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MIA3 melanoma inhibitory activity family member 3 [ Homo sapiens (human) ]

Gene ID: 375056, updated on 8-May-2016
Official Symbol
MIA3provided by HGNC
Official Full Name
melanoma inhibitory activity family member 3provided by HGNC
Primary source
HGNC:HGNC:24008
See related
Ensembl:ENSG00000154305 MIM:613455; Vega:OTTHUMG00000037543
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
Orthologs
Location:
1q41
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (222618102..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 HHIP like 2 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit A Neighboring gene TAF1A antisense RNA 1 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
    Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21469, FLJ39207, KIAA0268

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
exocytosis 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 
positive regulation of leukocyte migration IDA
Inferred from Direct Assay
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
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 IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
melanoma inhibitory activity protein 3
Names
C219-reactive peptide
melanoma inhibitory activity family, member 3
transport and Golgi organization protein 1

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  melanoma inhibitory activity protein 3 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, OTTHUMP00000035767, ENST00000340535, OTTHUMT00000091798
    Conserved Domains (3) summary
    pfam04778
    Location:93246
    LMP; LMP repeated region
    pfam10212
    Location:429470
    TTKRSYEDQ; Predicted coiled-coil domain-containing protein
    pfam06409
    Location:38250
    NPIP; Nuclear pore complex interacting protein (NPIP)
  2. NM_001324062.1NP_001310991.1  melanoma inhibitory activity protein 3 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535
  3. NM_001324063.1NP_001310992.1  melanoma inhibitory activity protein 3 isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535
  4. NM_001324064.1NP_001310993.1  melanoma inhibitory activity protein 3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535
  5. NM_001324065.1NP_001310994.1  melanoma inhibitory activity protein 3 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL592148, KF459535
  6. NM_198551.3NP_940953.2  melanoma inhibitory activity protein 3 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, OTTHUMP00000035650, ENST00000344922, OTTHUMT00000091489
    Conserved Domains (3) summary
    pfam04778
    Location:12151368
    LMP; LMP repeated region
    cd11893
    Location:37109
    SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
    pfam06409
    Location:11601372
    NPIP; Nuclear pore complex interacting protein (NPIP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    222618102..222668012
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273121.3XP_005273178.1  

    Conserved Domains (3) summary
    pfam04778
    Location:12151368
    LMP; LMP repeated region
    cd11893
    Location:37109
    SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
    pfam06409
    Location:11601372
    NPIP; Nuclear pore complex interacting protein (NPIP)
  2. XM_006711304.2XP_006711367.1  

    Conserved Domains (2) summary
    cd11893
    Location:37109
    SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
    pfam06409
    Location:11601204
    NPIP; Nuclear pore complex interacting protein (NPIP)
  3. XM_011509513.1XP_011507815.1  

    Conserved Domains (2) summary
    cd11893
    Location:37109
    SH3_MIA3; Src Homology 3 domain of Melanoma Inhibitory Activity 3 protein
    pfam06409
    Location:11601372
    NPIP; Nuclear pore complex interacting protein (NPIP)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    224063933..224113869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)