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    MIGA1 mitoguardin 1 [ Homo sapiens (human) ]

    Gene ID: 374986, updated on 17-Jun-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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    See MIGA1 in Genome Data Viewer
    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, B7ZLZ8
      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.

    Chemical Information
    Molecular Biology Databases
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