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Aliases for SMIM20 Gene

Aliases for SMIM20 Gene

  • Small Integral Membrane Protein 20 2 3 5
  • Mitochondrial Translation Regulation Assembly Intermediate Of Cytochrome C Oxidase Protein Of 7 KDa 3 4
  • Phoenixin 2 3
  • C4orf52 3 4
  • MITRAC7 3 4
  • Chromosome 4 Open Reading Frame 52 2
  • PNX 3

External Ids for SMIM20 Gene

Previous HGNC Symbols for SMIM20 Gene

  • C4orf52

Summaries for SMIM20 Gene

GeneCards Summary for SMIM20 Gene

SMIM20 (Small Integral Membrane Protein 20) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SMIM20 Gene

  • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover.

Additional gene information for SMIM20 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM20 Gene

Genomics for SMIM20 Gene

GeneHancer (GH) Regulatory Elements for SMIM20 Gene

Promoters and enhancers for SMIM20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I025858 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.4 420 8.2 ATF1 PKNOX1 SIN3A NCOA2 ZNF766 ATF7 RUNX3 SP3 ATF4 MAFF SEL1L3 SMIM20 LOC102723733 RBPJ ANAPC4 SLC34A2 ENSG00000251009
GH04I025912 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 585.1 +52.4 52449 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 SMIM20 LOC105374538 SEL1L3 ANAPC4 ZCCHC4 SEPSECS PIR49686
GH04I025919 Enhancer 0.9 ENCODE 28.7 +58.0 57997 1.2 HDGF FOXA2 ARID4B THRB RARA FOS CREM THAP11 ZEB2 PPARG PIR49686 SMIM20 SEL1L3 LOC105374538
GH04I025908 Enhancer 0.9 Ensembl ENCODE 26 +46.8 46768 1 SOX13 TFAP4 FOXA2 SAP130 JUN ARID4B ZNF140 ZNF644 FOSL1 FOXK2 ANAPC4 SMIM20 ZCCHC4 SEL1L3 STIM2 LOC105374538 GC04M025896
GH04I025879 Enhancer 0.7 dbSUPER 11.4 +17.8 17830 1 BCOR PKNOX1 ZMYM3 IRF4 ZFHX2 POLR2A ZNF207 IKZF2 RUNX3 EGR2 SEL1L3 SMIM20 ENSG00000251009 LOC102723733 GC04M025896
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMIM20 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SMIM20 Gene

Genomic Locations for SMIM20 Gene
chr4:25,861,830-25,929,879
(GRCh38/hg38)
Size:
68,050 bases
Orientation:
Plus strand
chr4:25,863,452-25,931,501
(GRCh37/hg19)

Genomic View for SMIM20 Gene

Genes around SMIM20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM20 Gene

Proteins for SMIM20 Gene

  • Protein details for SMIM20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5G0-SIM20_HUMAN
    Recommended name:
    Small integral membrane protein 20
    Protein Accession:
    Q8N5G0
    Secondary Accessions:
    • C9JYT8
    • Q9BRT5

    Protein attributes for SMIM20 Gene

    Size:
    67 amino acids
    Molecular mass:
    7702 Da
    Quaternary structure:
    • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3/MITRAC12 and COX4I1. Directly interacts with newly synthesized MT-CO1/COX1.
    SequenceCaution:
    • Sequence=AAH06003.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH32431.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMIM20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMIM20 Gene

Post-translational modifications for SMIM20 Gene

No Post-translational modifications

Other Protein References for SMIM20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMIM20 Gene

Domains & Families for SMIM20 Gene

Gene Families for SMIM20 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SMIM20 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SMIM20: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SMIM20 Gene

Function for SMIM20 Gene

Molecular function for SMIM20 Gene

UniProtKB/Swiss-Prot Function:
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C. Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover.

Phenotypes From GWAS Catalog for SMIM20 Gene

Gene Ontology (GO) - Molecular Function for SMIM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26321642
genes like me logo Genes that share ontologies with SMIM20: view

Animal Model Products

CRISPR Products

miRNA for SMIM20 Gene

miRTarBase miRNAs that target SMIM20

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMIM20 Gene

Localization for SMIM20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM20 Gene

Mitochondrion inner 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 SMIM20 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMIM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA,IDA 26321642
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM20: view

Pathways & Interactions for SMIM20 Gene

SuperPathways for SMIM20 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SMIM20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IDA 26321642
genes like me logo Genes that share ontologies with SMIM20: view

No data available for Pathways by source and SIGNOR curated interactions for SMIM20 Gene

Drugs & Compounds for SMIM20 Gene

No Compound Related Data Available

Transcripts for SMIM20 Gene

Unigene Clusters for SMIM20 Gene

Small integral membrane protein 20:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM20 Gene

No ASD Table

Relevant External Links for SMIM20 Gene

GeneLoc Exon Structure for
SMIM20
ECgene alternative splicing isoforms for
SMIM20

Expression for SMIM20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SMIM20 Gene

Protein differential expression in normal tissues from HIPED for SMIM20 Gene

This gene is overexpressed in Stomach (18.8) and Bone (13.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SMIM20 Gene



Protein tissue co-expression partners for SMIM20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SMIM20 Gene:

SMIM20

SOURCE GeneReport for Unigene cluster for SMIM20 Gene:

Hs.479386

Evidence on tissue expression from TISSUES for SMIM20 Gene

  • Muscle(4.3)
genes like me logo Genes that share expression patterns with SMIM20: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM20 Gene

Orthologs for SMIM20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMIM20 33
  • 99.5 (n)
C4ORF52 34
  • 40 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMIM20 33 34 34
  • 92.54 (n)
dog
(Canis familiaris)
Mammalia SMIM20 33 34
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Smim20 33 16 34
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Smim20 33
  • 85.86 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM20 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM20 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF52 33 34
  • 77.11 (n)
lizard
(Anolis carolinensis)
Reptilia SMIM20 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smim20 33
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3911 33
zebrafish
(Danio rerio)
Actinopterygii SMIM20 34
  • 56 (a)
OneToOne
Species where no ortholog for SMIM20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMIM20 Gene

ENSEMBL:
Gene Tree for SMIM20 (if available)
TreeFam:
Gene Tree for SMIM20 (if available)

Paralogs for SMIM20 Gene

No data available for Paralogs for SMIM20 Gene

Variants for SMIM20 Gene

Sequence variations from dbSNP and Humsavar for SMIM20 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000018823 -- 25,927,787(+) T/C intron_variant
rs1000039231 -- 25,916,575(+) T/C intron_variant
rs1000977907 -- 25,929,918(+) C/T downstream_transcript_variant
rs1001640498 -- 25,927,043(+) T/C intron_variant
rs1001869390 -- 25,921,137(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM20 Gene

Variant ID Type Subtype PubMed ID
esv3436006 CNV duplication 20981092
nsv997544 CNV gain 25217958

Variation tolerance for SMIM20 Gene

Gene Damage Index Score: 2.57; 44.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMIM20 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM20 Gene

Disorders for SMIM20 Gene

Additional Disease Information for SMIM20

No disorders were found for SMIM20 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM20 Gene

Publications for SMIM20 Gene

  1. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. (PMID: 26321642) Dennerlein S … Rehling P (Cell reports 2015) 2 3 4 58
  2. Phoenixin: A Newly Discovered Peptide with Multi-Functions. (PMID: 28176660) Yuan T … Niu D (Protein and peptide letters 2017) 2 3 58
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 58
  4. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58

Products for SMIM20 Gene

Sources for SMIM20 Gene

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