GLOD5

Summary

GLOD5 (glyoxalase domain containing 5, HGNC:33358) is a protein-coding gene on chromosome Xp11.23, encoding Glyoxalase domain-containing protein 5 (A6NK44).

This gene encodes a protein with a glyoxalase domain.

Source: NCBI Gene 392465 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_001080489

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33358
Approved symbol	GLOD5
Name	glyoxalase domain containing 5
Location	Xp11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171433
Ensembl biotype	protein_coding
OMIM	301112
Entrez	392465

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000303227, ENST00000445229, ENST00000463327, ENST00000470676

RefSeq mRNA: 1 — MANE Select: NM_001080489 NM_001080489

CCDS: CCDS55410

Canonical transcript exons

ENST00000303227 — 4 exons

Exon	Start	End
ENSE00001794445	48761747	48761853
ENSE00001816543	48773310	48773648
ENSE00003650169	48765835	48765972
ENSE00003890627	48770927	48771082

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 88.22.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0622 / max 18.5137, expressed in 26 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196284	0.0349	14
196283	0.0273	15

Top tissues by expression

219 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	88.22	gold quality
kidney epithelium	UBERON:0004819	85.08	gold quality
ileal mucosa	UBERON:0000331	83.86	silver quality
mucosa of transverse colon	UBERON:0004991	80.88	gold quality
duodenum	UBERON:0002114	76.93	gold quality
jejunal mucosa	UBERON:0000399	76.72	gold quality
rectum	UBERON:0001052	75.87	gold quality
pancreatic ductal cell	CL:0002079	75.37	silver quality
buccal mucosa cell	CL:0002336	74.73	gold quality
right lobe of liver	UBERON:0001114	74.67	gold quality
adult mammalian kidney	UBERON:0000082	74.51	gold quality
upper arm skin	UBERON:0004263	71.68	gold quality
tibialis anterior	UBERON:0001385	70.97	silver quality
right uterine tube	UBERON:0001302	68.76	gold quality
liver	UBERON:0002107	68.38	gold quality
kidney	UBERON:0002113	67.67	gold quality
colonic mucosa	UBERON:0000317	67.02	gold quality
small intestine	UBERON:0002108	66.88	gold quality
transverse colon	UBERON:0001157	66.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	66.29	gold quality
islet of Langerhans	UBERON:0000006	65.79	gold quality
cardiac muscle of right atrium	UBERON:0003379	65.79	gold quality
left ventricle myocardium	UBERON:0006566	65.57	gold quality
mucosa of sigmoid colon	UBERON:0004993	63.96	silver quality
oviduct epithelium	UBERON:0004804	61.80	gold quality
right lobe of thyroid gland	UBERON:0001119	61.54	gold quality
metanephros cortex	UBERON:0010533	61.53	gold quality
cortex of kidney	UBERON:0001225	61.39	gold quality
left lobe of thyroid gland	UBERON:0001120	61.22	gold quality
upper lobe of left lung	UBERON:0008952	61.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting GLOD5, 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-4533	100.00	69.48	2758
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-6764-3P	98.44	67.64	1153
HSA-MIR-6824-3P	98.44	67.62	1154
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-5704	94.82	67.46	448

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	glod5	ENSDARG00000071871
mus_musculus	Glod5	ENSMUSG00000031163
rattus_norvegicus	Glod5	ENSRNOG00000039571
caenorhabditis_elegans	mce-1	WBGENE00008415

Paralogs (1): MCEE (ENSG00000124370)

Protein

Protein identifiers

Glyoxalase domain-containing protein 5 — A6NK44 (reviewed: A6NK44)

All UniProt accessions (2): A6NK44, H7C348

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the glyoxalase I family.

RefSeq proteins (1): NP_001073958* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004360	Glyas_Fos-R_dOase_dom	Domain
IPR029068	Glyas_Bleomycin-R_OHBP_Dase	Homologous_superfamily
IPR037523	VOC_core	Domain
IPR050383	GlyoxalaseI/FosfomycinResist	Family

Pfam: PF00903

UniProt features (13 total): strand 8, helix 2, chain 1, domain 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3ZW5	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NK44-F1	89.67	0.78

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): YAUCH_HEDGEHOG_SIGNALING_PARACRINE_UP, chrXp11, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13547_CTRL_VS_ANTI_IGM_STIM_BCELL_2H_DN, ZNF592_TARGET_GENES, MIR586, MIR3619_5P, MIR214_3P, MIR761, MIR330_5P, MIR326, MIR5704, GSE7568_CTRL_VS_24H_TGFB_TREATED_MACROPHAGES_WITH_IL4_AND_DEXAMETHASONE_DN, HAY_BONE_MARROW_CD34_POS_MKP, GSE11818_WT_VS_DICER_KO_TREG_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

444 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLOD5	HPDL	Q96IR7	582
GLOD5	TIFAB	Q6ZNK6	510
GLOD5	TMEM231	Q9H6L2	497
GLOD5	PPFIBP2	Q8ND30	472
GLOD5	OGFOD1	Q8N543	463
GLOD5	ITIH5	Q86UX2	461
GLOD5	MRRF	Q96E11	452
GLOD5	FARSA	Q9Y285	435
GLOD5	MARCHF9	Q86YJ5	426
GLOD5	GLOD4	Q9HC38	418
GLOD5	MARCHF2	Q9P0N8	386
GLOD5	MCEE	Q96PE7	366
GLOD5	HPD	P32754	358
GLOD5	TRMT10B	Q6PF06	352
GLOD5	KLK12	Q9UKR0	334

IntAct

2 interactions, top by confidence:

A	B	Type	Score
HDAC6	GLOD5	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): GLOD5 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U2WCB2, A6NK44, A6QLI6, A8XX92, A9NNH7, B9FK36, O42764, P05165, P07997, P08680, P0DTA4, P13196, P13446, P14882, P16635, P22557, P43090, P54889, Q19842, Q28CR0, Q2KIZ3, Q2QMG2, Q42523, Q42777, Q4KLB0, Q4WHU1, Q502D1, Q553V2, Q5I0C3, Q5R557, Q5R7K1, Q5R9R9, Q612F5, Q63147, Q6CDR5, Q6JQN1, Q759G5, Q872T7, Q8K370, Q91ZA3

Diamond homologs: A0A0U2WCB2, A6NK44, P0C5H0, Q28CR0, Q4KLB0, Q502D1, Q54L71, Q8ZM36, Q9D8I3, Q8CXK5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

735 predictions. Top by Δscore:

Variant	Effect	Δscore
X:48763869:A:T	donor_gain	1.0000
X:48765833:A:AG	acceptor_gain	1.0000
X:48765834:G:GG	acceptor_gain	1.0000
X:48770918:A:AG	acceptor_gain	1.0000
X:48770919:C:G	acceptor_gain	1.0000
X:48770922:A:G	acceptor_gain	1.0000
X:48761849:AACAG:A	donor_loss	0.9900
X:48761851:CAGGT:C	donor_loss	0.9900
X:48761852:AGGTG:A	donor_loss	0.9900
X:48761853:GGT:G	donor_loss	0.9900
X:48761854:GTG:G	donor_loss	0.9900
X:48761855:T:G	donor_loss	0.9900
X:48765834:GTC:G	acceptor_gain	0.9900
X:48765834:GTCAT:G	acceptor_gain	0.9900
X:48765973:G:GA	donor_loss	0.9900
X:48765973:G:GG	donor_gain	0.9900
X:48770907:T:A	acceptor_gain	0.9900
X:48770921:A:AG	acceptor_gain	0.9900
X:48770923:G:GG	acceptor_gain	0.9900
X:48770923:GTA:G	acceptor_gain	0.9900
X:48763868:G:GT	donor_gain	0.9800
X:48765972:GGT:G	donor_gain	0.9800
X:48770926:GGAA:G	acceptor_gain	0.9800
X:48771081:AGG:A	donor_loss	0.9800
X:48771082:GGT:G	donor_loss	0.9800
X:48771083:G:A	donor_loss	0.9800
X:48771084:T:G	donor_loss	0.9800
X:48773309:GGCTT:G	acceptor_gain	0.9800
X:48765973:GTA:G	donor_gain	0.9700
X:48770926:G:GT	acceptor_gain	0.9700

AlphaMissense

1060 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:48773411:G:C	E153D	0.987
X:48773411:G:T	E153D	0.987
X:48771031:C:A	D102E	0.985
X:48771031:C:G	D102E	0.985
X:48765931:T:C	F54L	0.984
X:48765933:T:A	F54L	0.984
X:48765933:T:G	F54L	0.984
X:48765891:C:A	H40Q	0.982
X:48765891:C:G	H40Q	0.982
X:48771030:A:T	D102V	0.982
X:48773390:C:A	D146E	0.981
X:48773390:C:G	D146E	0.981
X:48765967:T:C	F66L	0.980
X:48765969:T:A	F66L	0.980
X:48765969:T:G	F66L	0.980
X:48770972:C:G	H83D	0.979
X:48771037:T:G	C104W	0.979
X:48771035:T:C	C104R	0.978
X:48773410:A:T	E153V	0.978
X:48771029:G:C	D102H	0.977
X:48771030:A:C	D102A	0.977
X:48773416:C:T	S155F	0.977
X:48773386:G:C	R145P	0.975
X:48771036:G:A	C104Y	0.974
X:48773415:T:C	S155P	0.974
X:48770970:T:A	L82H	0.973
X:48773374:C:T	S141F	0.973
X:48770964:T:C	F80S	0.971
X:48765888:C:A	D39E	0.970
X:48765888:C:G	D39E	0.970

dbSNP variants (sampled 300 via entrez): RS1000382999 (X:48772352 A>G), RS1001054983 (X:48766139 T>A,C), RS1001384269 (X:48773799 A>C), RS1002920190 (X:48769787 G>A), RS1003056992 (X:48770353 A>G), RS1003569582 (X:48761224 C>T), RS1003939687 (X:48771924 A>G), RS1004077165 (X:48772266 T>C,G), RS1004101875 (X:48763348 T>A,C), RS1005046582 (X:48764805 A>C), RS1006103498 (X:48767510 C>T), RS1006630909 (X:48760817 C>T), RS1007050047 (X:48768880 A>G), RS1007513433 (X:48769347 A>T), RS1007632084 (X:48762626 A>G)

Disease associations

OMIM: gene MIM:301112 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010002_91	Refractive error	1.000000e-11
GCST90002402_511	Platelet count	3.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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