PALMD palmdelphin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PALMDprovided by HGNC
Official Full Name: palmdelphinprovided by HGNC
Primary source: HGNC:HGNC:15846
See related: Ensembl:ENSG00000099260 MIM:610182; AllianceGenome:HGNC:15846
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PALML; C1orf11
Summary: Predicted to be involved in regulation of cell shape. Predicted to be located in dendritic spine and membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in fat (RPKM 87.9), heart (RPKM 29.7) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (99646113..99694535)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (99494334..99542672)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (100111669..100160091)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical importance and PI3K/Akt pathway-dependent anti-proliferative role of PALMD and DPT in breast cancer.
Title: Clinical importance and PI3K/Akt pathway-dependent anti-proliferative role of PALMD and DPT in breast cancer.
PALMD regulates aortic valve calcification via altered glycolysis and NF-kappaB-mediated inflammation.
Title: PALMD regulates aortic valve calcification via altered glycolysis and NF-κB-mediated inflammation.
Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
Title: Palmdelphin Regulates Nuclear Resilience to Mechanical Stress in the Endothelium.
Phenome-wide analyses establish a specific association between aortic valve PALMD expression and calcific aortic valve stenosis.
Title: Phenome-wide analyses establish a specific association between aortic valve PALMD expression and calcific aortic valve stenosis.
A transcriptome-wide association study (TWAS) reveals PALMD (palmdelphin) as significantly associated with CAVS. The CAVS risk alleles and increasing disease severity are both associated with decreased mRNA expression levels of PALMD in valve tissues.
Title: A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis.
findings define palmdelphin as a target of serine-46-phosphorylated p53 that controls cell death in response to DNA damage.
Title: Palmdelphin, a novel target of p53 with Ser46 phosphorylation, controls cell death in response to DNA damage.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2012E (e-PCR)
- UniSTS:151359

WI-11664 (e-PCR)
- UniSTS:62556

RH123400 (e-PCR)
- UniSTS:135775

SHGC-75219 (e-PCR)
- UniSTS:56991

SHGC-75221 (e-PCR)
- UniSTS:43193

SHGC-75211 (e-PCR)
- UniSTS:48834

RH80110 (e-PCR)
- UniSTS:86262

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: palmdelphin

Names: paralemmin-like protein; paralemnin-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.