SLC25A33 (solute carrier family 25 member 33) - Rat Genome Database

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Gene: SLC25A33 (solute carrier family 25 member 33) Homo sapiens
Analyze
Symbol: SLC25A33
Name: solute carrier family 25 member 33
RGD ID: 1604265
HGNC Page HGNC
Description: Enables pyrimidine nucleotide transmembrane transporter activity. Involved in several processes, including cellular response to peptide hormone stimulus; mitochondrion organization; and pyrimidine nucleotide import into mitochondrion. Predicted to be located in mitochondrial membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: BMSC-MCP; bone marrow stromal cell mitochondrial carrier protein; huBMSC-MCP; MGC4399; mitochondrial carrier protein; novel mitochondrial carrier protein; PNC1; solute carrier family 25 (pyrimidine nucleotide carrier), member 33; solute carrier family 25, member 33
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC653698  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19,539,465 - 9,585,173 (+)EnsemblGRCh38hg38GRCh38
GRCh3819,539,465 - 9,585,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,599,524 - 9,645,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,522,115 - 9,565,418 (+)NCBINCBI36hg18NCBI36
Celera18,705,513 - 8,748,776 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef18,749,879 - 8,793,232 (+)NCBIHuRef
CHM1_119,588,092 - 9,631,383 (+)NCBICHM1_1
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
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chrysene  (ISO)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
dibenz[a,h]anthracene  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
diuron  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
glutathione  (ISO)
leflunomide  (EXP,ISO)
mercury dichloride  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
pirinixic acid  (EXP,ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12887330   PMID:14715278   PMID:16949250   PMID:17596519   PMID:20453889   PMID:20877624   PMID:21873635   PMID:21900206   PMID:23266187   PMID:25320081   PMID:25437307  
PMID:26344197   PMID:28514442  


Genomics

Comparative Map Data
SLC25A33
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19,539,465 - 9,585,173 (+)EnsemblGRCh38hg38GRCh38
GRCh3819,539,465 - 9,585,173 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719,599,524 - 9,645,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,522,115 - 9,565,418 (+)NCBINCBI36hg18NCBI36
Celera18,705,513 - 8,748,776 (+)NCBI
Cytogenetic Map1p36.22NCBI
HuRef18,749,879 - 8,793,232 (+)NCBIHuRef
CHM1_119,588,092 - 9,631,383 (+)NCBICHM1_1
Slc25a33
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394149,828,493 - 149,858,746 (-)NCBIGRCm39mm39
GRCm39 Ensembl4149,828,493 - 149,858,734 (-)Ensembl
GRCm384149,744,036 - 149,774,267 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4149,744,036 - 149,774,277 (-)EnsemblGRCm38mm10GRCm38
MGSCv374149,118,145 - 149,148,376 (-)NCBIGRCm37mm9NCBIm37
MGSCv364148,588,275 - 148,617,987 (-)NCBImm8
Celera4152,010,383 - 152,042,111 (-)NCBICelera
Cytogenetic Map4E2NCBI
Slc25a33
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25160,195,040 - 160,219,961 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5160,195,042 - 160,219,961 (-)Ensembl
Rnor_6.05166,701,463 - 166,726,794 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5166,701,465 - 166,726,794 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05170,345,877 - 170,371,208 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45166,836,557 - 166,861,525 (-)NCBIRGSC3.4rn4RGSC3.4
Celera5158,464,162 - 158,489,066 (-)NCBICelera
Cytogenetic Map5q36NCBI
Slc25a33
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554863,905,001 - 3,921,505 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554863,905,001 - 3,921,501 (-)NCBIChiLan1.0ChiLan1.0
SLC25A33
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119,493,787 - 9,574,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19,541,918 - 9,574,549 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v018,300,384 - 8,343,270 (+)NCBIMhudiblu_PPA_v0panPan3
SLC25A33
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1562,790,116 - 62,825,644 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl562,790,157 - 62,825,388 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha562,805,827 - 62,841,429 (+)NCBI
ROS_Cfam_1.0563,016,611 - 63,052,345 (+)NCBI
UMICH_Zoey_3.1563,038,606 - 63,074,205 (+)NCBI
UNSW_CanFamBas_1.0562,877,358 - 62,913,252 (+)NCBI
UU_Cfam_GSD_1.0563,281,618 - 63,317,240 (+)NCBI
Slc25a33
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505833,096,589 - 33,118,280 (+)NCBI
SpeTri2.0NW_0049366233,585,372 - 3,603,515 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A33
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl669,934,834 - 69,969,084 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1669,934,810 - 69,969,091 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2664,148,523 - 64,168,519 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A33
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120122,187,366 - 122,220,903 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20122,187,637 - 122,220,661 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605426,153,642 - 26,197,329 (-)NCBIVero_WHO_p1.0
Slc25a33
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248182,838,700 - 2,868,672 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-74187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,642,559 - 9,642,663UniSTSGRCh37
Build 3619,565,146 - 9,565,250RGDNCBI36
Celera18,748,504 - 8,748,608RGD
Cytogenetic Map1p36.22UniSTS
HuRef18,792,960 - 8,793,064UniSTS
TNG Radiation Hybrid Map14608.0UniSTS
GeneMap99-GB4 RH Map135.21UniSTS
SGC32104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,642,686 - 9,642,816UniSTSGRCh37
Build 3619,565,273 - 9,565,403RGDNCBI36
Celera18,748,631 - 8,748,761RGD
Cytogenetic Map1p36.22UniSTS
HuRef18,793,087 - 8,793,217UniSTS
Whitehead-RH Map131.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:907
Count of miRNA genes:547
Interacting mature miRNAs:604
Transcripts:ENST00000302692
Prediction methods:Miranda, Rnahybrid
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 199 15 375 190 377 177 770 448 1407 87 638 332 17 255 416 2
Low 2239 2826 1351 434 1453 288 3585 1720 2326 326 821 1281 158 1 949 2371 3 2
Below cutoff 150 121 1 29 1 5 1 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000302692   ⟹   ENSP00000306328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,539,465 - 9,585,173 (+)Ensembl
RefSeq Acc Id: NM_032315   ⟹   NP_115691
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,539,465 - 9,585,173 (+)NCBI
GRCh3719,599,528 - 9,642,831 (+)RGD
GRCh3719,599,528 - 9,642,831 (+)NCBI
Build 3619,522,115 - 9,565,418 (+)NCBI Archive
Celera18,705,513 - 8,748,776 (+)RGD
HuRef18,749,879 - 8,793,232 (+)RGD
CHM1_119,588,092 - 9,631,383 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_115691   ⟸   NM_032315
- UniProtKB: Q9BSK2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306328   ⟸   ENST00000302692

Promoters
RGD ID:6786865
Promoter ID:HG_KWN:563
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032315,   UC001APX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,521,791 - 9,522,291 (+)MPROMDB
RGD ID:6854004
Promoter ID:EPDNEW_H167
Type:initiation region
Name:SLC25A33_1
Description:solute carrier family 25 member 33
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,539,489 - 9,539,549EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3 copy number gain See cases [RCV000141821] Chr1:9378480..10317912 [GRCh38]
Chr1:9438539..10377970 [GRCh37]
Chr1:9361126..10300557 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3 copy number gain See cases [RCV000143200] Chr1:8819278..9634691 [GRCh38]
Chr1:8879337..9694749 [GRCh37]
Chr1:8801924..9617336 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
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 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1 copy number loss not provided [RCV000684546] Chr1:7391956..9775929 [GRCh37]
Chr1:1p36.23-36.22
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
GRCh37/hg19 1p36.22(chr1:9597134-9600774)x1 copy number loss not provided [RCV000748891] Chr1:9597134..9600774 [GRCh37]
Chr1:1p36.22
benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29681 AgrOrtholog
COSMIC SLC25A33 COSMIC
Ensembl Genes ENSG00000171612 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306328 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000302692 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000171612 GTEx
HGNC ID HGNC:29681 ENTREZGENE
Human Proteome Map SLC25A33 Human Proteome Map
InterPro Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:84275 UniProtKB/Swiss-Prot
NCBI Gene 84275 ENTREZGENE
OMIM 610816 OMIM
Pfam Mito_carr UniProtKB/Swiss-Prot
PharmGKB PA162403588 PharmGKB
PROSITE SOLCAR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot
UniProt Q9BSK2 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC25A33  solute carrier family 25 member 33    solute carrier family 25 (pyrimidine nucleotide carrier), member 33  Symbol and/or name change 5135510 APPROVED
2012-04-03 SLC25A33  solute carrier family 25 (pyrimidine nucleotide carrier), member 33  SLC25A33  solute carrier family 25, member 33  Symbol and/or name change 5135510 APPROVED
2011-09-01 SLC25A33  solute carrier family 25, member 33  SLC25A33  solute carrier family 25, member 33  Symbol and/or name change 5135510 APPROVED