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MIGA1 mitoguardin 1 [ Homo sapiens (human) ]

Gene ID: 374986, updated on 3-Apr-2024

Summary

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Official Symbol
MIGA1provided by HGNC
Official Full Name
mitoguardin 1provided by HGNC
Primary source
HGNC:HGNC:24741
See related
Ensembl:ENSG00000180488 MIM:616773; AllianceGenome:HGNC:24741
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM73A
Summary
Enables protein heterodimerization activity and protein homodimerization activity. Involved in mitochondrial fusion. Located in mitochondrion. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 8.8), thyroid (RPKM 7.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p31.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (77779649..77879540)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (77618463..77718372)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (78245334..78345225)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:78241322-78241846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1221 Neighboring gene actin gamma 1 pseudogene 21 Neighboring gene RNA, 5S ribosomal pseudogene 21 Neighboring gene axin interactor, dorsalization associated pseudogene Neighboring gene nuclear speckle splicing regulatory protein 1 pseudogene 1 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 25 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:78336231-78337101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1222 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1005 Neighboring gene NEXN antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78374978-78375131 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:78383688-78384887 Neighboring gene nexilin F-actin binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1006 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:78431300-78431502 Neighboring gene far upstream element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1228 Neighboring gene DnaJ heat shock protein family (Hsp40) member B4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mitoguardin-1 and -2 promote maturation and the developmental potential of mouse oocytes by maintaining mitochondrial dynamics and functions. Liu XM, et al. Oncotarget, 2016 Jan 12. PMID 26716412, Free PMC Article
  2. Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. Zhang Y, et al. Mol Cell, 2016 Jan 7. PMID 26711011
  3. MITOL regulates phosphatidic acid-binding activity of RMDN3/PTPIP51. Ito N, et al. J Biochem, 2022 May 11. PMID 34964862
  4. Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs. Almasy KM, et al. Mol Cell Proteomics, 2021. PMID 34186245, Free PMC Article
  5. C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy. Yan BR, et al. Autophagy, 2022 Apr. PMID 34432599, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Propose that MIGA proteins promote mitochondrial fusion by regulating mitochondrial phospholipid metabolism via MitoPLD.
    Title: Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35093, DKFZp686M07166

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial fusion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial fusion IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
mitoguardin 1
Names
family with sequence similarity 73, member A
protein FAM73A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270384.2 → NP_001257313.1  mitoguardin 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS72809.1
    UniProtKB/TrEMBL
    B7ZLZ8
    Conserved Domains (1) summary
    pfam10265
    Location:59 → 604
    DUF2217; Uncharacterized conserved protein (DUF2217)

  2. NM_001363583.1 → NP_001350512.1  mitoguardin 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS85989.1
    UniProtKB/TrEMBL
    A0A2R8YF99, B7ZLZ8
    Related
    ENSP00000494964.1, ENST00000645526.1
    Conserved Domains (1) summary
    pfam10265
    Location:27 → 571
    Miga; Mitoguardin

  3. NM_001363584.1 → NP_001350513.1  mitoguardin 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS85989.1
    UniProtKB/TrEMBL
    A0A2R8YF99, B7ZLZ8
    Conserved Domains (1) summary
    pfam10265
    Location:27 → 571
    Miga; Mitoguardin

  4. NM_001363586.1 → NP_001350515.1  mitoguardin 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS85989.1
    UniProtKB/TrEMBL
    A0A2R8YF99, B7ZLZ8
    Conserved Domains (1) summary
    pfam10265
    Location:27 → 571
    Miga; Mitoguardin

  5. NM_001394566.1 → NP_001381495.1  mitoguardin 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90979.1
    UniProtKB/TrEMBL
    B4DK63

  6. NM_001394567.1 → NP_001381496.1  mitoguardin 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90981.1
    UniProtKB/TrEMBL
    A0A2R8YE40, B7ZLZ8, F8W7S1

  7. NM_001394568.1 → NP_001381497.1  mitoguardin 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90981.1
    UniProtKB/TrEMBL
    A0A2R8YE40, B7ZLZ8, F8W7S1

  8. NM_001394569.1 → NP_001381498.1  mitoguardin 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90981.1
    UniProtKB/TrEMBL
    A0A2R8YE40, B7ZLZ8, F8W7S1
    Related
    ENSP00000495239.1, ENST00000646892.1

  9. NM_001394570.1 → NP_001381499.1  mitoguardin 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90981.1
    UniProtKB/TrEMBL
    A0A2R8YE40, B7ZLZ8, F8W7S1
    Related
    ENSP00000393675.4, ENST00000443751.4

  10. NM_001394571.1 → NP_001381500.1  mitoguardin 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS85989.1
    UniProtKB/TrEMBL
    A0A2R8YF99, B7ZLZ8
    Conserved Domains (1) summary
    pfam10265
    Location:27 → 571
    Miga; Mitoguardin

  11. NM_001394572.1 → NP_001381501.1  mitoguardin 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    UniProtKB/TrEMBL
    A0AA34QW11, B4DK63
    Related
    ENSP00000518550.1, ENST00000710931.1

  12. NM_001394573.1 → NP_001381502.1  mitoguardin 1 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS90980.1
    UniProtKB/TrEMBL
    A0A2R8YFQ8

  13. NM_001394574.1 → NP_001381503.1  mitoguardin 1 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    UniProtKB/TrEMBL
    A0A2R8YGK2, B4DK63
    Related
    ENSP00000496099.2, ENST00000642959.2

  14. NM_001394575.1 → NP_001381504.1  mitoguardin 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    UniProtKB/TrEMBL
    A0A2R8YDC7, A0A2R8YFQ8

  15. NM_001394576.1 → NP_001381505.1  mitoguardin 1 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    UniProtKB/TrEMBL
    A0A2R8YDC7, A0A2R8YFQ8
    Related
    ENSP00000494444.2, ENST00000645756.2

  16. NM_001416120.1 → NP_001403049.1  mitoguardin 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    UniProtKB/TrEMBL
    A0A2R8YF99
    Related
    ENSP00000359827.4, ENST00000370791.9

  17. NM_198549.4 → NP_940951.1  mitoguardin 1 isoform 1

    See identical proteins and their annotated locations for NP_940951.1

    Status: VALIDATED

    Source sequence(s)
    AC114487, AC138392
    Consensus CDS
    CCDS681.1
    UniProtKB/Swiss-Prot
    Q6MZG0, Q8NAN2
    UniProtKB/TrEMBL
    B7ZLZ8
    Related
    ENSP00000518551.1, ENST00000710932.1
    Conserved Domains (1) summary
    pfam10265
    Location:59 → 603
    DUF2217; Uncharacterized conserved protein (DUF2217)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    77779649..77879540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    77618463..77718372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NAN2.1 GenPept UniProtKB/Swiss-Prot:Q8NAN2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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