SLC3A1 |
- 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)
Related Links:
Last Evaluated:
03/21/2012
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- cystinuria Monarch
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)