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

Gene ID: 375056, updated on 1-Aug-2020

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; TANGO; TANGO1; UNQ6077
Expression
Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues See more
Orthologs

Genomic context

See MIA3 in Genome Data Viewer
Location:
1q41
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (222618097..222668012)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (222791444..222841351)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene uncharacterized LOC107985318 Neighboring gene TAF1A antisense RNA 1 Neighboring gene prefoldin subunit 5 pseudogene Neighboring gene axin interactor, dorsalization associated Neighboring gene BRO1 domain and CAAX motif containing Neighboring gene uncharacterized LOC105372984 Neighboring gene family with sequence similarity 177 member B

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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • FLJ21469, FLJ39207, KIAA0268

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cargo receptor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
cargo loading into COPII-coated vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 
cargo loading into vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration involved in sprouting angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to oxidised low-density lipoprotein particle stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipoprotein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of leukocyte cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of lymphocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of leukocyte migration IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein localization to endoplasmic reticulum exit site IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
wound healing IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum exit site IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA 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
transport and Golgi organization protein 1

NCBI Reference Sequences (RefSeq)

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_001300867.1NP_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, BG429750
    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_001324062.1NP_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_001324063.1NP_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_001324064.1NP_001310993.1  transport and Golgi organization protein 1 homolog isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535
  5. NM_001324065.1NP_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 Annotation Release 109.20200522

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..222668012
    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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