ACCSL

Summary

ACCSL (1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like, HGNC:34391) is a protein-coding gene on chromosome 11p11.2, encoding Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 (Q4AC99).

Predicted to enable transaminase activity. Predicted to be involved in amino acid metabolic process.

Source: NCBI Gene 390110 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 91 total — 1 pathogenic
• MANE Select transcript: NM_001031854

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34391
Approved symbol	ACCSL
Name	1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like
Location	11p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000205126
Ensembl biotype	protein_coding
Entrez	390110

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000378832, ENST00000527145

RefSeq mRNA: 2 — MANE Select: NM_001031854 NM_001031854, NM_001363113

CCDS: CCDS41636

Canonical transcript exons

ENST00000378832 — 14 exons

Exon	Start	End
ENSE00001478892	44059838	44059977
ENSE00001478914	44050062	44050121
ENSE00001478916	44047981	44048540
ENSE00003489752	44052991	44053068
ENSE00003493368	44058546	44058699
ENSE00003494818	44053406	44053506
ENSE00003507044	44052662	44052759
ENSE00003510117	44055202	44055291
ENSE00003595394	44051653	44051719
ENSE00003620025	44056040	44056085
ENSE00003645274	44056185	44056326
ENSE00003658545	44050552	44050622
ENSE00003661166	44058317	44058459
ENSE00003665395	44051335	44051404

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 83.76.

Top tissues by expression

107 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	83.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	57.10	silver quality
monocyte	CL:0000576	56.76	gold quality
leukocyte	CL:0000738	56.01	gold quality
sural nerve	UBERON:0015488	41.33	gold quality
stromal cell of endometrium	CL:0002255	39.29	gold quality
bone marrow cell	CL:0002092	38.55	gold quality
granulocyte	CL:0000094	37.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
skin of leg	UBERON:0001511	37.15	silver quality
zone of skin	UBERON:0000014	36.53	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mucosa of stomach	UBERON:0001199	36.25	silver quality
bone marrow	UBERON:0002371	35.52	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
right coronary artery	UBERON:0001625	34.99	gold quality
descending thoracic aorta	UBERON:0002345	34.79	gold quality
placenta	UBERON:0001987	34.70	gold quality
testis	UBERON:0000473	34.42	gold quality
ectocervix	UBERON:0012249	34.42	silver quality
right testis	UBERON:0004534	34.37	silver quality
right uterine tube	UBERON:0001302	34.10	gold quality
left testis	UBERON:0004533	33.96	silver quality
smooth muscle tissue	UBERON:0001135	33.46	gold quality
muscle tissue	UBERON:0002385	33.43	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
cerebellar cortex	UBERON:0002129	32.27	gold quality
cerebellum	UBERON:0002037	32.24	gold quality
left uterine tube	UBERON:0001303	32.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.27

Regulation

Is transcription factor: no

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
mus_musculus	Accsl	ENSMUSG00000075023
drosophila_melanogaster	CG1640	FBGN0030478
drosophila_melanogaster	CG6321	FBGN0036117
caenorhabditis_elegans		WBGENE00009232
caenorhabditis_elegans		WBGENE00010984
caenorhabditis_elegans		WBGENE00011436
caenorhabditis_elegans	C32F10.8	WBGENE00016333

Paralogs (7): AADAT (ENSG00000109576), ACCS (ENSG00000110455), KYAT3 (ENSG00000137944), GPT2 (ENSG00000166123), GPT (ENSG00000167701), KYAT1 (ENSG00000171097), TAT (ENSG00000198650)

Protein

Protein identifiers

Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 — Q4AC99 (reviewed: Q4AC99)

All UniProt accessions (2): E9PI59, Q4AC99

UniProt curated annotations — full annotation on UniProt →

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

RefSeq proteins (2): NP_001027025, NP_001350042 (=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 (10 total): sequence conflict 6, chain 1, region of interest 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4AC99-F1	84.52	0.68

Functional residue map

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

Post-translational modifications (1): 395

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_NITROGENOUS_GROUPS, GOMF_VITAMIN_BINDING, YOSHIMURA_MAPK8_TARGETS_UP, MIKKELSEN_MCV6_ICP_WITH_H3K27ME3, GOMF_VITAMIN_B6_BINDING, GSE10094_LCMV_VS_LISTERIA_IND_EFF_CD4_TCELL_DN, GSE11924_TH2_VS_TH17_CD4_TCELL_UP, GSE14350_IL2RB_KO_VS_WT_TREG_UP, GSE18148_CBFB_KO_VS_WT_TREG_DN, GOMF_TRANSAMINASE_ACTIVITY, GSE39820_TGFBETA1_VS_TGFBETA3_IN_IL6_IL23A_TREATED_CD4_TCELL_UP, GSE2585_CD80_HIGH_VS_LOW_AIRE_KO_MTEC_DN, GSE4811_CLASSSICALY_ACTIVATED_VS_TYPE_2_ACTIVATED_MACROPHAGE_UP, GSE5503_LIVER_DC_VS_MLN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, GSE21670_UNTREATED_VS_TGFB_TREATED_CD4_TCELL_UP

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

GO Molecular Function (2): transaminase activity (GO:0008483), pyridoxal phosphate binding (GO:0030170)

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 interactions and networks

STRING

1369 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACCSL	OR51B2	Q9Y5P1	418
ACCSL	DEFB112	Q30KQ8	412
ACCSL	ST8SIA3	O43173	411
ACCSL	SLC15A5	A6NIM6	400
ACCSL	TMEM255B	Q8WV15	395
ACCSL	DMRTC2	Q8IXT2	394
ACCSL	WDR38	Q5JTN6	381
ACCSL	AIPL1	Q9NZN9	379
ACCSL	BTG4	Q9NY30	377
ACCSL	PATL2	C9JE40	369
ACCSL	AASDH	Q4L235	353
ACCSL	ALDH18A1	P54886	352
ACCSL	TCF23	Q7RTU1	346
ACCSL	ASB9	Q96DX5	342
ACCSL	MOCOS	Q96EN8	340

IntAct

0 interactions, top by confidence:

BioGRID (2): ACCSL (Synthetic Lethality), ACCSL (Affinity Capture-MS)

ESM2 similar proteins: A0A1L1SUL6, F1LQY6, O35465, O43379, O75293, O88910, O88954, P0C0T1, P21964, P22339, P41214, P50747, Q13368, Q13572, Q14318, Q16342, Q1HAQ0, Q28955, Q2T9Z1, Q3B7U9, Q3TFD2, Q3TMX7, Q496Y0, Q4AC99, Q5BIM1, Q5E9A5, Q5R812, Q5RA63, Q5SZD4, Q64311, Q6DC64, Q6P5G6, Q6PFY8, Q80YV4, Q8BNV1, Q8BYN3, Q8NFZ0, Q8R1C6, Q8R1T1, Q8TCU6

Diamond homologs: A0A0P0UZP7, A0A0P0WIY3, A2XLL2, P18485, P23279, P23599, P27486, P29535, P31531, P36692, P37821, Q00257, Q00379, Q01912, Q03VY3, Q06402, Q06429, Q07262, Q0CS62, Q10DK7, Q37001, Q42881, Q43309, Q4AC99, Q5W6F9, Q6Q887, Q7XQ85, Q8GYY0, Q9LQ10, Q9M2Y8, Q9MB95, Q9S9U6, Q9SAR0, Q9SNN8, Q9STR4, Q9T065, A2AIG8, Q3UX83, Q5E9H2, Q96QU6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	82
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	Pathogenic

SpliceAI

1732 predictions. Top by Δscore:

Variant	Effect	Δscore
11:44050119:AGA:A	donor_gain	1.0000
11:44050120:GA:G	donor_gain	1.0000
11:44050120:GAG:G	donor_gain	1.0000
11:44050122:G:GG	donor_gain	1.0000
11:44050127:G:GT	donor_gain	1.0000
11:44050550:A:AG	acceptor_gain	1.0000
11:44050551:G:GG	acceptor_gain	1.0000
11:44050623:G:GG	donor_gain	1.0000
11:44051647:CTTCA:C	acceptor_loss	1.0000
11:44051648:TTCAG:T	acceptor_loss	1.0000
11:44051649:TCAG:T	acceptor_loss	1.0000
11:44051650:CA:C	acceptor_loss	1.0000
11:44051716:GGCG:G	donor_gain	1.0000
11:44051717:GCGG:G	donor_gain	1.0000
11:44052987:CCAG:C	acceptor_loss	1.0000
11:44052988:CA:C	acceptor_loss	1.0000
11:44052989:A:AC	acceptor_loss	1.0000
11:44052989:A:AG	acceptor_gain	1.0000
11:44052990:G:GG	acceptor_gain	1.0000
11:44052990:G:GT	acceptor_loss	1.0000
11:44052990:GGT:G	acceptor_gain	1.0000
11:44052990:GGTC:G	acceptor_gain	1.0000
11:44052990:GGTCA:G	acceptor_gain	1.0000
11:44053068:GGTAA:G	donor_loss	1.0000
11:44053070:T:G	donor_loss	1.0000
11:44053401:CTTA:C	acceptor_loss	1.0000
11:44053402:TTA:T	acceptor_loss	1.0000
11:44053404:A:AG	acceptor_gain	1.0000
11:44053404:AGG:A	acceptor_gain	1.0000
11:44053405:G:A	acceptor_loss	1.0000

AlphaMissense

3756 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:44050612:G:A	G209R	0.947
11:44050612:G:C	G209R	0.947
11:44050612:G:T	G209W	0.947
11:44058657:T:C	F528L	0.944
11:44058659:C:A	F528L	0.944
11:44058659:C:G	F528L	0.944
11:44051660:T:A	V238D	0.935
11:44050613:G:A	G209E	0.927
11:44053496:T:C	F347L	0.921
11:44053498:T:A	F347L	0.921
11:44053498:T:G	F347L	0.921
11:44051340:G:C	R214P	0.917
11:44056219:T:C	L407P	0.917
11:44058669:T:C	F532L	0.904
11:44058671:T:A	F532L	0.904
11:44058671:T:G	F532L	0.904
11:44051654:T:A	V236E	0.903
11:44055248:T:C	F366L	0.903
11:44055250:T:A	F366L	0.903
11:44055250:T:G	F366L	0.903
11:44051351:G:C	A218P	0.900
11:44051357:T:C	F220L	0.897
11:44051359:C:A	F220L	0.897
11:44051359:C:G	F220L	0.897
11:44056219:T:G	L407R	0.890
11:44056295:G:C	Q432H	0.890
11:44056295:G:T	Q432H	0.890
11:44058412:T:C	F475L	0.879
11:44058414:T:A	F475L	0.879
11:44058414:T:G	F475L	0.879

dbSNP variants (sampled 300 via entrez): RS1000021892 (11:44020252 A>G), RS1000031004 (11:44007918 TA>T), RS1000034707 (11:43927272 G>A), RS1000042761 (11:43982532 C>T), RS1000043997 (11:44048836 G>A,C), RS1000142690 (11:44055347 G>C), RS1000158543 (11:43956070 C>A,T), RS1000179390 (11:44038372 A>T), RS1000186486 (11:43919366 C>G,T), RS1000245668 (11:43965369 A>C), RS1000305145 (11:43925221 C>T), RS1000307409 (11:44026745 T>C), RS1000329059 (11:43952605 C>T), RS1000332301 (11:43952104 T>C), RS1000336354 (11:43945317 G>A)

Disease associations

OMIM: gene `` | 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
GCST007096_12	Pulse pressure	1.000000e-09
GCST007269_196	Pulse pressure	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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