LLPH LLP homolog, long-term synaptic facilitation factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: LLPHprovided by HGNC
Official Full Name: LLP homolog, long-term synaptic facilitation factorprovided by HGNC
Primary source: HGNC:HGNC:28229
See related: Ensembl:ENSG00000139233 MIM:616998; AllianceGenome:HGNC:28229
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: hLLP; C12orf31
Summary: Enables RNA binding activity. Predicted to be involved in dendrite extension and positive regulation of dendritic spine development. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 19.2), bone marrow (RPKM 19.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (66116555..66130750, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (66096061..66110256, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (66510335..66524530, complement)

Chromosome 12 - NC_000012.12 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?

Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.
Title: Differential levels of CHMP2B, LLPH, and SLC25A51 proteins in secondary renal amyloidosis.

Submit: New GeneRIF Correction

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

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

D8S2279 (e-PCR)
- UniSTS:473907

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables basal RNA polymerase II transcription machinery binding	IBA Inferred from Biological aspect of Ancestor more info
enables basal RNA polymerase II transcription machinery binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dendrite extension	IBA Inferred from Biological aspect of Ancestor more info
involved_in dendrite extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of dendritic spine development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: protein LLP homolog

Names: LLP homolog, long-term synaptic facilitation (Aplysia); human LAPS18-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.