Human Gene MTFR1L (uc001bkq.4)
  Description: Homo sapiens mitochondrial fission regulator 1-like (MTFR1L), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:26,146,397-26,159,433 Size: 13,037 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:26,149,596-26,158,517 Size: 8,922 Coding Exon Count: 6 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:26,146,397-26,159,433)mRNA (may differ from genome)Protein (292 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FA54B_HUMAN
DESCRIPTION: RecName: Full=Protein FAM54B;
SIMILARITY: Belongs to the MTFR1/FAM54 family.
SEQUENCE CAUTION: Sequence=AAQ13638.1; Type=Frameshift; Positions=7, 49;

-  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


-  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: 88.12 RPKM in Adrenal Gland
Total median expression: 1752.21 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 -101.14210-0.482 Picture PostScript Text
3' UTR -306.60916-0.335 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
IPR007972 - Mtfr1

Pfam Domains:
PF05308 - Mitochondrial fission regulator

ModBase Predicted Comparative 3D Structure on Q9H019
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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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

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

Biological Process:
GO:0000266 mitochondrial fission
GO:0009060 aerobic respiration

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BX647921 - Homo sapiens mRNA; cDNA DKFZp686M0519 (from clone DKFZp686M0519).
AK314297 - Homo sapiens cDNA, FLJ95054.
AB075880 - Homo sapiens mRNA for putative protein product of HYST1888, complete cds.
AK299221 - Homo sapiens cDNA FLJ55391 complete cds.
AF173891 - Homo sapiens MSTP116 (MST116) mRNA, complete cds.
AL512766 - Homo sapiens mRNA; cDNA DKFZp564M0163 (from clone DKFZp564M0163).
BC017175 - Homo sapiens family with sequence similarity 54, member B, mRNA (cDNA clone MGC:1164 IMAGE:3162883), complete cds.
AY007100 - Homo sapiens clone TCCCIA00201 mRNA sequence.
AK056721 - Homo sapiens cDNA FLJ32159 fis, clone PLACE6000263.
JD044526 - Sequence 25550 from Patent EP1572962.
AK290744 - Homo sapiens cDNA FLJ77646 complete cds.
JD314258 - Sequence 295282 from Patent EP1572962.
AB528297 - Synthetic construct DNA, clone: pF1KE0158, Homo sapiens FAM54B gene for family with sequence similarity 54, member B, without stop codon, in Flexi system.
KJ894317 - Synthetic construct Homo sapiens clone ccsbBroadEn_03711 FAM54B gene, encodes complete protein.
KU178723 - Homo sapiens family with sequence similarity 54 member B isoform 1 (FAM54B) mRNA, partial cds.
KU178724 - Homo sapiens family with sequence similarity 54 member B isoform 2 (FAM54B) mRNA, complete cds, alternatively spliced.
AM393476 - Synthetic construct Homo sapiens clone IMAGE:100002006 for hypothetical protein (FAM54B gene).
AK127164 - Homo sapiens cDNA FLJ45228 fis, clone BRCAN2020880.
AK302324 - Homo sapiens cDNA FLJ52801 complete cds, highly similar to Nucleolar protein 4.
JD155435 - Sequence 136459 from Patent EP1572962.
JD515788 - Sequence 496812 from Patent EP1572962.
JD402421 - Sequence 383445 from Patent EP1572962.
JD521251 - Sequence 502275 from Patent EP1572962.
JD237263 - Sequence 218287 from Patent EP1572962.
JD341113 - Sequence 322137 from Patent EP1572962.
JD436356 - Sequence 417380 from Patent EP1572962.
JD166034 - Sequence 147058 from Patent EP1572962.
JD062938 - Sequence 43962 from Patent EP1572962.
DQ595805 - Homo sapiens piRNA piR-61917, complete sequence.
DQ601349 - Homo sapiens piRNA piR-39415, complete sequence.
JD521698 - Sequence 502722 from Patent EP1572962.
JD403049 - Sequence 384073 from Patent EP1572962.
JD551148 - Sequence 532172 from Patent EP1572962.
JD492848 - Sequence 473872 from Patent EP1572962.
JD114467 - Sequence 95491 from Patent EP1572962.
JD270400 - Sequence 251424 from Patent EP1572962.
JD387170 - Sequence 368194 from Patent EP1572962.
JD446455 - Sequence 427479 from Patent EP1572962.
JD169005 - Sequence 150029 from Patent EP1572962.
JD383272 - Sequence 364296 from Patent EP1572962.
JD052892 - Sequence 33916 from Patent EP1572962.
JD563793 - Sequence 544817 from Patent EP1572962.
JD352206 - Sequence 333230 from Patent EP1572962.
JD500129 - Sequence 481153 from Patent EP1572962.
JD237087 - Sequence 218111 from Patent EP1572962.
JD192134 - Sequence 173158 from Patent EP1572962.
JD225483 - Sequence 206507 from Patent EP1572962.
JD073421 - Sequence 54445 from Patent EP1572962.
JD434727 - Sequence 415751 from Patent EP1572962.
JD485257 - Sequence 466281 from Patent EP1572962.
JD554206 - Sequence 535230 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NCB4, B7WNV5, D3DPJ4, FA54B_HUMAN, FAM54B, HYST1888, MSTP116, NM_001099625, NP_062457, Q63HP1, Q7Z2S7, Q9H019, Q9NUI7
UCSC ID: uc001bkq.4
RefSeq Accession: NM_001099625
Protein: Q9H019 (aka FA54B_HUMAN)
CCDS: CCDS41284.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001099625.1
exon count: 7CDS single in 3' UTR: no RNA size: 2022
ORF size: 879CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1846.00frame shift in genome: no % Coverage: 99.16
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.