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Aliases for SMIM11A Gene

Aliases for SMIM11A Gene

  • Small Integral Membrane Protein 11A 2 3 5
  • Family With Sequence Similarity 165, Member B 2 3
  • Small Integral Membrane Protein 11 2 3
  • C21orf51 3 4
  • FAM165B 3 4
  • SMIM11 3 4
  • Chromosome 21 Open Reading Frame 51 2
  • Protein FAM165B 3
  • SMIM11B 3

External Ids for SMIM11A Gene

Previous HGNC Symbols for SMIM11A Gene

  • C21orf51
  • FAM165B
  • SMIM11

Summaries for SMIM11A Gene

GeneCards Summary for SMIM11A Gene

SMIM11A (Small Integral Membrane Protein 11A) is a Protein Coding gene. An important paralog of this gene is SMIM11B.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM11A Gene

Genomics for SMIM11A Gene

Regulatory Elements for SMIM11A Gene

Enhancers for SMIM11A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G034794 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +423.7 423700 9.8 FOXA2 PKNOX1 FEZF1 YY1 ZNF766 GATA2 ZNF548 TSHZ1 REST ZNF662 LINC01426 SMIM11A KCNE1 PIR43744 GC21M034823
GH21G034200 1.5 FANTOM5 ENCODE 10.5 -172.6 -172614 5.1 PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SMIM11A MRPS6 ENSG00000214955 GC21P034168
GH21G034931 1.4 Ensembl ENCODE dbSUPER 10.5 +559.4 559439 6.4 PKNOX1 ZFP64 ZNF23 ZNF766 CBX5 SCRT2 RELB FOS CREM ZNF263 C21orf140 SMIM11A GC21M034881 PIR39931 GC21M034865
GH21G034382 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +8.2 8236 2.5 BMI1 RAD21 RARA EGR1 ZNF143 ZNF207 FOS RELB ETV6 IKZF2 SMIM11A KCNE1 C21orf140
GH21G034205 1.2 FANTOM5 Ensembl 10.5 -169.2 -169185 0.9 GLI4 FEZF1 ZNF766 FOS YY2 JUNB ZNF662 CREB3 ZNF624 GLIS1 SMIM11A SLC5A3 MRPS6 GC21M034206 ENSG00000214955
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM11A on UCSC Golden Path with GeneCards custom track

Promoters for SMIM11A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000141683 250 1001 HDGF CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 ZNF143 SP3

Genomic Location for SMIM11A Gene

Chromosome:
21
Start:
34,375,450 bp from pter
End:
34,407,866 bp from pter
Size:
32,417 bases
Orientation:
Plus strand

Genomic View for SMIM11A Gene

Genes around SMIM11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM11A Gene

Proteins for SMIM11A Gene

  • Protein details for SMIM11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58511-SI11A_HUMAN
    Recommended name:
    Small integral membrane protein 11A
    Protein Accession:
    P58511

    Protein attributes for SMIM11A Gene

    Size:
    58 amino acids
    Molecular mass:
    6886 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM11A Gene

Post-translational modifications for SMIM11A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SMIM11A Gene

No data available for DME Specific Peptides for SMIM11A Gene

Domains & Families for SMIM11A Gene

Protein Domains for SMIM11A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58511

UniProtKB/Swiss-Prot:

SI11A_HUMAN :
  • Belongs to the SMIM11 family.
Family:
  • Belongs to the SMIM11 family.
genes like me logo Genes that share domains with SMIM11A: view

No data available for Gene Families for SMIM11A Gene

Function for SMIM11A Gene

Gene Ontology (GO) - Molecular Function for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SMIM11A: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SMIM11A Gene

Localization for SMIM11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM11A Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMIM11A gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM11A: view

Pathways & Interactions for SMIM11A Gene

SuperPathways for SMIM11A Gene

No Data Available

Interacting Proteins for SMIM11A Gene

Selected Interacting proteins: P58511-SI11A_HUMAN for SMIM11A Gene via IID

Gene Ontology (GO) - Biological Process for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SMIM11A: view

No data available for Pathways by source and SIGNOR curated interactions for SMIM11A Gene

Transcripts for SMIM11A Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM11A Gene

No ASD Table

Relevant External Links for SMIM11A Gene

GeneLoc Exon Structure for
SMIM11A
ECgene alternative splicing isoforms for
SMIM11A

Expression for SMIM11A Gene

NURSA nuclear receptor signaling pathways regulating expression of SMIM11A Gene:

SMIM11A

mRNA Expression by UniProt/SwissProt for SMIM11A Gene:

P58511-SI11A_HUMAN
Tissue specificity: Expressed in heart, spleen, liver, stomach, muscle, lung, testis, skin, PBL and bone marrow.

Evidence on tissue expression from TISSUES for SMIM11A Gene

  • Eye(4)
  • Nervous system(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM11A Gene

Orthologs for SMIM11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM165B 34
  • 99.43 (n)
SMIM11 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMIM11 35
  • 95 (a)
OneToOne
FAM165B 34
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Smim11 35
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMIM11 34 35
  • 79.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM11 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMIM11 35
  • 74 (a)
OneToOne
Species where no ortholog for SMIM11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SMIM11A Gene

ENSEMBL:
Gene Tree for SMIM11A (if available)
TreeFam:
Gene Tree for SMIM11A (if available)

Paralogs for SMIM11A Gene

Paralogs for SMIM11A Gene

Pseudogenes.org Pseudogenes for SMIM11A Gene

genes like me logo Genes that share paralogs with SMIM11A: view

Variants for SMIM11A Gene

Sequence variations from dbSNP and Humsavar for SMIM11A Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000433146 -- 34,379,902(+) TGAGC(C/T)TCCCA intron-variant
rs1000480507 -- 34,400,211(+) GAGGT(C/T)GCTGT intron-variant, utr-variant-3-prime
rs1000543679 -- 34,375,203(+) CCACC(C/T)TCCAG intron-variant, upstream-variant-2KB
rs1001007357 -- 34,390,815(+) CAGCC(-/T)TCCCG intron-variant
rs1001419236 -- 34,379,172(+) CCTCA(A/G)AAGCG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM11A Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
nsv1055429 CNV gain 25217958
nsv521323 CNV gain 19592680
nsv834088 CNV loss 17160897

Variation tolerance for SMIM11A Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMIM11A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM11A Gene

Disorders for SMIM11A Gene

Relevant External Links for SMIM11A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMIM11A

No disorders were found for SMIM11A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM11A Gene

Publications for SMIM11A Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  2. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PMID: 12036298) Gardiner K. … Davisson M. (Genomics 2002) 3 4 64
  3. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A. … Antonarakis S.E. (Genomics 2001) 3 4 64
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4 64
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64

Products for SMIM11A Gene

Sources for SMIM11A Gene

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