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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

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

EuPathDBiHostDB:ENSG00000146410.11.
HGNCiHGNC:21115. MTFR2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000146410.
PharmGKBiPA134871105.

Polymorphism and mutation databases

BioMutaiMTFR2.
DMDMi56404526.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000871642 – 385Mitochondrial fission regulator 2Add BLAST384

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1
Modified residuei119PhosphoserineCombined sources1
Modified residuei291PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6P444.
MaxQBiQ6P444.
PaxDbiQ6P444.
PeptideAtlasiQ6P444.
PRIDEiQ6P444.

PTM databases

iPTMnetiQ6P444.
PhosphoSitePlusiQ6P444.

Expressioni

Gene expression databases

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

Organism-specific databases

HPAiHPA029792.
HPA029794.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi125224. 16 interactors.
IntActiQ6P444. 7 interactors.
STRINGi9606.ENSP00000395232.

Structurei

3D structure databases

ProteinModelPortaliQ6P444.
SMRiQ6P444.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi198 – 231Pro-richAdd BLAST34

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

InterProiView protein in InterPro
IPR007972. Mtfr1.
PfamiView protein in Pfam
PF05308. Mito_fiss_reg. 1 hit.

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)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03979522 – 44VLLIW…IIGKM → LEVTSAYLSSLWKKQTGRNL RST in isoform 2. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_03979645 – 385Missing in isoform 2. 1 PublicationAdd BLAST341

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

Similar proteinsi

Entry informationi

Entry nameiMTFR2_HUMAN
AccessioniPrimary (citable) accession number: Q6P444
Secondary accession number(s): A8K8D8
, E1P585, Q5JWR7, Q6ZUE8, Q7L3U6, Q9BZ39
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: December 7, 2004
Last modified: September 27, 2017
This is version 106 of the entry and version 2 of the sequence. See 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