SLC43A1 (solute carrier family 43 member 1) - Rat Genome Database

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Gene: SLC43A1 (solute carrier family 43 member 1) Homo sapiens
Analyze
Symbol: SLC43A1
Name: solute carrier family 43 member 1
RGD ID: 1317883
HGNC Page HGNC:9225
Description: Enables L-isoleucine transmembrane transporter activity; L-leucine transmembrane transporter activity; and L-valine transmembrane transporter activity. Involved in L-leucine transport; L-valine transmembrane transport; and isoleucine transport. Acts upstream of or within negative regulation of L-leucine import across plasma membrane. Located in apical plasma membrane and podocyte foot.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: L-type amino acid transporter 3; large neutral amino acids transporter small subunit 3; LAT3; PB39; POV1; prostate cancer overexpressed gene 1 protein; R00504; solute carrier family 43 (amino acid system L transporter), member 1; solute carrier family 43, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381157,484,534 - 57,515,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,484,534 - 57,515,780 (-)EnsemblGRCh38hg38GRCh38
GRCh371157,252,007 - 57,283,175 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,008,583 - 57,039,735 (-)NCBINCBI36Build 36hg18NCBI36
Build 341157,008,583 - 57,039,735NCBI
Celera1154,608,562 - 54,639,686 (-)NCBICelera
Cytogenetic Map11q12.1ENTREZGENE
HuRef1153,600,856 - 53,631,981 (-)NCBIHuRef
CHM1_11157,118,296 - 57,149,440 (-)NCBICHM1_1
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
C60 fullerene  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
isoflavones  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
motexafin gadolinium  (EXP)
nefazodone  (ISO)
niclosamide  (EXP)
nitrofen  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:972295   PMID:8889549   PMID:9255310   PMID:9722952   PMID:11956097   PMID:12477932   PMID:12930836   PMID:14702039   PMID:15489334   PMID:18195088   PMID:19443642   PMID:21873635  
PMID:26186194   PMID:26305885   PMID:28514442   PMID:30639242   PMID:31073040   PMID:32296183   PMID:33961781   PMID:34672954   PMID:37314216   PMID:38569033  


Genomics

Comparative Map Data
SLC43A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381157,484,534 - 57,515,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1157,484,534 - 57,515,780 (-)EnsemblGRCh38hg38GRCh38
GRCh371157,252,007 - 57,283,175 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,008,583 - 57,039,735 (-)NCBINCBI36Build 36hg18NCBI36
Build 341157,008,583 - 57,039,735NCBI
Celera1154,608,562 - 54,639,686 (-)NCBICelera
Cytogenetic Map11q12.1ENTREZGENE
HuRef1153,600,856 - 53,631,981 (-)NCBIHuRef
CHM1_11157,118,296 - 57,149,440 (-)NCBICHM1_1
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBIT2T-CHM13v2.0
Slc43a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39284,669,196 - 84,693,930 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl284,669,194 - 84,693,938 (+)EnsemblGRCm39 Ensembl
GRCm38284,838,855 - 84,863,586 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl284,838,850 - 84,863,594 (+)EnsemblGRCm38mm10GRCm38
MGSCv37284,679,565 - 84,703,743 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36284,639,689 - 84,664,433 (+)NCBIMGSCv36mm8
Celera286,437,558 - 86,461,734 (+)NCBICelera
Cytogenetic Map2DNCBI
cM Map249.45NCBI
Slc43a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8390,327,250 - 90,353,438 (+)NCBIGRCr8
mRatBN7.2369,920,586 - 69,946,768 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl369,920,649 - 69,946,768 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx373,302,227 - 73,328,235 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0381,900,896 - 81,926,906 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0379,659,861 - 79,685,343 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0372,238,796 - 72,265,023 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl372,238,981 - 72,264,466 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0378,760,039 - 78,784,936 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4368,049,296 - 68,090,034 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1367,946,913 - 67,986,407 (+)NCBI
Celera369,275,546 - 69,301,624 (+)NCBICelera
Cytogenetic Map3q24NCBI
Slc43a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555112,472,716 - 2,490,508 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555112,474,173 - 2,490,508 (-)NCBIChiLan1.0ChiLan1.0
SLC43A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2958,641,028 - 58,672,202 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11159,657,821 - 59,689,855 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01152,725,502 - 52,757,273 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11156,197,977 - 56,228,610 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1156,197,977 - 56,228,565 (-)Ensemblpanpan1.1panPan2
SLC43A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11838,652,961 - 38,675,007 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1838,653,036 - 38,674,513 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1838,199,173 - 38,221,101 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01839,335,064 - 39,357,027 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1839,335,059 - 39,356,531 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11838,917,618 - 38,939,566 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01838,491,380 - 38,513,311 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01839,121,714 - 39,143,656 (+)NCBIUU_Cfam_GSD_1.0
Slc43a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494714,870,835 - 14,896,450 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365814,984,668 - 5,009,332 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365814,986,034 - 5,009,892 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC43A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl213,406,948 - 13,436,268 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1213,407,046 - 13,436,270 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC43A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1115,716,708 - 15,750,453 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038113,067,680 - 113,099,596 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc43a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248643,137,713 - 3,160,656 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248643,137,663 - 3,174,793 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC43A1
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3 copy number gain See cases [RCV000051908] Chr11:57372226..57936167 [GRCh38]
Chr11:57139699..57703639 [GRCh37]
Chr11:56896275..57460215 [NCBI36]
Chr11:11q12.1		 uncertain significance
GRCh38/hg38 11q11-12.1(chr11:55316535-57539457)x3 copy number gain See cases [RCV000141200] Chr11:55316535..57539457 [GRCh38]
Chr11:55084011..57306930 [GRCh37]
Chr11:54840587..57063506 [NCBI36]
Chr11:11q11-12.1		 uncertain significance
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 copy number gain See cases [RCV000142757] Chr11:55319519..58998777 [GRCh38]
Chr11:55086995..58766250 [GRCh37]
Chr11:54843571..58522826 [NCBI36]
Chr11:11q11-12.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003627.6(SLC43A1):c.1606C>T (p.Arg536Trp) single nucleotide variant not specified [RCV004333750] Chr11:57485170 [GRCh38]
Chr11:57252643 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3 copy number gain not provided [RCV000683370] Chr11:49313405..59008426 [GRCh37]
Chr11:11p11.12-q12.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q12.1(chr11:57147016-57667222)x3 copy number gain not provided [RCV000750056] Chr11:57147016..57667222 [GRCh37]
Chr11:11q12.1		 benign
NM_003627.6(SLC43A1):c.118C>A (p.Leu40Met) single nucleotide variant not provided [RCV000881495] Chr11:57513994 [GRCh38]
Chr11:57281467 [GRCh37]
Chr11:11q12.1		 benign
NM_003627.6(SLC43A1):c.356C>T (p.Thr119Ile) single nucleotide variant not provided [RCV000972487] Chr11:57501020 [GRCh38]
Chr11:57268493 [GRCh37]
Chr11:11q12.1		 benign
NM_003627.6(SLC43A1):c.1014G>C (p.Glu338Asp) single nucleotide variant not provided [RCV000902791] Chr11:57491720 [GRCh38]
Chr11:57259193 [GRCh37]
Chr11:11q12.1		 likely benign
NM_003627.6(SLC43A1):c.1159G>A (p.Ala387Thr) single nucleotide variant not provided [RCV000968213] Chr11:57491258 [GRCh38]
Chr11:57258731 [GRCh37]
Chr11:11q12.1		 benign
NM_003627.6(SLC43A1):c.490C>T (p.Arg164Cys) single nucleotide variant not specified [RCV004291309] Chr11:57497821 [GRCh38]
Chr11:57265294 [GRCh37]
Chr11:11q12.1		 uncertain significance
Single allele duplication not provided [RCV000844966] Chr11:55033164..57518726 [GRCh37]
Chr11:11q11-12.1		 not provided
NM_003627.6(SLC43A1):c.511A>G (p.Met171Val) single nucleotide variant not specified [RCV004291077] Chr11:57497800 [GRCh38]
Chr11:57265273 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.543G>A (p.Thr181=) single nucleotide variant not provided [RCV000962141] Chr11:57497768 [GRCh38]
Chr11:57265241 [GRCh37]
Chr11:11q12.1		 benign
NM_003627.6(SLC43A1):c.200C>G (p.Pro67Arg) single nucleotide variant not specified [RCV004683755] Chr11:57501284 [GRCh38]
Chr11:57268757 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.772G>T (p.Gly258Cys) single nucleotide variant not specified [RCV004683756] Chr11:57494092 [GRCh38]
Chr11:57261565 [GRCh37]
Chr11:11q12.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_57235082)_(57467503_?)del deletion not provided [RCV001390202] Chr11:57235082..57467503 [GRCh37]
Chr11:11q12.1		 pathogenic
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3 copy number gain not provided [RCV001825196] Chr11:57112299..57871866 [GRCh37]
Chr11:11q12.1		 not provided
GRCh37/hg19 11q12.1(chr11:57037091-57453575)x3 copy number gain not provided [RCV001829225] Chr11:57037091..57453575 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_003627.6(SLC43A1):c.1135T>G (p.Trp379Gly) single nucleotide variant not specified [RCV004314403] Chr11:57491282 [GRCh38]
Chr11:57258755 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1199G>A (p.Gly400Glu) single nucleotide variant not specified [RCV004293397] Chr11:57489387 [GRCh38]
Chr11:57256860 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1(chr11:56637024-57361915)x3 copy number gain not provided [RCV002473570] Chr11:56637024..57361915 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.844C>T (p.Arg282Trp) single nucleotide variant not specified [RCV004208636] Chr11:57494020 [GRCh38]
Chr11:57261493 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.11C>T (p.Thr4Met) single nucleotide variant not specified [RCV004159947] Chr11:57514101 [GRCh38]
Chr11:57281574 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.487C>G (p.Leu163Val) single nucleotide variant not specified [RCV004159736] Chr11:57497824 [GRCh38]
Chr11:57265297 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.256G>A (p.Val86Met) single nucleotide variant not specified [RCV004234987] Chr11:57501228 [GRCh38]
Chr11:57268701 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.44T>A (p.Met15Lys) single nucleotide variant not specified [RCV004203298] Chr11:57514068 [GRCh38]
Chr11:57281541 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.655A>G (p.Ile219Val) single nucleotide variant not specified [RCV004235868] Chr11:57496068 [GRCh38]
Chr11:57263541 [GRCh37]
Chr11:11q12.1		 likely benign
NM_003627.6(SLC43A1):c.28C>T (p.Arg10Trp) single nucleotide variant not specified [RCV004083997] Chr11:57514084 [GRCh38]
Chr11:57281557 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1643C>T (p.Pro548Leu) single nucleotide variant not specified [RCV004162511] Chr11:57485133 [GRCh38]
Chr11:57252606 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.811G>A (p.Gly271Ser) single nucleotide variant not specified [RCV004109235] Chr11:57494053 [GRCh38]
Chr11:57261526 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.319C>T (p.Arg107Trp) single nucleotide variant not specified [RCV004124205] Chr11:57501165 [GRCh38]
Chr11:57268638 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.10A>C (p.Thr4Pro) single nucleotide variant not specified [RCV004239420] Chr11:57514102 [GRCh38]
Chr11:57281575 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1485G>T (p.Gln495His) single nucleotide variant not specified [RCV004242344] Chr11:57487143 [GRCh38]
Chr11:57254616 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.11C>A (p.Thr4Lys) single nucleotide variant not specified [RCV004194327] Chr11:57514101 [GRCh38]
Chr11:57281574 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1456A>G (p.Ile486Val) single nucleotide variant not specified [RCV004071341] Chr11:57487172 [GRCh38]
Chr11:57254645 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1139G>A (p.Arg380Gln) single nucleotide variant not specified [RCV004183296] Chr11:57491278 [GRCh38]
Chr11:57258751 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1433C>T (p.Thr478Met) single nucleotide variant not specified [RCV004175225] Chr11:57487195 [GRCh38]
Chr11:57254668 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1400A>G (p.Tyr467Cys) single nucleotide variant not specified [RCV004106101] Chr11:57488925 [GRCh38]
Chr11:57256398 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.817G>A (p.Asp273Asn) single nucleotide variant not specified [RCV004252346] Chr11:57494047 [GRCh38]
Chr11:57261520 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.925C>T (p.Leu309Phe) single nucleotide variant not specified [RCV004268314] Chr11:57491809 [GRCh38]
Chr11:57259282 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.298C>T (p.Arg100Cys) single nucleotide variant not specified [RCV004296806] Chr11:57501186 [GRCh38]
Chr11:57268659 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.494C>T (p.Ser165Phe) single nucleotide variant not specified [RCV004302784] Chr11:57497817 [GRCh38]
Chr11:57265290 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.905C>G (p.Pro302Arg) single nucleotide variant not specified [RCV004360398] Chr11:57491829 [GRCh38]
Chr11:57259302 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.877G>C (p.Val293Leu) single nucleotide variant not specified [RCV004334526] Chr11:57491857 [GRCh38]
Chr11:57259330 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV003456773] Chr11:57496156 [GRCh38]
Chr11:57263629 [GRCh37]
Chr11:11q12.1		 likely benign
NM_003627.6(SLC43A1):c.149G>A (p.Cys50Tyr) single nucleotide variant not specified [RCV004364931] Chr11:57513963 [GRCh38]
Chr11:57281436 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1498G>A (p.Ala500Thr) single nucleotide variant not specified [RCV004356520] Chr11:57487130 [GRCh38]
Chr11:57254603 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 copy number gain not specified [RCV003986944] Chr11:56895955..69295402 [GRCh37]
Chr11:11q12.1-13.3		 likely pathogenic
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 copy number gain not specified [RCV003986918] Chr11:50398499..63924462 [GRCh37]
Chr11:11p11.12-q13.1		 likely pathogenic
GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3 copy number gain not specified [RCV003986941] Chr11:57112299..57871866 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.398C>T (p.Pro133Leu) single nucleotide variant not specified [RCV004461658] Chr11:57500846 [GRCh38]
Chr11:57268319 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.886C>G (p.Arg296Gly) single nucleotide variant not specified [RCV004461661] Chr11:57491848 [GRCh38]
Chr11:57259321 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1552C>G (p.Leu518Val) single nucleotide variant not specified [RCV004461655] Chr11:57485224 [GRCh38]
Chr11:57252697 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.210C>G (p.Asp70Glu) single nucleotide variant not specified [RCV004461657] Chr11:57501274 [GRCh38]
Chr11:57268747 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1226G>A (p.Arg409His) single nucleotide variant not specified [RCV004461654] Chr11:57489360 [GRCh38]
Chr11:57256833 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.50G>C (p.Cys17Ser) single nucleotide variant not specified [RCV004461659] Chr11:57514062 [GRCh38]
Chr11:57281535 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1675G>A (p.Ala559Thr) single nucleotide variant not specified [RCV004461656] Chr11:57485101 [GRCh38]
Chr11:57252574 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.119T>A (p.Leu40Gln) single nucleotide variant not specified [RCV004461653] Chr11:57513993 [GRCh38]
Chr11:57281466 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.680A>G (p.Glu227Gly) single nucleotide variant not specified [RCV004461660] Chr11:57496043 [GRCh38]
Chr11:57263516 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1291G>T (p.Val431Leu) single nucleotide variant not specified [RCV004674732] Chr11:57489295 [GRCh38]
Chr11:57256768 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.1146G>T (p.Lys382Asn) single nucleotide variant not specified [RCV004674733] Chr11:57491271 [GRCh38]
Chr11:57258744 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.189G>T (p.Gln63His) single nucleotide variant not specified [RCV004674731] Chr11:57501295 [GRCh38]
Chr11:57268768 [GRCh37]
Chr11:11q12.1		 uncertain significance
NM_003627.6(SLC43A1):c.449C>A (p.Thr150Lys) single nucleotide variant not specified [RCV004674734] Chr11:57500795 [GRCh38]
Chr11:57268268 [GRCh37]
Chr11:11q12.1		 uncertain significance
GRCh37/hg19 11q12.1(chr11:57003258-57596656)x3 copy number gain Pontocerebellar hypoplasia type 10 [RCV004767746] Chr11:57003258..57596656 [GRCh37]
Chr11:11q12.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3463
Count of miRNA genes:972
Interacting mature miRNAs:1225
Transcripts:ENST00000278426, ENST00000524995, ENST00000525764, ENST00000528450, ENST00000529452, ENST00000530159, ENST00000533066, ENST00000533263, ENST00000533515, ENST00000534105, ENST00000534298
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406985811GWAS634787_HBMI-adjusted waist circumference QTL GWAS634787 (human)2e-11BMI-adjusted waist circumference115751558357515584Human
407103250GWAS752226_Hmathematical ability QTL GWAS752226 (human)2e-11mathematical ability115750353157503532Human
407387961GWAS1036937_Hserum alanine aminotransferase measurement QTL GWAS1036937 (human)1e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)115748820757488208Human
407114002GWAS762978_Hphenylalanine measurement QTL GWAS762978 (human)2e-29phenylalanine measurement115749222157492222Human
407112514GWAS761490_Hwaist-hip ratio QTL GWAS761490 (human)6e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)115749552057495521Human
407259728GWAS908704_Hserum alanine aminotransferase measurement QTL GWAS908704 (human)2e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)115749256157492562Human
407307729GWAS956705_Hphenylalanine measurement QTL GWAS956705 (human)2e-34phenylalanine measurement115749222157492222Human
407111294GWAS760270_Hmathematical ability QTL GWAS760270 (human)5e-08mathematical ability115750353157503532Human
407004286GWAS653262_Hinterleukin 18 measurement QTL GWAS653262 (human)0.000004interleukin 18 measurement115749552057495521Human
407195658GWAS844634_Hphenylalanine measurement QTL GWAS844634 (human)4e-13phenylalanine measurement115750303657503037Human

Markers in Region
WI-17004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,252,449 - 57,252,549UniSTSGRCh37
Build 361157,009,025 - 57,009,125RGDNCBI36
Celera1154,609,004 - 54,609,104RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,601,301 - 53,601,401UniSTS
GeneMap99-GB4 RH Map11206.02UniSTS
Whitehead-RH Map11274.3UniSTS
NCBI RH Map11429.3UniSTS
WI-18571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,252,025 - 57,252,161UniSTSGRCh37
Build 361157,008,601 - 57,008,737RGDNCBI36
Celera1154,608,580 - 54,608,716RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,600,877 - 53,601,013UniSTS
GeneMap99-GB4 RH Map11206.02UniSTS
Whitehead-RH Map11274.3UniSTS
SLC43A1_7921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,251,907 - 57,252,666UniSTSGRCh37
Build 361157,008,483 - 57,009,242RGDNCBI36
Celera1154,608,462 - 54,609,221RGD
HuRef1153,600,757 - 53,601,518UniSTS
RH11621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,252,057 - 57,252,241UniSTSGRCh37
Build 361157,008,633 - 57,008,817RGDNCBI36
Celera1154,608,612 - 54,608,796RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,600,909 - 53,601,093UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS
RH16439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,283,830 - 57,284,002UniSTSGRCh37
Build 361157,040,406 - 57,040,578RGDNCBI36
Celera1154,640,357 - 54,640,529RGD
Cytogenetic Map11q12.1UniSTS
HuRef1153,632,619 - 53,632,791UniSTS
GeneMap99-GB4 RH Map11213.06UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2246 4948 1724 2348 5 624 1950 465 2269 7291 6461 52 3713 1 849 1740 1613 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001198810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA040589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB103033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF045584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM147085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ029981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000278426   ⟹   ENSP00000278426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,484,534 - 57,515,702 (-)Ensembl
Ensembl Acc Id: ENST00000524995   ⟹   ENSP00000432361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,497,753 - 57,515,780 (-)Ensembl
Ensembl Acc Id: ENST00000525764   ⟹   ENSP00000435803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,487,180 - 57,501,319 (-)Ensembl
Ensembl Acc Id: ENST00000528450   ⟹   ENSP00000435673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,484,536 - 57,514,885 (-)Ensembl
Ensembl Acc Id: ENST00000529452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,491,253 - 57,494,520 (-)Ensembl
Ensembl Acc Id: ENST00000530159   ⟹   ENSP00000434312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,491,803 - 57,514,851 (-)Ensembl
Ensembl Acc Id: ENST00000533066   ⟹   ENSP00000435647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,493,993 - 57,514,615 (-)Ensembl
Ensembl Acc Id: ENST00000533263   ⟹   ENSP00000435486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,501,152 - 57,515,686 (-)Ensembl
Ensembl Acc Id: ENST00000533515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,491,303 - 57,499,677 (-)Ensembl
Ensembl Acc Id: ENST00000534105   ⟹   ENSP00000432241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1157,497,842 - 57,514,833 (-)Ensembl
RefSeq Acc Id: NM_001198810   ⟹   NP_001185739
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,514,909 (-)NCBI
GRCh371157,252,004 - 57,283,192 (-)ENTREZGENE
HuRef1153,600,856 - 53,631,981 (-)ENTREZGENE
CHM1_11157,118,296 - 57,148,606 (-)NCBI
T2T-CHM13v2.01157,434,741 - 57,465,087 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003627   ⟹   NP_003618
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,515,702 (-)NCBI
GRCh371157,252,004 - 57,283,192 (-)ENTREZGENE
Build 361157,008,583 - 57,039,735 (-)NCBI Archive
Celera1154,608,562 - 54,639,686 (-)RGD
HuRef1153,600,856 - 53,631,981 (-)ENTREZGENE
CHM1_11157,118,296 - 57,149,440 (-)NCBI
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005274358   ⟹   XP_005274415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,515,702 (-)NCBI
GRCh371157,252,004 - 57,283,192 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545320   ⟹   XP_011543622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,515,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018452   ⟹   XP_016873941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,515,702 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448727   ⟹   XP_024304495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,514,042 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427777   ⟹   XP_047283733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,484,534 - 57,514,909 (-)NCBI
RefSeq Acc Id: XM_054370301   ⟹   XP_054226276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBI
RefSeq Acc Id: XM_054370302   ⟹   XP_054226277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBI
RefSeq Acc Id: XM_054370303   ⟹   XP_054226278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,434,741 - 57,465,880 (-)NCBI
RefSeq Acc Id: XM_054370304   ⟹   XP_054226279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,434,741 - 57,465,087 (-)NCBI
RefSeq Acc Id: XM_054370305   ⟹   XP_054226280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01157,434,741 - 57,464,220 (-)NCBI
RefSeq Acc Id: NP_003618   ⟸   NM_003627
- UniProtKB: O75387 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185739   ⟸   NM_001198810
- UniProtKB: O75387 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005274415   ⟸   XM_005274358
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543622   ⟸   XM_011545320
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873941   ⟸   XM_017018452
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024304495   ⟸   XM_024448727
- Peptide Label: isoform X4
- UniProtKB: B3KNL1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000434312   ⟸   ENST00000530159
Ensembl Acc Id: ENSP00000435486   ⟸   ENST00000533263
Ensembl Acc Id: ENSP00000435647   ⟸   ENST00000533066
Ensembl Acc Id: ENSP00000432241   ⟸   ENST00000534105
Ensembl Acc Id: ENSP00000432361   ⟸   ENST00000524995
Ensembl Acc Id: ENSP00000435803   ⟸   ENST00000525764
Ensembl Acc Id: ENSP00000435673   ⟸   ENST00000528450
Ensembl Acc Id: ENSP00000278426   ⟸   ENST00000278426
RefSeq Acc Id: XP_047283733   ⟸   XM_047427777
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226278   ⟸   XM_054370303
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226277   ⟸   XM_054370302
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054226276   ⟸   XM_054370301
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054226279   ⟸   XM_054370304
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054226280   ⟸   XM_054370305
- Peptide Label: isoform X4
- UniProtKB: B3KNL1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75387-F1-model_v2 AlphaFold O75387 1-559 view protein structure

Promoters
RGD ID:6789388
Promoter ID:HG_KWN:12925
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001NKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361157,038,626 - 57,039,892 (-)MPROMDB
RGD ID:6789386
Promoter ID:HG_KWN:12926
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:NM_003627
Position:
Human AssemblyChrPosition (strand)Source
Build 361157,039,454 - 57,039,954 (-)MPROMDB
RGD ID:7220337
Promoter ID:EPDNEW_H15914
Type:initiation region
Name:SLC43A1_2
Description:solute carrier family 43 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15915  EPDNEW_H15916  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,514,860 - 57,514,920EPDNEW
RGD ID:7220339
Promoter ID:EPDNEW_H15915
Type:initiation region
Name:SLC43A1_1
Description:solute carrier family 43 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15914  EPDNEW_H15916  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,515,702 - 57,515,762EPDNEW
RGD ID:7220341
Promoter ID:EPDNEW_H15916
Type:initiation region
Name:SLC43A1_3
Description:solute carrier family 43 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15914  EPDNEW_H15915  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,515,954 - 57,516,014EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9225 AgrOrtholog
COSMIC SLC43A1 COSMIC
Ensembl Genes ENSG00000149150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278426 ENTREZGENE
  ENST00000278426.8 UniProtKB/Swiss-Prot
  ENST00000524995.5 UniProtKB/TrEMBL
  ENST00000525764.5 UniProtKB/TrEMBL
  ENST00000528450 ENTREZGENE
  ENST00000528450.5 UniProtKB/Swiss-Prot
  ENST00000530159.5 UniProtKB/TrEMBL
  ENST00000533066.5 UniProtKB/TrEMBL
  ENST00000533263.1 UniProtKB/TrEMBL
  ENST00000534105.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149150 GTEx
HGNC ID HGNC:9225 ENTREZGENE
Human Proteome Map SLC43A1 Human Proteome Map
InterPro MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8501 UniProtKB/Swiss-Prot
NCBI Gene 8501 ENTREZGENE
OMIM 603733 OMIM
PANTHER LARGE NEUTRAL AMINO ACIDS TRANSPORTER SMALL SUBUNIT 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR20766 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MFS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33549 PharmGKB
Superfamily-SCOP SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KNL1 ENTREZGENE, UniProtKB/TrEMBL
  E9PJ68_HUMAN UniProtKB/TrEMBL
  E9PJT8_HUMAN UniProtKB/TrEMBL
  E9PR87_HUMAN UniProtKB/TrEMBL
  E9PRF0_HUMAN UniProtKB/TrEMBL
  H0YEH0_HUMAN UniProtKB/TrEMBL
  LAT3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC43A1  solute carrier family 43 member 1  SLC43A1  solute carrier family 43 (amino acid system L transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC43A1  solute carrier family 43 (amino acid system L transporter), member 1  SLC43A1  solute carrier family 43, member 1  Symbol and/or name change 5135510 APPROVED