Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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22822
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Pleckstrin homology like domain family A member 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PHLDA1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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DT1P1B11, PHRIP, TDAG51 |
Chromosome
Chromosome number
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12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12q21.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008] |
UniProt ID |
Q8WV24
|
Protein name |
Pleckstrin homology-like domain family A member 1 (Apoptosis-associated nuclear protein) (Proline- and glutamine-rich protein) (PQ-rich protein) (PQR protein) (Proline- and histidine-rich protein) (T-cell death-associated gene 51 protein) |
Protein function |
Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in |
Family and domains |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed with highest levels in pancreas. Strongly expressed by benign melanocytic nevi, and progressively reduced expressed in primary and metastatic melanomas (at protein level). {ECO:0000269|PubMed:12384558, ECO:0000269|PubM |
Sequence |
MRRAPAAERLLELGFPPRCGRQEPPFPLGVTRGWGRWPIQKRREGARPVPFSERSQEDGR GPAARSSGTLWRIRTRLSLCRDPEPPPPLCLLRVSLLCALRAGGRGSRWGEDGARLLLLP PARAAGNGEAEPSGGPSYAGRMLESSGCKALKEGVLEKRSDGLLQLWKKKCCILTEEGLL LIPPKQLQHQQQQQQQQQQQQQQQPGQGPAEPSQPSGPAVASLEPPVKLKELHFSNMKTV DCVERKGKYMYFTVVMAEGKEIDFRCPQDQGWNAEITLQMVQYKNRQAILAVKSTRQKQQ HLVQQQPPSQPQPQPQLQPQPQPQPQPQPQPQSQPQPQPQPKPQPQQLHPYPHPHPHPHS HPHSHPHPHPHPHPHQIPHPHPQPHSQPHGHRLLRSTSNSA
|
|
Sequence length |
401 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
30061737 |
Dermatitis |
Dermatitis, Allergic Contact |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
17374397 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
30061737 |
ClinVar |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Arthritis Juvenile |
Associate
|
39699225 |
Atrial Fibrillation |
Associate
|
33834070 |
Breast Neoplasms |
Inhibit
|
18597688, 18641796, 25238247 |
Breast Neoplasms |
Stimulate
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24954507 |
Breast Neoplasms |
Associate
|
28640659, 29490281, 37047202 |
Carcinogenesis |
Associate
|
24954507 |
Carcinoma Hepatocellular |
Associate
|
37749575 |
Carcinoma Squamous Cell |
Associate
|
22427941 |
Cardiomyopathy Dilated |
Associate
|
33860048 |
Chronic Disease |
Associate
|
35218958 |
Colorectal Neoplasms |
Associate
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30719834, 33898197, 33982211 |
Endometrial Neoplasms |
Associate
|
29490281 |
Heart Failure |
Associate
|
35942730 |
Inflammation |
Stimulate
|
24954507 |
Inflammation |
Associate
|
39256536 |
Intestinal Neoplasms |
Stimulate
|
28640659 |
Lymphatic Metastasis |
Inhibit
|
26191222 |
Melanoma |
Associate
|
18597688 |
Melanoma |
Inhibit
|
28640659 |
Microcystic adnexal carcinoma |
Associate
|
23398472 |
Neoplasm Metastasis |
Associate
|
34434692 |
Neoplasms |
Inhibit
|
18597688, 22427941, 26191222 |
Neoplasms |
Associate
|
18769122, 28640659, 29490281, 33898197, 35831322, 37047202, 9403053 |
Non alcoholic Fatty Liver Disease |
Associate
|
39256536 |
Ovarian Neoplasms |
Associate
|
36362153 |
Polycystic Ovary Syndrome |
Associate
|
28068351 |
Pulmonary Disease Chronic Obstructive |
Associate
|
34764646 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
38011007 |
Stomach Neoplasms |
Inhibit
|
26191222 |
Teratoma |
Associate
|
36289533 |
Trichoepitheliomas Multiple Desmoplastic |
Associate
|
23398472 |
Uveal melanoma |
Associate
|
34434692 |
|