ACSL5

acyl-CoA synthetase long chain family member 5, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 10:112374115-112428379

Previous symbols: [ "FACL5" ]

Links

ENSG00000197142 ∙ NCBI:51703 ∙ OMIM:605677 ∙ HGNC:16526 ∙ Uniprot:Q9ULC5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• diarrhea 13 (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACSL5 gene.

• Inborn genetic diseases (22 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSL5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			20	2	2	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	20	2	4

Variants in ACSL5

This is a list of pathogenic ClinVar variants found in the ACSL5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-112376317-C-T		not specified	Likely benign (Sep 14, 2022)
10-112376319-C-G		not specified	Uncertain significance (Mar 29, 2023)
10-112376345-C-A		not specified	Uncertain significance (Dec 13, 2023)
10-112376369-G-C		not specified	Uncertain significance (Jun 27, 2022)
10-112376374-C-T		not specified	Likely benign (Aug 08, 2022)
10-112394984-C-T		not specified	Uncertain significance (Nov 03, 2023)
10-112395065-C-A			Benign (May 09, 2018)
10-112395079-A-G		not specified	Uncertain significance (Sep 06, 2022)
10-112398947-G-C		not specified	Uncertain significance (Mar 14, 2023)
10-112404540-C-A		not specified	Uncertain significance (May 18, 2023)
10-112404741-T-G		not specified	Uncertain significance (Sep 06, 2022)
10-112408412-C-T			Benign (Jun 12, 2018)
10-112408450-C-T		not specified	Uncertain significance (Oct 12, 2021)
10-112408455-T-A		not specified	Uncertain significance (Dec 02, 2021)
10-112408495-A-C		not specified	Uncertain significance (Dec 14, 2023)
10-112409515-G-A		not specified	Uncertain significance (May 11, 2022)
10-112409525-T-C		not specified	Uncertain significance (Aug 17, 2021)
10-112409597-T-A		not specified	Uncertain significance (Oct 14, 2023)
10-112409682-T-A			Likely benign (Feb 01, 2024)
10-112410592-C-G		not specified	Uncertain significance (Jun 07, 2023)
10-112411915-C-T		not specified	Uncertain significance (Oct 05, 2023)
10-112411920-C-G		not specified	Uncertain significance (Dec 27, 2022)
10-112416935-G-A			Benign (May 09, 2018)
10-112416957-G-A		not specified	Uncertain significance (Feb 15, 2023)
10-112417862-G-T		not specified	Uncertain significance (Jul 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSL5	protein_coding	protein_coding	ENST00000356116	21	54363

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.89e-9	0.999	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.717	369	410	0.900	0.0000212	4841
Missense in Polyphen		129	161.08	0.80082		1941
Synonymous	0.960	144	159	0.903	0.00000903	1411
Loss of Function	2.96	21	41.6	0.505	0.00000191	517

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000511	0.000511
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000167	0.000167
Middle Eastern	0.000326	0.000326
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyl-CoA synthetases (ACSL) activate long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage (By similarity). Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids (By similarity). It was suggested that it may also stimulate fatty acid oxidation (By similarity). At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells. {ECO:0000250, ECO:0000269|PubMed:17681178, ECO:0000269|PubMed:18806831, ECO:0000269|PubMed:19459852}.
• Pathway: Adipocytokine signaling pathway - Homo sapiens (human);Peroxisome - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Fatty acid biosynthesis - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);Ferroptosis - Homo sapiens (human);Fatty Acid Beta Oxidation;Fatty Acid Biosynthesis;PPAR signaling pathway;Liver steatosis AOP;stearate biosynthesis;Metabolism of lipids;Fatty acyl-CoA biosynthesis;fatty acid activation;Leukotriene metabolism;Omega-3 fatty acid metabolism;Metabolism;Fatty acid metabolism;γ-linolenate biosynthesis;Mono-unsaturated fatty acid beta-oxidation;Omega-6 fatty acid metabolism;Di-unsaturated fatty acid beta-oxidation;Phytanic acid peroxisomal oxidation;fatty acid β-oxidation (peroxisome);icosapentaenoate biosynthesis II (metazoa);fatty acid β-oxidation;Synthesis of very long-chain fatty acyl-CoAs (Consensus)

Recessive Scores

• pRec: 0.157

Intolerance Scores

• loftool: 0.837
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.64

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.499
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.791

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Acsl5
• Phenotype: skeleton phenotype; vision/eye phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: long-chain fatty acid metabolic process;long-chain fatty-acyl-CoA biosynthetic process
• Cellular component: nucleus;nucleolus;mitochondrion;mitochondrial outer membrane;endoplasmic reticulum membrane;membrane;integral component of membrane
• Molecular function: long-chain fatty acid-CoA ligase activity;ATP binding;decanoate-CoA ligase activity