall J and
Wilkinson LS.
TITLE Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1
causes abnormal postnatal hippocampal neurogenesis through
microglial and Arp2/3 mediated actin dependent mechanisms
JOURNAL Transl Psychiatry 11 (1), 313 (2021)
PUBMED 34031371
REMARK GeneRIF: Haploinsufficiency of the schizophrenia and autism risk
gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis
through microglial and Arp2/3 mediated actin dependent mechanisms.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 822)
AUTHORS Sledziowska M, Galloway J and Baudouin SJ.
TITLE Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the
Pathophysiology of Autism Spectrum Disorders
JOURNAL Neuroscience 445, 31-41 (2020)
PUBMED 31705895
REMARK GeneRIF: Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1
Pathway in the Pathophysiology of Autism Spectrum Disorders.
Review article
REFERENCE 4 (residues 1 to 822)
AUTHORS Haenig C, Atias N, Taylor AK, Mazza A, Schaefer MH, Russ J,
Riechers SP, Jain S, Coughlin M, Fontaine JF, Freibaum BD,
Brusendorf L, Zenkner M, Porras P, Stroedicke M, Schnoegl S,
Arnsburg K, Boeddrich A, Pigazzini L, Heutink P, Taylor JP,
Kirstein J, Andrade-Navarro MA, Sharan R and Wanker EE.
TITLE Interactome Mapping Provides a Network of Neurodegenerative Disease
Proteins and Uncovers Widespread Protein Aggregation in Affected
Brains
JOURNAL Cell Rep 32 (7), 108050 (2020)
PUBMED 32814053
REFERENCE 5 (residues 1 to 822)
AUTHORS Woo YJ, Kanellopoulos AK, Hemati P, Kirschen J, Nebel RA, Wang T,
Bagni C and Abrahams BS.
TITLE Domain-Specific Cognitive Impairments in Humans and Flies With
Reduced CYFIP1 Dosage
JOURNAL Biol Psychiatry 86 (4), 306-314 (2019)
PUBMED 31202490
REMARK GeneRIF: The human studies revealed profound deficits in
grammatical reasoning, arithmetic reasoning, and working memory in
BP1-BP2 (TUBGCP5, CYFIP1, NIPA2, and NIPA1) deletion carriers.
REFERENCE 6 (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 7 (residues 1 to 822)
AUTHORS Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A,
Eichler EE and Nicholls RD.
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 8 (residues 1 to 822)
AUTHORS Schenck A, Bardoni B, Moro A, Bagni C and Mandel JL.
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 9 (residues 1 to 822)
AUTHORS Witke W, Podtelejnikov AV, Di Nardo A, Sutherland JD, Gurniak CB,
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 10 (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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AY763579.1, BC005097.1,
AK024816.1, AC011767.12 and CB250660.1.
Summary: This gene encodes a protein that regulates cytoskeletal
dynamics and protein translation. The encoded protein is a
component of the WAVE regulatory complex (WRC), which promotes
actin polymerization. This protein also interacts with the synaptic
functional regulator FMR1 protein and translation initiation factor
4E to inhibit protein translation. A large chromosomal deletion
including this gene is associated with increased risk of
schizophrenia and epilepsy in human patients. Reduced expression of
this gene has been observed in various human cancers and the
encoded protein may inhibit tumor invasion. [provided by RefSeq,
Mar 2022].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AY763579.1, AK127094.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..822
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q11.2"
Protein 1..822
/product="cytoplasmic FMR1-interacting protein 1 isoform
b"
/note="cytoplasmic FMRP interacting protein 1;
specifically Rac1-associated protein 1; selective
hybridizing clone"
/calculated_mol_wt=94336
Region 123..791
/region_name="FragX_IP"
/note="Cytoplasmic Fragile-X interacting family;
pfam05994"
/db_xref="CDD:428712"
CDS 1..822
/gene="CYFIP1"
/gene_synonym="P140SRA-1; SHYC; SRA-1; SRA1"
/coded_by="NM_001033028.3:303..2771"
/note="isoform b is encoded by transcript variant 10"
/db_xref="CCDS:CCDS73695.1"
/db_xref="GeneID:23191"
/db_xref="HGNC:HGNC:13759"
/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
//
