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PSD (pleckstrin and Sec7 domain containing)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5662
Gene nameGene Name - the full gene name approved by the HGNC.
Pleckstrin and Sec7 domain containing
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PSD
SynonymsGene synonyms aliases
EFA6, EFA6A, PSD1, TYL
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.32
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in m
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT2305435 hsa-miR-214 CLIP-seq
MIRT2305436 hsa-miR-3619-5p CLIP-seq
MIRT2305437 hsa-miR-4291 CLIP-seq
MIRT2305438 hsa-miR-761 CLIP-seq
MIRT2305439 hsa-miR-922 CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 23603394
GO:0005515 Function Protein binding IPI 20339350
GO:0005543 Function Phospholipid binding IEA
GO:0007165 Process Signal transduction NAS 9417912
GO:0031175 Process Neuron projection development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID A5PKW4
Protein name PH and SEC7 domain-containing protein 1 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6) (Exchange factor for ARF6) (Exchange factor for ARF6 A) (Pleckstrin homology and SEC7 domain-containing protein 1)
Protein function Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7
539 708
Sec7 domain
Domain
PF00169 PH
757 869
PH domain
Domain
Sequence
MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGREL
GRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAP
GGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAP
PQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKW
EFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETD
IDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGE
EDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSY
TSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQ
RGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLA
LGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVF
TGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLL
NTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKL
QWAIDEEELRRS
LSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGK
RGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLR
TADWRVFLFQAPSLEQMQSWITRINVVAA
MFSAPPFPAAVSSQKKFSRPLLPSAATRLSQ
EEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLR
VKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSG
RRKP
Sequence length 1024
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Endocytosis  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 16702973

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