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 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 109 total — 4 pathogenic, 2 likely-pathogenic
• GTEx eGene: eQTL in 49 tissues, sQTL in 48 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.90 (unconstrained)
• MANE Select transcript: NM_032592
• Notable: 109 clinical variants but no curated precision-oncology (CIViC) evidence yet

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: 42 — 20 nonsense_mediated_decay, 12 protein_coding, 9 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000263776

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 7, TSL 4: 1, TSL 5: 1

ENST00000263776, ENST00000524990, ENST00000526577, ENST00000527346, ENST00000527557, ENST00000527603, ENST00000531190, ENST00000531505, ENST00000531940, ENST00000532122, ENST00000533208, ENST00000533404, ENST00000534035, ENST00000894381, ENST00000894382, ENST00000894383, ENST00000894384, ENST00000964372, ENST00000964373, ENST00000995808, ENST00000995809, ENST00000995810, ENST00000995811, ENST00000995812, ENST00000995813, ENST00000995814, ENST00001038637, ENST00001038638, ENST00001038639, ENST00001038640, ENST00001038641, ENST00001038642, ENST00001038643, ENST00001038644, ENST00001038645, ENST00001038646, ENST00001038647, ENST00001038648, ENST00001058055, ENST00001112531, ENST00001120416, ENST00001141289

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.

Highest expression (Bgee): uterine tube, adrenal gland cortex, granulocyte, adrenal gland, body of uterus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ACCS is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 49 tissues and its splicing (sQTL) in 48 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 97 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	5.6e-182	+1.47	11:44066439:G:T
Cells Cultured fibroblasts	eqtl	1.2e-134	+0.85	11:44066439:G:T
Thyroid	sqtl	1.9e-132	-1.35	11:44081529:A:T
Adipose Subcutaneous	sqtl	1.7e-123	-1.30	11:44081529:A:T
Nerve Tibial	sqtl	3.5e-121	-1.31	11:44081529:A:T
Thyroid	eqtl	1.3e-112	+1.16	11:44066439:G:T
Skin Sun Exposed Lower leg	sqtl	1.8e-107	-1.21	11:44083335:T:G
Skin Sun Exposed Lower leg	eqtl	1.1e-101	+1.06	11:44066439:G:T
Esophagus Mucosa	eqtl	4.3e-101	+1.15	11:44066439:G:T
Lung	sqtl	7.6e-94	-1.29	11:44081529:A:T
Skin Not Sun Exposed Suprapubic	eqtl	6.3e-91	+1.19	11:44066439:G:T
Adipose Subcutaneous	eqtl	7.8e-91	+1.03	11:44066439:G:T
Artery Tibial	sqtl	3.9e-90	+1.20	11:44081529:A:T
Skin Not Sun Exposed Suprapubic	sqtl	1.7e-87	-1.22	11:44081529:A:T
Adipose Visceral Omentum	sqtl	4.0e-83	+1.22	11:44081529:A:T
Breast Mammary Tissue	sqtl	6.2e-83	-1.23	11:44082189:GAGTGTAAGT:G
Lung	eqtl	5.0e-79	+1.07	11:44066439:G:T
Artery Aorta	sqtl	2.3e-78	+1.33	11:44083335:T:G
Muscle Skeletal	eqtl	1.5e-77	+0.82	11:44066439:G:T
Nerve Tibial	eqtl	4.7e-75	+1.05	11:44066439:G:T

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

showing 100 of 244 tissues 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
subcutaneous adipose tissue	UBERON:0002190	91.93	gold quality
ascending aorta	UBERON:0001496	91.81	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.79	gold quality
thoracic aorta	UBERON:0001515	91.78	gold quality
descending thoracic aorta	UBERON:0002345	91.65	gold quality
sural nerve	UBERON:0015488	91.58	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.36	gold quality
lower esophagus	UBERON:0013473	91.33	gold quality
aorta	UBERON:0000947	91.16	gold quality
pituitary gland	UBERON:0000007	91.12	gold quality
adenohypophysis	UBERON:0002196	90.90	gold quality
popliteal artery	UBERON:0002250	90.88	gold quality
tibial artery	UBERON:0007610	90.88	gold quality
upper lobe of left lung	UBERON:0008952	90.77	gold quality
ectocervix	UBERON:0012249	90.76	gold quality
saliva-secreting gland	UBERON:0001044	90.70	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.64	gold quality
transverse colon	UBERON:0001157	90.62	gold quality
pancreatic ductal cell	CL:0002079	90.55	silver quality
buccal mucosa cell	CL:0002336	90.48	silver quality
stomach	UBERON:0000945	90.39	gold quality
small intestine	UBERON:0002108	90.37	gold quality
omental fat pad	UBERON:0010414	90.35	gold quality
peritoneum	UBERON:0002358	90.30	gold quality
rectum	UBERON:0001052	90.18	gold quality
skin of leg	UBERON:0001511	90.15	gold quality
mouth mucosa	UBERON:0003729	90.11	gold quality
left coronary artery	UBERON:0001626	90.09	gold quality
skin of abdomen	UBERON:0001416	89.95	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.86	gold quality
stromal cell of endometrium	CL:0002255	89.68	gold quality
smooth muscle tissue	UBERON:0001135	89.56	gold quality
coronary artery	UBERON:0001621	89.46	gold quality
tendon of biceps brachii	UBERON:0008188	89.43	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	89.35	gold quality
ovary	UBERON:0000992	89.24	gold quality
right testis	UBERON:0004534	89.09	gold quality
fundus of stomach	UBERON:0001160	89.04	gold quality
left testis	UBERON:0004533	88.83	gold quality
cortex of kidney	UBERON:0001225	88.70	gold quality
adipose tissue	UBERON:0001013	88.41	gold quality
esophagus	UBERON:0001043	88.40	gold quality
uterine cervix	UBERON:0000002	88.24	gold quality
zone of skin	UBERON:0000014	88.08	gold quality
adrenal tissue	UBERON:0018303	87.75	gold quality
right atrium auricular region	UBERON:0006631	87.53	gold quality
upper lobe of lung	UBERON:0008948	87.52	gold quality
vagina	UBERON:0000996	87.34	gold quality
prostate gland	UBERON:0002367	87.24	gold quality
monocyte	CL:0000576	87.22	gold quality
fallopian tube	UBERON:0003889	86.91	gold quality
intestine	UBERON:0000160	86.89	gold quality
testis	UBERON:0000473	86.70	gold quality
colon	UBERON:0001155	86.64	gold quality
leukocyte	CL:0000738	86.63	gold quality
upper arm skin	UBERON:0004263	86.63	gold quality
cardiac atrium	UBERON:0002081	86.15	gold quality
esophagus mucosa	UBERON:0002469	86.15	gold quality
metanephros	UBERON:0000081	85.97	gold quality
large intestine	UBERON:0000059	85.89	gold quality
tibia	UBERON:0000979	85.56	gold quality
myometrium	UBERON:0001296	85.49	gold quality
urinary bladder	UBERON:0001255	85.36	gold quality
uterus	UBERON:0000995	85.28	gold quality
liver	UBERON:0002107	85.24	gold quality
pancreas	UBERON:0001264	85.07	gold quality
vermiform appendix	UBERON:0001154	84.97	gold quality
lymph node	UBERON:0000029	84.90	gold quality
female reproductive system	UBERON:0000474	84.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.88	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

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	17.2
Spleen	tissue	12.8	high
Pituitary gland	tissue	10.4
Gallbladder	tissue	9.5	medium
Bone marrow	tissue	9.5	low
Fallopian tube	tissue	9.4	medium
Endometrium 1	tissue	9.0	medium
Salivary gland	tissue	8.6	low
Stomach 1	tissue	8.1	medium
Ovary	tissue	8.1	medium
Liver	tissue	8.1	medium
Adrenal gland	tissue	8.1	low
Lung	tissue	7.9	medium
Vagina	tissue	7.7	low
Epididymis	tissue	7.6	medium
Spinal cord	tissue	7.4
Prostate	tissue	7.2	medium
Thyroid gland	tissue	7.0	low
Hypothalamus	tissue	6.9
Skin 1	tissue	6.6	low
Rectum	tissue	6.5	low
Small intestine	tissue	6.5	medium
Periaqueductal gray	tissue	6.5
Substantia nigra	tissue	6.4
Adipose tissue	tissue	6.0	medium
Tonsil	tissue	6.0	high
Seminal vesicle	tissue	5.9	medium
Smooth muscle	tissue	5.9	medium
Medulla oblongata	tissue	5.9
Pons	tissue	5.7
Locus coeruleus	tissue	5.7
Septum	tissue	5.3
Breast	tissue	5.2	low
Midbrain	tissue	5.2
Lymph node	tissue	5.1	high
Pancreas	tissue	5.1	medium
Thalamus	tissue	5.1
Duodenum	tissue	5.1	medium
Colon	tissue	5.0	medium
Nucleus accumbens	tissue	5.0
Hippocampus	tissue	4.9	medium
Cervix	tissue	4.6	low
Superior colliculi	tissue	4.5
Hippocampal formation	tissue	4.5
Amygdala	tissue	4.4
Kidney	tissue	4.4	medium
Cerebral cortex	tissue	4.3	medium
Insular cortex	tissue	4.3
Urinary bladder	tissue	4.2	medium
Motor cortex	tissue	4.2
Corpus callosum	tissue	4.2
Ventral forebrain	tissue	4.1
Basal ganglia	tissue	4.0	medium
Esophagus	tissue	3.9	not detected
Entorhinal cortex	tissue	3.9
Prefrontal cortex	tissue	3.8
Thymus	tissue	3.8
Retrosplenial and cingulate cortex	tissue	3.8
Retrosplenial cortex	tissue	3.8
Temporal cortex	tissue	3.7

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Blood vessel (10.9), Dorsal spinal cord (7.4), Ventral spinal cord (6.8), Arcuate nucleus (6.6), Centromedial thalamic nucleus (6.6).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ACCS by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

7 miRNAs:

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

Functional genomics

gnomAD constraint: pLI 7.8e-11, LOEUF 0.899, missense Z 0.791 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000263776 — one region, missense o/e 0.95.

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	accs	ENSDARG00000052124
mus_musculus	Accs	ENSMUSG00000040272
rattus_norvegicus	Accs	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)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Oryza sativa Indica Group	A2XLL2	100.0%	Diamond
Oryza sativa Japonica Group	Q10DK7	100.0%	Diamond
Cucurbita pepo	P23279	96.6%	Diamond
Cucurbita maxima	P23599	96.6%	Diamond
Vigna radiata var. radiata	Q01912	92.4%	Diamond
Arabidopsis thaliana	Q37001	91.7%	Diamond
Streptomyces griseus	P36692	91.6%	Diamond
Solanum lycopersicum	P18485	88.3%	Diamond
Nicotiana tabacum	Q07262	88.3%	Diamond
Bos taurus	Q5E9H2	83.9%	Diamond
Malus domestica	P37821	74.9%	Diamond
Prunus mume	Q9MB95	69.8%	Diamond
Aspergillus terreus NIH2624	Q0CS62	69.2%	Diamond
Dianthus caryophyllus	P27486	66.3%	Diamond
Saccharomyces cerevisiae S288C	P52893	65.2%	Diamond
Takifugu rubripes	Q9W698	58.0%	Diamond
Aspergillus fumigatus Af293	Q4WMJ9	37.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
EXT2	protein-coding	2132
ALX4	protein-coding	60529
ALKBH3-AS1	ncRNA	100507300
ALKBH3	protein-coding	221120
C11orf96	protein-coding	387763
ACCSL	protein-coding	390110

Protein

Protein identifiers

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

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

Predicted structure (AlphaFold)

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

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus

Antibody reliability (HPA): IH approved · IF approved

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)

Position	Role
105	substrate

Post-translational modifications (1)

Type	Positions
N6-(pyridoxal phosphate)lysine	323

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

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 top-level categories

7 GO namespaces:

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

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 6 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
identical protein binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 873 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACCS	ODF1	Q14990	387
ACCS	AASDH	Q4L235	368
ACCS	EXT2	Q93063	351
ACCS	ST6GAL1	P15907	346
ACCS	HORMAD2	Q8N7B1	342
ACCS	AACS	Q86V21	334
ACCS	GASK1B	Q6UWH4	328
ACCS	RALGPS1	Q5JS13	312
ACCS	CLLU1-AS1	Q5K130	305
ACCS	TNFSF13	O75888	303
ACCS	KLF10	Q13118	303
ACCS	SPATA4	Q8NEY3	302
ACCS	PYROXD2	Q8N2H3	301
ACCS	SLC10A7	Q0GE19	292
ACCS	IFNE	Q86WN2	288

IntAct

Human interaction partners of ACCS in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

3 partners by confidence:

Partner	Interaction type	MIscore	Records
UQCRB	physical association	0.560	3
CFTR	physical association	0.370	3
FBF1	physical association	0.370	1

BioGRID (14 interactions; top human partners by supporting records): GNPDA1 (Affinity Capture-MS; 2 records), ANLN (Affinity Capture-MS), AURKB (Affinity Capture-MS), CFTR (PCA), DDX39A (Affinity Capture-RNA), ECT2 (Affinity Capture-MS), FBF1 (Two-hybrid), KIF23 (Affinity Capture-MS), UQCRB (Two-hybrid), WSB1 (Affinity Capture-MS)

Disease & clinical

Genetic variants

Variant evidence for ACCS: 109 ClinVar records (6 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

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)

Showing all 6 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
3391913	GRCh37/hg19 11p13-11.2(chr11:36161425-45287380)x1	Pathogenic	criteria provided, single submitter	1
146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	Pathogenic	no assertion criteria provided	1
154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	Pathogenic	no assertion criteria provided	1
154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	Pathogenic	no assertion criteria provided	1
149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	Likely pathogenic	no assertion criteria provided	1
150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ACCS’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 1,580):

Position(s)	Effect	Δscore	Sites
11:44067887	donor_gain	1.0000
11:44067916	donor_loss	1.0000
11:44079621–44079622	donor_loss	1.0000	5
11:44067916–44067917	donor_loss	0.9900	4
11:44071254–44071255	acceptor_loss	0.9900	6
11:44073445–44073446	acceptor_loss	0.9900	6
11:44078558	acceptor_gain	0.9900
11:44079518	acceptor_gain	0.9900
11:44079529–44079530	acceptor_loss	0.9900	6
11:44083312–44083313	donor_loss	0.9900	6

AlphaMissense

781 missense substitutions predicted likely pathogenic (of 3,285 scored), across 243 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D324	8	0.933	0.979
D286	8	0.906	0.956
N258	8	0.889	0.975
N106	8	0.887	0.976
H316	8	0.883	0.951
F275	8	0.834	0.959
F325	8	0.822	0.923
H282	8	0.745	0.892
W319	7	0.904	0.986
W372	7	0.892	0.955
F456	7	0.890	0.976
F227	7	0.885	0.954
W455	7	0.884	0.953
E287	7	0.879	0.980
F448	7	0.869	0.975
F460	7	0.869	0.976
F294	7	0.863	0.968
F148	7	0.854	0.954
W413	7	0.853	0.979
E428	7	0.830	0.906

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	6.51e-10
Glioblastoma Multiforme (TCGA)	unfavorable	0.000162
Lung Adenocarcinoma (TCGA)	favorable	0.000648

Disease associations

OMIM: gene MIM:608405 | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST002943_3	IgA nephropathy	4e-9

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

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	affects expression, affects cotreatment, increases expression	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)

Via MONDO — disease-level, not drug-specific.