PSD - pleckstrin and Sec7 domain containing Gene

Homo sapiens

Also known as TYL; EFA6; PSD1; EFA6A

Gene ID: 5662 | Gene type: protein coding

About PSD

Cytogenetic location: 10q24.32 Genomic coordinates (GRCh38): 10:102,402,619-102,419,946 (from NCBI)

This gene has 9 transcripts (splice variants), 297 orthologues and 15 paralogues. Biased expression in brain (RPKM 23.5), endometrium (RPKM 9.6) and 8 other tissues.

Summary

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 multiple transcript variants. [provided by RefSeq, Aug 2012]

PSD Products(3)

mRNA	Protein	Name
NM_001270965.2	NP_001257894.1	PH and SEC7 domain-containing protein 1 isoform 1
NM_001270966.2	NP_001257895.1	PH and SEC7 domain-containing protein 1 isoform 2
NM_002779.5	NP_002770.3	PH and SEC7 domain-containing protein 1 isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	23603394	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20339350	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cleavage furrow	IDA IDA: Inferred from direct assay	23603394	GOA
located in ruffle membrane	IDA IDA: Inferred from direct assay	23603394	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSD Protein Structure

Sec7

PH_9

0
200
400
600
800
1024 a.a.

Protein Preferred Names

Protein Names

PH and SEC7 domain-containing protein 1

exchange factor for ADP-ribosylation factor guanine nucleotide factor 6

Related Diseases

Diseases

Alias

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P0117	Tat-NR2B9c	Inhibitor	99.97%	Phase 3

Pre-clinical Phase

Bioactive Molecules (19)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100456	ZL006	Inhibitor	99.23%	Unkown
HY-P0117A	Tat-NR2B9c TFA	Inhibitor	99.67%	Unkown
HY-117772	FSC231		99.84%	Unkown
HY-W009118	Fmoc-5-Ava-OH		99.49%	Unkown
HY-100457	IC87201	Inhibitor	97.00%	Unkown
HY-146885S	16:0-18:1 PS-d31 sodium		≥99.0%	Unkown
HY-P2307	Tat-NR2Baa		96.89%	Unkown
HY-P1195	PDZ1 Domain inhibitor peptide		99.04%	Unkown
HY-143675S	1-Palmitoyl-2-palmitoyl-sn-glycero-3-PS-d9		/	Unkown
HY-145539S	12-Dipalmitoyl-sn-glycero-3-PS-d62 sodium salt		/	Unkown
HY-155355	LY836	Inhibitor	/	Unkown
HY-P10212	AVLX-125	Inhibitor	/	Unkown
HY-P1195A	PDZ1 Domain inhibitor peptide TFA		/	Unkown
HY-P2307A	Tat-NR2Baa TFA		/	Unkown
HY-RS11272	PSD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS11273	PSD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS11274	PSD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS11275	PSD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-P10401	TAT-GluR6-9c	Antagonist	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PSD	VGNC	VGNC:45082
Rattus norvegicus	PSD	RGD	RGD:620297
Mus musculus	PSD	MGD	MGI:1920978
Felis catus	PSD	VGNC	VGNC:69099
Bos taurus	PSD	VGNC	VGNC:107303
Others	PSD	NCBI

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