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

Gene ID: 375056, updated on 8-Jul-2021

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
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
Expression
Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs
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Genomic context

See MIA3 in Genome Data Viewer
Location:
1q41
Exon count:
32
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (222618097..222668007)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222791439..222841349)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985318 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H1 Neighboring gene prefoldin subunit 5 pseudogene Neighboring gene axin interactor, dorsalization associated Neighboring gene BRO1 domain and CAAX motif containing Neighboring gene family with sequence similarity 177 member B Neighboring gene uncharacterized LOC105372984

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
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
GeneReviews: Not available
Genomewide association analysis of coronary artery disease.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Odontochondrodysplasia 2 with hearing loss and diabetes
MedGen: CN296332 OMIM: 619269 GeneReviews: Not available
not available

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

Homology

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 endocytosis IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
PubMed 
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
PubMed 
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)

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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_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
    Q5JRA6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006711304.4XP_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_011509513.3XP_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_017001243.2XP_016856732.1  transport and Golgi organization protein 1 homolog isoform X2

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