• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC3A1 (HGNC:11025) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 3 member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CSNU1, D2H, RBAT, ATR1, NBAT
%HI
61.26(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.62(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:44502619-44548633 NCBI Ensembl UCSC
GRCh38/hg38: chr2:44275480-44322437 NCBI Ensembl UCSC
MANE Select Transcript
NM_000341.4 ENST00000260649.11 (Read more about MANE Select)
Function
Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane (PubMed:16825196, PubMed:10588648, PubMed:32817565, PubMed:32494597, PubMed:11318953, PubMed:16609684, PubMed:8486766, PubMed:7686906, PubMed:8663184, PubMed:8663357) (By similarity). Associates with SLC7A9 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1. SLC7A... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29498
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
03/21/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)