Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | SLC22A4 | contributors: shn - updated : 13-01-2009 |
HGNC name | solute carrier family 22 (organic cation/ergothioneine transporter), member 4 |
HGNC id | 10968 |
|
Location | 5q31.1 Physical location : 131.630.144 - 131.679.897 |
Synonym name | |
| |
| |
Synonym symbol(s) | OCTN1, MGC34546, UT2H, MGC40524, ETT |
DNA |
TYPE | functioning gene |
STRUCTURE | 49.76 kb 10 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
---|
MAPPING | cloned | Y | linked | status | confirmed |
Map | cen - D5S2057 - D5S1984 - SLC22A4 - D5S2002 - D5S2497 - qter cDNA for a novel proton/organic cation transporter, OCTN1 , was cloned from human fetal liver and was mapped to 5q31 |
RNA |
TRANSCRIPTS | type | messenger |
---|
|
EXPRESSION |
Type | widely |
tissue |
|
cells |
|
cell lineage | OCTN1 mRNA expression was detected in cultured human corneal-limbal epithelial (HCLE) and human conjunctival epithelial (HCjE) cells of rabbits and humans |
cell lines | cancer cell lines (G361, A549, SW480, K-562, HeLa cellS3) |
fluid/secretion |
at STAGE |
physiological period | fetal |
Text | liver, kidney, lung, brain |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
| |
| |
|
HOMOLOGY |
interspecies | homolog to murine Slc22a4 |
homolog to rattus Actn1 |
intraspecies | homolog to slc22a5 |
Homologene |
FAMILY | |
|
CATEGORY | enzyme , transport carrier |
SUBCELLULAR LOCALIZATION | plasma membrane |
text | renal tubule apical membrane |
basic FUNCTION | |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
text | carnitine transport |
PATHWAY |
metabolism |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | regulated by RUNX1 |
ASSOCIATED DISORDERS |
corresponding disease(s) |
Susceptibility |
|
Variant & Polymorphism SNP , other | a missense substitution increasing the susceptibility to Crohn disease |
Candidate gene
Marker
| Therapy target
|
| |
ANIMAL & CELL MODELS |