1. Gene
  2. PSD - pleckstrin and Sec7 domain containing Gene

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

PSD Protein Structure

Sec7

Sec7: Sec7 domain (549 - 707)

PH_9

PH_9: Pleckstrin homology domain (758 - 869)

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  • 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

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