SLC27A1
protein-codingsolute carrier family 27 member 1, the group of Solute carrier family 27|Acyl-CoA synthetase family
Gene summary
Enables biotin transmembrane transporter activity; efflux transmembrane transporter activity; and long-chain fatty acid transmembrane transporter activity. Involved in export across plasma membrane; import across plasma membrane; and lipid transport across blood-brain barrier. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~37.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SLC27A1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_198580.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 3 | 6 | |||
| missense | 99 | 4 | 1 | 104 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 103 | 4 | 4 | 111 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_940982.1 | 12 | MANE Select | |
| Ensembl | ENSP00000252595.6 | 12 | MANE Select | |
| Ensembl | ENSP00000472313.1 | 10 | Standard | |
| Ensembl | ENSP00000472313.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Insulin resistance - Homo sapiens (human)
- PPAR signaling pathway - Homo sapiens (human)
- Metformin Pathway, Pharmacokinetics
- Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
- PPAR Alpha Pathway
Biological Process
- medium-chain fatty acid transport
- long-chain fatty acid metabolic process
- phosphatidylethanolamine biosynthetic process
- phosphatidic acid biosynthetic process
- phosphatidylglycerol biosynthetic process
Molecular Function
- nucleotide binding
- long-chain fatty acid-CoA ligase activity
- long-chain fatty acid transporter activity
- protein binding
- fatty acid transmembrane transporter activity
Cellular Component
- mitochondrion
- mitochondrial inner membrane
- endoplasmic reticulum
- cytosol
- plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000252595
- Coding exons
- 12
- Length
- 37400
- Individuals with no LoFs
- 125680
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 68
- Defined
- 125748
- p
- 0.000270
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.560 | 406 | 439 | 0.925 | 0.0000302 | 4080 |
| Missense (PolyPhen) | 107 | 128.15 | 0.83498 | 1182 | ||
| Synonymous | 0.749 | 186 | 199 | 0.933 | 0.0000148 | 1366 |
| Loss of Function | 0.582 | 26 | 29.4 | 0.884 | 0.00000159 | 299 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00064 | 0.00062 | rare |
| Latino/Admixed American | 0.00023 | 0.00023 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00027 | 0.00027 | rare |
| Finnish | 0.00028 | 0.00028 | rare |
| European (Non-Finnish) | 0.00027 | 0.00026 | rare |
| South Asian | 0.00026 | 0.00026 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Mediates the ATP-dependent import of long-chain fatty acids (LCFA) into the cell by mediating their translocation at the plasma membrane (PubMed:28178239). Has also an acyl-CoA ligase activity for long-chain and very-long-chain fatty acids. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane-associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regulating available LCFA substrates from exogenous sources in tissues undergoing high levels of beta-oxidation or triglyceride synthesis. May be involved in regulation of cholesterol metabolism (By similarity). {ECO:0000250|UniProtKB:Q60714, ECO:0000269|PubMed:28178239}.;
Recessive Scores
- pRec
- 0.250
Intolerance Scores
- LoFtool
- 0.667
- RVIS EVS
- -0.8
- RVIS percentile EVS
- 12.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.777
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |