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Protein

Mitochondrial fission regulator 1

Gene

MTFR1

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. May also regulate mitochondrial organization and fission (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial fission regulator 1
Alternative name(s):
Chondrocyte protein with a poly-proline region
Gene namesi
Name:MTFR1
Synonyms:CHPPR, FAM54A2, KIAA0009
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:29510. MTFR1.

Subcellular locationi

  • Mitochondrion By similarity

  • Note: May be associated with the inner and the outer mitochondrial membrane.By similarity

GO - Cellular componenti

  • cytoplasm Source: HPA
  • mitochondrion Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671305.

Polymorphism and mutation databases

BioMutaiMTFR1.
DMDMi73920234.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4848MitochondrionSequence analysisAdd
BLAST
Chaini49 – 333285Mitochondrial fission regulator 1PRO_0000096622Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei119 – 1191PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15390.
MaxQBiQ15390.
PaxDbiQ15390.
PRIDEiQ15390.

PTM databases

iPTMnetiQ15390.
PhosphoSiteiQ15390.

Expressioni

Gene expression databases

BgeeiQ15390.
CleanExiHS_MTFR1.
ExpressionAtlasiQ15390. baseline and differential.
GenevisibleiQ15390. HS.

Organism-specific databases

HPAiHPA023152.
HPA056120.

Interactioni

Protein-protein interaction databases

BioGridi115008. 19 interactions.
IntActiQ15390. 4 interactions.
MINTiMINT-1387921.
STRINGi9606.ENSP00000262146.

Structurei

3D structure databases

ProteinModelPortaliQ15390.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni179 – 304126Necessary and sufficient to promote mitochondrial fissionBy similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili137 – 16933Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi184 – 19714Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the MTFR1 family.Curated

Keywords - Domaini

Coiled coil, Transit peptide

Phylogenomic databases

eggNOGiENOG410IEID. Eukaryota.
ENOG4111K5H. LUCA.
GeneTreeiENSGT00530000063223.
HOGENOMiHOG000013162.
HOVERGENiHBG056951.
InParanoidiQ15390.
OMAiDMPNMLE.
PhylomeDBiQ15390.
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: Q15390-1) [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
MLGWIKRLIR MVFQQVGVSM QSVLWSRKPY GSSRSIVRKI GTNLSLIQCP
60 70 80 90 100
RVQFQINSHA TEWSPSHPGE DAVASFADVG WVAKEEGECS ARLRTEVRSR
110 120 130 140 150
PPLQDDLLFF EKAPSRQISL PDLSQEEPQL KTPALANEEA LQKICALENE
160 170 180 190 200
LAALRAQIAK IVTQQEQQNL TAGDLDSTTF GTIPPHPPPP PPPLPPPALG
210 220 230 240 250
LHQSTSAVDL IKERREKRAN AGKTLVKNNP KKPEMPNMLE ILKEMNSVKL
260 270 280 290 300
RSVKRSEQDV KPKPVDATDP AALIAEALKK KFAYRYRSDS QDEVEKGIPK
310 320 330
SESEATSERV LFGPHMLKPT GKMKALIENV SDS
Length:333
Mass (Da):37,000
Last modified:August 30, 2005 - v2
Checksum:iED8025FCF1B44827
GO
Isoform 2 (identifier: Q15390-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     23-55: Missing.

Note: No experimental confirmation available.
Show »
Length:300
Mass (Da):33,200
Checksum:iD0FA2FF4881472CF
GO

Sequence cautioni

The sequence BAA02798.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti135 – 1351L → R in AAH36116 (PubMed:16421571).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei23 – 5533Missing in isoform 2. 1 PublicationVSP_046765Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC055822 Genomic DNA. No translation available.
BC036116 mRNA. Translation: AAH36116.1.
BC043498 mRNA. Translation: AAH43498.1.
BX537854 mRNA. Translation: CAD97862.1.
D13634 mRNA. Translation: BAA02798.1. Different initiation.
CR456910 mRNA. Translation: CAG33191.1.
CCDSiCCDS55240.1. [Q15390-2]
CCDS6182.1. [Q15390-1]
RefSeqiNP_001139310.1. NM_001145838.1. [Q15390-2]
NP_055452.3. NM_014637.3. [Q15390-1]
UniGeneiHs.584788.

Genome annotation databases

EnsembliENST00000262146; ENSP00000262146; ENSG00000066855. [Q15390-1]
ENST00000458689; ENSP00000391502; ENSG00000066855. [Q15390-2]
GeneIDi9650.
KEGGihsa:9650.
UCSCiuc003xvm.3. human. [Q15390-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC055822 Genomic DNA. No translation available.
BC036116 mRNA. Translation: AAH36116.1.
BC043498 mRNA. Translation: AAH43498.1.
BX537854 mRNA. Translation: CAD97862.1.
D13634 mRNA. Translation: BAA02798.1. Different initiation.
CR456910 mRNA. Translation: CAG33191.1.
CCDSiCCDS55240.1. [Q15390-2]
CCDS6182.1. [Q15390-1]
RefSeqiNP_001139310.1. NM_001145838.1. [Q15390-2]
NP_055452.3. NM_014637.3. [Q15390-1]
UniGeneiHs.584788.

3D structure databases

ProteinModelPortaliQ15390.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115008. 19 interactions.
IntActiQ15390. 4 interactions.
MINTiMINT-1387921.
STRINGi9606.ENSP00000262146.

PTM databases

iPTMnetiQ15390.
PhosphoSiteiQ15390.

Polymorphism and mutation databases

BioMutaiMTFR1.
DMDMi73920234.

Proteomic databases

EPDiQ15390.
MaxQBiQ15390.
PaxDbiQ15390.
PRIDEiQ15390.

Protocols and materials databases

DNASUi9650.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262146; ENSP00000262146; ENSG00000066855. [Q15390-1]
ENST00000458689; ENSP00000391502; ENSG00000066855. [Q15390-2]
GeneIDi9650.
KEGGihsa:9650.
UCSCiuc003xvm.3. human. [Q15390-1]

Organism-specific databases

CTDi9650.
GeneCardsiMTFR1.
HGNCiHGNC:29510. MTFR1.
HPAiHPA023152.
HPA056120.
neXtProtiNX_Q15390.
PharmGKBiPA142671305.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEID. Eukaryota.
ENOG4111K5H. LUCA.
GeneTreeiENSGT00530000063223.
HOGENOMiHOG000013162.
HOVERGENiHBG056951.
InParanoidiQ15390.
OMAiDMPNMLE.
PhylomeDBiQ15390.
TreeFamiTF331404.

Miscellaneous databases

GenomeRNAii9650.
PROiQ15390.

Gene expression databases

BgeeiQ15390.
CleanExiHS_MTFR1.
ExpressionAtlasiQ15390. baseline and differential.
GenevisibleiQ15390. HS.

Family and domain databases

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

Publicationsi

  1. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung and Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-333 (ISOFORM 2).
    Tissue: Liver.
  4. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
    Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
    DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-333 (ISOFORM 1).
    Tissue: Bone marrow.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-333 (ISOFORM 1).
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-119, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiMTFR1_HUMAN
AccessioniPrimary (citable) accession number: Q15390
Secondary accession number(s): E7EP84
, Q6IB94, Q7Z669, Q86XH5, Q8IVD7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: August 30, 2005
Last modified: June 8, 2016
This is version 119 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 8
    Human chromosome 8: 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.