GOLIM4 golgi integral membrane protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOLIM4provided by HGNC
Official Full Name: golgi integral membrane protein 4provided by HGNC
Primary source: HGNC:HGNC:15448
See related: Ensembl:ENSG00000173905 MIM:606805; AllianceGenome:HGNC:15448
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: P138; GIMPC; GOLPH4; GPP130
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 a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in small intestine (RPKM 37.0), colon (RPKM 33.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (168008689..168095924, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (170792566..170879811, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (167726477..167813712, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

CircRNA RNF10 inhibits tumorigenicity by targeting miR-942-5p/GOLIM4 axis in breast cancer.
Title: CircRNA RNF10 inhibits tumorigenicity by targeting miR-942-5p/GOLIM4 axis in breast cancer.
RBFOX2/GOLIM4 Splicing Axis Activates Vesicular Transport Pathway to Promote Nasopharyngeal Carcinogenesis.
Title: RBFOX2/GOLIM4 Splicing Axis Activates Vesicular Transport Pathway to Promote Nasopharyngeal Carcinogenesis.
MiR-105-3p acts as an oncogene to promote the proliferation and metastasis of breast cancer cells by targeting GOLIM4.
Title: MiR-105-3p acts as an oncogene to promote the proliferation and metastasis of breast cancer cells by targeting GOLIM4.
This study found that GOLIM4, as the target gene downstream of STIM1, inhibited the proliferation of head and neck cancer, promoted apoptosis, and regulated cell cycle progression, and GOLIM4 is a novel oncogene in head and neck cancer and might help in developing promising targetted therapies for head and neck cancer patients.
Title: Golgi integral membrane protein 4 manipulates cellular proliferation, apoptosis, and cell cycle in human head and neck cancer.
Authors provide evidence that Mn-induced exit of GPP130 from the trans-Golgi network (TGN) toward lysosomes is mediated by the sorting receptor sortilin interacting with the lumenal stem domain of GPP130.
Title: Manganese-induced trafficking and turnover of GPP130 is mediated by sortilin.
Findings suggest the unexpected presence of quality control in the Golgi that recognizes aggregated Golgi proteins, GPP130, and targets them for degradation in lysosomes.
Title: Induced oligomerization targets Golgi proteins for degradation in lysosomes.
Characteristics of GPP130 and its STx/STx1 binding interface.
Title: Shiga toxin-binding site for host cell receptor GPP130 reveals unexpected divergence in toxin-trafficking mechanisms.
the stem domain of GPP130 is a novel Mn sensor in the Golgi lumen of mammalian cells
Title: Manganese-induced trafficking and turnover of the cis-Golgi glycoprotein GPP130.
Multiple pH-regulated steps affect the trafficking of GPP130.
Title: Both post-Golgi and intra-Golgi cycling affect the distribution of the Golgi phosphoprotein GPP130.
both the translation and transcription are regulated independent of the cell cycle and dissociated from the duplication of the centrosome
Title: Expression of Golgi membrane protein p138 is cell cycle-independent and dissociated from centrosome duplication.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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 determinants of common epilepsies: a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. 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

RH93782 (e-PCR)
- UniSTS:90196

SHGC-148261 (e-PCR)
- UniSTS:172965

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi lumen	TAS Traceable Author Statement more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cis-Golgi network	TAS Traceable Author Statement more info	PubMed
located_in endocytic vesicle	TAS Traceable Author Statement more info	PubMed
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: Golgi integral membrane protein 4

Names: 130 kDa golgi-localized phosphoprotein; cis Golgi-localized calcium-binding protein; golgi integral membrane protein, cis; golgi phosphoprotein 4; golgi phosphoprotein of 130 kDa; golgi-localized phosphoprotein of 130 kDa; type II Golgi membrane 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_001308155.2 → NP_001295084.1 Golgi integral membrane protein 4 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the central coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC117467, BC171748, BM925724, BX097666, DA028346, DA542956

Consensus CDS

CCDS77854.1

UniProtKB/TrEMBL

F8W785

Related

ENSP00000309893.4, ENST00000309027.4

Conserved Domains (1) summary

pfam09798
Location:120 → 251

LCD1; DNA damage checkpoint protein
NM_014498.5 → NP_055313.1 Golgi integral membrane protein 4 isoform 1

See identical proteins and their annotated locations for NP_055313.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC117467, AK307557, AU310391, BC143232, BM925724, BX097666, U55853

Consensus CDS

CCDS3204.1

UniProtKB/Swiss-Prot

O00461

Related

ENSP00000417354.1, ENST00000470487.6

Conserved Domains (1) summary

cl23765
Location:67 → 213

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

168008689..168095924 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005247365.4 → XP_005247422.1 Golgi integral membrane protein 4 isoform X2

Conserved Domains (1) summary

pfam09798
Location:120 → 251

LCD1; DNA damage checkpoint protein
XM_005247364.4 → XP_005247421.1 Golgi integral membrane protein 4 isoform X1

Conserved Domains (1) summary

cl23765
Location:67 → 213

iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits
XM_047447978.1 → XP_047303934.1 Golgi integral membrane protein 4 isoform X3