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MAIP1 matrix AAA peptidase interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 79568, updated on 9-Jun-2025
Official Symbol
MAIP1provided by HGNC
Official Full Name
matrix AAA peptidase interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:26198
See related
Ensembl:ENSG00000162972 MIM:617267; AllianceGenome:HGNC:26198
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C2orf47
Summary
Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Jun 2025]
Expression
Ubiquitous expression in kidney (RPKM 12.0), liver (RPKM 9.3) and 25 other tissues See more
Orthologs
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See MAIP1 in Genome Data Viewer
Location:
2q33.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (199955317..199964117)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (200438942..200447744)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (200820040..200828840)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16950 Neighboring gene RNA, 7SL, cytoplasmic 717, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:200786527-200787028 Neighboring gene chromosome 2 open reading frame 69 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:200819858-200821057 Neighboring gene tRNA-yW synthesizing protein 5 Neighboring gene uncharacterized LOC124906112 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:200844585-200845115 Neighboring gene uncharacterized LOC124907962 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:200874708-200874865 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:200919369-200920289 Neighboring gene uncharacterized LOC105373833

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ22555, DKFZp666A212

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ribosome binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
m-AAA protease-interacting protein 1, mitochondrial

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001369399.1NP_001356328.1  m-AAA protease-interacting protein 1, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK026208, BE825319, BI772283
    UniProtKB/TrEMBL
    H7C0V0
  2. NM_001394955.1NP_001381884.1  m-AAA protease-interacting protein 1, mitochondrial isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC097717
    Consensus CDS
    CCDS2329.1
    UniProtKB/Swiss-Prot
    Q658V9, Q8WWC4, Q9H671
    Related
    ENSP00000376111.1, ENST00000392290.6
  3. NM_024520.3NP_078796.2  m-AAA protease-interacting protein 1, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_078796.2

    Status: VALIDATED

    Source sequence(s)
    AK026208, BC017959, BI772283
    Consensus CDS
    CCDS2329.1
    UniProtKB/Swiss-Prot
    Q658V9, Q8WWC4, Q9H671
    Related
    ENSP00000295079.2, ENST00000295079.6

RNA

  1. NR_161377.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC097717, AK026208, BC017959, BI772283

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    199955317..199964117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    200438942..200447744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)