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    MIA3 MIA SH3 domain ER export factor 3 [ Homo sapiens (human) ]

    Gene ID: 375056, updated on 5-May-2024

    Summary

    Official Symbol
    MIA3provided by HGNC
    Official Full Name
    MIA SH3 domain ER export factor 3provided by HGNC
    Primary source
    HGNC:HGNC:24008
    See related
    Ensembl:ENSG00000154305 MIM:613455; AllianceGenome:HGNC:24008
    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
    ARNT; D320; ODCD2; TANGO; TANGO1; UNQ6077
    Summary
    Enables cargo receptor activity. Involved in several processes, including COPII-coated vesicle cargo loading; cell migration involved in sprouting angiogenesis; and regulation of leukocyte migration. Located in endoplasmic reticulum exit site and endoplasmic reticulum membrane. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MIA3 in Genome Data Viewer
    Location:
    1q41
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (222618097..222668007)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (221851826..221901751)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222791439..222841349)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:222699854-222700038 Neighboring gene HHIP like 2 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2576 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:222763242-222763775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:222763776-222764308 Neighboring gene TAF1A antisense RNA 1 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:222791257-222792139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2577 Neighboring gene prefoldin subunit 5-like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:222816645-222817522 and GRCh37_chr1:222817523-222818398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2581 Neighboring gene axin interactor, dorsalization associated Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5183 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:222885601-222886515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2582 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5205 Neighboring gene BRO1 domain and CAAX motif containing

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Odontochondrodysplasia 2 with hearing loss and diabetes
    MedGen: C5543275 OMIM: 619269 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
    EBI GWAS Catalog
    Genomewide association analysis of coronary artery disease.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with MIA3; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21469, FLJ39207, KIAA0268

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in COPII-coated vesicle cargo loading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration involved in sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to oxidised low-density lipoprotein particle stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipoprotein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of leukocyte cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of lymphocyte migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of leukocyte migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to endoplasmic reticulum exit site IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transport and Golgi organization protein 1 homolog
    Names
    C219-reactive peptide
    MIA family member 3, ER export factor
    melanoma inhibitory activity family, member 3
    melanoma inhibitory activity protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001300867.2NP_001287796.1  transport and Golgi organization protein 1 homolog isoform 2

      See identical proteins and their annotated locations for NP_001287796.1

      Status: VALIDATED

      Source sequence(s)
      AK296712, AL592148, BC047116
      Consensus CDS
      CCDS73035.1
      UniProtKB/Swiss-Prot
      Q5JRA6
      Related
      ENSP00000345866.7, ENST00000340535.11
      Conserved Domains (1) summary
      pfam06409
      Location:38248
      NPIP; Nuclear pore complex interacting protein (NPIP)
    2. NM_001324062.2NP_001310991.1  transport and Golgi organization protein 1 homolog isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL592148, KF459535
      Conserved Domains (3) summary
      cd11893
      Location:37109
      SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
      pfam06346
      Location:17101914
      Drf_FH1; Formin Homology Region 1
      pfam06409
      Location:11601370
      NPIP; Nuclear pore complex interacting protein (NPIP)
    3. NM_001324063.2NP_001310992.1  transport and Golgi organization protein 1 homolog isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL592148, KF459535
      UniProtKB/Swiss-Prot
      Q5JRA6
    4. NM_001324064.2NP_001310993.1  transport and Golgi organization protein 1 homolog isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL592148, KF459535
    5. NM_001324065.2NP_001310994.1  transport and Golgi organization protein 1 homolog isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL592148, KF459535
    6. NM_198551.4NP_940953.2  transport and Golgi organization protein 1 homolog isoform 1 precursor

      See identical proteins and their annotated locations for NP_940953.2

      Status: VALIDATED

      Source sequence(s)
      AK096526, AL592148, BP423646, CK724924, D87742, DA040423
      Consensus CDS
      CCDS41470.1
      UniProtKB/Swiss-Prot
      A8K2S0, A8MT05, A8MT13, B7Z430, Q14083, Q3S4X3, Q5JRA5, Q5JRA6, Q5JRB0, Q5JRB1, Q5JRB2, Q6UVY8, Q86Y60, Q8N8M5, Q92580
      Related
      ENSP00000340900.5, ENST00000344922.10
      Conserved Domains (3) summary
      cd11893
      Location:37109
      SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
      pfam06346
      Location:16551874
      Drf_FH1; Formin Homology Region 1
      pfam06409
      Location:11601370
      NPIP; Nuclear pore complex interacting protein (NPIP)

    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
      222618097..222668007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711304.5XP_006711367.3  transport and Golgi organization protein 1 homolog isoform X1

      Conserved Domains (3) summary
      cd11893
      Location:37109
      SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
      cl25732
      Location:12141539
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26464
      Location:15851858
      Atrophin-1; Atrophin-1 family
    2. XM_011509513.4XP_011507815.3  transport and Golgi organization protein 1 homolog isoform X3

      Conserved Domains (2) summary
      cd11893
      Location:37109
      SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
      cl25732
      Location:12151542
      SMC_N; RecF/RecN/SMC N terminal domain
    3. XM_017001243.3XP_016856732.1  transport and Golgi organization protein 1 homolog isoform X2

    4. XM_047419783.1XP_047275739.1  transport and Golgi organization protein 1 homolog isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      221851826..221901751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336457.1XP_054192432.1  transport and Golgi organization protein 1 homolog isoform X1

    2. XM_054336459.1XP_054192434.1  transport and Golgi organization protein 1 homolog isoform X3

    3. XM_054336458.1XP_054192433.1  transport and Golgi organization protein 1 homolog isoform X2

    4. XM_054336460.1XP_054192435.1  transport and Golgi organization protein 1 homolog isoform X4