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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.

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

Regulatory Elements for SMIM20 Gene

Enhancers for SMIM20 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
GH04G025912 1.1 ENCODE 35.1 +52.4 52449 3.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SMIM20 SEL1L3 ANAPC4 PI4K2B SEPSECS LOC105374538 PIR49686
GH04G025908 1 Ensembl ENCODE 26 +46.8 46769 1.0 SOX13 TFAP4 FOXA2 SAP130 JUN ARID4B ZNF140 ZNF644 FOSL1 POLR2A SMIM20 SEL1L3 LOC105374538 GC04M025896
GH04G025919 0.9 ENCODE 28.7 +58.0 57998 1.2 HDGF PKNOX1 FOXA2 ARID4B FOS PPARG ZNF592 SMARCA4 PBX2 NR2C1 SMIM20 SEL1L3 PIR49686 LOC105374538
GH04G025879 0.8 dbSUPER 11.4 +17.8 17831 1.0 BCOR PKNOX1 ZMYM3 CEBPG ZFHX2 ARID3A POLR2A ZNF207 IKZF2 CREM SEL1L3 SMIM20 ENSG00000251009 GC04M025896
GH04G025834 0.7 ENCODE dbSUPER 12.1 -26.9 -26894 1.0 GATA2 ADNP TBX21 SEL1L3 SMIM20 LOC102723733 ENSG00000250541
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMIM20 on UCSC Golden Path with GeneCards custom track

Promoters for SMIM20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000166934 -92 1401 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for SMIM20 Gene

Chromosome:
4
Start:
25,861,830 bp from pter
End:
25,929,879 bp from pter
Size:
68,050 bases
Orientation:
Plus strand

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-SMI20_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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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 Gene Families , 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.

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

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

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

Transcripts for SMIM20 Gene

Unigene Clusters for SMIM20 Gene

Small integral membrane protein 20:
Representative Sequences:

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 34
  • 99.5 (n)
C4ORF52 35
  • 40 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMIM20 34 35 35
  • 92.54 (n)
dog
(Canis familiaris)
Mammalia SMIM20 34 35
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Smim20 34 16 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Smim20 34
  • 85.86 (n)
oppossum
(Monodelphis domestica)
Mammalia SMIM20 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM20 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C4H4ORF52 34 35
  • 77.11 (n)
lizard
(Anolis carolinensis)
Reptilia SMIM20 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smim20 34
  • 65.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3911 34
zebrafish
(Danio rerio)
Actinopterygii SMIM20 35
  • 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 Sequence Context AA Info Type
rs1000018823 -- 25,927,787(+) TGCAA(C/T)CAATT intron-variant
rs1000039231 -- 25,916,575(+) TTTTC(C/T)GAGAC intron-variant
rs1000977907 -- 25,929,918(+) GTGTG(C/T)GATTC downstream-variant-500B
rs1001640498 -- 25,927,043(+) CACTT(C/T)AGAGG intron-variant
rs1001869390 -- 25,921,137(+) GGGGA(C/T)AGGAA 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)

Relevant External Links 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

Relevant External Links for SMIM20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Phoenixin: a newly discovered peptide with multi-functions. (PMID: 28176660) Yuan T. … Niu D. (Protein Pept. Lett. 2017) 2 3 64
  2. MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly. (PMID: 26321642) Dennerlein S. … Rehling P. (Cell Rep 2015) 3 4 64
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3 64
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for SMIM20 Gene

Sources for SMIM20 Gene

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