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SMIM7 Gene

protein-coding   GIFtS: 29
GCID: GC19M016742

Small Integral Membrane Protein 7

(Previous name: chromosome 19 open reading frame 42)
(Previous symbol: C19orf42)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Small Integral Membrane Protein 71 2
C19orf421 2 3
Chromosome 19 Open Reading Frame 421
UPF0608 Protein C19orf422

External Ids:    HGNC: 284191   Entrez Gene: 790862   Ensembl: ENSG000002140467   UniProtKB: Q9BQ493   

Export aliases for SMIM7 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SMIM7 Gene:
SMIM7 (small integral membrane protein 7) is a protein-coding gene. An important paralog of this gene is ENSG00000268790.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SMIM7
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMIM7 promoter sequence
   Search Chromatin IP Primers for SMIM7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SMIM7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

SMIM7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMIM7 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M016742:  view genomic region     (about GC identifiers)

Start:
16,741,562 bp from pter      End:
16,771,253 bp from pter
Size:
29,692 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SMIM7_HUMAN, Q9BQ49 (See protein sequence)
Recommended Name: Small integral membrane protein 7 precursor  
Size: 75 amino acids; 8631 Da
Secondary accessions: A8MX44

Explore the universe of human proteins at neXtProt for SMIM7: NX_Q9BQ49

Explore proteomics data for SMIM7 at MOPED


See SMIM7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_077009.2  
ENSEMBL proteins: 
 ENSP00000432842   ENSP00000433833   ENSP00000471293   ENSP00000469440   ENSP00000472562  
 ENSP00000469962   ENSP00000417147   ENSP00000437332   ENSP00000471355   ENSP00000470601  
 ENSP00000469918   ENSP00000470899   ENSP00000471391   ENSP00000436448   ENSP00000435127  
 ENSP00000351569  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9BQ49

UniProtKB/Swiss-Prot: SMIM7_HUMAN, Q9BQ49
Similarity: Belongs to the SMIM7 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMIM7
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
SMIM7_HUMAN, Q9BQ49: Membrane; Single-pass type I membrane protein (Potential)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with SMIM7           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SMIM7
Interactions:

    Search GeneGlobe Interaction Network for SMIM7

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for SMIM7 (ENSP000004171474) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ELAVL1ENSP000003852694STRING: ENSP00000385269
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SMIM7



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SMIM7 gene: 
NM_024104.3  

Unigene Cluster for SMIM7:

Small integral membrane protein 7
Hs.356467  [show with all ESTs]
Unigene Representative Sequence: BX648276
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
ENST00000599872 ENST00000465250 ENST00000481671 ENST00000594662 ENST00000597781
ENST00000598278 ENST00000593409 ENST00000487416(uc002ner.3 uc021uqf.1)
ENST00000487803(uc021uqe.1) ENST00000593404 ENST00000597711 ENST00000599310
ENST00000397349 ENST00000602194 ENST00000600740 ENST00000463051 ENST00000461488
ENST00000358726
miRNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat SMIM7

Additional mRNA sequence: 

BC000817.1 BC001680.2 BC001948.1 BX648276.1 

Selected DOTS entries (see all 30):

DT.99979785  DT.95079517  DT.100879278  DT.100677808  DT.445705  DT.99999102  DT.95160092  DT.100727469 
DT.87012413  DT.95095751  DT.95160095  DT.121500696  DT.95160077  DT.100700529  DT.100879282  DT.75102032 
DT.100714455  DT.100696928  DT.100772615  DT.100772723  DT.100879289  DT.121500529  DT.121500660  DT.427354 

Selected AceView cDNA sequences (see all 547):

BM263983 AI270078 BQ130388 CA419060 AI283624 BQ670303 BU727485 AA758592 
AW470607 BU736291 BM710688 CR625214 AW664883 CR597307 AI262324 AL528717 
AI302704 BE044193 BU076246 BU625159 CF127165 CB135323 CK299863 BX342426 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SMIM7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SMIM7 Expression
About this image

SMIM7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SMIM7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.356467
    Custom PCR Arrays for SMIM7
Primer
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QuantiFast Probe-based Assays in human, mouse, rat SMIM7
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMIM7

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for SMIM7 gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Smim71 , 5 RIKEN cDNA 9130011J15 gene5
small integral membrane protein 71
85.78(n)1
96(a)1
  8 (35.08 cM)5
668181  NM_172396.31  NP_765984.11 
 725651885 
chicken
(Gallus gallus)
Aves C28H19ORF421 chromosome 28 open reading frame, human C19orf42 79.56(n)
82.67(a)
  420141  XM_418258.4  XP_418258.2 
tropical clawed frog
(Xenopus tropicalis)
Amphibia smim71 small integral membrane protein 7 76.89(n)
86.67(a)
  394942  NM_203986.2  NP_989317.1 
zebrafish
(Danio rerio)
Actinopterygii smim71 small integral membrane protein 7 74.22(n)
86.67(a)
  100093704  NM_001198743.1  NP_001185672.1 


ENSEMBL Gene Tree for SMIM7 (if available)
TreeFam Gene Tree for SMIM7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SMIM7 gene
ENSG000002687902  

Find genes that share paralogs with SMIM7           About GenesLikeMe


1 Pseudogenes.org Pseudogene for SMIM7
PGOHUM00000240011


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SMIM7 (see all 289)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs58273401,2
C--16756490(+) ttttg-/G/TTTG
        
agaca
1 -- ds50011CSA 2
rs680184731,2
C,F--16756490(+) TTTTTG/TGAGAC 1 -- ds50013Minor allele frequency- T:0.40WA NA CSA 5
rs1399670401,2
--16756514(+) CTCACC/TCAGGC 1 -- ds50010--------
rs1454956991,2
--16756559(+) CCTCCA/GCCTCC 1 -- ds50010--------
rs1476965891,2
--16756598(+) CACCCA/GAGTAG 1 -- ds50010--------
rs1817785401,2
--16756676(+) CCATGC/TTGGCC 1 -- ds50010--------
rs81049491,2
C--16756725(+) acctcA/Ggcctc 1 -- ds50010--------
rs1873818691,2
--16756765(+) ACTGCA/GCGCAG 1 -- ds50010--------
rs1917533481,2
C--16756792(+) CTTGAC/TCATCA 1 -- ds50010--------
rs104112301,2
C,F,H--16756976(+) ATGAGG/ATTTAT 1 -- ut3120Minor allele frequency- A:0.18NS EA NA WA CSA 2328

HapMap Linkage Disequilibrium report for SMIM7 (16741562 - 16771253 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for SMIM7: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing SMIM7
DNA2.0 Custom Variant and Variant Library Synthesis for SMIM7

(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.)
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  --

(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)
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PubMed articles for SMIM7 gene integrated from 10 sources:
(articles sorted by number of sources associating them with SMIM7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
  3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79086 HGNC: 28419 AceView: MGC2747 Ensembl:ENSG00000214046 euGenes: HUgn79086
ECgene: SMIM7 H-InvDB: SMIM7

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SMIM7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SMIM7 gene:
Search GeneIP for patents involving SMIM7

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Custom Antibody / Protein Production Service
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 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for SMIM7
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMIM7
 SwitchGear 3'UTR luciferase reporter plasmids for SMIM7
 SwitchGear Promoter luciferase reporter plasmids for SMIM7
 Search ThermoFisher Antibodies for SMIM7
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SMIM7
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMIM7
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMIM7
 Search LSBio for Antibodies for SMIM7
Customized transgenic rodents for:
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 Tissue-specific gene expresssion
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 Browse compounds at ApexBio
 Search Addgene for plasmids for SMIM7
  Search eBioscience for proteins for SMIM7
  Search eBioscience for elisas for SMIM7
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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