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Protein

Mitochondrial fission regulator 1-like

Gene

MTFR1L

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

Functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial fission regulator 1-like
Gene namesi
Name:MTFR1L
Synonyms:FAM54B
ORF Names:HYST1888, MSTP116
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117640.17
HGNCiHGNC:28836 MTFR1L
neXtProtiNX_Q9H019

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

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000117640
PharmGKBiPA142671888

Polymorphism and mutation databases

BioMutaiMTFR1L
DMDMi190359323

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003415661 – 292Mitochondrial fission regulator 1-likeAdd BLAST292

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei30PhosphothreonineCombined sources1
Modified residuei41PhosphoserineCombined sources1
Modified residuei103PhosphoserineCombined sources1
Modified residuei110PhosphoserineCombined sources1
Modified residuei224PhosphoserineBy similarity1
Modified residuei225PhosphoserineBy similarity1
Modified residuei238PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1
Modified residuei273PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H019
MaxQBiQ9H019
PaxDbiQ9H019
PeptideAtlasiQ9H019
PRIDEiQ9H019
ProteomicsDBi80198
80199 [Q9H019-2]
80200 [Q9H019-3]
TopDownProteomicsiQ9H019-2 [Q9H019-2]

PTM databases

iPTMnetiQ9H019
PhosphoSitePlusiQ9H019

Expressioni

Gene expression databases

BgeeiENSG00000117640
CleanExiHS_FAM54B
ExpressionAtlasiQ9H019 baseline and differential
GenevisibleiQ9H019 HS

Organism-specific databases

HPAiHPA027124
HPA027130

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi121106, 24 interactors
IntActiQ9H019, 7 interactors
STRINGi9606.ENSP00000363418

Structurei

3D structure databases

ProteinModelPortaliQ9H019
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MTFR1 family.Curated

Phylogenomic databases

eggNOGiENOG410IEAK Eukaryota
ENOG4111FGJ LUCA
GeneTreeiENSGT00530000063223
HOVERGENiHBG103166
InParanoidiQ9H019
OMAiNVTIPIW
OrthoDBiEOG091G0DDL
PhylomeDBiQ9H019
TreeFamiTF331404

Family and domain databases

InterProiView protein in InterPro
IPR007972 Mtfr1
PANTHERiPTHR14215 PTHR14215, 1 hit
PfamiView protein in Pfam
PF05308 Mito_fiss_reg, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H019-1) [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
MSGMEATVTI PIWQNKPHGA ARSVVRRIGT NLPLKPCARA SFETLPNISD
60 70 80 90 100
LCLRDVPPVP TLADIAWIAA DEEETYARVR SDTRPLRHTW KPSPLIVMQR
110 120 130 140 150
NASVPNLRGS EERLLALKKP ALPALSRTTE LQDELSHLRS QIAKIVAADA
160 170 180 190 200
ASASLTPDFL SPGSSNVSSP LPCFGSSFHS TTSFVISDIT EETEVEVPEL
210 220 230 240 250
PSVPLLCSAS PECCKPEHKA ACSSSEEDDC VSLSKASSFA DMMGILKDFH
260 270 280 290
RMKQSQDLNR SLLKEEDPAV LISEVLRRKF ALKEEDISRK GN
Length:292
Mass (Da):31,957
Last modified:June 10, 2008 - v2
Checksum:i39B23825CA1638EF
GO
Isoform 2 (identifier: Q9H019-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-292: ASASLTPDFL...KEEDISRKGN → VTSPRRQRWR...LCPRPAALQT

Show »
Length:205
Mass (Da):22,772
Checksum:i307148C880E5ED61
GO
Isoform 3 (identifier: Q9H019-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-162: Missing.

Note: No experimental confirmation available.
Show »
Length:280
Mass (Da):30,770
Checksum:i77632C8F0CB0A11F
GO

Sequence cautioni

The sequence AAQ13638 differs from that shown. Reason: Frameshift at positions 7 and 49.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti87R → W in CAC21683 (PubMed:17974005).Curated1
Sequence conflicti136S → G in CAC21683 (PubMed:17974005).Curated1
Sequence conflicti273S → T in CAC21683 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04408458P → S. Corresponds to variant dbSNP:rs35448678Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_034338151 – 292ASASL…SRKGN → VTSPRRQRWRSLSFHQSPCF VLPALNVANQNTKLPAVRLK RMTASLCPRPAALQT in isoform 2. 2 PublicationsAdd BLAST142
Alternative sequenceiVSP_034339151 – 162Missing in isoform 3. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF173891 mRNA Translation: AAQ13638.1 Frameshift.
AB075880 mRNA Translation: BAD38662.1
AK290744 mRNA Translation: BAF83433.1
AL512766 mRNA Translation: CAC21683.1
BX647921 mRNA Translation: CAH56194.1
AL020996 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX07865.1
CH471059 Genomic DNA Translation: EAX07866.1
CH471059 Genomic DNA Translation: EAX07868.1
BC017175 mRNA Translation: AAH17175.1
CCDSiCCDS41284.1 [Q9H019-1]
CCDS44089.1 [Q9H019-2]
RefSeqiNP_001093095.1, NM_001099625.1 [Q9H019-1]
NP_001093096.1, NM_001099626.1 [Q9H019-1]
NP_001093097.1, NM_001099627.1 [Q9H019-2]
NP_062457.3, NM_019557.5 [Q9H019-1]
UniGeneiHs.149305

Genome annotation databases

EnsembliENST00000374300; ENSP00000363418; ENSG00000117640 [Q9H019-1]
ENST00000374301; ENSP00000363419; ENSG00000117640 [Q9H019-1]
ENST00000374303; ENSP00000363421; ENSG00000117640 [Q9H019-1]
ENST00000374307; ENSP00000363426; ENSG00000117640 [Q9H019-3]
ENST00000466284; ENSP00000434751; ENSG00000117640 [Q9H019-2]
ENST00000474295; ENSP00000435461; ENSG00000117640 [Q9H019-2]
GeneIDi56181
KEGGihsa:56181
UCSCiuc001bkq.5 human [Q9H019-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiMFR1L_HUMAN
AccessioniPrimary (citable) accession number: Q9H019
Secondary accession number(s): A6NCB4
, B7WNV5, D3DPJ4, Q63HP1, Q7Z2S7, Q9NUI7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: June 20, 2018
This is version 117 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

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