SMCR7 Gene
protein-coding GIFtS: 46
GCID: GC17P018163
|
|
Smith-Magenis syndrome chromosome region, candidate 7
| |
Aliases
for SMCR7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Smith-Magenis Syndrome Chromosome Region, Candidate 71 2 | | MGC231301 | | Mitochondrial Dynamic Protein Of 49 KDa2 3 | | MiD491 | | MID492 3 | | Mitochondrial Dynamic Protein MID492 | | Smith-Magenis Syndrome Chromosomal Region Candidate Gene 7 Protein2 3 | | |
Export aliases for SMCR7 gene to outside databasesPrevious GC identifers: GC17P018408 GC17P019536 GC17P018106 GC17P018364 GC17P018104 GC17P017917 |
Summaries
for SMCR7 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SMCR7:
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology.It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The geneis located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multipletranscript variants encoding different isoforms. (provided by RefSeq, Jun 2011)
UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03Function: Mitochondrial outer membrane protein which regulates mitochondrial morphology. Mitochondrial morphology iscontrolled by two opposites processes: fusion and fission. Can directly recruit the fission mediator dynamin-relatedprotein 1 (DNM1L) to the mitochondrial surface
|
Genomic Views
for SMCR7 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SMCR7 gene promoter:
AREB6 SREBP-1a Pax-5 Nkx5-1 Evi-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for SMCR7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMCR7 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p11.2 Ensembl cytogenetic band: 17p11.2 HGNC cytogenetic band: 17p11.2SMCR7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P018163: view genomic region
(about GC identifiers)
Start:
|
18,163,848 bp from pter |
End:
|
18,169,866 bp from pter |
Size:
|
6,019 bases |
Orientation:
|
plus strand |
|
Proteins
for SMCR7 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03 (See
protein sequence)Recommended Name: Mitochondrial dynamic protein MID49 Size: 454 amino acids; 49269 Da
Subunit: Interacts with DNM1L
Subcellular location: Mitochondrion outer membrane; Single-pass membrane protein. Note=Colocalizes with DNM1L atmitochondrial membrane. Forms foci and rings around mitochondria
Secondary accessions: Q6ZRD4 Q96N07Alternative splicing: 2 isoforms: Q96C03-1 Q96C03-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for SMCR7: NX_Q96C03
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96C03
SMCR7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001138372.1 NP_631901.2 NP_683684.2
ENSEMBL proteins: ENSP00000323591 ENSP00000463015 ENSP00000379056 ENSP00000379055 ENSP00000464017 ENSP00000465801 ENSP00000379057
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005741 | mitochondrial outer membrane |
IDA | -- | | GO:0016021 | integral to membrane |
IEA | -- |
SMCR7 for ontologies About GeneDecksing
SMCR7 Antibody Products:
Assay Products for SMCR7: |
Protein
Domains /
Families
for SMCR7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SMCR7 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96C03ProtoNet protein and cluster: Q96C03 UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03Similarity: Belongs to the MID49/MID51 family |
Function
for SMCR7 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03Function: Mitochondrial outer membrane protein which regulates mitochondrial morphology. Mitochondrial morphology iscontrolled by two opposites processes: fusion and fission. Can directly recruit the fission mediator dynamin-relatedprotein 1 (DNM1L) to the mitochondrial surface
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR7 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR7 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
SMCR7 for ontologies About GeneDecksing
|
Pathways & Interactions
for SMCR7 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMCR7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/8 Interacting proteins for SMCR7 (Q96C031, 2, 3 ENSP000003790574) via UniProtKB, MINT, STRING, and/or I2D (see all 8)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| DNM1L | O004292, 3, ENSP000002664814 | MINT-8185615 MINT-8185580 MINT-8185597 I2D:
score=1 STRING: ENSP00000266481 | | TOMM20 | Q153882, 3, ENSP000003555664 | MINT-8185565 I2D:
score=1 STRING: ENSP00000355566 | | RABAC1 | Q9UI141, 3, ENSP000002220084 | EBI-750153,EBI-712367 I2D:
score=3 STRING: ENSP00000222008 | | UBQLN4 | Q9NRR52, 3, ENSP000003572924 | MINT-2878570 I2D:
score=3 STRING: ENSP00000357292 | | UBQLN1 | Q9UMX03, ENSP000003655764 | I2D:
score=3 STRING: ENSP00000365576 |
About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007005 | mitochondrion organization |
IDA | -- |
SMCR7 for ontologies About GeneDecksing
|
Drugs & Compounds
for SMCR7 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SMCR7
Search CenterWatch for drugs/clinical trials and news about SMCR7 / MID49
|
Transcripts
for SMCR7 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SMCR7 gene (3 alternative transcripts): NM_001144900.1 NM_139162.3 NM_148886.1 Unigene Cluster for SMCR7: Smith-Magenis syndrome chromosome region, candidate 7 Hs.655555 [show with all ESTs]Unigene Representative Sequence: AK1283109 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000323019(uc002gsu.3 uc002gst.3) ENST00000578174 ENST00000395704
ENST00000395703 ENST00000577216 ENST00000578621 ENST00000579341 ENST00000583745
ENST00000395706(uc010vxq.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMCR7 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: SMCR7 (NM_019008) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SMCR7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMCR7 |
Additional cDNA sequence: AF467443.1 AK056165.1 AK128310.1 BC014973.1 BC035292.1 6 DOTS entries: DT.100741869 DT.95372839 DT.99957582 DT.91938167 DT.120939454 DT.120939458 24/56 AceView cDNA sequences (see all 56): BU753759 BU930992 BU623276 AK056165 CR611025 BU556862 NM_139162 CD636769 BE312163 BU844438 NM_148886 BM541891 AW296884 AK128310 CD636767 BC035292 AF467443 BX327469 AL559470 AI860704 BG827145 BG762276 BI823178 BQ072667
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SMCR7 (see all 9) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | | | | | | | - | | - | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | - | | | | | | | | | | - | | - | | - | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | - | | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | | | | | | | - | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for SMCR7
|
Expression
for SMCR7 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SMCR7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTCTAATG
About this image
See SMCR7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMCR7
SOURCE GeneReport for Unigene cluster: Hs.655555
UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03Tissue specificity: Expressed in all tissues tested with highest expression in heart and skeletal muscle
SABiosciences Custom PCR Arrays for SMCR7
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SMCR7
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR7 |
Orthologs
for SMCR7 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for SMCR7 gene from 3/10 species (see all 10) About this table
ENSEMBL Gene Tree for SMCR7 (if available)
TreeFam Gene Tree for SMCR7 (if available) |
Paralogs
for SMCR7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SMCR7 gene
- SMCR7L2
3 SIMAP similar genes for SMCR7 using alignment to 7 protein entries: MID49_HUMAN (see all proteins):DKFZp434F0116 SMCR7L DKFZp434E0130
SMCR7 for paralogs About GeneDecksing
|
Genomic Variants
for SMCR7 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SMCR7 (18163848 - 18169866 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SMCR7
1 CNV: 30807
1 Inversion: 0495 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMCR7 |
|
Disorders
/ Diseases
for SMCR7 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SMCR7 for disorders About GeneDecksing
2  diseases for SMCR7: About MalaCardssmith-magenis syndrome ataxia
Export disorders for SMCR7 gene to outside databases
|
Publications
for SMCR7 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SMCR7 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with SMCR7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- MiD49 and MiD51, new components of the mitochondrial fission machinery. (PubMed id 21508961)1, 2, 3 Palmer C.S....Ryan M.T. (2011)
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)1, 2, 3 Bi W....Lupski J.R. (2002)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (PubMed id 16713569)1 Lim J.... Zoghbi H.Y. (2006)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
|
External Searches for SMCR7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SMCR7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SMCR7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SMCR7 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SMCR7 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SMCR7 gene:
Search GeneIP for patents involving SMCR7
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SMCR7 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCR7 |
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