GORASP1

protein-coding

golgi reassembly stacking protein 1, the group of PDZ domain containing

Gene 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 membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

Previous symbols:

GOLPH5

MANE transcript

NM_031899.4

Inheritance

—

ClinVar variants

U:75B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.34

Max pathogenic AF

—

Genomic locus

chr3:39,095,222-39,108,369

External References & Databases

Ensembl (ENSG00000114745)

Transcript & Mutation Effects

hg38 • Region Span ~13.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GORASP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031899.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar		2 clinvar	5
missense			69 clinvar	4 clinvar	1 clinvar	74
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	75	4	3	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 113 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031899.4	RefSeq	NP_114105.1	9	MANE Select
ENST00000319283.8	Ensembl	ENSP00000313869.3	9	MANE Select
NM_001278789.2	RefSeq	NP_001265718.1	7	Standard
NM_001278790.2	RefSeq	NP_001265719.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Post-translational protein modification
Metabolism of proteins
Golgi Cisternae Pericentriolar Stack Reorganization

Biological Process

protein N-linked glycosylation
endoplasmic reticulum to Golgi vesicle-mediated transport
Golgi organization
protein transport
COPII vesicle coating

Molecular Function

protein binding
metal ion binding

Cellular Component

Golgi membrane
Golgi apparatus
endoplasmic reticulum-Golgi intermediate compartment membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000319283
Coding exons: 9
Length: 11705
Individuals with no LoFs: 125711
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 125747
p: 0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.670	216	246	0.880	0.0000132	2824
Missense (PolyPhen)		67	76.285	0.87829		836
Synonymous	1.42	83	101	0.820	0.00000559	925
Loss of Function	2.55	6	17.5	0.342	8.33e-7	199

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00066	0.00065	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays an important role in assembly and membrane stacking of the Golgi cisternae, and in the reassembly of Golgi stacks after breakdown during mitosis (PubMed:26363069). Key structural protein required for the maintenance of the Golgi apparatus integrity: its caspase-mediated cleavage is required for fragmentation of the Golgi during apoptosis (By similarity). Also mediates, via its interaction with GOLGA2/GM130, the docking of transport vesicles with the Golgi membranes (PubMed:16489344). {ECO:0000250|UniProtKB:O35254, ECO:0000269|PubMed:16489344, ECO:0000269|PubMed:26363069}.;

Recessive Scores

pRec: 0.102

Intolerance Scores

RVIS EVS: 1.35
RVIS percentile EVS: 94.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.943

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium