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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMIM1 Gene

protein-coding   GIFtS: 26
GCID: GC01P003691

small integral membrane protein 1
  Search for SMIM1
in
MalaCards
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 Human Malady Compendium 
Biological research products
for SMIM1    

Aliases
for SMIM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Small Integral Membrane Protein 11 2

External Ids:    HGNC: 442041   Entrez Gene: 3885882   Ensembl: ENSG000002351697   UniProtKB: B2RUZ43   

Export aliases for SMIM1 gene to outside databases


Summaries
for SMIM1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for SMIM1 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_000001.10  NC_018912.1  NT_004350.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SMIM1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMIM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMIM1


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

Entrez Gene cytogenetic band: 1p36.32   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36.32

SMIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMIM1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P003691:  view genomic region     (about GC identifiers)

Start:
 3,689,352 bp from pter      End:
 3,692,546 bp from pter
Size:
 3,195 bases      Orientation:
 plus strand

Proteins
for SMIM1 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: SMIM1_HUMAN, B2RUZ4 (See protein sequence)
Recommended Name: Small integral membrane protein 1  
Size: 78 amino acids; 8749 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for SMIM1: NX_B2RUZ4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_B2RUZ4

    • SMIM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001157196.1  
    ENSEMBL proteins: 
     ENSP00000457386   ENSP00000457674   ENSP00000456559  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    SMIM1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SMIM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: B2RUZ4


    Function
    for SMIM1 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
    miRNA
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    Pathways & Interactions
    for SMIM1 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 SMIM1

    Drugs & Compounds
    for SMIM1 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMIM1
    Search CenterWatch for drugs/clinical trials and news about SMIM1 

    Transcripts
    for SMIM1 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,
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    About This Section
    REFSEQ mRNAs for SMIM1 gene: 
    NM_001163724.1  

    Unigene Cluster for SMIM1:

    Small integral membrane protein 1
    Hs.22047  [show with all ESTs]
    Unigene Representative Sequence: BG766623
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444870(uc001akw.4) ENST00000452264 ENST00000561886

    miRNA
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    Inhib. RNA
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    Additional cDNA sequence: 

    BC035379.1 BC042129.1 BC146945.1 BC146957.1 

    2 DOTS entries:

    DT.87015199  DT.65286603 

    24/31 AceView cDNA sequences (see all 31):

    AW135328 AI678212 BC035379 AI248719 AI492418 AI990490 BC042129 AI655104 
    BI517341 AI492479 AW271230 AI565997 BX283121 AW001804 AI984424 BE672872 
    BE504634 BG764955 AI078360 BE466869 AW593551 AW027483 BE504645 BI517955 

    GeneLoc Exon Structure


    Expression
    for SMIM1 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
    		 See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --


    SMIM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Extraembryonic endoderm-like cells (Generation of extrae...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SMIM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMIM1

    SOURCE GeneReport for Unigene cluster: Hs.22047
        SABiosciences Custom PCR Arrays for SMIM1
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    In Situ
    Assay Products:     
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    Orthologs
    for SMIM1 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 human and mouse.

    Orthologs for SMIM1 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Smim11 , 5 RIKEN cDNA 1190007F08 gene5
    small integral membrane protein 11    		 82.48(n)1
    80.77(a)1    		   4 (83.79 cM)5
    688591  NM_001163721.11  NP_001157193.11 
     1540205885 


    ENSEMBL Gene Tree for SMIM1 (if available)
    TreeFam Gene Tree for SMIM1 (if available) 

    Paralogs
    for SMIM1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SMIM1 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

    10/73 NCBI SNPs in SMIM1 are shown (see all 73)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1504373261,2
    		--3688827(+) CTGCAC/GCCGGG 1 -- us2k10--------
    rs1152284211,2
    		F,--3688849(+) CTGGGA/GGGCTC 1 -- us2k13Minor allele frequency- G:0.17WA NA EA 358
    rs1895771891,2
    		--3689075(+) CAGGCA/GCCTCC 1 -- us2k10--------
    rs22758191,2
    		C,F,H,--3689408(-) AGTCGC/TACCTG 1 -- int117Minor allele frequency- T:0.31EA NS NA 3580
    rs1474101631,2
    		--3689545(+) TGGCT-/GGCTGG 1 -- int10--------
    rs1914220671,2
    		--3689547(+) GGCTGC/GTGGGG 1 -- int10--------
    rs1382059581,2
    		--3689834(+) AGCCCC/TCAGGA 1 -- int10--------
    rs349614621,2
    		C,F,--3689852(+) GGATCC/TGGGAG 1 -- int15Minor allele frequency- T:0.14NA WA 244
    rs28403271,2
    		C,A,H,--3689889(-) GGAACC/TCATCA 1 -- int16Minor allele frequency- T:0.22NA WA EA 364
    rs1491499491,2
    		--3690086(+) CGGGAA/GGCCCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SMIM1 (3689352 - 3692546 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SMIM1: --

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SMIM1 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
    		   --

    Publications
    for SMIM1 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 SMIM1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SMIM1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    3. 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. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for SMIM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SMIM1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 388588 HGNC: 44204 AceView: LOC388588 Ensembl:ENSG00000235169 euGenes: HUgn388588
    ECgene: SMIM1 H-InvDB: SMIM1

    Other Databases showing SMIM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMIM1 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
    		   --

    Intellectual Property
    for SMIM1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMIM1 gene:
    Search GeneIP for patents involving SMIM1

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



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    About This Section

     
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