GOLPH3L golgi phosphoprotein 3 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOLPH3Lprovided by HGNC
Official Full Name: golgi phosphoprotein 3 likeprovided by HGNC
Primary source: HGNC:HGNC:24882
See related: Ensembl:ENSG00000143457 MIM:612208; AllianceGenome:HGNC:24882
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GPP34R
Summary: The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 16.0), thyroid (RPKM 15.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (150646230..150697154, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149770312..149822032, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (150618706..150669630, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles.
Title: GOLPH3 and GOLPH3L are broad-spectrum COPI adaptors for sorting into intra-Golgi transport vesicles.
The miR-1185-2-3p-GOLPH3L pathway promotes glucose metabolism in breast cancer by stabilizing p53-induced SERPINE1.
Title: The miR-1185-2-3p-GOLPH3L pathway promotes glucose metabolism in breast cancer by stabilizing p53-induced SERPINE1.
GOLPH3L was markedly upregulated in ovarian cancer cells and clinical ovarian cancer samples, and a positive correlation was evident between GOLPH3L expression and the recurrence-free survival of ovarian cancer patients.
Title: The oncogenic Golgi phosphoprotein 3 like overexpression is associated with cisplatin resistance in ovarian carcinoma and activating the NF-κB signaling pathway.
GOLPH3L differs critically from GOLPH3 in that it is largely unable to bind to MYO18A; data demonstrate that despite their similarities, unexpectedly, GOLPH3L antagonizes GOLPH3/MYO18A at the Golgi
Title: GOLPH3L antagonizes GOLPH3 to determine Golgi morphology.
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.

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

EBI GWAS Catalog

Description
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cargo adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi vesicle budding	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting to Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi cisterna	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IC Inferred by Curator more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network membrane	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: Golgi phosphoprotein 3-like

Names: GPP34-related 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.

mRNA and Protein(s)

NM_018178.6 → NP_060648.2 Golgi phosphoprotein 3-like

See identical proteins and their annotated locations for NP_060648.2

Status: REVIEWED

Source sequence(s)

AL356292, AL356356

Consensus CDS

CCDS966.1

UniProtKB/Swiss-Prot

B1AN09, B7Z6N3, Q9H4A5, Q9NVK0

UniProtKB/TrEMBL

Q5T5I6

Related

ENSP00000271732.3, ENST00000271732.8

Conserved Domains (1) summary

pfam05719
Location:48 → 268

GPP34; Golgi phosphoprotein 3 (GPP34)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

150646230..150697154 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424285.1 → XP_047280241.1 Golgi phosphoprotein 3-like isoform X2
XM_006711428.3 → XP_006711491.1 Golgi phosphoprotein 3-like isoform X1

UniProtKB/TrEMBL

Q5T5I6

Conserved Domains (1) summary

pfam05719
Location:62 → 273

GPP34; Golgi phosphoprotein 3 (GPP34)
XM_047424286.1 → XP_047280242.1 Golgi phosphoprotein 3-like isoform X3