Human Gene IMMT (ENST00000410111.8_9) from GENCODE V47lift37
  Description: inner membrane mitochondrial protein, transcript variant 58 (from RefSeq NR_174398.1)
Gencode Transcript: ENST00000410111.8_9
Gencode Gene: ENSG00000132305.22_12
Transcript (Including UTRs)
   Position: hg19 chr2:86,371,059-86,422,585 Size: 51,527 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr2:86,371,391-86,422,505 Size: 51,115 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:86,371,059-86,422,585)mRNA (may differ from genome)Protein (758 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: IMMT_HUMAN
DESCRIPTION: RecName: Full=Mitochondrial inner membrane protein; AltName: Full=Cell proliferation-inducing gene 4/52 protein; AltName: Full=Mitofilin; AltName: Full=p87/89;
SUBUNIT: Interacts with OPA1, preferentially with the soluble OPA1 form. Component of the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3 and associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2. Interacts with CHCHD6; the interaction is direct.
INTERACTION: O60341:KDM1A; NbExp=2; IntAct=EBI-473801, EBI-710124;
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
SEQUENCE CAUTION: Sequence=CAH18389.1; Type=Erroneous termination; Positions=759; Note=Translated as stop;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: IMMT
Diseases sorted by gene-association score: gracile syndrome (13), melanoma-associated retinopathy (12), paraneoplastic syndromes (8), ornithosis (7), dyskinetic cerebral palsy (4), leigh syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 60.82 RPKM in Heart - Left Ventricle
Total median expression: 1236.50 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 -19.3080-0.241 Picture PostScript Text
3' UTR -78.30332-0.236 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
  InterPro Domains: Graphical view of domain structure
IPR019133 - Mt-IM_prot_Mitofilin

Pfam Domains:
PF09731 - Mitochondrial inner membrane protein

SCOP Domains:
47699 - Bifunctional inhibitor/lipid-transfer protein/seed storage 2S albumin

ModBase Predicted Comparative 3D Structure on Q16891
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:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0042407 cristae formation
GO:0051560 mitochondrial calcium ion homeostasis

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043209 myelin sheath
GO:0061617 MICOS complex


-  Descriptions from all associated GenBank mRNAs
  AF148646 - Homo sapiens mitofilin mRNA, partial cds.
BX537369 - Homo sapiens mRNA; cDNA DKFZp686A18156 (from clone DKFZp686A18156).
LF384121 - JP 2014500723-A/191624: Polycomb-Associated Non-Coding RNAs.
BC027458 - Homo sapiens, clone IMAGE:5113784, mRNA, partial cds.
CR749590 - Homo sapiens mRNA; cDNA DKFZp779P1653 (from clone DKFZp779P1653).
AY232292 - Homo sapiens proliferation-inducing gene 4 mRNA, complete cds.
BC002412 - Homo sapiens inner membrane protein, mitochondrial (mitofilin), mRNA (cDNA clone MGC:8695 IMAGE:2964676), complete cds.
AK299596 - Homo sapiens cDNA FLJ54290 complete cds, highly similar to Mitochondrial inner membrane protein.
D21092 - Homo sapiens HMP mRNA for motor protein, partial cds.
AK299014 - Homo sapiens cDNA FLJ59388 complete cds, highly similar to Mitochondrial inner membrane protein.
D21094 - Homo sapiens HMP mRNA for motor protein, complete cds.
L42572 - Homo sapiens transmembrane protein (p87/89) mRNA, complete cds.
BC107419 - Homo sapiens inner membrane protein, mitochondrial (mitofilin), mRNA (cDNA clone IMAGE:4337653), complete cds.
AY921637 - Homo sapiens cell proliferation-inducing protein 52 mRNA, complete cds.
AK225780 - Homo sapiens mRNA for Splice isoform 2 of Q16891 variant, clone: FCC132C09.
AK300017 - Homo sapiens cDNA FLJ59418 complete cds, highly similar to Mitochondrial inner membrane protein.
AK296676 - Homo sapiens cDNA FLJ51884 complete cds, highly similar to Mitochondrial inner membrane protein.
KJ898325 - Synthetic construct Homo sapiens clone ccsbBroadEn_07719 IMMT gene, encodes complete protein.
EU831472 - Synthetic construct Homo sapiens clone HAIB:100066501; DKFZo008G0217 inner membrane protein, mitochondrial (mitofilin) protein (IMMT) gene, encodes complete protein; nuclear gene for mitochondrial product.
AK312251 - Homo sapiens cDNA, FLJ92546, highly similar to Homo sapiens inner membrane protein, mitochondrial (mitofilin) (IMMT), mRNA.
EU831559 - Synthetic construct Homo sapiens clone HAIB:100066588; DKFZo004G0218 inner membrane protein, mitochondrial (mitofilin) protein (IMMT) gene, encodes complete protein; nuclear gene for mitochondrial product.
AB527791 - Synthetic construct DNA, clone: pF1KB5766, Homo sapiens IMMT gene for inner membrane protein, mitochondrial, without stop codon, in Flexi system.
CR456793 - Homo sapiens full open reading frame cDNA clone RZPDo834B1021D for gene IMMT, inner membrane protein, mitochondrial (mitofilin); complete cds, incl. stopcodon.
D21093 - Homo sapiens HMP mRNA for motor protein, partial cds.
MA619698 - JP 2018138019-A/191624: Polycomb-Associated Non-Coding RNAs.
JD285223 - Sequence 266247 from Patent EP1572962.
LF362938 - JP 2014500723-A/170441: Polycomb-Associated Non-Coding RNAs.
LF362937 - JP 2014500723-A/170440: Polycomb-Associated Non-Coding RNAs.
LF362936 - JP 2014500723-A/170439: Polycomb-Associated Non-Coding RNAs.
LF362935 - JP 2014500723-A/170438: Polycomb-Associated Non-Coding RNAs.
JD024661 - Sequence 5685 from Patent EP1572962.
JD030089 - Sequence 11113 from Patent EP1572962.
LF362934 - JP 2014500723-A/170437: Polycomb-Associated Non-Coding RNAs.
MA598515 - JP 2018138019-A/170441: Polycomb-Associated Non-Coding RNAs.
MA598514 - JP 2018138019-A/170440: Polycomb-Associated Non-Coding RNAs.
MA598513 - JP 2018138019-A/170439: Polycomb-Associated Non-Coding RNAs.
MA598512 - JP 2018138019-A/170438: Polycomb-Associated Non-Coding RNAs.
MA598511 - JP 2018138019-A/170437: Polycomb-Associated Non-Coding RNAs.
LF362929 - JP 2014500723-A/170432: Polycomb-Associated Non-Coding RNAs.
LF362928 - JP 2014500723-A/170431: Polycomb-Associated Non-Coding RNAs.
AK304197 - Homo sapiens cDNA FLJ53959 complete cds, highly similar to Mitochondrial inner membrane protein.
AK309004 - Homo sapiens cDNA, FLJ99045.
LF362927 - JP 2014500723-A/170430: Polycomb-Associated Non-Coding RNAs.
LF362926 - JP 2014500723-A/170429: Polycomb-Associated Non-Coding RNAs.
BC005983 - Homo sapiens inner membrane protein, mitochondrial (mitofilin), mRNA (cDNA clone IMAGE:4132331), partial cds.
LF362925 - JP 2014500723-A/170428: Polycomb-Associated Non-Coding RNAs.
LF362922 - JP 2014500723-A/170425: Polycomb-Associated Non-Coding RNAs.
LF362921 - JP 2014500723-A/170424: Polycomb-Associated Non-Coding RNAs.
CU677950 - Synthetic construct Homo sapiens gateway clone IMAGE:100020062 5' read IMMT mRNA.
LF362920 - JP 2014500723-A/170423: Polycomb-Associated Non-Coding RNAs.
LF362918 - JP 2014500723-A/170421: Polycomb-Associated Non-Coding RNAs.
LF362916 - JP 2014500723-A/170419: Polycomb-Associated Non-Coding RNAs.
D21091 - Homo sapiens HMP mRNA for motor protein, EcoRI-ClaI fragment in the 5'-terminal region.
LF362913 - JP 2014500723-A/170416: Polycomb-Associated Non-Coding RNAs.
DQ589677 - Homo sapiens piRNA piR-56789, complete sequence.
LF362910 - JP 2014500723-A/170413: Polycomb-Associated Non-Coding RNAs.
LF207188 - JP 2014500723-A/14691: Polycomb-Associated Non-Coding RNAs.
LF362906 - JP 2014500723-A/170409: Polycomb-Associated Non-Coding RNAs.
JD129067 - Sequence 110091 from Patent EP1572962.
JD516684 - Sequence 497708 from Patent EP1572962.
JD483037 - Sequence 464061 from Patent EP1572962.
MA598506 - JP 2018138019-A/170432: Polycomb-Associated Non-Coding RNAs.
MA598505 - JP 2018138019-A/170431: Polycomb-Associated Non-Coding RNAs.
MA598504 - JP 2018138019-A/170430: Polycomb-Associated Non-Coding RNAs.
MA598503 - JP 2018138019-A/170429: Polycomb-Associated Non-Coding RNAs.
MA598502 - JP 2018138019-A/170428: Polycomb-Associated Non-Coding RNAs.
MA598499 - JP 2018138019-A/170425: Polycomb-Associated Non-Coding RNAs.
MA598498 - JP 2018138019-A/170424: Polycomb-Associated Non-Coding RNAs.
MA598497 - JP 2018138019-A/170423: Polycomb-Associated Non-Coding RNAs.
MA598495 - JP 2018138019-A/170421: Polycomb-Associated Non-Coding RNAs.
MA598493 - JP 2018138019-A/170419: Polycomb-Associated Non-Coding RNAs.
MA598490 - JP 2018138019-A/170416: Polycomb-Associated Non-Coding RNAs.
MA598487 - JP 2018138019-A/170413: Polycomb-Associated Non-Coding RNAs.
MA598483 - JP 2018138019-A/170409: Polycomb-Associated Non-Coding RNAs.
MA442765 - JP 2018138019-A/14691: Polycomb-Associated Non-Coding RNAs.

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

Protein Q16891 (Reactome details) participates in the following event(s):

R-HSA-8949613 Cristae formation
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: B1H0U5, B2R5N6, ENST00000410111.1, ENST00000410111.2, ENST00000410111.3, ENST00000410111.4, ENST00000410111.5, ENST00000410111.6, ENST00000410111.7, HMP, MIC60, MIC60_HUMAN, MINOS2, NR_174398, PIG4, PIG52, Q14539, Q15092, Q16891, Q68D41, Q69HW5, Q6IBL0, Q7Z3X1, Q8TAJ5, Q9P0V2, uc319gpi.1, uc319gpi.2
UCSC ID: ENST00000410111.8_9
RefSeq Accession: NM_006839.3
Protein: Q16891 (aka IMMT_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.