TANGO1/MIA3

MIA3
Identifiers
Gene ontology
Molecular function	protein binding; cargo receptor activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; endoplasmic reticulum exit site; Golgi membrane; endoplasmic reticulum lumen; intracellular membrane-bounded organelle;
Biological process	protein transport; negative regulation of cell adhesion; negative regulation of cell migration; wound healing; vesicle-mediated transport; positive regulation of leukocyte migration; exocytosis; endoplasmic reticulum to Golgi vesicle-mediated transport; COPII-coated vesicle cargo loading; lipoprotein transport; post-translational protein modification; transport; cell migration involved in sprouting angiogenesis; endoplasmic reticulum organization; protein secretion; vesicle cargo loading; protein localization to endoplasmic reticulum exit site; cellular response to oxidised low-density lipoprotein particle stimulus; negative regulation of leukocyte cell-cell adhesion; negative regulation of lymphocyte migration; endocytosis;
	Sources:Amigo / QuickGO

Ensembl


ENSG00000154305


ENSMUSG00000056050

UniProt


Q5JRA6


Q8BI84

RefSeq (mRNA)

NM_001300867 NM_198551 NM_001324062 NM_001324063 NM_001324064
NM_001324065


NM_177389

RefSeq (protein)

NP_001287796 NP_001310991 NP_001310992 NP_001310993 NP_001310994
NP_940953


NP_796363

Location (UCSC)

Chr 1: 222.62 – 222.67 Mb

n/a

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Melanoma inhibitory activity protein 3 (MIA3), also known as transport and

tumor suppression^[9]^[10] and progression.^[11] The MIA3 gene also contains one of 27 loci associated with increased risk of coronary artery disease.^[12]

. A TANGO1 like protein called TALI is expressed in liver and intestine and shown to be required for the export of bulky very Low density lipoproteins (VLDL) and chylomicrons. TANGO1 and TALI assemble into rings around COPII coats and this function is necessary for export of bulky cargoes. The discovery of TANGO1 and understanding its function has revealed that cargo export from the ER is not be vesicles but involves transient tunnels between the ER exit site and the next compartment of the secretory pathway. Biallelic Mutations in TANGO1 cause syndrome disease and complete loss of TANGO1 leads of defects in bone mineralization. These findings highlight the significance of TANGO1 in building and ER exit site, controlling the quantities and quality of cargo exported, which is necessary for life.

Structure

Gene

The MIA3 gene resides on chromosome 1 at the band 1q41 and includes 32

isoforms through alternative splicing.^[5]

Protein

MIA3 is a member of the

hairpin structure that is only embedded in but not crossing the membrane.^[5]^[7]

Function

Unlike other members in the MIA gene family, MIA3 is broadly expressed, except in the cells belonging to the

squamous cell carcinoma.^[11]

In humans, MIA3 was first discovered as an important constituent in the growth and adhesion in malignant melanoma cells. As it is secreted from both chondrocytes and melanoma cells, it also plays a role in the metastasis of melanomas as well as cartilage development.^[15]^[16]^[17]^[18] It has been established that melanoma inhibitory gene family members serve several tumor-related functions that are subjected to a variety of human malignancies.

Clinical Marker

It was found that melanoma inhibitory activity gene family members are frequently expressed in human tumors such as

squamous cell carcinoma,^[11]^[15] esophageal squamous cell carcinoma,^[19] lung cancer with nodal or distant metastasis and cervical cancer.^[15] In addition, melanoma inhibitory activity gene family expression is also associated with poor prognosis among cancer patients overall.^[11]^[20]^[21]^[22]^[23] Nevertheless, further research is needed to determine the association between melanoma inhibitory family member expression and its diagnostic, prognostic and therapeutic relevance in clinical oncology.^[15]^[21]

Additionally, a multi-locus genetic risk score study, based on a combination of 27 loci including the MIA3 gene, identified individuals at increased risk for both incidence and recurrent coronary artery disease events, as well as an enhanced clinical benefit from statin therapy. The study was based on a community cohort study (the Malmo Diet and Cancer study) and four additional randomized controlled trials of primary prevention cohorts (JUPITER and ASCOT) and secondary prevention cohorts (CARE and PROVE IT-TIMI 22).^[12]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000154305 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "MIA3 MIA family member 3, ER export factor [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-08-19.
^ ^a ^b ^c ^d "MIA3 – Melanoma inhibitory activity protein 3 precursor – Homo sapiens (Human) – MIA3 gene & protein". www.uniprot.org. Retrieved 2016-08-19.
^ "BioGPS – your Gene Portal System". biogps.org. Retrieved 2016-08-19.
^
S2CID 19027969
.

^
PMID 21606205
.

^
PMID 17044017
.

^
PMID 17786351
.

^
PMID 24889917
.

^
PMID 25748612
.

PMID 15183315
.

PMID 21525241
.

^
PMID 11331761
.

S2CID 205556708
.

S2CID 28914372
.

PMID 27145272
.

S2CID 36877820
.

PMID 15710044
.

^
PMID 20570137
.

PMID 23511560
.

S2CID 288484
.

Retrieved from "https://en.wikipedia.org/w/index.php?title=TANGO1/MIA3&oldid=1187412982"

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000154305 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez2-4] "MIA3 MIA family member 3, ER export factor [Homo sapiens (human)] – Gene – NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-08-19.

[UniProt_Q5JRA62-5] "MIA3 – Melanoma inhibitory activity protein 3 precursor – Homo sapiens (Human) – MIA3 gene & protein". www.uniprot.org. Retrieved 2016-08-19.

[TnPzd-6] "BioGPS – your Gene Portal System". biogps.org. Retrieved 2016-08-19.

[mal01-7] 
S2CID 19027969
.

[pmid21606205-8] 
PMID 21606205
.

[pmid17044017-9] 
PMID 17044017
.

[pmid17786351-10] 
PMID 17786351
.

[pmid24889917-11] 
PMID 24889917
.

[pmid25748612-12] 
PMID 25748612
.

[pmid15183315-13] PMID 15183315
.

[pmid21525241-14] PMID 21525241
.

[pmid11331761-15] 
PMID 11331761
.

[a8D7B-16] S2CID 205556708
.

[d2ReY-17] S2CID 28914372
.

[cyO30-18] PMID 27145272
.

[JQvoD-19] S2CID 36877820
.

[hx4Bu-20] PMID 15710044
.

[Sasahira_T_2010-21] 
PMID 20570137
.

[IXFkd-22] PMID 23511560
.

[mvmTF-23] S2CID 288484
.

[2]

[3]

[9]

[10]

[11]

[12]

[5]

[7]

[15]

[16]

[17]

[18]

[19]

[20]

[21]

[22]

[23]