IAH1

Summary

IAH1 (isoamyl acetate hydrolyzing esterase 1 (putative), HGNC:27696) is a protein-coding gene on chromosome 2p25.1, encoding Isoamyl acetate-hydrolyzing esterase 1 homolog (Q2TAA2). Probable lipase.

Enables identical protein binding activity. Predicted to be involved in lipid catabolic process. Predicted to act upstream of or within gene expression.

Source: NCBI Gene 285148 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 81 total — 3 pathogenic
• MANE Select transcript: NM_001039613

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27696
Approved symbol	IAH1
Name	isoamyl acetate hydrolyzing esterase 1 (putative)
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000134330
Ensembl biotype	protein_coding
Entrez	285148

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000351760, ENST00000470914, ENST00000481367, ENST00000481688, ENST00000482918, ENST00000484826, ENST00000487850, ENST00000489468, ENST00000490621, ENST00000492223, ENST00000495050, ENST00000495494, ENST00000495797, ENST00000496603, ENST00000497473

RefSeq mRNA: 5 — MANE Select: NM_001039613 NM_001039613, NM_001320858, NM_001320859, NM_001320860, NM_001320863

CCDS: CCDS42651, CCDS82418

Canonical transcript exons

ENST00000497473 — 6 exons

Exon	Start	End
ENSE00001822898	9488147	9489742
ENSE00001880619	9474551	9474647
ENSE00003472037	9481286	9481447
ENSE00003497583	9478222	9478370
ENSE00003602804	9484432	9484550
ENSE00003621150	9475987	9476039

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 49.7073 / max 217.0966, expressed in 1662 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18765	48.4190	1661
18763	0.7433	274
18764	0.4745	256
18767	0.0459	8
18766	0.0246	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.60	gold quality
oocyte	CL:0000023	98.57	gold quality
pericardium	UBERON:0002407	98.52	gold quality
corpus epididymis	UBERON:0004359	98.26	gold quality
left testis	UBERON:0004533	97.68	gold quality
right testis	UBERON:0004534	97.65	gold quality
lower lobe of lung	UBERON:0008949	97.59	gold quality
caput epididymis	UBERON:0004358	97.44	gold quality
oviduct epithelium	UBERON:0004804	97.41	gold quality
cauda epididymis	UBERON:0004360	97.22	gold quality
vena cava	UBERON:0004087	96.82	gold quality
cortical plate	UBERON:0005343	96.77	gold quality
left ventricle myocardium	UBERON:0006566	96.63	gold quality
testis	UBERON:0000473	96.53	gold quality
epithelium of nasopharynx	UBERON:0001951	96.47	gold quality
popliteal artery	UBERON:0002250	96.47	gold quality
tibial artery	UBERON:0007610	96.47	gold quality
pharyngeal mucosa	UBERON:0000355	96.37	gold quality
right adrenal gland cortex	UBERON:0035827	96.35	gold quality
right adrenal gland	UBERON:0001233	96.31	gold quality
tibialis anterior	UBERON:0001385	96.24	gold quality
trigeminal ganglion	UBERON:0001675	96.24	gold quality
heart left ventricle	UBERON:0002084	96.18	gold quality
left adrenal gland cortex	UBERON:0035825	96.18	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.15	gold quality
superior surface of tongue	UBERON:0007371	96.14	gold quality
lower esophagus	UBERON:0013473	96.13	gold quality
cardiac ventricle	UBERON:0002082	96.06	gold quality
aorta	UBERON:0000947	96.05	gold quality
left adrenal gland	UBERON:0001234	96.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting IAH1, 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-3163	100.00	77.23	8605
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-20B-3P	99.29	67.05	784
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-3688-5P	99.12	69.67	1091
HSA-MIR-3164	99.02	68.39	1071
HSA-MIR-6820-3P	99.02	68.50	1035
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-758-3P	98.42	68.60	1122
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-6874-3P	97.29	66.34	975
HSA-MIR-4535	97.27	65.17	469

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	iah1	ENSDARG00000015765
mus_musculus	Iah1	ENSMUSG00000062054
rattus_norvegicus	Iah1	ENSRNOG00000060853

Protein

Protein identifiers

Isoamyl acetate-hydrolyzing esterase 1 homolog — Q2TAA2 (reviewed: Q2TAA2)

All UniProt accessions (8): A0A140VJL6, C9J5J2, C9JDY4, Q2TAA2, C9JE02, F8WF34, H7BXP8, H7C5G1

UniProt curated annotations — full annotation on UniProt →

Function. Probable lipase.

Similarity. Belongs to the ‘GDSL’ lipolytic enzyme family. IAH1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2TAA2-1	1	yes
Q2TAA2-2	2

RefSeq proteins (5): NP_001034702, NP_001307787, NP_001307788, NP_001307789, NP_001307792 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001087	GDSL	Family
IPR036514	SGNH_hydro_sf	Homologous_superfamily
IPR045136	Iah1-like	Family

Pfam: PF00657

UniProt features (8 total): active site 3, site 2, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2TAA2-F1	93.67	0.86

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 (5): 24 (nucleophile); 196 (proton donor); 199 (proton acceptor); 56 (transition state stabilizer); 89 (transition state stabilizer)

Post-translational modifications (1): 63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): chr2p25, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, KARLSSON_TGFB1_TARGETS_DN, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BROWN_UP, SETD7_TARGET_GENES, SYNCRIP_TARGET_GENES, ZIM3_TARGET_GENES, ZNF711_TARGET_GENES, MIR4729, MIR126_5P, MIR889_3P, MIR670_5P

GO Biological Process (3): gene expression (GO:0010467), lipid catabolic process (GO:0016042), lipid metabolic process (GO:0006629)

GO Molecular Function (3): hydrolase activity, acting on ester bonds (GO:0016788), identical protein binding (GO:0042802), hydrolase activity (GO:0016787)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macromolecule biosynthetic process	1
lipid metabolic process	1
catabolic process	1
primary metabolic process	1
hydrolase activity	1
protein binding	1
catalytic activity	1

Protein interactions and networks

STRING

1015 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IAH1	ABHD11	Q8NFV4	547
IAH1	TTC28	Q96AY4	499
IAH1	ABHD3	Q8WU67	457
IAH1	F13B	P05160	434
IAH1	GDNF	P39905	420
IAH1	BCAT2	O15382	417
IAH1	PAFAH1B2	P68402	412
IAH1	OVCA2	Q8WZ82	401
IAH1	LYPLA2	O95372	379
IAH1	TES	Q9UGI8	378
IAH1	CES4A	Q5XG92	375
IAH1	SNF8	Q96H20	364
IAH1	CES5A	Q6NT32	362
IAH1	ABHD17B	Q5VST6	355
IAH1	PYGL	P06737	354

IntAct

11 interactions, top by confidence:

A	B	Type	Score
IAH1	IAH1	psi-mi:“MI:0915”(physical association)	0.560
UCK2	IAH1	psi-mi:“MI:0914”(association)	0.530
	TK2	psi-mi:“MI:0915”(physical association)	0.400
PRNP	WDR91	psi-mi:“MI:0914”(association)	0.350
GSC	DUSP14	psi-mi:“MI:0914”(association)	0.350
IAH1	IAH1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Two-hybrid), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Affinity Capture-MS), IAH1 (Proximity Label-MS), IAH1 (Affinity Capture-MS), IAH1 (Co-fractionation), IAH1 (Co-fractionation)

ESM2 similar proteins: A4II73, A5WVX1, A6QLY4, O16216, O18391, O55137, O55171, P34913, P80299, Q07G10, Q0C7C4, Q0J7N5, Q0V9K2, Q18169, Q29LW1, Q2TAA2, Q2TAP9, Q3SZ07, Q3SZ16, Q3SZ73, Q3ZC52, Q503Y4, Q5JUR7, Q5RCH4, Q5RDV8, Q61YZ4, Q653S9, Q6AXU8, Q6I7R3, Q6ING7, Q6Q2C2, Q711G3, Q7QBJ0, Q7ZY31, Q80UN9, Q8BVH9, Q8HY87, Q8R123, Q8VDG5, Q8WZ82

Diamond homologs: O80443, P41734, Q2TAA2, Q3SZ16, Q503L4, Q6NMR9, Q711G3, Q7XXR3, Q9DB29, Q9FM04, Q9SRM5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	51
Likely benign	10
Benign	4

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	Pathogenic
1925904	NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)	Pathogenic
3068447	Single allele	Pathogenic

SpliceAI

1535 predictions. Top by Δscore:

Variant	Effect	Δscore
2:9481283:CA:C	acceptor_loss	1.0000
2:9481284:AGA:A	acceptor_loss	1.0000
2:9481285:GATGA:G	acceptor_gain	1.0000
2:9481444:CAAGG:C	donor_loss	1.0000
2:9481445:AAGG:A	donor_loss	1.0000
2:9481446:AGGT:A	donor_loss	1.0000
2:9481448:G:C	donor_loss	1.0000
2:9481449:T:A	donor_loss	1.0000
2:9484426:CAATA:C	acceptor_loss	1.0000
2:9484427:A:AG	acceptor_gain	1.0000
2:9484428:ATAGG:A	acceptor_loss	1.0000
2:9484429:TAGGT:T	acceptor_loss	1.0000
2:9484430:A:AG	acceptor_gain	1.0000
2:9484431:G:GG	acceptor_gain	1.0000
2:9484431:GGTT:G	acceptor_gain	1.0000
2:9484546:GCCAG:G	donor_gain	1.0000
2:9484548:CAG:C	donor_loss	1.0000
2:9484549:AGG:A	donor_loss	1.0000
2:9484550:GGTA:G	donor_loss	1.0000
2:9484552:T:G	donor_loss	1.0000
2:9490515:CGTT:C	acceptor_gain	1.0000
2:9490517:TT:T	acceptor_gain	1.0000
2:9490517:TTC:T	acceptor_loss	1.0000
2:9490518:TC:T	acceptor_loss	1.0000
2:9490519:C:CC	acceptor_gain	1.0000
2:9490520:T:A	acceptor_loss	1.0000
2:9492897:CCACA:C	donor_gain	1.0000
2:9492982:CTTTC:C	acceptor_gain	1.0000
2:9493743:CTA:C	donor_loss	1.0000
2:9493744:TACCA:T	donor_loss	1.0000

AlphaMissense

1607 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:9474631:G:T	G22V	0.978
2:9478242:G:C	R52P	0.976
2:9476008:T:A	W35R	0.975
2:9476008:T:C	W35R	0.975
2:9474630:G:T	G22W	0.973
2:9475993:T:C	F30L	0.970
2:9475995:C:A	F30L	0.970
2:9475995:C:G	F30L	0.970
2:9481334:T:C	L111P	0.970
2:9478355:G:C	D90H	0.969
2:9474631:G:A	G22E	0.967
2:9478233:T:A	V49D	0.967
2:9478356:A:C	D90A	0.964
2:9478357:C:A	D90E	0.963
2:9478357:C:G	D90E	0.963
2:9488192:G:T	G204W	0.963
2:9478358:A:C	S91R	0.960
2:9478360:T:A	S91R	0.960
2:9478360:T:G	S91R	0.960
2:9488217:T:C	L212P	0.960
2:9476010:G:C	W35C	0.959
2:9476010:G:T	W35C	0.959
2:9478356:A:T	D90V	0.959
2:9488177:C:G	H199D	0.959
2:9478241:C:A	R52S	0.958
2:9474634:A:T	D23V	0.957
2:9478261:T:A	N58K	0.956
2:9478261:T:G	N58K	0.956
2:9478222:A:C	R45S	0.953
2:9478222:A:T	R45S	0.953

dbSNP variants (sampled 300 via entrez): RS1000161658 (2:9483108 T>C), RS1000267267 (2:9475089 C>T), RS1000305242 (2:9472393 T>C), RS1000345779 (2:9486482 CGAA>C), RS1000351480 (2:9504245 G>A), RS1000365431 (2:9501595 A>G), RS1000376624 (2:9501303 A>G), RS1000642804 (2:9507585 C>A,T), RS1000740160 (2:9498527 G>A), RS1000874276 (2:9512658 G>A,C), RS1000903156 (2:9495435 G>A), RS1000964741 (2:9492137 CAG>C), RS1001077998 (2:9477030 C>T), RS1001160469 (2:9497867 G>A), RS1001386347 (2:9505365 T>A,C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614328, MIM:619876

GenCC curated gene-disease

Mondo (2): inflammatory skin and bowel disease, neonatal, 1 (MONDO:0013693), neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (MONDO:0859250)

Orphanet (1): Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome (Orphanet:294023)

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)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2276338	ADAM17, IAH1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	3
Smoke	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
3,19-(2-bromobenzylidene)andrographolide	decreases expression, decreases response to substance	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	decreases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
bisphenol B	increases expression	1
MRK 003	decreases expression	1
jinfukang	increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Coal	decreases expression, increases abundance	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Rotenone	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1ZQ	HAP1 IAH1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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