Aliases for MAIP1 Gene

Aliases for MAIP1 Gene

  • Matrix AAA Peptidase Interacting Protein 1 2 3 5
  • M-AAA Protease-Interacting Protein 1, Mitochondrial 3 4
  • C2orf47 3 4
  • 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. Diseases associated with MAIP1 include Spastic Ataxia 5 and Spinocerebellar Ataxia 28.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MAIP1 Gene

Genomics for MAIP1 Gene

GeneHancer (GH) Regulatory Elements for MAIP1 Gene

Promoters and enhancers for MAIP1 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
GH02J199953 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 284 4 ZBTB40 ZNF217 NRF1 TCF12 POLR2G SP1 NCOR1 GTF2E2 PHF8 ZFX TYW5 MAIP1 lnc-FTCDNL1-2 ENSG00000232732 CLK1 FTCDNL1 C2orf69
GH02J199922 Enhancer 0.8 Ensembl ENCODE 11.9 -31.9 -31916 2.4 MYC MXI1 RBM25 NCOR1 MAX USF1 ZNF189 FOXP2 ATF4 ETV1 ENSG00000232732 TYW5 MAIP1 C2orf69
GH02J199931 Enhancer 0.4 Ensembl 12.3 -27.3 -27316 0.4 ZNF316 MAFK CHD7 ZNF362 ENSG00000232732 MAIP1 TYW5 C2orf69
GH02J199932 Enhancer 0.3 Ensembl 11.8 -22.7 -22716 0.4 RBM22 POLR2A MAIP1 TYW5 C2orf69 lnc-FTCDNL1-2
GH02J199869 Enhancer 0.3 Ensembl dbSUPER 11.2 -87.2 -87216 0.2 MAIP1 TYW5 ENSG00000227004 lnc-C2orf69-10 lnc-FTCDNL1-1 ENSG00000232732 LOC101927687
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAIP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAIP1

Genomic Locations for MAIP1 Gene

Genomic Locations for MAIP1 Gene
chr2:199,955,317-200,008,540
(GRCh38/hg38)
Size:
53,224 bases
Orientation:
Plus strand
chr2:200,820,040-200,873,263
(GRCh37/hg19)
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:
genes like me logo Genes that share domains with MAIP1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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
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

miRNA for MAIP1 Gene

miRTarBase miRNAs that target MAIP1

Clone Products

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
plasma membrane 1
peroxisome 1

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 IDA,IEA 27642048
genes like me logo Genes that share ontologies with MAIP1: view

Pathways & Interactions for MAIP1 Gene

PathCards logo

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 transmembrane transport TAS --
GO:0007007 inner mitochondrial membrane organization IBA 21873635
GO:0032979 protein insertion into mitochondrial inner membrane from matrix side IBA 21873635
GO:0036444 calcium import into the mitochondrion 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

mRNA/cDNA for MAIP1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for MAIP1 Gene

GeneLoc Exon Structure for
MAIP1

Expression for MAIP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAIP1

Evidence on tissue expression from TISSUES for MAIP1 Gene

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

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 31
  • 99 (a)
OneToOne
C2BH2orf47 30
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia C37H2orf47 30
  • 87.36 (n)
-- 31
  • 86 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
cow
(Bos Taurus)
Mammalia C2H2orf47 30
  • 86.72 (n)
C2orf47 31
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 9430016H08Rik 31 30
  • 81.56 (n)
OneToOne
Maip1 17
rat
(Rattus norvegicus)
Mammalia MGC94335 30
  • 80.87 (n)
oppossum
(Monodelphis domestica)
Mammalia C2orf47 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C2orf47 31
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2ORF47 30
  • 63.55 (n)
C2orf47 31
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 55 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c2orf47 30
  • 58.55 (n)
Str.10159 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.32021 30
zebrafish
(Danio rerio)
Actinopterygii zgc:123096 30
  • 62.17 (n)
C9H2orf47 31
  • 50 (a)
OneToOne
Dr.10129 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7637 30
fruit fly
(Drosophila melanogaster)
Insecta CG3776 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAIP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs2118548 - p.Leu290Ile

Additional dbSNP identifiers (rs#s) for MAIP1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for MAIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic ataxia 5
spinocerebellar ataxia 28
  • sca28
- elite association - COSMIC cancer census association via MalaCards
Search MAIP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MAIP1

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

No data available for 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 54
  2. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 4 54
  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 54
  4. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  5. The Catalytically Inactive Mutation of the Ubiquitin-Conjugating Enzyme CDC34 Affects its Stability and Cell Proliferation. (PMID: 29564676) Liu X … Xu G (The protein journal 2018) 3 54

Products for MAIP1 Gene

Sources for MAIP1 Gene