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Protein

Mitochondrial fission regulator 2

Gene

MTFR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in mitochondrial aerobic respiration essentially in the testis. Can also promote mitochondrial fission (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial fission regulator 2
Alternative name(s):
DUF729 domain-containing protein 1
Gene namesi
Name:MTFR2
Synonyms:DUFD1, FAM54A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21115. MTFR2.

Subcellular locationi

  • Mitochondrion By similarity

  • Note: Associated with membranes.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134871105.

Polymorphism and mutation databases

BioMutaiMTFR2.
DMDMi56404526.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 385384Mitochondrial fission regulator 2PRO_0000087164Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineCombined sources
Modified residuei119 – 1191PhosphoserineCombined sources
Modified residuei291 – 2911PhosphoserineCombined sources
Modified residuei328 – 3281PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6P444.
MaxQBiQ6P444.
PaxDbiQ6P444.
PeptideAtlasiQ6P444.
PRIDEiQ6P444.

PTM databases

iPTMnetiQ6P444.
PhosphoSiteiQ6P444.

Expressioni

Gene expression databases

BgeeiENSG00000146410.
CleanExiHS_FAM54A.
ExpressionAtlasiQ6P444. baseline and differential.
GenevisibleiQ6P444. HS.

Organism-specific databases

HPAiHPA029792.
HPA029794.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ALAS1P131965EBI-10252703,EBI-3905054
GOLGA2Q083793EBI-10252703,EBI-618309
MAGEA12Q6FHH83EBI-10252703,EBI-10178394
TFIP11Q9UBB93EBI-10252703,EBI-1105213
TRIM23P364063EBI-10252703,EBI-740098

Protein-protein interaction databases

BioGridi125224. 15 interactions.
IntActiQ6P444. 5 interactions.
STRINGi9606.ENSP00000395232.

Structurei

3D structure databases

ProteinModelPortaliQ6P444.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi198 – 23134Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the MTFR1 family.Curated

Phylogenomic databases

eggNOGiENOG410IIXQ. Eukaryota.
ENOG41122F0. LUCA.
GeneTreeiENSGT00530000063223.
HOVERGENiHBG100593.
InParanoidiQ6P444.
OMAiFRNSIWK.
OrthoDBiEOG091G0DDL.
PhylomeDBiQ6P444.
TreeFamiTF331404.

Family and domain databases

InterProiIPR007972. Mtfr1.
[Graphical view]
PANTHERiPTHR14215. PTHR14215. 1 hit.
PfamiPF05308. Mito_fiss_reg. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P444-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLILNILRE MLEYFGVPVE QVLLIWENKD YGSTRSIVRI IGKMLPLEPC
60 70 80 90 100
RRPNFELIPL LNSVDSDNCG SMVPSFADIL YVANDEEASY LRFRNSIWKN
110 120 130 140 150
EEEKVEIFHP LRLVRDPLSP AVRQKETVKN DLPVNEAAIR KIAALENELT
160 170 180 190 200
FLRSQIAAIV EMQELKNSTN SSSFGLSDER ISLGQLSSSR AAHLSVDPDQ
210 220 230 240 250
LPGSVLSPPP PPPLPPQFSS LQPPCFPPVQ PGSNNICDSD NPATEMSKQN
260 270 280 290 300
PAANKTNYSH HSKSQRNKDI PNMLDVLKDM NKVKLRAIER SPGGRPIHKR
310 320 330 340 350
KRQNSHWDPV SLISHALKQK FAFQEDDSFE KENRSWESSP FSSPETSRFG
360 370 380
HHISQSEGQR TKEEMVNTKA VDQGISNTSL LNSRI
Length:385
Mass (Da):43,384
Last modified:December 7, 2004 - v2
Checksum:i20A2970A9129CBB7
GO
Isoform 2 (identifier: Q6P444-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     22-44: VLLIWENKDYGSTRSIVRIIGKM → LEVTSAYLSSLWKKQTGRNLRST
     45-385: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.
Show »
Length:44
Mass (Da):5,116
Checksum:iB0223F0AFA6B2684
GO

Sequence cautioni

The sequence BAC86277 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAI17908 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence CAI95284 differs from that shown. Reason: Erroneous gene model prediction. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei22 – 4423VLLIW…IIGKM → LEVTSAYLSSLWKKQTGRNL RST in isoform 2. 1 PublicationVSP_039795Add
BLAST
Alternative sequencei45 – 385341Missing in isoform 2. 1 PublicationVSP_039796Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125758 mRNA. Translation: BAC86277.1. Sequence problems.
AK292303 mRNA. Translation: BAF84992.1.
AL121713, AL138828 Genomic DNA. Translation: CAI17908.1. Sequence problems.
AL138828, AL121713 Genomic DNA. Translation: CAI95284.1. Sequence problems.
CH471051 Genomic DNA. Translation: EAW47953.1.
CH471051 Genomic DNA. Translation: EAW47954.1.
BC011716 mRNA. Translation: AAH11716.2.
BC063688 mRNA. Translation: AAH63688.2.
CCDSiCCDS5176.1. [Q6P444-1]
RefSeqiNP_001092756.1. NM_001099286.2. [Q6P444-1]
NP_001305667.1. NM_001318738.1.
NP_612428.2. NM_138419.4. [Q6P444-1]
XP_011533712.1. XM_011535410.2.
XP_011533714.1. XM_011535412.2.
XP_011533715.1. XM_011535413.2.
UniGeneiHs.121536.

Genome annotation databases

EnsembliENST00000367784; ENSP00000356758; ENSG00000146410. [Q6P444-2]
ENST00000420702; ENSP00000395232; ENSG00000146410. [Q6P444-1]
ENST00000451457; ENSP00000407010; ENSG00000146410. [Q6P444-1]
GeneIDi113115.
KEGGihsa:113115.
UCSCiuc003qgt.2. human. [Q6P444-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125758 mRNA. Translation: BAC86277.1. Sequence problems.
AK292303 mRNA. Translation: BAF84992.1.
AL121713, AL138828 Genomic DNA. Translation: CAI17908.1. Sequence problems.
AL138828, AL121713 Genomic DNA. Translation: CAI95284.1. Sequence problems.
CH471051 Genomic DNA. Translation: EAW47953.1.
CH471051 Genomic DNA. Translation: EAW47954.1.
BC011716 mRNA. Translation: AAH11716.2.
BC063688 mRNA. Translation: AAH63688.2.
CCDSiCCDS5176.1. [Q6P444-1]
RefSeqiNP_001092756.1. NM_001099286.2. [Q6P444-1]
NP_001305667.1. NM_001318738.1.
NP_612428.2. NM_138419.4. [Q6P444-1]
XP_011533712.1. XM_011535410.2.
XP_011533714.1. XM_011535412.2.
XP_011533715.1. XM_011535413.2.
UniGeneiHs.121536.

3D structure databases

ProteinModelPortaliQ6P444.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125224. 15 interactions.
IntActiQ6P444. 5 interactions.
STRINGi9606.ENSP00000395232.

PTM databases

iPTMnetiQ6P444.
PhosphoSiteiQ6P444.

Polymorphism and mutation databases

BioMutaiMTFR2.
DMDMi56404526.

Proteomic databases

EPDiQ6P444.
MaxQBiQ6P444.
PaxDbiQ6P444.
PeptideAtlasiQ6P444.
PRIDEiQ6P444.

Protocols and materials databases

DNASUi113115.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367784; ENSP00000356758; ENSG00000146410. [Q6P444-2]
ENST00000420702; ENSP00000395232; ENSG00000146410. [Q6P444-1]
ENST00000451457; ENSP00000407010; ENSG00000146410. [Q6P444-1]
GeneIDi113115.
KEGGihsa:113115.
UCSCiuc003qgt.2. human. [Q6P444-1]

Organism-specific databases

CTDi113115.
GeneCardsiMTFR2.
HGNCiHGNC:21115. MTFR2.
HPAiHPA029792.
HPA029794.
neXtProtiNX_Q6P444.
PharmGKBiPA134871105.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIXQ. Eukaryota.
ENOG41122F0. LUCA.
GeneTreeiENSGT00530000063223.
HOVERGENiHBG100593.
InParanoidiQ6P444.
OMAiFRNSIWK.
OrthoDBiEOG091G0DDL.
PhylomeDBiQ6P444.
TreeFamiTF331404.

Miscellaneous databases

GenomeRNAii113115.
PROiQ6P444.

Gene expression databases

BgeeiENSG00000146410.
CleanExiHS_FAM54A.
ExpressionAtlasiQ6P444. baseline and differential.
GenevisibleiQ6P444. HS.

Family and domain databases

InterProiIPR007972. Mtfr1.
[Graphical view]
PANTHERiPTHR14215. PTHR14215. 1 hit.
PfamiPF05308. Mito_fiss_reg. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTFR2_HUMAN
AccessioniPrimary (citable) accession number: Q6P444
Secondary accession number(s): A8K8D8
, E1P585, Q5JWR7, Q6ZUE8, Q7L3U6, Q9BZ39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 7, 2004
Last modified: September 7, 2016
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.