SMIM47 (small integral membrane protein 47) - Rat Genome Database

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Gene: SMIM47 (small integral membrane protein 47) Homo sapiens
Analyze
Symbol: SMIM47
Name: small integral membrane protein 47
RGD ID: 16563219
HGNC Page HGNC:53452
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AC010325.1; CTD-2568A17.1; LOC105372440; novel protein; uncharacterized LOC105372440; uncharacterized protein LOC105372440
RGD Orthologs
Mouse
Rat
Dog
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,785,728 - 50,786,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,776,141 - 50,793,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,288,985 - 51,289,417 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.33NCBI
CHM1_11951,281,141 - 51,291,257 (-)NCBICHM1_1
T2T-CHM13v2.01953,875,222 - 53,875,654 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

References

Genomics

Comparative Map Data
SMIM47
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381950,785,728 - 50,786,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1950,776,141 - 50,793,142 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,288,985 - 51,289,417 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.33NCBI
CHM1_11951,281,141 - 51,291,257 (-)NCBICHM1_1
T2T-CHM13v2.01953,875,222 - 53,875,654 (-)NCBIT2T-CHM13v2.0
Gm15517
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39743,910,865 - 43,911,315 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl743,910,871 - 43,911,315 (+)EnsemblGRCm39 Ensembl
GRCm38744,261,441 - 44,261,891 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,261,447 - 44,261,891 (+)EnsemblGRCm38mm10GRCm38
MGSCv37751,516,849 - 51,517,261 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,129,520 - 44,129,933 (+)NCBIMGSCv36mm8
Celera739,719,688 - 39,722,001 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.78NCBI
Smim47
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81103,881,242 - 103,881,667 (+)NCBIGRCr8
mRatBN7.2194,744,635 - 94,746,122 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl194,744,661 - 94,747,123 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,130,112 - 100,130,537 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01108,602,752 - 108,603,177 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01101,893,187 - 101,893,612 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,234,593 - 100,236,057 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
RGSC_v3.4194,727,922 - 94,728,347 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera189,011,236 - 89,012,700 (+)NCBICelera
Cytogenetic Map1q22NCBI
SMIM47
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,059,000 - 106,059,515 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,633,827 - 105,634,256 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,571,170 - 106,571,599 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,571,170 - 106,571,599 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,243,695 - 106,244,124 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,885,190 - 105,885,619 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,725,804 - 106,726,233 (+)NCBIUU_Cfam_GSD_1.0
SMIM47
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,833,208 - 43,833,506 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607323,854,232 - 23,873,914 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:444
Count of miRNA genes:387
Interacting mature miRNAs:422
Transcripts:ENST00000562076, ENST00000563228
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 adipose tissue appendage entire extraembryonic component
High
Medium 355 1
Low 114 34 55 28 383 30 373 54 157 57 244 191 4 22 137 2
Below cutoff 1662 1736 1073 320 865 212 3041 1187 2590 195 688 1004 112 882 1913 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000562076   ⟹   ENSP00000489871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,785,728 - 50,786,160 (-)Ensembl
RefSeq Acc Id: ENST00000563228   ⟹   ENSP00000489954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,776,141 - 50,786,117 (-)Ensembl
RefSeq Acc Id: ENST00000636757   ⟹   ENSP00000489695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1950,785,731 - 50,793,142 (-)Ensembl
RefSeq Acc Id: NM_001384597   ⟹   NP_001371526
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381950,785,728 - 50,786,160 (-)NCBI
T2T-CHM13v2.01953,875,222 - 53,875,654 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001371526 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein ACX48439 (Get FASTA)   NCBI Sequence Viewer  
  D0EPY3 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489695.1
  ENSP00000489871
  ENSP00000489871.1
  ENSP00000489954.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000489695   ⟸   ENST00000636757
RefSeq Acc Id: ENSP00000489871   ⟸   ENST00000562076
RefSeq Acc Id: ENSP00000489954   ⟸   ENST00000563228
RefSeq Acc Id: NP_001371526   ⟸   NM_001384597
- UniProtKB: D0EPY3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1B0GTG8-F1-model_v2 AlphaFold A0A1B0GTG8 1-36 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC SMIM47 COSMIC
Ensembl Genes ENSG00000261341 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000562076 ENTREZGENE
  ENST00000562076.2 UniProtKB/Swiss-Prot
  ENST00000563228.5 UniProtKB/Swiss-Prot
  ENST00000636757.1 UniProtKB/TrEMBL
GTEx ENSG00000261341 GTEx
HGNC ID HGNC:53452 ENTREZGENE
Human Proteome Map SMIM47 Human Proteome Map
NCBI Gene LOC105372440 ENTREZGENE
UniProt A0A1B0GTG8_HUMAN UniProtKB/TrEMBL
  D0EPY3 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-09-26 SMIM47  small integral membrane protein 47  AC010325.1  uncharacterized LOC105372440  Symbol and/or name change 19259463 PROVISIONAL
2021-02-23 AC010325.1  uncharacterized LOC105372440  AC010325.1  novel protein  Symbol and/or name change 19259462 PROVISIONAL
2020-07-02 AC010325.1  novel protein  LOC105372440  uncharacterized LOC105372440  Symbol and/or name change 19259462 PROVISIONAL
2020-06-30 LOC105372440  uncharacterized LOC105372440  AC010325.1  novel protein  Symbol and/or name change 5135510 APPROVED
2020-06-25 AC010325.1  novel protein  LOC105372440  uncharacterized LOC105372440  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC105372440  uncharacterized LOC105372440  AC010325.1  novel protein  Symbol and/or name change 5135510 APPROVED