MAN1A1

Summary

MAN1A1 (mannosidase alpha class 1A member 1, HGNC:6821) is a protein-coding gene on chromosome 6q22.31, encoding Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (P33908). Involved in the maturation of Asn-linked oligosaccharides.

This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases.

Source: NCBI Gene 4121 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 80 total
• Druggable target: yes
• MANE Select transcript: NM_005907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6821
Approved symbol	MAN1A1
Name	mannosidase alpha class 1A member 1
Location	6q22.31
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000111885
Ensembl biotype	protein_coding
OMIM	604344
Entrez	4121

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000368468, ENST00000887750, ENST00000887751, ENST00000951254, ENST00000951255

RefSeq mRNA: 1 — MANE Select: NM_005907 NM_005907

CCDS: CCDS5122

Canonical transcript exons

ENST00000368468 — 13 exons

Exon	Start	End
ENSE00000762853	119301988	119302103
ENSE00000762854	119306896	119306992
ENSE00000840079	119348463	119349287
ENSE00001343003	119349542	119349761
ENSE00001860981	119177205	119179945
ENSE00002205089	119189664	119189883
ENSE00002231986	119180312	119180427
ENSE00002233915	119201254	119201347
ENSE00002272405	119188405	119188577
ENSE00002273685	119290683	119290763
ENSE00002280863	119204759	119204882
ENSE00002302528	119248260	119248354
ENSE00002309385	119193777	119193892

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 99.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4898 / max 362.1768, expressed in 1717 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
75327	19.5175	1709
75326	1.0868	608
75328	0.5234	289
75324	0.1373	55
75323	0.1313	63
75325	0.0935	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
synovial joint	UBERON:0002217	99.36	gold quality
renal medulla	UBERON:0000362	98.90	gold quality
pericardium	UBERON:0002407	98.85	gold quality
jejunal mucosa	UBERON:0000399	98.69	gold quality
lower lobe of lung	UBERON:0008949	98.32	gold quality
urethra	UBERON:0000057	98.20	gold quality
parotid gland	UBERON:0001831	97.93	gold quality
palpebral conjunctiva	UBERON:0001812	97.87	gold quality
calcaneal tendon	UBERON:0003701	97.77	gold quality
skin of hip	UBERON:0001554	97.40	gold quality
mammary duct	UBERON:0001765	97.31	gold quality
penis	UBERON:0000989	97.20	gold quality
adrenal tissue	UBERON:0018303	97.20	gold quality
islet of Langerhans	UBERON:0000006	97.14	gold quality
cartilage tissue	UBERON:0002418	96.91	gold quality
parietal pleura	UBERON:0002400	96.84	gold quality
superficial temporal artery	UBERON:0001614	96.79	gold quality
duodenum	UBERON:0002114	96.63	gold quality
pleura	UBERON:0000977	96.36	gold quality
jejunum	UBERON:0002115	96.33	gold quality
mucosa of urinary bladder	UBERON:0001259	96.32	gold quality
mammalian vulva	UBERON:0000997	96.26	gold quality
pylorus	UBERON:0001166	96.22	gold quality
liver	UBERON:0002107	96.18	gold quality
decidua	UBERON:0002450	96.07	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.96	gold quality
germinal epithelium of ovary	UBERON:0001304	95.95	gold quality
trabecular bone tissue	UBERON:0002483	95.94	gold quality
epithelium of mammary gland	UBERON:0003244	95.90	gold quality
colonic mucosa	UBERON:0000317	95.76	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-9467	yes	54.88
E-MTAB-6701	yes	51.86
E-ANND-3	yes	24.11
E-GEOD-83139	yes	3.73

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT1

miRNA regulators (miRDB)

229 targeting MAN1A1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-126-5P	100.00	72.71	3180
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-LET-7A-3P	100.00	74.03	3932
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 9)

• overexpression of Golgi alpha1,2-mannosidase IA, IB, and IC also accelerates ERAD of terminally misfolded human alpha1-antitrypsin variant null (Hong Kong) (NHK), and mannose trimming from the N-glycans on NHK in 293 cells (PMID:17727818)
• following HIV infection, there is an increased rate of catabolism of glycoconjugates in saliva resulting from changes in the proportions of the activity of isoenzymes A and B of N-acetyl-beta-hexosaminidase, beta-galactosidase and alpha-fucosidase (PMID:18217416)
• ERManI, by functioning as a downstream effector target of EDEM1, represents a checkpoint activation paradigm by which the mammalian unfolded protein response coordinates the boosting of endoplasmic reticulum (ER)-associated degradation. (PMID:19258393)
• Complex N-glycans generated by enzymes such as a-mannosidase I inhibit the activation of naive T cells. (PMID:21577142)
• We observed significant lower values of GAL, FUC and tendency to decrease of alpha-mannosidase and GLU concentration in nasal polyps (PMID:23911047)
• In situ proximity ligation assays of Golgi localization of alpha-mannosidase IA at giantin versus GM130-GRASP65 site, and absence or presence of N-glycans terminated with alpha3-mannose on trans-Golgi glycosyltransferases may be useful for distinguishing indolent from aggressive prostate cancer cells (PMID:28782625)
• These results show an oncogenic role of the Golgi mannosidase MAN1A1 in ovarian cancer, where MAN1A1 expression levels significantly affects recurrence-free and overall survival . Mannosidase-mediated N-glycosylation has a strong impact on tumour cell aggregation and affects the prognostic impact of the adhesion molecule ALCAM. (PMID:31659304)
• Markers of malignant prostate cancer cells: Golgi localization of alpha-mannosidase 1A at GM130-GRASP65 site and appearance of high mannose N-glycans on cell surface. (PMID:32331836)
• Identification of a Novel MAN1A1-ROS1 Fusion Gene Through mRNA-based Screening for Tyrosine Kinase Gene Aberrations in a Patient with Leiomyosarcoma. (PMID:33196586)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	man1a1	ENSDARG00000005652
mus_musculus	Man1a	ENSMUSG00000003746
rattus_norvegicus	Man1a1	ENSRNOG00000000800
drosophila_melanogaster	Edem2	FBGN0032480
drosophila_melanogaster	alpha-Man-Ic	FBGN0051202
drosophila_melanogaster	alpha-Man-Ia	FBGN0259170
caenorhabditis_elegans		WBGENE00008258
caenorhabditis_elegans		WBGENE00013919

Paralogs (6): EDEM2 (ENSG00000088298), EDEM3 (ENSG00000116406), MAN1C1 (ENSG00000117643), EDEM1 (ENSG00000134109), MAN1B1 (ENSG00000177239), MAN1A2 (ENSG00000198162)

Protein

Protein identifiers

Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA — P33908 (reviewed: P33908)

Alternative names: Man(9)-alpha-mannosidase, Mannosidase alpha class 1A member 1, Processing alpha-1,2-mannosidase IA

All UniProt accessions (1): P33908

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).

Subcellular location. Golgi apparatus membrane.

Activity regulation. Inhibited by both 1-deoxymannojirimycin and kifunensine.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyl hydrolase 47 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P33908-1	1	yes
P33908-2	2

RefSeq proteins (1): NP_005898* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001382	Glyco_hydro_47	Family
IPR012341	6hp_glycosidase-like_sf	Homologous_superfamily
IPR036026	Seven-hairpin_glycosidases	Homologous_superfamily
IPR050749	Glycosyl_Hydrolase_47	Family

Pfam: PF01532

Enzyme classification (BRENDA):

• EC 3.2.1.113 — mannosyl-oligosaccharide 1,2-alpha-mannosidase (BRENDA: 27 organisms, 103 substrates, 103 inhibitors, 15 Km, 4 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
MANALPHA(1,2)MAN-O-ME	0.296–0.78	4
4-METHYLUMBELLIFERYL ALPHA-D-MANNOPYRANOSIDE	0.07–0.09	2
ALPHA-1,2-MANNOBIOSE	0.456	1
MAN6GLCNAC	0.26	1
MAN8GLCNAC	0.1	1
MAN9GLCNAC2-[THYROGLOBULIN]	0.2	1
MANALPHA(1-2)MANALPHA(1-3)MANBETA(1-4)GLCNAC	1.25	1
MANNOBIOSE	0.67	1
P-NITROPHENYL-ALPHA-D-MANNOSIDE	0.087	1

Catalyzed reactions (Rhea), 2 shown:

• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + 4 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 4 beta-D-mannose (RHEA:56008)
• N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) + 3 H2O = N(4)-(alpha-D-Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2) + 3 beta-D-mannose (RHEA:56028)

UniProt features (15 total): splice variant 3, topological domain 2, sequence conflict 2, chain 1, sequence variant 1, transmembrane region 1, region of interest 1, compositionally biased region 1, active site 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P33908-F1	85.88	0.71

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): 522 (proton donor)

Disulfide bonds (1): 476–508

Glycosylation sites (1): 513

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

ID	Pathway
R-HSA-6811438	Intra-Golgi traffic
R-HSA-964827	Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-964739	N-glycan trimming and elongation in the cis-Golgi

MSigDB gene sets: 326 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, BEGUM_TARGETS_OF_PAX3_FOXO1_FUSION_UP, GOBP_N_GLYCAN_PROCESSING, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, KOBAYASHI_EGFR_SIGNALING_24HR_UP, TAATAAT_MIR126, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOZGIT_ESR1_TARGETS_DN, AAGCCAT_MIR135A_MIR135B, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_PROTEIN_TARGETING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS

GO Biological Process (6): carbohydrate metabolic process (GO:0005975), ERAD pathway (GO:0036503), protein targeting to ER (GO:0045047), Golgi apparatus N-glycan mannose trimming (GO:1904381), mannose trimming involved in glycoprotein ERAD pathway (GO:1904382), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (6): mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571), calcium ion binding (GO:0005509), mannosidase activity (GO:0015923), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (8): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum-Golgi intermediate compartment (GO:0005793), Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Intra-Golgi and retrograde Golgi-to-ER traffic	1
N-glycan trimming and elongation in the cis-Golgi	1
Vesicle-mediated transport	1
Post-translational protein modification	1
Metabolism of proteins	1
Membrane Trafficking	1
Asparagine N-linked glycosylation	1
Transport to the Golgi and subsequent modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	5
intracellular membrane-bounded organelle	3
endomembrane system	2
cellular anatomical structure	2
primary metabolic process	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
protein targeting	1
establishment of protein localization to endoplasmic reticulum	1
N-glycan processing	1
protein deglycosylation involved in glycoprotein catabolic process	1
protein alpha-1,2-demannosylation	1
ubiquitin-dependent glycoprotein ERAD pathway	1
mannosyl-oligosaccharide mannosidase activity	1
metal ion binding	1
hydrolase activity, hydrolyzing O-glycosyl compounds	1
binding	1
catalytic activity	1
hydrolase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
intracellular vesicle	1
extracellular vesicle	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAN1A1	MAN2A1	Q16706	941
MAN1A1	MAN2A2	P49641	706
MAN1A1	MOGS	Q13724	690
MAN1A1	MAN2C1	Q9NTJ4	651
MAN1A1	ITIH4	Q14624	605
MAN1A1	CD209	Q9NNX6	598
MAN1A1	SLCO2A1	Q92959	591
MAN1A1	MGAT1	P26572	591
MAN1A1	UGGT1	Q9NYU2	565
MAN1A1	LEMD3	Q9Y2U8	544
MAN1A1	GANAB	Q14697	543
MAN1A1	ENGASE	Q8NFI3	541
MAN1A1	CD207	Q9UJ71	534
MAN1A1	ALG3	Q92685	527
MAN1A1	MAN2B1	O00754	526

IntAct

73 interactions, top by confidence:

A	B	Type	Score
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
UST	GOLIM4	psi-mi:“MI:0914”(association)	0.530
CD1B	TOR1B	psi-mi:“MI:0914”(association)	0.530
OCLN	DNAJC13	psi-mi:“MI:0914”(association)	0.530
MMP10	TIMP1	psi-mi:“MI:0914”(association)	0.530
EPHA2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
EPO	MAN1A1	psi-mi:“MI:0915”(physical association)	0.500
MAN1A1		psi-mi:“MI:0915”(physical association)	0.370
CFTR	MAN1A1	psi-mi:“MI:0915”(physical association)	0.370
M2	AGPS	psi-mi:“MI:0914”(association)	0.350
PLAUR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
CLU	TOR1A	psi-mi:“MI:0914”(association)	0.350
GINM1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
CLDND1	MAN1A2	psi-mi:“MI:0914”(association)	0.350
CDCP1	CLSTN1	psi-mi:“MI:0914”(association)	0.350
	PLOD2	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
GORASP2	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMED10	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMED2	PGRMC1	psi-mi:“MI:0914”(association)	0.350
TMEM106A	QSOX1	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
GINM1	FAM234B	psi-mi:“MI:0914”(association)	0.350

BioGRID (110): MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), MAN1A1 (Affinity Capture-MS), SAR1A (Negative Genetic)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

Diamond homologs: A1CP08, A1D1W1, A2AJ15, A2QAS2, B0XMT4, B2GUY0, B8N417, D4AV26, E9CXX8, O02773, O18498, O60476, P31723, P33908, P39098, P45700, P45701, P53624, Q0D076, Q12563, Q18788, Q2ULB2, Q4WRZ5, Q5BF93, Q8H116, Q8J0Q0, Q93Y37, Q9C512, Q9NR34, Q9UKM7, O94726, P32906, Q2HXL6, Q6GQB9, Q8BJT9, Q925U4, Q92611, Q9BV94, Q9BZQ6, Q9FG93

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	64
Likely benign	1
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2682 predictions. Top by Δscore:

Variant	Effect	Δscore
6:119188428:T:TA	donor_gain	1.0000
6:119188573:CATAA:C	acceptor_gain	1.0000
6:119188575:TAA:T	acceptor_gain	1.0000
6:119188578:C:CC	acceptor_gain	1.0000
6:119188587:A:C	acceptor_gain	1.0000
6:119189661:CA:C	donor_loss	1.0000
6:119189662:A:AC	donor_gain	1.0000
6:119189662:ACA:A	donor_loss	1.0000
6:119189663:C:CA	donor_gain	1.0000
6:119189663:C:CT	donor_loss	1.0000
6:119189663:CA:C	donor_gain	1.0000
6:119189663:CAT:C	donor_gain	1.0000
6:119189663:CATG:C	donor_gain	1.0000
6:119189663:CATGT:C	donor_gain	1.0000
6:119193771:GGTTA:G	donor_loss	1.0000
6:119193772:GTTA:G	donor_loss	1.0000
6:119193773:TTA:T	donor_loss	1.0000
6:119193774:TACC:T	donor_loss	1.0000
6:119193775:A:C	donor_loss	1.0000
6:119193776:CCTGA:C	donor_loss	1.0000
6:119193805:G:C	donor_gain	1.0000
6:119193888:ATGAT:A	acceptor_gain	1.0000
6:119193889:TGAT:T	acceptor_gain	1.0000
6:119193889:TGATC:T	acceptor_gain	1.0000
6:119193890:GAT:G	acceptor_gain	1.0000
6:119193890:GATCT:G	acceptor_gain	1.0000
6:119193891:AT:A	acceptor_gain	1.0000
6:119193891:ATCT:A	acceptor_gain	1.0000
6:119193892:TC:T	acceptor_loss	1.0000
6:119193892:TCTGG:T	acceptor_gain	1.0000

AlphaMissense

4286 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:119204858:C:A	W339C	1.000
6:119204858:C:G	W339C	1.000
6:119189782:G:C	C476W	0.999
6:119201263:A:G	W401R	0.999
6:119201263:A:T	W401R	0.999
6:119201283:A:G	L394P	0.999
6:119204840:A:C	S345R	0.999
6:119204840:A:T	S345R	0.999
6:119204842:T:G	S345R	0.999
6:119204860:A:G	W339R	0.999
6:119204860:A:T	W339R	0.999
6:119290743:A:C	F279L	0.999
6:119290743:A:T	F279L	0.999
6:119290745:A:G	F279L	0.999
6:119348896:C:T	G57E	0.999
6:119348903:A:G	C55R	0.999
6:119348919:G:C	S49R	0.999
6:119348919:G:T	S49R	0.999
6:119348921:T:G	S49R	0.999
6:119180332:G:C	F605L	0.998
6:119180332:G:T	F605L	0.998
6:119180334:A:G	F605L	0.998
6:119180335:A:C	S604R	0.998
6:119180335:A:T	S604R	0.998
6:119180337:T:G	S604R	0.998
6:119188546:A:C	F526L	0.998
6:119188546:A:T	F526L	0.998
6:119188548:A:G	F526L	0.998
6:119189686:A:C	C508W	0.998
6:119189687:C:T	C508Y	0.998

dbSNP variants (sampled 300 via entrez): RS1000030516 (6:119183318 G>A,C), RS1000036175 (6:119347039 A>G), RS1000057705 (6:119184770 C>A), RS1000062277 (6:119223178 G>A,T), RS1000069482 (6:119347947 C>G,T), RS1000088317 (6:119184551 G>A), RS1000120027 (6:119229568 T>C), RS1000131639 (6:119270513 T>G), RS1000132766 (6:119199736 T>C,G), RS1000133172 (6:119306743 C>A,G,T), RS1000166985 (6:119287836 C>T), RS1000182405 (6:119328619 T>C), RS1000213890 (6:119213504 A>G), RS1000223436 (6:119322618 T>C), RS1000236749 (6:119341393 G>A)

Disease associations

OMIM: gene MIM:604344 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002751_3	Spontaneous preterm birth (preterm birth)	5.000000e-06
GCST008152_77	Weight	2.000000e-06
GCST009391_2002	Metabolite levels	2.000000e-06
GCST010988_375	Adult body size	1.000000e-10
GCST011780_11	Neonatal white matter microstructure	4.000000e-06
GCST011983_11	Fasting glucose	4.000000e-07

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0006917	spontaneous preterm birth
EFO:0006921	birth measurement
EFO:0004338	body weight
EFO:0010347	cholesteryl ester 20:3 measurement
EFO:0005674	white matter microstructure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5915 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	6
sodium arsenite	increases expression, affects expression, decreases expression	4
trichostatin A	affects cotreatment, increases expression	3
Vorinostat	affects cotreatment, increases expression, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases methylation	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tetrabromobisphenol A	decreases expression	1
potassium chromate(VI)	increases expression	1
bicalutamide	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
ICG 001	increases expression	1
ON 01910	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Oxaliplatin	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL900915	Binding	Inhibition of human alpha mannosidase	Synthesis of 1-deoxy-1-hydroxymethyl- and 1-deoxy-1-epi-hydroxymethyl castanospermine as new potential immunomodulating agents. — J Med Chem

Clinical trials (associated diseases)

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