Format

Send to:

Choose Destination

SLC46A3 solute carrier family 46 member 3 [ Homo sapiens (human) ]

Gene ID: 283537, updated on 10-Dec-2019

Summary

Official Symbol
SLC46A3provided by HGNC
Official Full Name
solute carrier family 46 member 3provided by HGNC
Primary source
HGNC:HGNC:27501
See related
Ensembl:ENSG00000139508 MIM:616764
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FKSG16
Summary
The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]
Expression
Broad expression in small intestine (RPKM 41.0), duodenum (RPKM 24.5) and 21 other tissues See more
Orthologs

Genomic context

See SLC46A3 in Genome Data Viewer
Location:
13q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (28700080..28719013, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (29274217..29293150, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 7 Neighboring gene proteasome maturation protein Neighboring gene RNA, U6 small nuclear 53, pseudogene Neighboring gene cytochrome P450 family 51 subfamily A member 1 pseudogene 2 Neighboring gene POM121 transmembrane nucleoporin like 13, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42613

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 46 member 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053189.1 RefSeqGene

    Range
    5001..23934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135919.2NP_001129391.1  solute carrier family 46 member 3 isoform b precursor

    See identical proteins and their annotated locations for NP_001129391.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein has a distinct and longer C-terminus when it is compared to isoform a.
    Source sequence(s)
    AL359454
    Consensus CDS
    CCDS45021.1
    UniProtKB/Swiss-Prot
    Q7Z3Q1
    Related
    ENSP00000370192.4, ENST00000380814.4
    Conserved Domains (1) summary
    pfam07690
    Location:81399
    MFS_1; Major Facilitator Superfamily
  2. NM_001347960.1NP_001334889.1  solute carrier family 46 member 3 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AL359454, BC068556
    Consensus CDS
    CCDS9332.1
    UniProtKB/Swiss-Prot
    Q7Z3Q1
    UniProtKB/TrEMBL
    A0A024RDN9
  3. NM_181785.4NP_861450.1  solute carrier family 46 member 3 isoform a precursor

    See identical proteins and their annotated locations for NP_861450.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript yet it encodes the shorter isoform (a). Variants 1 and 3 both encode the same isoform (a).
    Source sequence(s)
    AL359454
    Consensus CDS
    CCDS9332.1
    UniProtKB/Swiss-Prot
    Q7Z3Q1
    UniProtKB/TrEMBL
    A0A024RDN9
    Related
    ENSP00000266943.6, ENST00000266943.10
    Conserved Domains (2) summary
    cd06174
    Location:81409
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:81399
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    28700080..28719013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266361.2XP_005266418.1  solute carrier family 46 member 3 isoform X1

    See identical proteins and their annotated locations for XP_005266418.1

    UniProtKB/Swiss-Prot
    Q7Z3Q1
    Conserved Domains (1) summary
    pfam07690
    Location:81399
    MFS_1; Major Facilitator Superfamily
Support Center