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Aliases for MAIP1 Gene

Aliases for MAIP1 Gene

  • Matrix AAA Peptidase Interacting Protein 1 2 3 5
  • C2orf47 3 4
  • M-AAA Protease-Interacting Protein 1, Mitochondrial 3
  • Uncharacterized Protein C2orf47, Mitochondrial 3
  • Matrix AAA Peptidase-Interacting Protein 1 4
  • Chromosome 2 Open Reading Frame 47 2

External Ids for MAIP1 Gene

Previous HGNC Symbols for MAIP1 Gene

  • C2orf47

Summaries for MAIP1 Gene

GeneCards Summary for MAIP1 Gene

MAIP1 (Matrix AAA Peptidase Interacting Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for MAIP1 Gene

  • Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048).

Additional gene information for MAIP1 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 MAIP1 Gene

Genomics for MAIP1 Gene

Regulatory Elements for MAIP1 Gene

Enhancers for MAIP1 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
GH02H199922 0.6 ENCODE 11.9 -32.3 -32285 0 NCOR1 ETV1 MAX MNT FOXP2 ATF7 LOC101927687 MAIP1 TYW5 C2orf69
GH02H199953 1.1 ENCODE 0.7 +0.1 59 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 LOC101927687 CLK1 KCTD18 TYW5 SPATS2L FTCDNL1 MAIP1
GH02H199910 1.1 ENCODE 0.3 -43.7 -43727 2 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 LOC101927687 TYW5 FTCDNL1 C2orf69 MAIP1
GH02H199942 0.4 ENCODE 0.4 -12.8 -12785 0 FOXA2 MAIP1 C2orf69
GH02H199913 0.4 Ensembl 0.3 -41.2 -41217 1 PKNOX1 ZNF341 LOC101927687 C2orf69 MAIP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAIP1 on UCSC Golden Path with GeneCards custom track

Promoters for MAIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000128608 283 2401 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for MAIP1 Gene

Chromosome:
2
Start:
199,955,317 bp from pter
End:
200,008,540 bp from pter
Size:
53,224 bases
Orientation:
Plus strand

Genomic View for MAIP1 Gene

Genes around MAIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAIP1 Gene

Proteins for MAIP1 Gene

  • Protein details for MAIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWC4-MAIP1_HUMAN
    Recommended name:
    m-AAA protease-interacting protein 1, mitochondrial
    Protein Accession:
    Q8WWC4
    Secondary Accessions:
    • Q658V9
    • Q9H671

    Protein attributes for MAIP1 Gene

    Size:
    291 amino acids
    Molecular mass:
    32545 Da
    Quaternary structure:
    • Interacts with AFG3L2 (PubMed:27499296, PubMed:27642048). Interacts with SPG7 (PubMed:27499296). Interacts with SMDT1/EMRE (via the N-terminal transit peptide); interaction is direct and takes place before maturation of SMDT1/EMRE (PubMed:27642048).

neXtProt entry for MAIP1 Gene

Post-translational modifications for MAIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAIP1 Gene

No data available for DME Specific Peptides for MAIP1 Gene

Domains & Families for MAIP1 Gene

Gene Families for MAIP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAIP1 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MAIP1: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MAIP1 Gene

Function for MAIP1 Gene

Molecular function for MAIP1 Gene

UniProtKB/Swiss-Prot Function:
Promotes sorting of SMDT1/EMRE in mitochondria by ensuring its maturation (PubMed:27642048). Interacts with the transit peptide region of SMDT1/EMRE precursor protein in the mitochondrial matrix, leading to protect it against protein degradation by YME1L1, thereby ensuring SMDT1/EMRE maturation by the mitochondrial processing peptidase (PMPCA and PMPCB) (PubMed:27642048).

Phenotypes From GWAS Catalog for MAIP1 Gene

Gene Ontology (GO) - Molecular Function for MAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27642048
GO:0043022 ribosome binding IBA --
genes like me logo Genes that share ontologies with MAIP1: view
genes like me logo Genes that share phenotypes with MAIP1: view

Animal Model Products

CRISPR Products

miRNA for MAIP1 Gene

miRTarBase miRNAs that target MAIP1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAIP1 Gene

Localization for MAIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAIP1 Gene

Mitochondrion matrix.

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 MAIP1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005759 mitochondrial matrix IEA,IDA 27642048
genes like me logo Genes that share ontologies with MAIP1: view

Pathways & Interactions for MAIP1 Gene

SuperPathways for MAIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport TAS --
GO:0007007 inner mitochondrial membrane organization IBA --
GO:0032979 protein insertion into mitochondrial membrane from inner side IBA --
GO:0036444 mitochondrial calcium uptake IMP 27642048
GO:0051204 protein insertion into mitochondrial membrane IMP 27642048
genes like me logo Genes that share ontologies with MAIP1: view

No data available for Pathways by source and SIGNOR curated interactions for MAIP1 Gene

Drugs & Compounds for MAIP1 Gene

No Compound Related Data Available

Transcripts for MAIP1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAIP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MAIP1 Gene

No ASD Table

Relevant External Links for MAIP1 Gene

GeneLoc Exon Structure for
MAIP1
ECgene alternative splicing isoforms for
MAIP1

Expression for MAIP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAIP1 Gene:

MAIP1

Evidence on tissue expression from TISSUES for MAIP1 Gene

  • Kidney(4.3)
  • Intestine(4.2)
  • Stomach(4.2)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAIP1 Gene

Orthologs for MAIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2orf47 34
  • 99 (a)
OneToOne
C2BH2orf47 33
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia C37H2orf47 33
  • 87.36 (n)
-- 34
  • 86 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C2H2orf47 33
  • 86.72 (n)
C2orf47 34
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9430016H08Rik 33 34
  • 81.56 (n)
Maip1 16
rat
(Rattus norvegicus)
Mammalia MGC94335 33
  • 80.87 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf47 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf47 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2ORF47 33
  • 63.55 (n)
C2orf47 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf47 33
  • 58.55 (n)
Str.10159 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32021 33
zebrafish
(Danio rerio)
Actinopterygii zgc:123096 33
  • 62.17 (n)
C9H2orf47 34
  • 50 (a)
OneToOne
Dr.10129 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7637 33
fruit fly
(Drosophila melanogaster)
Insecta CG3776 34
  • 22 (a)
OneToOne
Species where no ortholog for MAIP1 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)
  • 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)
  • 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 MAIP1 Gene

ENSEMBL:
Gene Tree for MAIP1 (if available)
TreeFam:
Gene Tree for MAIP1 (if available)

Paralogs for MAIP1 Gene

No data available for Paralogs for MAIP1 Gene

Variants for MAIP1 Gene

Sequence variations from dbSNP and Humsavar for MAIP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000237398 -- 199,954,769(+) TATCA(A/C/G)GTAAG intron-variant, upstream-variant-2KB
rs1000264305 -- 199,962,165(+) ACAAA(C/G)TACCC intron-variant
rs1000400058 -- 199,953,802(+) AGTTG(C/T)TTGTA intron-variant, upstream-variant-2KB
rs1000437411 -- 199,955,066(+) GGAGT(G/T)AAAAG intron-variant, upstream-variant-2KB
rs1000698183 -- 199,962,579(+) AAAGA(-/CT)CCCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAIP1 Gene

Variant ID Type Subtype PubMed ID
nsv834510 CNV loss 17160897

Variation tolerance for MAIP1 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.19; 23.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAIP1 Gene

Disorders for MAIP1 Gene

Relevant External Links for MAIP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAIP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAIP1

No disorders were found for MAIP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAIP1 Gene

Publications for MAIP1 Gene

  1. The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. (PMID: 27642048) König T … Langer T (Molecular cell 2016) 2 3 4 60
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 60
  3. Open reading frames associated with cancer in the dark matter of the human genome. (PMID: 25048349) Delgado AP … Narayanan R (Cancer genomics & proteomics 2014) 2 3 60
  4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 60
  5. FIH Regulates Cellular Metabolism through Hydroxylation of the Deubiquitinase OTUB1. (PMID: 26752685) Scholz CC … Taylor CT (PLoS biology 2016) 3 60

Products for MAIP1 Gene

Sources for MAIP1 Gene

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