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Protein

Mitoguardin 2

Gene

MIGA2

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

Functioni

Regulator of mitochondrial fusion: acts by forming homo- and heterodimers at the mitochondrial outer membrane and facilitating the formation of PLD6/MitoPLD dimers. May act by regulating phospholipid metabolism via PLD6/MitoPLD.1 Publication

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • bone development Source: Ensembl
  • mitochondrial fusion Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Mitoguardin 21 Publication
Alternative name(s):
Protein FAM73BCurated
Gene namesi
Name:MIGA21 PublicationImported
Synonyms:C9orf54Imported, FAM73BImported
ORF Names:PSEC01121 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23621. MIGA2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei11 – 31HelicalSequence analysisAdd BLAST21
Transmembranei42 – 62HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • integral component of cell outer membrane Source: UniProtKB
  • mitochondrial outer membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi84895.
OpenTargetsiENSG00000148343.
PharmGKBiPA134896424.

Polymorphism and mutation databases

BioMutaiFAM73B.
DMDMi74749888.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003136571 – 593Mitoguardin 2Add BLAST593

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei132PhosphoserineBy similarity1
Modified residuei206PhosphothreonineBy similarity1
Modified residuei220PhosphoserineBy similarity1
Modified residuei224PhosphoserineCombined sources1
Modified residuei228PhosphoserineBy similarity1
Modified residuei273PhosphothreonineCombined sources1
Modified residuei276PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7L4E1.
MaxQBiQ7L4E1.
PaxDbiQ7L4E1.
PeptideAtlasiQ7L4E1.
PRIDEiQ7L4E1.

PTM databases

iPTMnetiQ7L4E1.
PhosphoSitePlusiQ7L4E1.

Expressioni

Gene expression databases

BgeeiENSG00000148343.
CleanExiHS_FAM73B.
ExpressionAtlasiQ7L4E1. baseline and differential.
GenevisibleiQ7L4E1. HS.

Organism-specific databases

HPAiHPA041363.

Interactioni

Subunit structurei

Homodimer and heterodimer; forms heterodimers with MIGA1 (PubMed:26711011). Interacts with PLD6/MitoPLD (PubMed:26711011).1 Publication

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi124335. 10 interactors.
STRINGi9606.ENSP00000351138.

Structurei

3D structure databases

ProteinModelPortaliQ7L4E1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi67 – 71Poly-Arg5
Compositional biasi105 – 148Ser-richAdd BLAST44

Sequence similaritiesi

Belongs to the mitoguardin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3831. Eukaryota.
ENOG410Y4ER. LUCA.
GeneTreeiENSGT00390000008565.
HOGENOMiHOG000286032.
HOVERGENiHBG106606.
InParanoidiQ7L4E1.
OMAiPEMGGEH.
OrthoDBiEOG091G03WK.
PhylomeDBiQ7L4E1.
TreeFamiTF313896.

Family and domain databases

InterProiIPR019392. Miga.
[Graphical view]
PANTHERiPTHR21508. PTHR21508. 1 hit.
PfamiPF10265. Miga. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q7L4E1-1) [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
MAFRRAEGTS MIQALAMTVA EIPVFLYTTF GQSAFSQLRL TPGLRKVLFA
60 70 80 90 100
TALGTVALAL AAHQLKRRRR RKKQVGPEMG GEQLGTVPLP ILLARKVPSV
110 120 130 140 150
KKGYSSRRVQ SPSSKSNDTL SGISSIEPSK HSGSSHSVAS MMAVNSSSPT
160 170 180 190 200
AACSGLWDAR GMEESLTTSD GNAESLYMQG MELFEEALQK WEQALSVGQR
210 220 230 240 250
GDSGSTPMPR DGLRNPETAS EPLSEPESQR KEFAEKLESL LHRAYHLQEE
260 270 280 290 300
FGSTFPADSM LLDLERTLML PLTEGSLRLR ADDEDSLTSE DSFFSATELF
310 320 330 340 350
ESLQTGDYPI PLSRPAAAYE EALQLVKEGR VPCRTLRTEL LGCYSDQDFL
360 370 380 390 400
AKLHCVRQAF EGLLEDKSNQ LFFGKVGRQM VTGLMTKAEK SPKGFLESYE
410 420 430 440 450
EMLSYALRPE TWATTRLELE GRGVVCMSFF DIVLDFILMD AFEDLENPPA
460 470 480 490 500
SVLAVLRNRW LSDSFKETAL ATACWSVLKA KRRLLMVPDG FISHFYSVSE
510 520 530 540 550
HVSPVLAFGF LGPKPQLAEV CAFFKHQIVQ YLRDMFDLDN VRYTSLPALA
560 570 580 590
DDILQLSRRR SEILLGYLGV PAASSAGVNG ALPRENGPLG ELQ
Length:593
Mass (Da):65,531
Last modified:December 21, 2004 - v1
Checksum:i128969424149397F
GO
Isoform 2 (identifier: Q7L4E1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     226-323: PESQRKEFAE...RPAAAYEEAL → TESHSVARLE...RGLAAAAGGR
     324-593: Missing.

Note: No experimental confirmation available.
Show »
Length:323
Mass (Da):34,083
Checksum:iB4DBD00107DB4203
GO
Isoform 3 (identifier: Q7L4E1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     338-349: TELLGCYSDQDF → APKASWRATRRC
     350-593: Missing.

Note: No experimental confirmation available.
Show »
Length:349
Mass (Da):38,248
Checksum:i4226070C236E647B
GO

Sequence cautioni

The sequence BAB55159 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB84953 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAW87861 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62A → G in BAB84953 (PubMed:12693554).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03769078E → K.Corresponds to variant rs6478859dbSNPEnsembl.1
Natural variantiVAR_037691100V → A.Corresponds to variant rs16930845dbSNPEnsembl.1
Natural variantiVAR_037692212G → S.Corresponds to variant rs17452596dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030087226 – 323PESQR…YEEAL → TESHSVARLECSGAISAQCN LRFLGSRDSPASASQVAGIT ARVTAEGVCREAGVPAAPCL PPAGGVRLHLPRRQHAARPR EDPHAAPDRGLAAAAGGR in isoform 2. 1 PublicationAdd BLAST98
Alternative sequenceiVSP_030088324 – 593Missing in isoform 2. 1 PublicationAdd BLAST270
Alternative sequenceiVSP_030089338 – 349TELLG…SDQDF → APKASWRATRRC in isoform 3. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_030090350 – 593Missing in isoform 3. 1 PublicationAdd BLAST244

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074127 mRNA. Translation: BAB84953.1. Different initiation.
AK075421 mRNA. Translation: BAC11611.1.
AL592211 Genomic DNA. Translation: CAI12367.3.
CH471090 Genomic DNA. Translation: EAW87861.1. Different initiation.
CH471090 Genomic DNA. Translation: EAW87862.1.
CH471090 Genomic DNA. Translation: EAW87864.1.
BC009114 mRNA. Translation: AAH09114.2.
AK027502 mRNA. Translation: BAB55159.1. Different initiation.
CCDSiCCDS6917.1. [Q7L4E1-1]
RefSeqiNP_001316919.1. NM_001329990.1.
NP_116198.3. NM_032809.3. [Q7L4E1-1]
UniGeneiHs.632693.

Genome annotation databases

EnsembliENST00000358369; ENSP00000351138; ENSG00000148343. [Q7L4E1-1]
ENST00000439290; ENSP00000391603; ENSG00000148343. [Q7L4E1-2]
ENST00000445183; ENSP00000396618; ENSG00000148343. [Q7L4E1-3]
GeneIDi84895.
KEGGihsa:84895.
UCSCiuc004bxa.4. human. [Q7L4E1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK074127 mRNA. Translation: BAB84953.1. Different initiation.
AK075421 mRNA. Translation: BAC11611.1.
AL592211 Genomic DNA. Translation: CAI12367.3.
CH471090 Genomic DNA. Translation: EAW87861.1. Different initiation.
CH471090 Genomic DNA. Translation: EAW87862.1.
CH471090 Genomic DNA. Translation: EAW87864.1.
BC009114 mRNA. Translation: AAH09114.2.
AK027502 mRNA. Translation: BAB55159.1. Different initiation.
CCDSiCCDS6917.1. [Q7L4E1-1]
RefSeqiNP_001316919.1. NM_001329990.1.
NP_116198.3. NM_032809.3. [Q7L4E1-1]
UniGeneiHs.632693.

3D structure databases

ProteinModelPortaliQ7L4E1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124335. 10 interactors.
STRINGi9606.ENSP00000351138.

PTM databases

iPTMnetiQ7L4E1.
PhosphoSitePlusiQ7L4E1.

Polymorphism and mutation databases

BioMutaiFAM73B.
DMDMi74749888.

Proteomic databases

EPDiQ7L4E1.
MaxQBiQ7L4E1.
PaxDbiQ7L4E1.
PeptideAtlasiQ7L4E1.
PRIDEiQ7L4E1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358369; ENSP00000351138; ENSG00000148343. [Q7L4E1-1]
ENST00000439290; ENSP00000391603; ENSG00000148343. [Q7L4E1-2]
ENST00000445183; ENSP00000396618; ENSG00000148343. [Q7L4E1-3]
GeneIDi84895.
KEGGihsa:84895.
UCSCiuc004bxa.4. human. [Q7L4E1-1]

Organism-specific databases

CTDi84895.
DisGeNETi84895.
GeneCardsiFAM73B.
H-InvDBHIX0008445.
HGNCiHGNC:23621. MIGA2.
HPAiHPA041363.
MIMi616774. gene.
neXtProtiNX_Q7L4E1.
OpenTargetsiENSG00000148343.
PharmGKBiPA134896424.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3831. Eukaryota.
ENOG410Y4ER. LUCA.
GeneTreeiENSGT00390000008565.
HOGENOMiHOG000286032.
HOVERGENiHBG106606.
InParanoidiQ7L4E1.
OMAiPEMGGEH.
OrthoDBiEOG091G03WK.
PhylomeDBiQ7L4E1.
TreeFamiTF313896.

Miscellaneous databases

ChiTaRSiFAM73B. human.
GeneWikiiFAM73B.
GenomeRNAii84895.
PROiQ7L4E1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148343.
CleanExiHS_FAM73B.
ExpressionAtlasiQ7L4E1. baseline and differential.
GenevisibleiQ7L4E1. HS.

Family and domain databases

InterProiIPR019392. Miga.
[Graphical view]
PANTHERiPTHR21508. PTHR21508. 1 hit.
PfamiPF10265. Miga. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMIGA2_HUMAN
AccessioniPrimary (citable) accession number: Q7L4E1
Secondary accession number(s): Q8NBM3, Q8TEJ6, Q969E6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: December 21, 2004
Last modified: November 30, 2016
This is version 104 of the entry and version 1 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 9
    Human chromosome 9: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.