SLC41A1 (solute carrier family 41 member 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SLC41A1 (solute carrier family 41 member 1) Homo sapiens
Analyze
Symbol: SLC41A1
Name: solute carrier family 41 member 1
RGD ID: 1322838
HGNC Page HGNC
Description: Enables magnesium ion transmembrane transporter activity and magnesium:sodium antiporter activity. Involved in cellular magnesium ion homeostasis; cellular response to magnesium ion; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2-hydroxypropanoic acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: MgtE; NPHPL2; solute carrier family 41 (magnesium transporter), member 1; solute carrier family 41, member 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1205,789,094 - 205,813,748 (-)EnsemblGRCh38hg38GRCh38
GRCh381205,789,095 - 205,813,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371205,758,223 - 205,782,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,024,844 - 204,048,784 (-)NCBINCBI36hg18NCBI36
Build 341202,489,878 - 202,513,818NCBI
Celera1178,894,473 - 178,918,404 (-)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1176,922,911 - 176,946,834 (-)NCBIHuRef
CHM1_11207,181,729 - 207,205,652 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:12810078   PMID:14702039   PMID:15713785   PMID:16344560   PMID:18367447   PMID:19322201   PMID:19915576   PMID:20683486   PMID:21696366   PMID:21738487   PMID:21812739  
PMID:21873635   PMID:22031603   PMID:23269536   PMID:23661805   PMID:23823179   PMID:23844728   PMID:23976986   PMID:24661466   PMID:25217961   PMID:25434496   PMID:26186194   PMID:26308152  
PMID:26355001   PMID:27612022   PMID:28222767   PMID:28514442   PMID:32296183  


Genomics

Comparative Map Data
SLC41A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1205,789,094 - 205,813,748 (-)EnsemblGRCh38hg38GRCh38
GRCh381205,789,095 - 205,813,759 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371205,758,223 - 205,782,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,024,844 - 204,048,784 (-)NCBINCBI36hg18NCBI36
Build 341202,489,878 - 202,513,818NCBI
Celera1178,894,473 - 178,918,404 (-)NCBI
Cytogenetic Map1q32.1NCBI
HuRef1176,922,911 - 176,946,834 (-)NCBIHuRef
CHM1_11207,181,729 - 207,205,652 (-)NCBICHM1_1
Slc41a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391131,755,236 - 131,776,601 (+)NCBIGRCm39mm39
GRCm39 Ensembl1131,755,231 - 131,776,603 (+)Ensembl
GRCm381131,828,012 - 131,848,863 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1131,827,493 - 131,848,865 (+)EnsemblGRCm38mm10GRCm38
MGSCv371133,724,589 - 133,745,440 (+)NCBIGRCm37mm9NCBIm37
MGSCv361133,655,523 - 133,676,409 (+)NCBImm8
Celera1134,432,506 - 134,453,353 (+)NCBICelera
Cytogenetic Map1E4NCBI
Slc41a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21343,270,792 - 43,291,162 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1343,270,792 - 43,291,162 (+)Ensembl
Rnor_6.01348,607,308 - 48,627,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1348,607,308 - 48,627,999 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01353,681,648 - 53,701,895 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41344,766,706 - 44,777,526 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11344,783,241 - 44,791,595 (+)NCBI
Celera1343,608,641 - 43,629,021 (+)NCBICelera
Cytogenetic Map13q13NCBI
Slc41a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540641,481,831 - 41,502,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540641,481,831 - 41,502,992 (-)NCBIChiLan1.0ChiLan1.0
SLC41A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11185,681,822 - 185,706,424 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1185,681,822 - 185,705,844 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01181,398,145 - 181,422,830 (-)NCBIMhudiblu_PPA_v0panPan3
SLC41A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1382,216,378 - 2,239,303 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl382,218,706 - 2,236,672 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha382,309,253 - 2,332,189 (-)NCBI
ROS_Cfam_1.0382,213,651 - 2,236,582 (-)NCBI
UMICH_Zoey_3.1382,209,583 - 2,230,157 (-)NCBI
UNSW_CanFamBas_1.0382,599,591 - 2,622,513 (-)NCBI
UU_Cfam_GSD_1.0382,800,021 - 2,822,961 (-)NCBI
Slc41a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934469,400,750 - 69,421,846 (+)NCBI
SpeTri2.0NW_0049365576,640,197 - 6,662,128 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC41A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl966,473,341 - 66,499,805 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1966,473,369 - 66,500,367 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2972,739,718 - 72,766,654 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC41A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12523,536,187 - 23,560,182 (+)NCBI
ChlSab1.1 Ensembl2523,535,263 - 23,560,174 (+)Ensembl
Vero_WHO_p1.0NW_02366605524,230,986 - 24,255,631 (+)NCBI
Slc41a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248075,445,111 - 5,465,844 (+)NCBI

Position Markers
D1S2156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,769,393 - 205,769,593UniSTSGRCh37
Build 361204,036,016 - 204,036,216RGDNCBI36
Celera1178,905,638 - 178,905,838RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,934,076 - 176,934,276UniSTS
Whitehead-RH Map1864.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11846.2UniSTS
G59533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,769,398 - 205,769,589UniSTSGRCh37
Build 361204,036,021 - 204,036,212RGDNCBI36
Celera1178,905,643 - 178,905,834RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,934,081 - 176,934,272UniSTS
TNG Radiation Hybrid Map1101435.0UniSTS
SHGC-76247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,760,095 - 205,760,235UniSTSGRCh37
Build 361204,026,718 - 204,026,858RGDNCBI36
Celera1178,896,347 - 178,896,487RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,924,785 - 176,924,925UniSTS
TNG Radiation Hybrid Map1101409.0UniSTS
GeneMap99-GB4 RH Map1682.41UniSTS
NCBI RH Map11792.5UniSTS
SHGC-76236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,758,343 - 205,758,472UniSTSGRCh37
Build 361204,024,966 - 204,025,095RGDNCBI36
Celera1178,894,595 - 178,894,724RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,923,033 - 176,923,162UniSTS
TNG Radiation Hybrid Map1101428.0UniSTS
GeneMap99-GB4 RH Map1682.37UniSTS
Whitehead-RH Map1837.1UniSTS
SHGC-76224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,759,327 - 205,759,469UniSTSGRCh37
Build 361204,025,950 - 204,026,092RGDNCBI36
Celera1178,895,579 - 178,895,721RGD
Cytogenetic Map1q32.1UniSTS
HuRef1176,924,017 - 176,924,159UniSTS
TNG Radiation Hybrid Map1101428.0UniSTS
GeneMap99-GB4 RH Map1681.96UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2225
Count of miRNA genes:999
Interacting mature miRNAs:1219
Transcripts:ENST00000367137, ENST00000468057, ENST00000484000, ENST00000484228
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2019 2177 1302 116 732 57 3824 2100 3147 314 1370 1593 73 1125 2510 2
Low 417 757 420 504 1149 404 532 95 587 105 90 20 102 1 79 278 4 2
Below cutoff 2 57 4 4 65 4 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_173854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC119673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ514402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA496198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY148928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367137   ⟹   ENSP00000356105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1205,789,095 - 205,813,198 (-)Ensembl
RefSeq Acc Id: ENST00000468057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1205,789,094 - 205,801,488 (-)Ensembl
RefSeq Acc Id: ENST00000484000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1205,810,299 - 205,813,748 (-)Ensembl
RefSeq Acc Id: ENST00000484228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1205,790,920 - 205,796,616 (-)Ensembl
RefSeq Acc Id: NM_173854   ⟹   NP_776253
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,789,095 - 205,813,198 (-)NCBI
GRCh371205,758,221 - 205,782,887 (-)NCBI
Build 361204,024,844 - 204,048,784 (-)NCBI Archive
Celera1178,894,473 - 178,918,404 (-)RGD
HuRef1176,922,911 - 176,946,834 (-)ENTREZGENE
CHM1_11207,181,729 - 207,205,815 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245069   ⟹   XP_005245126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,789,101 - 205,813,759 (-)NCBI
GRCh371205,758,221 - 205,782,887 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_776253   ⟸   NM_173854
- UniProtKB: Q8IVJ1 (UniProtKB/Swiss-Prot),   B2RMP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245126   ⟸   XM_005245069
- Peptide Label: isoform X1
- UniProtKB: Q8IVJ1 (UniProtKB/Swiss-Prot),   B2RMP2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000356105   ⟸   ENST00000367137
Protein Domains
MgtE

Promoters
RGD ID:6786881
Promoter ID:HG_KWN:7030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000087731
Position:
Human AssemblyChrPosition (strand)Source
Build 361204,048,501 - 204,049,157 (-)MPROMDB
RGD ID:6858822
Promoter ID:EPDNEW_H2540
Type:initiation region
Name:SLC41A1_3
Description:solute carrier family 41 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2541  EPDNEW_H2542  EPDNEW_H2543  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,813,033 - 205,813,093EPDNEW
RGD ID:6858752
Promoter ID:EPDNEW_H2541
Type:initiation region
Name:SLC41A1_1
Description:solute carrier family 41 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2542  EPDNEW_H2543  EPDNEW_H2540  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,813,160 - 205,813,220EPDNEW
RGD ID:6858754
Promoter ID:EPDNEW_H2542
Type:initiation region
Name:SLC41A1_2
Description:solute carrier family 41 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2541  EPDNEW_H2543  EPDNEW_H2540  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,813,759 - 205,813,819EPDNEW
RGD ID:6858756
Promoter ID:EPDNEW_H2543
Type:multiple initiation site
Name:SLC41A1_4
Description:solute carrier family 41 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2541  EPDNEW_H2542  EPDNEW_H2540  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381205,813,883 - 205,813,943EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2
pathogenic
NM_173854.5(SLC41A1):c.1408C>T (p.Arg470Trp) single nucleotide variant Malignant melanoma [RCV000060061] Chr1:205791667 [GRCh38]
Chr1:205760795 [GRCh37]
Chr1:204027418 [NCBI36]
Chr1:1q32.1
not provided
NM_173854.5(SLC41A1):c.423G>C (p.Ala141=) single nucleotide variant Malignant melanoma [RCV000060062] Chr1:205801010 [GRCh38]
Chr1:205770138 [GRCh37]
Chr1:204036761 [NCBI36]
Chr1:1q32.1
not provided
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autistic disorder of childhood onset [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2
likely pathogenic
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
GRCh37/hg19 1q32.1(chr1:205759212-205790514)x1 copy number loss not provided [RCV000848081] Chr1:205759212..205790514 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q32.1(chr1:205759212-205790514)x1 copy number loss not provided [RCV000849627] Chr1:205759212..205790514 [GRCh37]
Chr1:1q32.1
uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_173854.6(SLC41A1):c.698G>T (p.Gly233Val) single nucleotide variant NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2 [RCV001554331] Chr1:205798815 [GRCh38]
Chr1:205767943 [GRCh37]
Chr1:1q32.1
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_173854.6(SLC41A1):c.1073-34C>T single nucleotide variant not provided [RCV001540981] Chr1:205795512 [GRCh38]
Chr1:205764640 [GRCh37]
Chr1:1q32.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19429 AgrOrtholog
COSMIC SLC41A1 COSMIC
Ensembl Genes ENSG00000133065 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000356105 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367137 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000133065 GTEx
HGNC ID HGNC:19429 ENTREZGENE
Human Proteome Map SLC41A1 Human Proteome Map
InterPro SLC41_membr_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC41_membr_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:254428 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 254428 ENTREZGENE
OMIM 610801 OMIM
  619468 OMIM
Pfam MgtE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134889327 PharmGKB
Superfamily-SCOP SSF161093 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RMP2 ENTREZGENE, UniProtKB/TrEMBL
  Q8IVJ1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A024R988 UniProtKB/TrEMBL
  Q63HJ4 UniProtKB/Swiss-Prot
  Q658Z5 UniProtKB/Swiss-Prot
  Q659A4 UniProtKB/Swiss-Prot
  Q6MZK2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC41A1  solute carrier family 41 member 1    solute carrier family 41 (magnesium transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC41A1  solute carrier family 41 (magnesium transporter), member 1    solute carrier family 41, member 1  Symbol and/or name change 5135510 APPROVED