Human Gene MAIP1 (ENST00000295079.6_3) from GENCODE V47lift37
  Description: matrix AAA peptidase interacting protein 1, transcript variant 1 (from RefSeq NM_024520.3)
Gencode Transcript: ENST00000295079.6_3
Gencode Gene: ENSG00000162972.11_11
Transcript (Including UTRs)
   Position: hg19 chr2:200,820,040-200,828,831 Size: 8,792 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr2:200,820,522-200,828,534 Size: 8,013 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:200,820,040-200,828,831)mRNA (may differ from genome)Protein (291 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsMGIOMIM
PubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CB047_HUMAN
DESCRIPTION: RecName: Full=Uncharacterized protein C2orf47, mitochondrial; Flags: Precursor;
SUBCELLULAR LOCATION: Mitochondrion (Potential).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.67 RPKM in Liver
Total median expression: 397.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -128.70322-0.400 Picture PostScript Text
3' UTR -54.10297-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  SCOP Domains:
54427 - NTF2-like

ModBase Predicted Comparative 3D Structure on Q8WWC4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0043022 ribosome binding

Biological Process:
GO:0006851 mitochondrial calcium ion transport
GO:0007007 inner mitochondrial membrane organization
GO:0032979 protein insertion into mitochondrial membrane from inner side
GO:0036444 mitochondrial calcium uptake
GO:0051204 protein insertion into mitochondrial membrane
GO:0051560 mitochondrial calcium ion homeostasis

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  AK303210 - Homo sapiens cDNA FLJ58443 complete cds.
AK026208 - Homo sapiens cDNA: FLJ22555 fis, clone HSI01193.
JD256669 - Sequence 237693 from Patent EP1572962.
JD135050 - Sequence 116074 from Patent EP1572962.
JD185045 - Sequence 166069 from Patent EP1572962.
BC017959 - Homo sapiens chromosome 2 open reading frame 47, mRNA (cDNA clone MGC:24081 IMAGE:4607945), complete cds.
CU676122 - Synthetic construct Homo sapiens gateway clone IMAGE:100022234 5' read C2orf47 mRNA.
HQ447647 - Synthetic construct Homo sapiens clone IMAGE:100070993; CCSB012939_01 chromosome 2 open reading frame 47 (C2orf47) gene, encodes complete protein.
KJ894683 - Synthetic construct Homo sapiens clone ccsbBroadEn_04077 C2orf47 gene, encodes complete protein.
AL832964 - Homo sapiens mRNA; cDNA DKFZp666A212 (from clone DKFZp666A212).
JD490561 - Sequence 471585 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8WWC4 (Reactome details) participates in the following event(s):

R-HSA-8949661 C2orf47:AFG3L2 binds the transit peptide of SMDT1
R-HSA-8949649 PMPCA:PMPCB cleaves the transit peptide of proSMDT1 (proEMRE)
R-HSA-8949664 Processing of SMDT1
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: C2orf47, ENST00000295079.1, ENST00000295079.2, ENST00000295079.3, ENST00000295079.4, ENST00000295079.5, MAIP1 , MAIP1_HUMAN, NM_024520, Q658V9, Q8WWC4, Q9H671, uc317ljo.1, uc317ljo.2
UCSC ID: ENST00000295079.6_3
RefSeq Accession: NM_024520.3
Protein: Q8WWC4 (aka CB047_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.