Format

Send to:

Choose Destination

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

Gene ID: 79568, updated on 13-Feb-2019

Summary

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
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
Expression
Ubiquitous expression in kidney (RPKM 12.0), liver (RPKM 9.3) and 25 other tissues See more
Orthologs

Genomic context

See MAIP1 in Genome Data Viewer
Location:
2q33.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (199955317..199964125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (200820040..200828848)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927687 Neighboring gene RNA, 7SL, cytoplasmic 717, pseudogene Neighboring gene chromosome 2 open reading frame 69 Neighboring gene tRNA-yW synthesizing protein 5 Neighboring gene uncharacterized LOC105373833 Neighboring gene spermatogenesis associated serine rich 2 like Neighboring gene RNY4 pseudogene 34

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog
Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22555, DKFZp666A212

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosome binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner mitochondrial membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
protein insertion into mitochondrial inner membrane from matrix side IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein insertion into mitochondrial membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
m-AAA protease-interacting protein 1, mitochondrial

NCBI Reference Sequences (RefSeq)

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_024520.2NP_078796.2  m-AAA protease-interacting protein 1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_078796.2

    Status: VALIDATED

    Source sequence(s)
    AC097717, AK026208, BQ448209
    Consensus CDS
    CCDS2329.1
    UniProtKB/Swiss-Prot
    Q8WWC4
    UniProtKB/TrEMBL
    A0A024R3U8
    Related
    ENSP00000295079.2, ENST00000295079.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    199955317..199964125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246852.3XP_005246909.1  m-AAA protease-interacting protein 1, mitochondrial isoform X1

RNA

  1. XR_427111.3 RNA Sequence

Support Center