GenTIGS

Solute carrier family 7 member 7 (SLC7A7) Associated conditions: 1. Lysinuric protein intolerance

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001126105.3	NP_001119577.1	NC_000014.9	(22773221..22819790, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001126106.4	NP_001119578.1	NC_000014.9	(22773221..22819790, complement)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_003982.4	NP_003973.3	NC_000014.9	(22773221..22819790, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 146 reference articles

Variant Information Solute carrier family 7 member 7 (SLC7A7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Solute carrier family 7 member 7 (SLC7A7)

ClinVar variants:Revealing mutagenic patterns

GO Term of Solute carrier family 7 member 7 (SLC7A7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	involved_in	amino acid transmembrane transport	Process	-
2	Homo sapiens	IPI	enables	protein binding	Function	9878049 40355756
3	Homo sapiens	IBA	is_active_in	plasma membrane	Component	-
4	Homo sapiens	TAS	located_in	plasma membrane	Component	9829974
5	Homo sapiens	IEA	involved_in	amino acid transport	Process	-
6	Homo sapiens	IBA	enables	basic amino acid transmembrane transporter activity	Function	-
7	Homo sapiens	IEA	enables	basic amino acid transmembrane transporter activity	Function	-
8	Homo sapiens	IBA	enables	L-amino acid transmembrane transporter activity	Function	-
9	Homo sapiens	IDA	involved_in	L-leucine transport	Process	9829974 9878049
10	Homo sapiens	IEA	involved_in	L-leucine transport	Process	-
11	Homo sapiens	IEA	located_in	membrane	Component	-
12	Homo sapiens	IDA	located_in	basolateral plasma membrane	Component	15756301
13	Homo sapiens	IEA	located_in	basolateral plasma membrane	Component	-
14	Homo sapiens	IEA	enables	transmembrane transporter activity	Function	-
15	Homo sapiens	IEA	involved_in	transmembrane transport	Process	-
16	Homo sapiens	ISS	enables	L-arginine transmembrane transporter activity	Function	-
17	Homo sapiens	IDA	involved_in	amino acid import across plasma membrane	Process	9878049
18	Homo sapiens	IDA	involved_in	L-arginine transmembrane transport	Process	9829974
19	Homo sapiens	IEA	involved_in	L-arginine transmembrane transport	Process	-
20	Homo sapiens	TAS	involved_in	basic amino acid transmembrane transport	Process	9829974