Human Gene PSD (ENST00000020673.6_9) from GENCODE V45lift37
| Description: hom*o sapiens pleckstrin and Sec7 domain containing (PSD), transcript variant 1, mRNA. (from RefSeq NM_002779) RefSeq Summary (NM_002779): This gene encodes a Plekstrin hom*ology 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]. Gencode Transcript: ENST00000020673.6_9 Gencode Gene: ENSG00000059915.17_12 Transcript (Including UTRs) Position:hg19 chr10:104,162,376-104,178,542Size:16,167Total Exon Count:17Strand:- Coding Region Position:hg19 chr10:104,162,957-104,176,795Size:13,839Coding Exon Count:16
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
| ID: PSD1_HUMAN DESCRIPTION: RecName: Full=PH and SEC7 domain-containing protein 1; AltName: Full=Exchange factor for ARF6; AltName: Full=Pleckstrin hom*ology and SEC7 domain-containing protein 1; FUNCTION: Guanine nucleotide exchange factor for ARF6. Induces cytoskeletal remodeling (By similarity). SUBUNIT: Interacts with ACTN1 (By similarity). SUBCELLULAR LOCATION: Cell membrane (By similarity). Cell projection, ruffle (By similarity). TISSUE SPECIFICITY: Isoform 2 is expressed in the brain. SIMILARITY: Belongs to the PSD family. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 SEC7 domain. SEQUENCE CAUTION: Sequence=BAC23107.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; |
Primer design for this transcript
See Also
Human Gene GBF1 (ENST00000677618.1_2) from GENCODE V45lift37Human Gene H1-10 (ENST00000333762.6_5) from GENCODE V45lift37Human Gene YWHAQ (ENST00000238081.8_6) from GENCODE V45lift37Human Gene NOLC1 (ENST00000488254.6_6) from GENCODE V45lift37Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA. Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence. To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3 |
MalaCards Disease Associations
| MalaCards Gene Search: PSD Diseases sorted by gene-association score: branch retinal artery occlusion (2) |
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
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Common Gene Haplotype Alleles RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
| Highest median expression: 154.62 RPKM in Brain - Nucleus accumbens (basal ganglia) Total median expression: 1319.47 RPKM
View in GTEx track of Genome BrowserView at GTEx portalView GTEx Body Map |
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have. | |||||||||||||||||||||||
Protein Domain and Structure Information
| InterPro Domains: Graphical view of domain structure IPR001605 - PH_dom-spectrin-type IPR011993 - PH_like_dom IPR001849 - Pleckstrin_hom*ology IPR000904 - Sec7 IPR023394 - SEC7_alpha_orthog Pfam Domains: SCOP Domains: ModBase Predicted Comparative 3D Structure on A5PKW4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Gene Ontology (GO) Annotations with Structured Vocabulary
| Molecular Function: GO:0004871 signal transducer activity GO:0005085 guanyl-nucleotide exchange factor activity GO:0005086 ARF guanyl-nucleotide exchange factor activity GO:0005515 protein binding GO:0005543 phospholipid binding Biological Process: Cellular Component: |
Descriptions from all associated GenBank mRNAs
| X99688 - H.sapiens mRNA from TYL gene. LF211355 - JP 2014500723-A/18858: Polycomb-Associated Non-Coding RNAs. BC037332 - hom*o sapiens cDNA clone IMAGE:5264357, containing frame-shift errors. AB095931 - hom*o sapiens mRNA for KIAA2011 protein. BC039259 - hom*o sapiens pleckstrin and Sec7 domain containing, mRNA (cDNA clone IMAGE:5312040), partial cds. BC142643 - hom*o sapiens pleckstrin and Sec7 domain containing, mRNA (cDNA clone MGC:164849 IMAGE:40147927), complete cds. BC142689 - hom*o sapiens pleckstrin and Sec7 domain containing, mRNA (cDNA clone MGC:165002 IMAGE:40148656), complete cds. JD395994 - Sequence 377018 from Patent EP1572962. JD216930 - Sequence 197954 from Patent EP1572962. JD251594 - Sequence 232618 from Patent EP1572962. JD222580 - Sequence 203604 from Patent EP1572962. LF345862 - JP 2014500723-A/153365: Polycomb-Associated Non-Coding RNAs. JD432080 - Sequence 413104 from Patent EP1572962. JD111141 - Sequence 92165 from Patent EP1572962. JD209143 - Sequence 190167 from Patent EP1572962. JD530436 - Sequence 511460 from Patent EP1572962. JD322381 - Sequence 303405 from Patent EP1572962. JD466393 - Sequence 447417 from Patent EP1572962. JD498664 - Sequence 479688 from Patent EP1572962. JD393129 - Sequence 374153 from Patent EP1572962. AB463176 - Synthetic construct DNA, clone: pF1KA2011, hom*o sapiens PSD gene for pleckstrin and Sec7 domain containing, without stop codon, in Flexi system. CU691700 - Synthetic construct hom*o sapiens gateway clone IMAGE:100022706 5' read PSD mRNA. LF345870 - JP 2014500723-A/153373: Polycomb-Associated Non-Coding RNAs. JD256368 - Sequence 237392 from Patent EP1572962. JD406449 - Sequence 387473 from Patent EP1572962. JD389548 - Sequence 370572 from Patent EP1572962. AF452641 - hom*o sapiens tissue-type brain hypothetical protein mRNA, complete cds. JD387560 - Sequence 368584 from Patent EP1572962. JD383657 - Sequence 364681 from Patent EP1572962. JD387559 - Sequence 368583 from Patent EP1572962. JD054431 - Sequence 35455 from Patent EP1572962. JD395934 - Sequence 376958 from Patent EP1572962. JD413173 - Sequence 394197 from Patent EP1572962. LF212797 - JP 2014500723-A/20300: Polycomb-Associated Non-Coding RNAs. JD150646 - Sequence 131670 from Patent EP1572962. JD525871 - Sequence 506895 from Patent EP1572962. MA581439 - JP 2018138019-A/153365: Polycomb-Associated Non-Coding RNAs. MA581447 - JP 2018138019-A/153373: Polycomb-Associated Non-Coding RNAs. MA446932 - JP 2018138019-A/18858: Polycomb-Associated Non-Coding RNAs. MA448374 - JP 2018138019-A/20300: Polycomb-Associated Non-Coding RNAs. |
| Alternate Gene Symbols: A5PKW4, B1AKX7, D3DR87, EFA6, ENST00000020673.1, ENST00000020673.2, ENST00000020673.3, ENST00000020673.4, ENST00000020673.5, KIAA2011, NM_002779, PSD1, PSD1_HUMAN, Q15673, Q8IVG0, TYL, uc317byh.1 UCSC ID: ENST00000020673.6_9 RefSeq Accession: NM_002779 Protein: A5PKW4 (aka PSD1_HUMAN) |
