ACBD7

Summary

ACBD7 (acyl-CoA binding domain containing 7, HGNC:17715) is a protein-coding gene on chromosome 10p13, encoding Acyl-CoA-binding domain-containing protein 7 (Q8N6N7). Binds medium- and long-chain acyl-CoA esters.

Predicted to enable fatty-acyl-CoA binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within several processes, including energy homeostasis; leptin-mediated signaling pathway; and response to food.

Source: NCBI Gene 414149 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 32 total — 5 pathogenic
• MANE Select transcript: NM_001039844

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17715
Approved symbol	ACBD7
Name	acyl-CoA binding domain containing 7
Location	10p13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38219, bA455B2.2
Ensembl gene	ENSG00000176244
Ensembl biotype	protein_coding
Entrez	414149

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000356189, ENST00000496890

RefSeq mRNA: 1 — MANE Select: NM_001039844 NM_001039844

CCDS: CCDS31153

Canonical transcript exons

ENST00000356189 — 4 exons

Exon	Start	End
ENSE00001476652	15075475	15078603
ENSE00003565866	15078691	15078753
ENSE00003589761	15088717	15088776
ENSE00003665787	15078923	15079040

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 94.10.

FANTOM5 (CAGE): breadth broad, TPM avg 8.1053 / max 918.6313, expressed in 770 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
108409	8.1053	770

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
caudate nucleus	UBERON:0001873	94.10	gold quality
putamen	UBERON:0001874	93.91	gold quality
ventricular zone	UBERON:0003053	93.87	gold quality
nucleus accumbens	UBERON:0001882	93.76	gold quality
amygdala	UBERON:0001876	93.54	gold quality
temporal lobe	UBERON:0001871	93.46	gold quality
primary visual cortex	UBERON:0002436	91.19	gold quality
anterior cingulate cortex	UBERON:0009835	90.10	gold quality
substantia nigra	UBERON:0002038	90.09	gold quality
right frontal lobe	UBERON:0002810	89.60	gold quality
Ammon’s horn	UBERON:0001954	89.39	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	89.29	gold quality
cerebral cortex	UBERON:0000956	88.69	gold quality
superior frontal gyrus	UBERON:0002661	88.64	gold quality
hypothalamus	UBERON:0001898	88.23	gold quality
frontal cortex	UBERON:0001870	87.88	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.42	gold quality
ganglionic eminence	UBERON:0004023	86.91	gold quality
prefrontal cortex	UBERON:0000451	86.58	gold quality
brain	UBERON:0000955	85.88	gold quality
corpus callosum	UBERON:0002336	82.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.84	gold quality
cerebellum	UBERON:0002037	79.02	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.02	gold quality
cerebellar cortex	UBERON:0002129	78.95	gold quality
cerebellar hemisphere	UBERON:0002245	78.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	73.01	gold quality
right uterine tube	UBERON:0001302	69.11	gold quality
testis	UBERON:0000473	66.72	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.84
E-MTAB-6678	no	3.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

104 targeting ACBD7, 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-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-6745	99.74	65.33	1321

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	acbd7	ENSDARG00000094730
mus_musculus	Acbd7	ENSMUSG00000026644
rattus_norvegicus	Acbd7	ENSRNOG00000071468
drosophila_melanogaster	Acbp1	FBGN0031992

Paralogs (4): ACBD5 (ENSG00000107897), DBI (ENSG00000155368), ACBD4 (ENSG00000181513), ECI2 (ENSG00000198721)

Protein

Protein identifiers

Acyl-CoA-binding domain-containing protein 7 — Q8N6N7 (reviewed: Q8N6N7)

All UniProt accessions (1): Q8N6N7

UniProt curated annotations — full annotation on UniProt →

Function. Binds medium- and long-chain acyl-CoA esters.

Similarity. Belongs to the ACBD7 family.

RefSeq proteins (1): NP_001034933* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000582	Acyl-CoA-binding_protein	Domain
IPR014352	FERM/acyl-CoA-bd_prot_sf	Homologous_superfamily
IPR035984	Acyl-CoA-binding_sf	Homologous_superfamily

Pfam: PF00887

UniProt features (13 total): helix 5, binding site 4, turn 2, chain 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3EPY	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N6N7-F1	92.95	0.91

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 (4): 15; 30–34; 56; 75

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 52 (showing top): GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, chr10p13, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, REACTOME_MITOCHONDRIAL_FATTY_ACID_BETA_OXIDATION, GOBP_FATTY_ACID_METABOLIC_PROCESS, GOMF_SULFUR_COMPOUND_BINDING, GOMF_AMIDE_BINDING, GOMF_LIPID_BINDING, GOMF_FATTY_ACID_DERIVATIVE_BINDING, REACTOME_METABOLISM_OF_LIPIDS, REACTOME_FATTY_ACID_METABOLISM, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, HMGA1_TARGET_GENES, PCGF1_TARGET_GENES

GO Biological Process (1): fatty acid metabolic process (GO:0006631)

GO Molecular Function (3): fatty-acyl-CoA binding (GO:0000062), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (0):

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
acyl-CoA binding	1
fatty acid derivative binding	1

Protein interactions and networks

STRING

703 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACBD7	ACBD5	Q5T8D3	460
ACBD7	ACBD3	Q9H3P7	448
ACBD7	LRRC66	Q68CR7	446
ACBD7	CD164L2	Q6UWJ8	425
ACBD7	CCER2	I3L3R5	418
ACBD7	TSPO	P30536	409
ACBD7	PRR20A	P86496	393
ACBD7	TRMT2B	Q96GJ1	385
ACBD7	PMP2	P02689	368
ACBD7	ZNF688	P0C7X2	367
ACBD7	TMEM151B	Q8IW70	364
ACBD7	GON7	Q9BXV9	350
ACBD7	DHRS7B	Q6IAN0	350
ACBD7	SUSD3	Q96L08	340
ACBD7	NDN	Q99608	333
ACBD7	ACBD6	Q9BR61	333

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ACBD7	TEPSIN	psi-mi:“MI:0915”(physical association)	0.560
MESD	ACBD7	psi-mi:“MI:0915”(physical association)	0.560
ACBD7	FYN	psi-mi:“MI:0914”(association)	0.350
ACBD7	SRC	psi-mi:“MI:0914”(association)	0.350
ACBD7	MESD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): OGDHL (Affinity Capture-MS), SRC (Affinity Capture-MS), ACOX1 (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS), PAG1 (Affinity Capture-MS), GNAZ (Affinity Capture-MS), TBC1D24 (Affinity Capture-MS), SUGP1 (Affinity Capture-MS), PTPRG (Affinity Capture-MS), YES1 (Affinity Capture-MS), FYN (Affinity Capture-MS), ACBD7 (Two-hybrid), ACBD7 (Two-hybrid), GNAZ (Affinity Capture-MS), HPCAL1 (Affinity Capture-MS)

ESM2 similar proteins: A1TN70, A1W917, A2SH97, A4G4S2, A6SZQ0, A9BMN1, B1MZ64, B1XXJ4, B2T5J3, B3R2B6, O01805, O04066, O09035, O22643, P07107, P07108, P0C8L7, P11030, P12026, P31786, P31787, P31824, P42281, P45883, P56702, P57752, P61867, P61868, P82934, Q0KA17, Q1H140, Q1LNF7, Q1QMN6, Q20507, Q2G8K9, Q39315, Q39779, Q3SZF0, Q470D8, Q47F91

Diamond homologs: A0FKI7, A2VDR2, A3AYR1, A7E2S9, O01805, O04066, O22643, O75521, P07106, P07107, P07108, P0C8L7, P11030, P12026, P31786, P31787, P31824, P42281, P45882, P45883, P57752, P61867, P61868, P82934, Q20507, Q2KHT9, Q39315, Q39779, Q3SZF0, Q4V869, Q4V8X4, Q502L1, Q54GC8, Q5FXM5, Q5R7P6, Q5R7V3, Q5RJK8, Q5T8D3, Q5VRM0, Q5XG73

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	14
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	Pathogenic
59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	Pathogenic
59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	Pathogenic
687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	Pathogenic
687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	Pathogenic

SpliceAI

587 predictions. Top by Δscore:

Variant	Effect	Δscore
10:15078921:A:AC	donor_gain	0.9900
10:15078922:C:CC	donor_gain	0.9900
10:15079037:CAGC:C	acceptor_gain	0.9900
10:15079041:C:A	acceptor_loss	0.9900
10:15079042:T:A	acceptor_loss	0.9900
10:15088712:GGTAC:G	donor_loss	0.9900
10:15088713:GTAC:G	donor_loss	0.9900
10:15088714:TACCT:T	donor_loss	0.9900
10:15088715:A:C	donor_loss	0.9900
10:15088716:CC:C	donor_loss	0.9900
10:15078917:TAATA:T	donor_loss	0.9800
10:15078919:ATACC:A	donor_loss	0.9800
10:15078920:TA:T	donor_loss	0.9800
10:15078921:A:G	donor_loss	0.9800
10:15078926:T:C	donor_gain	0.9800
10:15079036:TCAGC:T	acceptor_gain	0.9800
10:15079037:CAGCC:C	acceptor_gain	0.9800
10:15079041:C:CC	acceptor_gain	0.9800
10:15088719:G:A	donor_gain	0.9800
10:15078599:CAACC:C	acceptor_gain	0.9700
10:15078602:CC:C	acceptor_gain	0.9700
10:15078603:CC:C	acceptor_gain	0.9700
10:15081549:G:C	donor_gain	0.9700
10:15088711:GGGTA:G	donor_loss	0.9700
10:15078925:A:AC	donor_gain	0.9600
10:15079039:GC:G	acceptor_gain	0.9600
10:15079039:GCCT:G	acceptor_gain	0.9600
10:15079040:CC:C	acceptor_gain	0.9600
10:15079038:AGC:A	acceptor_gain	0.9400
10:15079038:AGCC:A	acceptor_gain	0.9400

AlphaMissense

570 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:15078951:T:A	K34N	0.942
10:15078951:T:G	K34N	0.942
10:15079032:A:C	F7L	0.933
10:15079032:A:T	F7L	0.933
10:15079034:A:G	F7L	0.933
10:15078947:C:G	A36P	0.906
10:15078706:A:G	W60R	0.890
10:15078706:A:T	W60R	0.890
10:15078709:C:G	A59P	0.885
10:15078586:C:G	A71P	0.882
10:15078562:C:G	A79P	0.876
10:15078716:T:A	K56N	0.876
10:15078716:T:G	K56N	0.876
10:15078552:A:G	L82P	0.870
10:15078952:T:A	K34I	0.863
10:15078948:T:A	Q35H	0.852
10:15078948:T:G	Q35H	0.852
10:15078704:C:A	W60C	0.840
10:15078704:C:G	W60C	0.840
10:15078952:T:G	K34T	0.828
10:15078577:C:G	A74P	0.812
10:15078585:G:T	A71E	0.808
10:15079022:C:G	A11P	0.800
10:15078956:A:C	Y33D	0.792
10:15078962:C:A	G31W	0.790
10:15078715:A:G	W57R	0.789
10:15078715:A:T	W57R	0.789
10:15078976:A:G	L26P	0.789
10:15078713:C:A	W57C	0.787
10:15078713:C:G	W57C	0.787

dbSNP variants (sampled 300 via entrez): RS1000098112 (10:15075989 A>C,G), RS1000310335 (10:15080938 G>C,T), RS1000514913 (10:15086819 C>A,G), RS1000530287 (10:15079426 C>G,T), RS1000598676 (10:15080578 T>C,G), RS1000924059 (10:15089432 C>A,T), RS1001148449 (10:15089837 G>A,C), RS1001231302 (10:15080561 C>A), RS1001274366 (10:15086584 A>G,T), RS1001659576 (10:15088616 C>T), RS1002205923 (10:15080867 T>G), RS1002353386 (10:15083624 G>T), RS1002417537 (10:15088770 G>A,C), RS1002540519 (10:15077351 A>C), RS1002606812 (10:15078316 C>A,T)

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

3 associations (top):

Study	Trait	p-value
GCST001762_800	Obesity-related traits	5.000000e-06
GCST002589_14	Hippocampal sclerosis	4.000000e-06
GCST008359_6	Response to cognitive-behavioural therapy in anxiety disorder	4.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004730	hormone measurement
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression	2
Acetaminophen	increases expression	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
quercitrin	increases expression	1
trichostatin A	affects expression	1
methylparaben	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
nickel sulfate	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Calcitriol	decreases expression, affects cotreatment	1
Copper	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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