Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54896
Gene name	Solute carrier family 66 member 1
Gene symbol	SLC66A1
Synonyms (NCBI Gene)	LAAT-1LAAT1PQLC2
Chromosome	1
Chromosome location	1p36.13

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005290	Function	L-histidine transmembrane transporter activity	IDA	34344826
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	22822152, 34344826
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0006865	Process	Amino acid transport	IEA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IEA
GO:0015174	Function	Basic amino acid transmembrane transporter activity	ISS
GO:0015174	Function	Basic amino acid transmembrane transporter activity	TAS
GO:0015189	Function	L-lysine transmembrane transporter activity	IBA
GO:0015189	Function	L-lysine transmembrane transporter activity	IDA	22822152, 34344826
GO:0015819	Process	Lysine transport	IDA	22822152
GO:0016020	Component	Membrane	IEA
GO:0031090	Component	Organelle membrane	IDA	22822152
GO:0055085	Process	Transmembrane transport	TAS
GO:0061459	Function	L-arginine transmembrane transporter activity	IDA	22822152, 34344826
GO:0080144	Process	Intracellular amino acid homeostasis	IDA	22822152
GO:0080144	Process	Intracellular amino acid homeostasis	IEA
GO:0089709	Process	L-histidine transmembrane transport	IDA	34344826
GO:1903401	Process	L-lysine transmembrane transport	IDA	34344826
GO:1903826	Process	L-arginine transmembrane transport	IDA	22822152, 34344826

MIM	HGNC	e!Ensembl
614760	26001	ENSG00000040487

Q6ZP29

Protein name

Lysosomal amino acid transporter 1 homolog (PQ-loop repeat-containing protein 2) (Solute carrier family 66 member 1)

Protein function

Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04193	PQ-loop	37 → 98	PQ loop repeat	Repeat
PF04193	PQ-loop	183 → 243	PQ loop repeat	Repeat

Sequence

MVWKKLGSRNFSSCPSGSIQWIWDVLGECAQDGWDEASVGLGLISILCFAASTFPQFIKA
YKTGNMDQALSLWFLLGWIGGDSCNLIGSFLADQLPLQTYTAVYYVLADLVMLTLYFYYK
FRTRPSLLSAPINSVLLFLMGMACATPLLSAAGPVAAPREAFRGRALLSVESGSKPFTRQ
EVIGFVIGSISSVLYLLSRLPQIRTNFLRKSTQGISYSLFALVMLGNTLYGLSVLLKNPE
EGQSEGSYLLHHLPWLVGSLGVLLLDTIISIQFLVYRRSTAASELEPLLPS

Sequence length

291

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Miscellaneous transport and binding events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephropathic cystinosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (8)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colon Carcinoma	Colon Carcinoma	BEFREE	28184026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28184026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	22822152, 23169667	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30729615	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28184026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30729615	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30729615	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC66A1 (solute carrier family 66 member 1)