Human Gene FIS1 (uc003uyj.4) Description and Page Index
  Description: Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_016068): The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[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 :: SRR1163655.347142.1, SRR1163655.172599.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465403 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:100,882,893-100,888,371 Size: 5,479 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr7:100,883,087-100,888,285 Size: 5,199 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:100,882,893-100,888,371)mRNA (may differ from genome)Protein (152 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Mitochondrial fission 1 protein; AltName: Full=FIS1 homolog; Short=hFis1; AltName: Full=Tetratricopeptide repeat protein 11; Short=TPR repeat protein 11;
FUNCTION: Promotes the fragmentation of the mitochondrial network and its perinuclear clustering. Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis. Also mediates peroxisomal fission.
SUBUNIT: Interacts with DNM1L/DLP1 through the TPR region. Interacts with MARCH5. Interacts with MID51.
INTERACTION: P51572:BCAP31; NbExp=8; IntAct=EBI-3385283, EBI-77683;
SUBCELLULAR LOCATION: Mitochondrion outer membrane; Single-pass membrane protein. Peroxisome membrane; Single-pass membrane protein.
DOMAIN: The C-terminus is required for mitochondrial or peroxisomal localization, while the N-terminus is necessary for mitochondrial or peroxisomal fission, localization and regulation of the interaction with DNM1L.
PTM: Ubiquitinated by MARCH5.
SIMILARITY: Belongs to the FIS1 family.
SIMILARITY: Contains 1 TPR repeat.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FIS1
CDC HuGE Published Literature: FIS1

-  MalaCards Disease Associations
  MalaCards Gene Search: FIS1
Diseases sorted by gene-association score: spinocerebellar ataxia 12 (2), optic atrophy plus syndrome (2), optic nerve disease (1), cranial nerve disease (1), charcot-marie-tooth disease, axonal, type 2k (1)

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 90.59 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 2497.87 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.2086-0.398 Picture PostScript Text
3' UTR -71.79194-0.370 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
IPR016543 - Tetratricopeptide_rpt_11_Fis1
IPR011990 - TPR-like_helical

Pfam Domains:
PF14852 - Fis1 N-terminal tetratricopeptide repeat
PF14853 - Fis1 C-terminal tetratricopeptide repeat

SCOP Domains:
48452 - TPR-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y3D6
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 BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0000266 mitochondrial fission
GO:0000422 mitophagy
GO:0001836 release of cytochrome c from mitochondria
GO:0006626 protein targeting to mitochondrion
GO:0006915 apoptotic process
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0008053 mitochondrial fusion
GO:0010821 regulation of mitochondrion organization
GO:0014850 response to muscle activity
GO:0016559 peroxisome fission
GO:0031667 response to nutrient levels
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043653 mitochondrial fragmentation involved in apoptotic process
GO:0051260 protein homooligomerization
GO:0051561 positive regulation of mitochondrial calcium ion concentration
GO:0070584 mitochondrion morphogenesis
GO:0071333 cellular response to glucose stimulus
GO:0071396 cellular response to lipid
GO:0090141 positive regulation of mitochondrial fission
GO:0090314 positive regulation of protein targeting to membrane
GO:0097237 cellular response to toxic substance
GO:1901653 cellular response to peptide
GO:1902617 response to fluoride
GO:1904579 cellular response to thapsigargin
GO:1905395 response to flavonoid
GO:1990910 response to hypobaric hypoxia
GO:2001244 positive regulation of intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031307 integral component of mitochondrial outer membrane
GO:0032991 macromolecular complex

-  Descriptions from all associated GenBank mRNAs
  AK310968 - Homo sapiens cDNA, FLJ18010.
BC003540 - Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae), mRNA (cDNA clone MGC:10803 IMAGE:3611166), complete cds.
BC009428 - Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae), mRNA (cDNA clone MGC:15390 IMAGE:3611056), complete cds.
AF151893 - Homo sapiens CGI-135 protein mRNA, complete cds.
AK311665 - Homo sapiens cDNA, FLJ18707.
JD423604 - Sequence 404628 from Patent EP1572962.
JD106573 - Sequence 87597 from Patent EP1572962.
JD152009 - Sequence 133033 from Patent EP1572962.
HQ448311 - Synthetic construct Homo sapiens clone IMAGE:100071727; CCSB004236_03 fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1) gene, encodes complete protein.
KJ893783 - Synthetic construct Homo sapiens clone ccsbBroadEn_03177 FIS1 gene, encodes complete protein.
CU678480 - Synthetic construct Homo sapiens gateway clone IMAGE:100020114 5' read FIS1 mRNA.
JD128809 - Sequence 109833 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CGI-135, FIS1_HUMAN, NM_016068, NP_057152, Q9BTP3, Q9Y3D6, TTC11
UCSC ID: uc003uyj.4
RefSeq Accession: NM_016068
Protein: Q9Y3D6 (aka FIS1_HUMAN)
CCDS: CCDS43626.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_016068.2
exon count: 5CDS single in 3' UTR: no RNA size: 785
ORF size: 459CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1097.00frame shift in genome: no % Coverage: 94.14
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
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.