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SLC43A3 solute carrier family 43 member 3 [ Homo sapiens (human) ]

Gene ID: 29015, updated on 1-Aug-2020

Summary

Official Symbol
SLC43A3provided by HGNC
Official Full Name
solute carrier family 43 member 3provided by HGNC
Primary source
HGNC:HGNC:17466
See related
Ensembl:ENSG00000134802 MIM:618034
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EEG1; ENBT1; FOAP-13; PRO1659; SEEEG-1
Expression
Ubiquitous expression in thyroid (RPKM 33.1), liver (RPKM 25.7) and 24 other tissues See more
Orthologs

Genomic context

See SLC43A3 in Genome Data Viewer
Location:
11q12.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (57406954..57427580, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (57174427..57195053, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369312 Neighboring gene proteoglycan 2, pro eosinophil major basic protein Neighboring gene RNA, 5S ribosomal pseudogene 341 Neighboring gene RN7SK pseudogene 259

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

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PRG2

Homology

Clone Names

  • DKFZp762A227

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
transmembrane transporter activity IEA
Inferred from Electronic Annotation
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
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 43 member 3
Names
likely ortholog of mouse embryonic epithelial gene 1

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.

mRNA and Protein(s)

  1. NM_001278201.2NP_001265130.1  solute carrier family 43 member 3 isoform 1

    See identical proteins and their annotated locations for NP_001265130.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    AK315839, AL157431
    Consensus CDS
    CCDS7956.1
    UniProtKB/Swiss-Prot
    Q8NBI5
    UniProtKB/TrEMBL
    A0A024R4Y2, B0AZP8
  2. NM_001278206.2NP_001265135.1  solute carrier family 43 member 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (2) has an additional segment, compared to isoform 1.
    Source sequence(s)
    AK298028, AL157431
    Consensus CDS
    CCDS60784.1
    UniProtKB/Swiss-Prot
    Q8NBI5
    Related
    ENSP00000434515.1, ENST00000533524.5
  3. NM_014096.4NP_054815.2  solute carrier family 43 member 3 isoform 1

    See identical proteins and their annotated locations for NP_054815.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variants 2, 3 and 4 encode the same isoform (1).
    Source sequence(s)
    AL157431, AP000781, HY120731
    Consensus CDS
    CCDS7956.1
    UniProtKB/Swiss-Prot
    Q8NBI5
    UniProtKB/TrEMBL
    A0A024R4Y2
    Related
    ENSP00000378555.2, ENST00000395123.6
  4. NM_017611.2NP_060081.1  solute carrier family 43 member 3 isoform 1

    See identical proteins and their annotated locations for NP_060081.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' UTR exon, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    AB028927, AL157431
    Consensus CDS
    CCDS7956.1
    UniProtKB/Swiss-Prot
    Q8NBI5
    UniProtKB/TrEMBL
    A0A024R4Y2
    Related
    ENSP00000337561.1, ENST00000352187.5
  5. NM_199329.3NP_955361.1  solute carrier family 43 member 3 isoform 1

    See identical proteins and their annotated locations for NP_955361.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform 1.
    Source sequence(s)
    AL157431, BC003163, DC347054
    Consensus CDS
    CCDS7956.1
    UniProtKB/Swiss-Prot
    Q8NBI5
    UniProtKB/TrEMBL
    A0A024R4Y2
    Related
    ENSP00000378556.1, ENST00000395124.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    57406954..57427580 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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