GOLGA5

Summary

GOLGA5 (golgin A5, HGNC:4428) is a protein-coding gene on chromosome 14q32.12, encoding Golgin subfamily A member 5 (Q8TBA6). Involved in maintaining Golgi structure.

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5.

Source: NCBI Gene 9950 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 110 total
• MANE Select transcript: NM_005113

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4428
Approved symbol	GOLGA5
Name	golgin A5
Location	14q32.12
Locus type	gene with protein product
Status	Approved
Aliases	ret-II, golgin-84, rfg5, GOLIM5
Ensembl gene	ENSG00000066455
Ensembl biotype	protein_coding
OMIM	606918
Entrez	9950

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 retained_intron

ENST00000163416, ENST00000554700, ENST00000555793, ENST00000868374, ENST00000868375, ENST00000868376, ENST00000868377, ENST00000868378, ENST00000868379, ENST00000868380, ENST00000868381, ENST00000868382, ENST00000868383, ENST00000868384, ENST00000868385

RefSeq mRNA: 1 — MANE Select: NM_005113 NM_005113

CCDS: CCDS9905

Canonical transcript exons

ENST00000163416 — 13 exons

Exon	Start	End
ENSE00000373020	92811551	92811754
ENSE00000373024	92833122	92833347
ENSE00000659881	92806736	92806963
ENSE00000659882	92809300	92809519
ENSE00000659883	92810254	92810377
ENSE00000659891	92816251	92816421
ENSE00000659892	92819708	92819836
ENSE00000659893	92824546	92824644
ENSE00000659895	92835559	92835664
ENSE00000659896	92837386	92837449
ENSE00000808700	92797408	92797981
ENSE00001762532	92839366	92839947
ENSE00002507040	92794305	92794456

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 96.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.4868 / max 215.6569, expressed in 1800 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141146	24.8586	1796
141145	0.7157	455
141147	0.4804	285
141144	0.4320	209

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.05	gold quality
islet of Langerhans	UBERON:0000006	93.58	gold quality
calcaneal tendon	UBERON:0003701	93.34	gold quality
parotid gland	UBERON:0001831	93.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.98	gold quality
rectum	UBERON:0001052	92.86	gold quality
skin of hip	UBERON:0001554	92.84	gold quality
oocyte	CL:0000023	92.73	gold quality
right lobe of liver	UBERON:0001114	92.48	gold quality
body of pancreas	UBERON:0001150	92.19	gold quality
nasal cavity mucosa	UBERON:0001826	92.17	gold quality
corpus epididymis	UBERON:0004359	92.07	gold quality
placenta	UBERON:0001987	92.05	gold quality
pancreas	UBERON:0001264	92.01	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.51	gold quality
epithelium of nasopharynx	UBERON:0001951	91.41	gold quality
nasopharynx	UBERON:0001728	91.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.37	gold quality
colonic mucosa	UBERON:0000317	91.09	gold quality
decidua	UBERON:0002450	91.09	gold quality
liver	UBERON:0002107	91.05	gold quality
stromal cell of endometrium	CL:0002255	91.01	gold quality
jejunal mucosa	UBERON:0000399	91.00	gold quality
oral cavity	UBERON:0000167	90.88	gold quality
saliva-secreting gland	UBERON:0001044	90.77	gold quality
gingival epithelium	UBERON:0001949	90.76	gold quality
lower lobe of lung	UBERON:0008949	90.75	gold quality
lower esophagus mucosa	UBERON:0035834	90.74	gold quality
gingiva	UBERON:0001828	90.72	gold quality
gall bladder	UBERON:0002110	90.68	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.69

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting GOLGA5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-557	99.96	70.01	1640
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-8067	99.86	69.59	2260
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-7-5P	99.67	70.53	1809

Literature-anchored findings (GeneRIF, showing 2)

• involved in generating and maintaining the architecture of the Golgi apparatus (PMID:12656988)
• Golgin-84 on coat protein I vesicles interacts with the conserved oligomeric Golgi complex before SNARE assembly. (PMID:20874812)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	golga5	ENSDARG00000039279
mus_musculus	Golga5	ENSMUSG00000021192
rattus_norvegicus	Golga5	ENSRNOG00000007699
drosophila_melanogaster	Golgin84	FBGN0039188
caenorhabditis_elegans	golg-5	WBGENE00011975

Protein

Protein identifiers

Golgin subfamily A member 5 — Q8TBA6 (reviewed: Q8TBA6)

Alternative names: Cell proliferation-inducing gene 31 protein, Golgin-84, Protein Ret-II, RET-fused gene 5 protein

All UniProt accessions (2): Q8TBA6, H0YK03

UniProt curated annotations — full annotation on UniProt →

Function. Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport.

Subunit / interactions. Homodimer. Interacts with RAB1A that has been activated by GTP-binding, and possibly also with OCRL1. Interacts with isoform CASP of CUX1.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Ubiquitous. Highly expressed in seminiferous tubules and Leydig cells in testis, and detected at much lower levels in the other tissues tested. Expression is very low or not detectable in spermatozoa.

Post-translational modifications. Highly phosphorylated during mitosis. Phosphorylation is barely detectable during interphase.

Disease relevance. A chromosomal aberration involving GOLGA5 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;14)(q11;q32) with RET. The translocation generates the RET/GOLGA5 (PTC5) oncogene.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TBA6-1	1	yes
Q8TBA6-2	2

RefSeq proteins (1): NP_005104* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019177	Golgin_subfamily_A_member_5	Family

Pfam: PF09787

UniProt features (21 total): compositionally biased region 4, modified residue 3, splice variant 2, sequence variant 2, sequence conflict 2, topological domain 2, initiator methionine 1, chain 1, site 1, transmembrane region 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TBA6-F1	72.60	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 497–498 (breakpoint for translocation to form ret-golga5 oncogene)

Post-translational modifications (3): 2, 89, 116

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6811438	Intra-Golgi traffic

MSigDB gene sets: 130 (showing top): MODULE_255, MODULE_317, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, GOBP_INTRA_GOLGI_VESICLE_MEDIATED_TRANSPORT, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, E4F1_Q6, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, DANG_BOUND_BY_MYC, chr14q32, GOBP_GOLGI_ORGANIZATION, GOCC_GOLGI_STACK, GOCC_GOLGI_CISTERNA

GO Biological Process (3): retrograde transport, vesicle recycling within Golgi (GO:0000301), Golgi organization (GO:0007030), Golgi vesicle transport (GO:0048193)

GO Molecular Function (2): small GTPase binding (GO:0031267), protein homodimerization activity (GO:0042803)

GO Cellular Component (6): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), membrane (GO:0016020), transport vesicle (GO:0030133), Golgi cisterna (GO:0031985)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi apparatus	2
endomembrane system	2
intracellular membrane-bounded organelle	2
intra-Golgi vesicle-mediated transport	1
organelle organization	1
endomembrane system organization	1
vesicle-mediated transport	1
GTPase binding	1
identical protein binding	1
protein dimerization activity	1
bounding membrane of organelle	1
cytoplasm	1
cellular anatomical structure	1
cytoplasmic vesicle	1
Golgi stack	1
Golgi apparatus subcompartment	1

Protein interactions and networks

STRING

1034 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA5	COG7	P83436	930
GOLGA5	GOLGB1	Q14789	920
GOLGA5	CUX1	P39880	778
GOLGA5	GORASP1	Q9BQQ3	773
GOLGA5	OCRL	Q01968	766
GOLGA5	TRIP11	Q15643	739
GOLGA5	COG3	Q96JB2	731
GOLGA5	COG8	Q96MW5	709
GOLGA5	RAB1A	P11476	693
GOLGA5	BLZF1	Q9H2G9	693
GOLGA5	GOLGA2	Q08379	692
GOLGA5	GORASP2	Q9H8Y8	683
GOLGA5	TRIM33	Q9UPN9	683
GOLGA5	COG5	Q9UP83	668
GOLGA5	COG6	Q9Y2V7	646

IntAct

229 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
CHST14	CANX	psi-mi:“MI:0914”(association)	0.640
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
CERS2	ATP5F1B	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
IPPK	TMEM223	psi-mi:“MI:0914”(association)	0.530
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
POMK	TMEM120B	psi-mi:“MI:0914”(association)	0.530
HTR2C	KLRG2	psi-mi:“MI:0914”(association)	0.530
B4GALT3	SLC19A2	psi-mi:“MI:0914”(association)	0.530
SPINT2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CCDC107	PLD2	psi-mi:“MI:0914”(association)	0.530
SPPL2B	UQCRQ	psi-mi:“MI:0914”(association)	0.530
ODAD3	CCDC22	psi-mi:“MI:0914”(association)	0.530
GPR161	USP12	psi-mi:“MI:0914”(association)	0.530
ASGR2	MT-CO1	psi-mi:“MI:0914”(association)	0.530
STS	GJA1	psi-mi:“MI:0914”(association)	0.530
AOC2	GOLGA5	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530

BioGRID (349): GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Proximity Label-MS), GOLGA5 (Proximity Label-MS), GOLGA5 (Affinity Capture-MS), GOLGA5 (Affinity Capture-MS)

ESM2 similar proteins: B0WPU9, B3MNR6, B3NL60, B4G831, B4I5P7, B4N1C2, B4PAF2, B4Q9E6, B6MFW3, F1MA98, F6ZDS4, G0SA56, O61493, O76878, P12270, P16568, P70403, P85001, Q13948, Q17AF4, Q24185, Q29N92, Q2T9W6, Q3ZU82, Q4V7E8, Q4WDD7, Q5EE04, Q5R8V1, Q5TZ80, Q5ZJ27, Q6GNT7, Q6GQ73, Q6IR70, Q6NRB0, Q6ZMI0, Q7PWT9, Q7SXE4, Q86VS8, Q8BIL5, Q8BUK6

Diamond homologs: Q3ZU82, Q5JLY8, Q6GNT7, Q7SXE4, Q8S8N9, Q8SZ63, Q8TBA6, Q9QYE6, B0F9L7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 220 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Class A/1 (Rhodopsin-like receptors)	15	7.0×	2e-06
COPII-mediated vesicle transport	6	6.2×	1e-02
GPCR ligand binding	15	6.1×	7e-06
Signaling by GPCR	15	3.8×	1e-03
GPCR downstream signalling	13	3.6×	4e-03
G alpha (i) signalling events	14	3.5×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
Golgi to plasma membrane transport	6	16.7×	4e-04
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	10	10.8×	3e-05
endocytic recycling	7	9.3×	2e-03
positive regulation of cytosolic calcium ion concentration	11	6.4×	4e-04
phospholipase C-activating G protein-coupled receptor signaling pathway	9	5.9×	4e-03
adenylate cyclase-activating G protein-coupled receptor signaling pathway	10	5.6×	2e-03
protein transport	20	4.3×	3e-05
G protein-coupled receptor signaling pathway	21	3.8×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

110 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	87
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2311 predictions. Top by Δscore:

Variant	Effect	Δscore
14:92797403:TACA:T	acceptor_loss	1.0000
14:92797405:CA:C	acceptor_loss	1.0000
14:92797406:A:AC	acceptor_loss	1.0000
14:92797407:G:C	acceptor_loss	1.0000
14:92806734:A:AC	acceptor_loss	1.0000
14:92806734:A:AG	acceptor_gain	1.0000
14:92806735:G:GT	acceptor_gain	1.0000
14:92806735:GA:G	acceptor_gain	1.0000
14:92806735:GAA:G	acceptor_gain	1.0000
14:92806735:GAAGC:G	acceptor_gain	1.0000
14:92806896:G:GT	donor_gain	1.0000
14:92806897:A:T	donor_gain	1.0000
14:92806900:G:GT	donor_gain	1.0000
14:92806904:T:G	donor_gain	1.0000
14:92806960:GAAG:G	donor_gain	1.0000
14:92806961:A:T	donor_gain	1.0000
14:92809298:A:AG	acceptor_gain	1.0000
14:92809299:G:GG	acceptor_gain	1.0000
14:92809518:CGGTA:C	donor_loss	1.0000
14:92809520:G:GA	donor_loss	1.0000
14:92809520:G:GG	donor_gain	1.0000
14:92809521:T:G	donor_loss	1.0000
14:92810252:A:AG	acceptor_gain	1.0000
14:92810253:G:A	acceptor_loss	1.0000
14:92810253:G:GG	acceptor_gain	1.0000
14:92810253:GA:G	acceptor_gain	1.0000
14:92810253:GAAT:G	acceptor_gain	1.0000
14:92810253:GAATA:G	acceptor_gain	1.0000
14:92810358:A:T	donor_gain	1.0000
14:92811549:A:AG	acceptor_gain	1.0000

AlphaMissense

4822 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:92811750:T:C	L439P	1.000
14:92833183:T:C	L594P	1.000
14:92833195:T:C	L598P	1.000
14:92797481:T:C	L15S	0.999
14:92811737:G:C	A435P	0.999
14:92811738:C:A	A435D	0.999
14:92816251:T:C	S441P	0.999
14:92833171:G:C	R590P	0.999
14:92833174:T:C	L591P	0.999
14:92833207:A:C	Q602P	0.999
14:92833225:T:C	L608P	0.999
14:92835643:C:A	A677D	0.999
14:92835652:T:A	I680N	0.999
14:92837406:T:C	L691P	0.999
14:92839381:T:A	W711R	0.999
14:92839381:T:C	W711R	0.999
14:92797460:C:A	A8D	0.998
14:92809458:G:C	A311P	0.998
14:92816256:G:C	K442N	0.998
14:92816256:G:T	K442N	0.998
14:92824634:T:C	L570P	0.998
14:92833246:T:C	L615P	0.998
14:92833258:T:C	L619P	0.998
14:92835640:C:A	A676D	0.998
14:92835655:A:C	D681A	0.998
14:92835655:A:T	D681V	0.998
14:92837394:T:C	L687P	0.998
14:92837396:G:A	G688R	0.998
14:92837396:G:C	G688R	0.998
14:92837397:G:A	G688E	0.998

dbSNP variants (sampled 300 via entrez): RS1000028225 (14:92831992 T>G), RS1000042338 (14:92795931 C>G), RS1000109764 (14:92798848 C>A,T), RS1000157705 (14:92835902 A>G), RS1000199042 (14:92793733 A>G), RS1000222328 (14:92833895 TA>T,TAA), RS1000240339 (14:92804938 G>A,T), RS1000253379 (14:92825684 G>C), RS1000293082 (14:92835435 T>C), RS1000442117 (14:92802999 T>G), RS1000532377 (14:92837233 A>G), RS1000625676 (14:92837005 A>G), RS1000644598 (14:92794570 C>G), RS1000651000 (14:92797370 C>T), RS1000655002 (14:92796068 C>T)

Disease associations

OMIM: gene MIM:606918 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_7	Body mass index	4.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Cyclosporine	increases expression	3
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
FR900359	increases phosphorylation	1
dicrotophos	decreases expression	1
afimoxifene	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases expression	1
Air Pollutants, Occupational	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	increases expression	1
Manganese	affects expression	1
Nickel	decreases expression	1
Ozone	affects expression, increases abundance	1
Tobacco Smoke Pollution	increases expression	1
Tunicamycin	increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	increases expression	1
Thapsigargin	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Raloxifene Hydrochloride	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2XZ	Abcam HEK293T GOLGA5 KO	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.