ACCS

Summary

ACCS (1-aminocyclopropane-1-carboxylate synthase homolog (inactive), HGNC:23989) is a protein-coding gene on chromosome 11p11.2, encoding 1-aminocyclopropane-1-carboxylate synthase-like protein 1 (Q96QU6). Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine.

Enables identical protein binding activity. Predicted to be involved in amino acid metabolic process.

Source: NCBI Gene 84680 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 109 total — 4 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_032592

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23989
Approved symbol	ACCS
Name	1-aminocyclopropane-1-carboxylate synthase homolog (inactive)
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Aliases	PHACS, ACS
Ensembl gene	ENSG00000110455
Ensembl biotype	protein_coding
OMIM	608405
Entrez	84680

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 9 protein_coding, 9 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000263776, ENST00000524990, ENST00000526577, ENST00000527346, ENST00000527557, ENST00000527603, ENST00000531190, ENST00000531505, ENST00000531940, ENST00000532122, ENST00000533208, ENST00000533404, ENST00000534035, ENST00000894381, ENST00000894382, ENST00000894383, ENST00000894384, ENST00000964372, ENST00000964373

RefSeq mRNA: 2 — MANE Select: NM_032592 NM_001127219, NM_032592

CCDS: CCDS7907

Canonical transcript exons

ENST00000263776 — 15 exons

Exon	Start	End
ENSE00001596902	44078684	44078784
ENSE00001677406	44077845	44077922
ENSE00001801286	44079531	44079620
ENSE00002176530	44066270	44066701
ENSE00002200241	44083695	44084237
ENSE00003476186	44083424	44083577
ENSE00003496594	44077279	44077376
ENSE00003538431	44083169	44083311
ENSE00003565390	44075526	44075592
ENSE00003581238	44081179	44081320
ENSE00003591716	44071256	44071315
ENSE00003599236	44081020	44081065
ENSE00003622939	44067628	44067915
ENSE00003634399	44074612	44074681
ENSE00003785634	44073447	44073517

Expression profiles

Bgee: expression breadth ubiquitous, 188 present calls, max score 98.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1679 / max 100.8374, expressed in 1662 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113979	2.5069	1017
113977	2.3559	1145
113975	1.8357	899
113978	0.9687	477
113976	0.5007	280

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.28	gold quality
right adrenal gland cortex	UBERON:0035827	96.53	gold quality
granulocyte	CL:0000094	96.23	gold quality
right adrenal gland	UBERON:0001233	95.63	gold quality
left uterine tube	UBERON:0001303	94.84	gold quality
body of uterus	UBERON:0009853	94.49	gold quality
left adrenal gland	UBERON:0001234	94.17	gold quality
left adrenal gland cortex	UBERON:0035825	94.12	gold quality
right lobe of thyroid gland	UBERON:0001119	93.96	gold quality
mucosa of stomach	UBERON:0001199	93.73	gold quality
right lobe of liver	UBERON:0001114	93.69	gold quality
apex of heart	UBERON:0002098	93.69	gold quality
gall bladder	UBERON:0002110	93.51	gold quality
adrenal cortex	UBERON:0001235	93.49	gold quality
left lobe of thyroid gland	UBERON:0001120	93.32	gold quality
nerve	UBERON:0001021	93.20	gold quality
tibial nerve	UBERON:0001323	93.20	gold quality
right ovary	UBERON:0002118	93.06	gold quality
right coronary artery	UBERON:0001625	92.85	gold quality
spleen	UBERON:0002106	92.84	gold quality
left ovary	UBERON:0002119	92.83	gold quality
thyroid gland	UBERON:0002046	92.82	gold quality
body of pancreas	UBERON:0001150	92.70	gold quality
minor salivary gland	UBERON:0001830	92.58	gold quality
metanephros cortex	UBERON:0010533	92.57	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.52	gold quality
body of stomach	UBERON:0001161	92.46	gold quality
adrenal gland	UBERON:0002369	92.46	gold quality
right lung	UBERON:0002167	92.35	gold quality
endocervix	UBERON:0000458	92.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting ACCS, 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-6845-3P	99.94	66.88	1439
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-7975	95.04	66.76	516

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	accs	ENSDARG00000052124
mus_musculus	Accs	ENSMUSG00000040272
rattus_norvegicus	Accsl	ENSRNOG00000042533
drosophila_melanogaster	CG1640	FBGN0030478
drosophila_melanogaster	CG6321	FBGN0036117
caenorhabditis_elegans		WBGENE00009232
caenorhabditis_elegans		WBGENE00010984
caenorhabditis_elegans	C32F10.8	WBGENE00016333

Paralogs (7): AADAT (ENSG00000109576), KYAT3 (ENSG00000137944), GPT2 (ENSG00000166123), GPT (ENSG00000167701), KYAT1 (ENSG00000171097), TAT (ENSG00000198650), ACCSL (ENSG00000205126)

Protein

Protein identifiers

1-aminocyclopropane-1-carboxylate synthase-like protein 1 — Q96QU6 (reviewed: Q96QU6)

All UniProt accessions (5): Q96QU6, A0A0S2Z5S5, A0A0S2Z622, E9PRT9, E9PS61

UniProt curated annotations — full annotation on UniProt →

Function. Does not catalyze the synthesis of 1-aminocyclopropane-1-carboxylate but is capable of catalyzing the deamination of L-vinylglycine.

Similarity. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96QU6-1	1	yes
Q96QU6-2	2

RefSeq proteins (2): NP_001120691, NP_115981* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004839	Aminotransferase_I/II_large	Domain
IPR015421	PyrdxlP-dep_Trfase_major	Homologous_superfamily
IPR015422	PyrdxlP-dep_Trfase_small	Homologous_superfamily
IPR015424	PyrdxlP-dep_Trfase	Homologous_superfamily
IPR050478	Ethylene_sulfur-biosynth	Family

Pfam: PF00155

UniProt features (14 total): sequence variant 5, sequence conflict 2, splice variant 2, chain 1, region of interest 1, compositionally biased region 1, binding site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96QU6-F1	86.63	0.78

Functional residue map

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

Ligand- & substrate-binding residues (1): 105

Post-translational modifications (1): 323

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 65 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_NITROGENOUS_GROUPS, GOMF_CARBON_SULFUR_LYASE_ACTIVITY, GOMF_VITAMIN_BINDING, BRUINS_UVC_RESPONSE_LATE, CSR_EARLY_UP.V1_DN, CSR_LATE_UP.V1_DN, GOMF_VITAMIN_B6_BINDING, BANP_TARGET_GENES, DIDO1_TARGET_GENES, E2F2_TARGET_GENES, GSE13547_WT_VS_ZFX_KO_BCELL_UP, ID1_TARGET_GENES, IRF5_TARGET_GENES

GO Biological Process (2): amino acid metabolic process (GO:0006520), biosynthetic process (GO:0009058)

GO Molecular Function (4): transaminase activity (GO:0008483), pyridoxal phosphate binding (GO:0030170), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	1
metabolic process	1
transferase activity, transferring nitrogenous groups	1
anion binding	1
vitamin B6 binding	1
protein binding	1
binding	1

Protein interactions and networks

STRING

1281 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACCS	ALDH5A1	P51649	400
ACCS	AASDH	Q4L235	353
ACCS	ALDH18A1	P54886	352
ACCS	H6PD	O95479	342
ACCS	CMAS	Q8NFW8	336
ACCS	ABHD12	Q8N2K0	325
ACCS	ALDH4A1	P30038	323
ACCS	ACSM2A	Q08AH3	312
ACCS	EPHX2	P34913	308
ACCS	COASY	Q13057	298
ACCS	PHB1	P35232	296
ACCS	PSAT1	Q9Y617	284
ACCS	BDH1	Q02338	270
ACCS	CCDC144A	A2RUR9	265
ACCS	SCAF1	Q9H7N4	260

IntAct

19 interactions, top by confidence:

A	B	Type	Score
ACCS	ACCS	psi-mi:“MI:0915”(physical association)	0.800
ACCS	UQCRB	psi-mi:“MI:0915”(physical association)	0.560
UQCRB	ACCS	psi-mi:“MI:0915”(physical association)	0.560
FBF1	ACCS	psi-mi:“MI:0915”(physical association)	0.370
ACCS	ACCS	psi-mi:“MI:0915”(physical association)	0.370
CFTR	ACCS	psi-mi:“MI:0915”(physical association)	0.370
GNPDA1	SEC31A	psi-mi:“MI:0914”(association)	0.350
ACCS	ACCS	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): ACCS (Two-hybrid), ACCS (Two-hybrid), ACCS (Two-hybrid), FBF1 (Two-hybrid), ACCS (Affinity Capture-MS), ACCS (Two-hybrid), ACCS (Affinity Capture-MS), ACCS (Affinity Capture-MS), ACCS (Affinity Capture-MS), ACCS (Affinity Capture-MS), ACCS (Affinity Capture-RNA), ACCS (Affinity Capture-MS), ACCS (PCA), ACCS (Affinity Capture-MS)

ESM2 similar proteins: A2AIG8, A6NFX1, O15315, O35083, O35719, O35790, O43502, O54783, O54804, O55229, O73884, P16442, P20417, P35790, P35821, P47802, Q01134, Q08DW9, Q27HK4, Q2TBS1, Q3T9M1, Q3U129, Q4R3I0, Q4R766, Q4R7M4, Q5E9H2, Q5E9T4, Q5SUV1, Q5SX19, Q5VYX0, Q6GV29, Q86XW9, Q8BVM4, Q8CIW5, Q8N2K0, Q8NBA8, Q8QGV6, Q8R2J9, Q8TCT0, Q924H5

Diamond homologs: A0A0P0UZP7, A0A0P0WIY3, A2AIG8, A2XLL2, P18485, P23279, P23599, P27486, P29535, P31531, P37821, Q00257, Q00379, Q01912, Q06402, Q06429, Q07262, Q0CS62, Q10DK7, Q37001, Q3UX83, Q42881, Q43309, Q4AC99, Q5E9H2, Q5W6F9, Q7XQ85, Q8GYY0, Q96QU6, Q9HUI9, Q9LQ10, Q9M2Y8, Q9MB95, Q9S9U6, Q9SAR0, Q9SNN8, Q9STR4, Q9T065, A4IFH5, P04694

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	2
Uncertain significance	81
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	Pathogenic
154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	Pathogenic
154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	Pathogenic
3391913	GRCh37/hg19 11p13-11.2(chr11:36161425-45287380)x1	Pathogenic
149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	Likely pathogenic
150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	Likely pathogenic

SpliceAI

2835 predictions. Top by Δscore:

Variant	Effect	Δscore
11:44067827:G:GT	donor_gain	1.0000
11:44067885:GGA:G	donor_gain	1.0000
11:44067887:A:G	donor_gain	1.0000
11:44067891:G:GG	donor_gain	1.0000
11:44067912:CAGT:C	donor_gain	1.0000
11:44067914:GT:G	donor_gain	1.0000
11:44067914:GTGTG:G	donor_loss	1.0000
11:44067916:G:GG	donor_gain	1.0000
11:44067916:GTGA:G	donor_loss	1.0000
11:44073445:A:AG	acceptor_gain	1.0000
11:44073446:G:GG	acceptor_gain	1.0000
11:44073515:GTT:G	donor_gain	1.0000
11:44073518:G:GG	donor_gain	1.0000
11:44074678:GAAT:G	donor_gain	1.0000
11:44074682:G:GG	donor_gain	1.0000
11:44079617:AAAGG:A	donor_loss	1.0000
11:44079618:AAG:A	donor_loss	1.0000
11:44079619:AG:A	donor_loss	1.0000
11:44079620:GGT:G	donor_loss	1.0000
11:44079621:GTGAG:G	donor_loss	1.0000
11:44079622:T:A	donor_loss	1.0000
11:44081352:G:GT	donor_gain	1.0000
11:44067886:GA:G	donor_gain	0.9900
11:44067887:A:AG	donor_gain	0.9900
11:44067901:G:GT	donor_gain	0.9900
11:44067911:CCAGT:C	donor_gain	0.9900
11:44067918:G:GC	donor_loss	0.9900
11:44067919:A:AA	donor_loss	0.9900
11:44071250:CTCCA:C	acceptor_loss	0.9900
11:44071251:TCCA:T	acceptor_loss	0.9900

AlphaMissense

3285 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:44081051:T:A	W319R	0.986
11:44081051:T:C	W319R	0.986
11:44071277:A:C	S104R	0.981
11:44071279:T:A	S104R	0.981
11:44071279:T:G	S104R	0.981
11:44079557:A:T	E287V	0.980
11:44078703:T:C	L251P	0.979
11:44081179:G:C	D324H	0.979
11:44083294:T:A	W413R	0.979
11:44083294:T:C	W413R	0.979
11:44081275:A:C	S356R	0.977
11:44081277:T:A	S356R	0.977
11:44081277:T:G	S356R	0.977
11:44071285:C:A	N106K	0.976
11:44071285:C:G	N106K	0.976
11:44083535:T:C	F456L	0.976
11:44083537:T:A	F456L	0.976
11:44083537:T:G	F456L	0.976
11:44083547:T:C	F460L	0.976
11:44083549:C:A	F460L	0.976
11:44083549:C:G	F460L	0.976
11:44078725:C:A	N258K	0.975
11:44078725:C:G	N258K	0.975
11:44079601:A:C	S302R	0.975
11:44079603:T:A	S302R	0.975
11:44079603:T:G	S302R	0.975
11:44081060:A:C	S322R	0.975
11:44081062:C:A	S322R	0.975
11:44081062:C:G	S322R	0.975
11:44083511:T:C	F448L	0.975

dbSNP variants (sampled 300 via entrez): RS1000157573 (11:44079179 A>G), RS1000340742 (11:44082413 C>T), RS1000341679 (11:44075848 C>T), RS1000371666 (11:44067538 G>T), RS1000403210 (11:44073159 T>C), RS1000594029 (11:44066163 G>A), RS1001161442 (11:44080401 C>G), RS1001446740 (11:44065910 T>G), RS1001614478 (11:44074482 C>T), RS1001770425 (11:44069300 A>C), RS1001806536 (11:44074402 T>C), RS1002013322 (11:44081185 G>A), RS1002320657 (11:44081974 C>T), RS1002343973 (11:44075824 T>A), RS1002403235 (11:44070246 C>G)

Disease associations

OMIM: gene MIM:608405 | 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
GCST002943_3	IgA nephropathy	4.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	3
Cisplatin	increases expression, affects expression, affects cotreatment	2
Nickel	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Valproic Acid	affects expression, decreases expression	2
bufotalin	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
ferrous chloride	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
jinfukang	affects cotreatment, 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	increases expression	1
Decitabine	affects expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	decreases expression	1
Thiram	decreases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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