GOLGA6L1

Summary

GOLGA6L1 (golgin A6 family like 1, HGNC:37444) is a protein-coding gene on chromosome 15q11.2, encoding Golgin subfamily A member 6-like protein 1 (Q8N7Z2).

At a glance

• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_001001413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37444
Approved symbol	GOLGA6L1
Name	golgin A6 family like 1
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000273976
Ensembl biotype	protein_coding
Entrez	283767

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000614055

RefSeq mRNA: 1 — MANE Select: NM_001001413 NM_001001413

CCDS: CCDS73699

Canonical transcript exons

ENST00000611085 — 0 exons

Expression profiles

Bgee: expression breadth broad, 25 present calls, max score 79.56.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.56	gold quality
left testis	UBERON:0004533	76.43	gold quality
testis	UBERON:0000473	75.52	gold quality
right testis	UBERON:0004534	75.31	gold quality
anterior cingulate cortex	UBERON:0009835	44.36	gold quality
ventricular zone	UBERON:0003053	43.20	gold quality
primary visual cortex	UBERON:0002436	39.13	gold quality
stromal cell of endometrium	CL:0002255	38.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	38.43	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
prefrontal cortex	UBERON:0000451	36.72	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
cerebral cortex	UBERON:0000956	36.36	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
frontal cortex	UBERON:0001870	36.02	silver quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.39	gold quality
right frontal lobe	UBERON:0002810	35.17	gold quality
bone marrow	UBERON:0002371	35.09	gold quality
skeletal muscle tissue	UBERON:0001134	34.97	gold quality
right lobe of thyroid gland	UBERON:0001119	34.03	gold quality
monocyte	CL:0000576	33.16	gold quality
leukocyte	CL:0000738	32.66	gold quality
liver	UBERON:0002107	32.62	gold quality
left lobe of thyroid gland	UBERON:0001120	32.59	gold quality
right lobe of liver	UBERON:0001114	32.39	gold quality
muscle tissue	UBERON:0002385	32.23	gold quality
right adrenal gland	UBERON:0001233	32.19	gold quality
vermiform appendix	UBERON:0001154	32.11	gold quality
thyroid gland	UBERON:0002046	32.01	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting GOLGA6L1, 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-3064-3P	100.00	70.09	1254
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-186-3P	99.51	66.24	1685

Cross-species orthologs

0 orthologs

Paralogs (10): GOLGA6L2 (ENSG00000174450), GOLGA6L4 (ENSG00000184206), GOLGA6L9 (ENSG00000197978), GOLGA6L25 (ENSG00000227717), GOLGA6L24 (ENSG00000237850), GOLGA6L7 (ENSG00000261649), GOLGA6L26 (ENSG00000273756), GOLGA6L6 (ENSG00000277322), GOLGA6L22 (ENSG00000277865), GOLGA6L10 (ENSG00000278662)

Protein

Protein identifiers

Golgin subfamily A member 6-like protein 1 — Q8N7Z2 (reviewed: Q8N7Z2)

All UniProt accessions (1): Q8N7Z2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA6 family.

RefSeq proteins (1): NP_001001413* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026737	GOLGA6L	Family

UniProt features (13 total): region of interest 5, compositionally biased region 5, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7Z2-F1	75.59	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): chr15q11, ZWANG_EGF_INTERVAL_UP, MIR3529_3P, MIR1827, MIR1252_3P, MIR4666A_5P, MIR3064_3P, MIR4426, MIR6747_3P, MIR1243, MIR23B_5P, MIR23A_5P, PULVER_FOREY_PERTURB_ACCUMULATION_G2_M, PULVER_FOREY_PERTURB_ATTRITION_M_EG1

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

623 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA6L1	GTF3C6	Q969F1	573
GOLGA6L1	OR4M2	Q8NGB6	507
GOLGA6L1	GTF3C5	Q9Y5Q8	501
GOLGA6L1	OR2T33	Q8NG76	450
GOLGA6L1	OR9G1	Q8NH87	447
GOLGA6L1	TRMT5	Q32P41	446
GOLGA6L1	GPHRA	B7ZAQ6	444
GOLGA6L1	OR4N4	Q8N0Y3	435
GOLGA6L1	ANKRD36B	Q8N2N9	402
GOLGA6L1	PCYT2	Q99447	401
GOLGA6L1	TRMT6	Q9UJA5	400
GOLGA6L1	ZFAND1	Q8TCF1	391
GOLGA6L1	DHX38	Q92620	384
GOLGA6L1	TMED2	Q15363	380
GOLGA6L1	COMMD2	Q86X83	378

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A0A1B0GV03, A6NEF3, A6NEM1, A6NI86, A8MZA4, B4DH59, D3YVF0, F6QRE9, H0YKK7, H0YM25, P0C6Y7, P0C7A2, P0DX00, P0DX01, P0DX02, P14590, P21263, P22793, P24587, P24710, P48997, P48998, Q07283, Q0II65, Q0P6D6, Q13342, Q3BBV2, Q4R9C9, Q5W0A0, Q6AXX0, Q6NSX1, Q6P5H2, Q6P902, Q86T75, Q8CHD8, Q8N2N9, Q8N660, Q8N7Z2

Diamond homologs: A0A1B0GV03, A1IH00, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NEF3, A6NEM1, A6NI86, A6NN73, A7E2F4, A8MQT2, A8MZA4, F8WBI6, H0YKK7, H0YM25, H3BPF8, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DX00, P0DX01, P0DX02, P0DX52, P0DX53, Q08379, Q62839, Q8N7Z2, Q8N9W4, Q921M4, Q9NYA3, A6NMD2, D6RF30, H3BQL2, Q0D2H9, Q9HBQ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1085 predictions. Top by Δscore:

Variant	Effect	Δscore
15:23131325:CTCA:C	donor_loss	1.0000
15:23131326:TCA:T	donor_loss	1.0000
15:23131327:CAC:C	donor_loss	1.0000
15:23131328:A:AC	donor_gain	1.0000
15:23131329:C:CC	donor_gain	1.0000
15:23131329:C:CG	donor_loss	1.0000
15:23131467:TTATG:T	acceptor_gain	1.0000
15:23131468:TATG:T	acceptor_gain	1.0000
15:23131469:ATG:A	acceptor_gain	1.0000
15:23131470:TG:T	acceptor_gain	1.0000
15:23131470:TGC:T	acceptor_loss	1.0000
15:23131471:GC:G	acceptor_loss	1.0000
15:23131472:C:CC	acceptor_gain	1.0000
15:23131472:C:CG	acceptor_loss	1.0000
15:23131474:A:C	acceptor_gain	1.0000
15:23131479:C:CT	acceptor_gain	1.0000
15:23131479:C:T	acceptor_gain	1.0000
15:23131480:A:T	acceptor_gain	1.0000
15:23131485:C:CT	acceptor_gain	1.0000
15:23131486:A:T	acceptor_gain	1.0000
15:23131487:G:C	acceptor_gain	1.0000
15:23131487:G:GC	acceptor_gain	1.0000
15:23131800:A:AC	donor_gain	1.0000
15:23131801:C:CC	donor_gain	1.0000
15:23131806:T:TA	donor_gain	1.0000
15:23133237:AC:A	donor_gain	1.0000
15:23133238:CC:C	donor_gain	1.0000
15:23133618:CTCA:C	donor_loss	1.0000
15:23133619:TCA:T	donor_loss	1.0000
15:23133620:CA:C	donor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000165979 (15:23127653 C>T), RS1005852724 (15:23134561 C>T), RS1012763673 (15:23127831 G>T), RS1013044497 (15:23132842 T>C), RS1022963340 (15:23132789 C>A,G,T), RS1023014237 (15:23127819 T>A), RS1029924846 (15:23127565 C>T), RS1032116779 (15:23127634 G>A), RS1035961200 (15:23133105 C>G), RS1037542628 (15:23133957 T>C), RS1050050613 (15:23135787 C>G), RS1050103773 (15:23132323 C>A,G,T), RS1056963530 (15:23130223 C>T), RS111945226 (15:23137465 C>G,T), RS111989150 (15:23134185 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
Cadmium	decreases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

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