Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79568
Gene name Gene Name - the full gene name approved by the HGNC.
Matrix AAA peptidase interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAIP1
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf47
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.1
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27642048, 32296183
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005759 Component Mitochondrial matrix IDA 27642048
GO:0006851 Process Mitochondrial calcium ion transmembrane transport TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617267 26198 ENSG00000162972
Protein
UniProt ID Q8WWC4
Protein name m-AAA protease-interacting protein 1, mitochondrial (Matrix AAA peptidase-interacting protein 1)
Protein 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
Family and domains
Sequence
MALAARLLPQFLHSRSLPCGAVRLRTPAVAEVRLPSATLCYFCRCRLGLGAALFPRSARA
LAASALPAQGSRWPVLSSPGLPAAFASFPACPQRSYSTEEKPQQHQKTKMIVLGFSNPIN
WVRTRIKAFLIWAYFDKEFSITEFSEGAKQAFAHVSKLLSQCKFDLLEELVAKEVLHALK
EKVTSLPDNHKNALAANIDEIVFTSTGDISIYYDEKGRKFVNILMCFWYLTSANIPSETL
RGASVFQVKLGNQNVETKQLLSASYEFQREFTQGVKPDWTIARIEHSKLLE
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Processing of SMDT1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
28540026, 26198764
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Atrial Fibrillation Atrial Fibrillation GWAS
Associations from Text Mining
Disease Name Relationship Type References
Esophageal Neoplasms Associate 35747687
Neoplasms Stimulate 35747687