Human Gene MARCH5 (uc001khx.1) Description and Page Index
  Description: Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA.
RefSeq Summary (NM_017824): MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.250655.1, SRR1803617.146891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000358935.3/ ENSP00000351813.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr10:94,050,920-94,113,721 Size: 62,802 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr10:94,051,252-94,110,964 Size: 59,713 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:94,050,920-94,113,721)mRNA (may differ from genome)Protein (278 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
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neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: MARH5_HUMAN
DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase MARCH5; EC=6.3.2.-; AltName: Full=Membrane-associated RING finger protein 5; AltName: Full=Membrane-associated RING-CH protein V; Short=MARCH-V; AltName: Full=Mitochondrial ubiquitin ligase; Short=MITOL; AltName: Full=RING finger protein 153;
FUNCTION: Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Monomer and homodimer. Interacts with MFN1, MFN2, DNM1L and FIS1.
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane. Note=Authors show that the protein can be detected in endoplasmic reticulum (PubMed:14722266). Authors (PubMed:16874301) show its presence only in mitochondria (PubMed:16874301).
TISSUE SPECIFICITY: Expressed in brain, heart, liver, lung, spleen, stomach, testis, skeletal and muscle.
DOMAIN: The RING-CH-type zinc finger domain is required for E3 ligase activity (By similarity).
PTM: Autoubiquitinated leading to degradation (short half-life).
MISCELLANEOUS: By binding to and ubiquitinating two ALS1 variants of SOD1 (mSOD1 variants Arg-86 and Ala-94) it attenuates their cytotoxicity.
SIMILARITY: Contains 1 RING-CH-type zinc finger.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MARCH5
CDC HuGE Published Literature: MARCH5
Positive Disease Associations: Bipolar Disorder , Body Mass Index
Related Studies:
  1. Bipolar Disorder
    , , . [PubMed 0]
  2. Bipolar Disorder
    , , . [PubMed 0]
  3. Bipolar Disorder
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 13.22 RPKM in Esophagus - Mucosa
Total median expression: 406.59 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 -158.20332-0.477 Picture PostScript Text
3' UTR -670.932757-0.243 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
IPR011016 - Znf_RING-CH
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF12906 - RING-variant domain

SCOP Domains:
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q9NX47
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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0046872 metal ion binding
GO:0051020 GTPase binding

Biological Process:
GO:0000209 protein polyubiquitination
GO:0016567 protein ubiquitination
GO:0051865 protein autoubiquitination
GO:0070585 protein localization to mitochondrion
GO:0090140 regulation of mitochondrial fission
GO:0090141 positive regulation of mitochondrial fission
GO:0090344 negative regulation of cell aging

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  LF211309 - JP 2014500723-A/18812: Polycomb-Associated Non-Coding RNAs.
AK309175 - Homo sapiens cDNA, FLJ99216.
AK000452 - Homo sapiens cDNA FLJ20445 fis, clone KAT05170.
AK294799 - Homo sapiens cDNA FLJ54286 complete cds, highly similar to Mus musculus membrane-associated ring finger (C3HC4) 5 (March5), mRNA.
BC015480 - Homo sapiens membrane-associated ring finger (C3HC4) 5, mRNA (cDNA clone MGC:8860 IMAGE:3905766), complete cds.
AB191202 - Homo sapiens MARCH5 mRNA for membrane-associated RING-CH 5, complete cds.
AB529108 - Synthetic construct DNA, clone: pF1KB4651, Homo sapiens MARCH5 gene for membrane-associated ring finger (C3HC4) protein 5, without stop codon, in Flexi system.
JF432871 - Synthetic construct Homo sapiens clone IMAGE:100074194 membrane-associated ring finger (C3HC4) 5 (MARCH5) gene, encodes complete protein.
KJ894054 - Synthetic construct Homo sapiens clone ccsbBroadEn_03448 MARCH5 gene, encodes complete protein.
MA446886 - JP 2018138019-A/18812: Polycomb-Associated Non-Coding RNAs.
LF345473 - JP 2014500723-A/152976: Polycomb-Associated Non-Coding RNAs.
JD458666 - Sequence 439690 from Patent EP1572962.
LF345480 - JP 2014500723-A/152983: Polycomb-Associated Non-Coding RNAs.
MA581050 - JP 2018138019-A/152976: Polycomb-Associated Non-Coding RNAs.
MA581057 - JP 2018138019-A/152983: Polycomb-Associated Non-Coding RNAs.
JD490482 - Sequence 471506 from Patent EP1572962.
JD298920 - Sequence 279944 from Patent EP1572962.
LF345482 - JP 2014500723-A/152985: Polycomb-Associated Non-Coding RNAs.
JD102403 - Sequence 83427 from Patent EP1572962.
JD243768 - Sequence 224792 from Patent EP1572962.
JD240677 - Sequence 221701 from Patent EP1572962.
LF345483 - JP 2014500723-A/152986: Polycomb-Associated Non-Coding RNAs.
LF345484 - JP 2014500723-A/152987: Polycomb-Associated Non-Coding RNAs.
JD298178 - Sequence 279202 from Patent EP1572962.
JD299427 - Sequence 280451 from Patent EP1572962.
JD350399 - Sequence 331423 from Patent EP1572962.
JD243706 - Sequence 224730 from Patent EP1572962.
JD361585 - Sequence 342609 from Patent EP1572962.
JD557907 - Sequence 538931 from Patent EP1572962.
JD303743 - Sequence 284767 from Patent EP1572962.
JD362325 - Sequence 343349 from Patent EP1572962.
JD456363 - Sequence 437387 from Patent EP1572962.
JD393860 - Sequence 374884 from Patent EP1572962.
JD059452 - Sequence 40476 from Patent EP1572962.
JD565427 - Sequence 546451 from Patent EP1572962.
JD066899 - Sequence 47923 from Patent EP1572962.
JD562261 - Sequence 543285 from Patent EP1572962.
JD151642 - Sequence 132666 from Patent EP1572962.
JD440223 - Sequence 421247 from Patent EP1572962.
JD375509 - Sequence 356533 from Patent EP1572962.
JD387945 - Sequence 368969 from Patent EP1572962.
JD469233 - Sequence 450257 from Patent EP1572962.
JD410301 - Sequence 391325 from Patent EP1572962.
JD418118 - Sequence 399142 from Patent EP1572962.
JD553019 - Sequence 534043 from Patent EP1572962.
JD420849 - Sequence 401873 from Patent EP1572962.
JD490552 - Sequence 471576 from Patent EP1572962.
MA581059 - JP 2018138019-A/152985: Polycomb-Associated Non-Coding RNAs.
MA581060 - JP 2018138019-A/152986: Polycomb-Associated Non-Coding RNAs.
MA581061 - JP 2018138019-A/152987: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: MARH5_HUMAN, NM_017824, NP_060294, Q9NX47, RNF153
UCSC ID: uc001khx.1
RefSeq Accession: NM_017824
Protein: Q9NX47 (aka MARH5_HUMAN)
CCDS: CCDS7420.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017824.4
exon count: 6CDS single in 3' UTR: no RNA size: 3941
ORF size: 837CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1596.00frame shift in genome: no % Coverage: 99.62
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.