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Protein

Melanoma inhibitory activity protein 2

Gene

MIA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homeostasis (By similarity).By similarity1 Publication

Caution

It is unclear whether MIA2 and CTAGE5 constitute 2 distinct genes or a single one similar to MIA3.Curated

GO - Molecular functioni

  • lipoprotein transporter activity Source: UniProtKB

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoma inhibitory activity protein 2Curated
Gene namesi
Name:MIA2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000150526.11
HGNCiHGNC:18432 MIA2
MIMi608001 gene
neXtProtiNX_Q96PC5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 605LumenalCuratedAdd BLAST586
Intramembranei606 – 626Sequence analysisAdd BLAST21
Topological domaini627 – 646LumenalCuratedAdd BLAST20
Transmembranei647 – 667HelicalSequence analysisAdd BLAST21
Topological domaini668 – 1412CytoplasmicCuratedAdd BLAST745

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi4253
OpenTargetsiENSG00000150527
PharmGKBiPA134870998

Polymorphism and mutation databases

BioMutaiMIA2
DMDMi308153584

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000001903120 – 1412Melanoma inhibitory activity protein 2Add BLAST1393

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi59N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi368N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ96PC5
PaxDbiQ96PC5
PeptideAtlasiQ96PC5
PRIDEiQ96PC5
ProteomicsDBi77664
77665 [Q96PC5-2]

PTM databases

iPTMnetiQ96PC5
PhosphoSitePlusiQ96PC5

Expressioni

Tissue specificityi

Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon, pancreas, kidney, liver and prostate (PubMed:27138255).2 Publications

Gene expression databases

BgeeiENSG00000150526 Expressed in 68 organ(s), highest expression level in intestine
CleanExiHS_MIA2
ExpressionAtlasiQ96PC5 baseline and differential
GenevisibleiQ96PC5 HS

Organism-specific databases

HPAiHPA000387
HPA000922
HPA054066
HPA055459

Interactioni

Subunit structurei

Isoform 1 may interact with APOB and MIA3 (PubMed:27138255). Isoform 1 may interact with the COPII coat subunits SEC23A and SEC24C (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi125559, 3 interactors
STRINGi9606.ENSP00000280082

Structurei

3D structure databases

ProteinModelPortaliQ96PC5
SMRiQ96PC5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 101SH3PROSITE-ProRule annotationAdd BLAST63

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1118 – 1412Proline-rich domain (PRD); probably mediates interaction with COPII coat subunitsBy similarityAdd BLAST295

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili725 – 850Sequence analysisAdd BLAST126
Coiled coili948 – 1102Sequence analysisAdd BLAST155

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1297 – 1408Pro-richPROSITE-ProRule annotationAdd BLAST112

Domaini

The proline-rich domain (PRD) probably mediates interaction with the COPII coat subunits.By similarity

Sequence similaritiesi

Belongs to the MIA/OTOR family.Curated

Keywords - Domaini

Coiled coil, SH3 domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIF2 Eukaryota
ENOG41118PB LUCA
GeneTreeiENSGT00530000063635
HOGENOMiHOG000220907
HOVERGENiHBG049225
InParanoidiQ96PC5
OMAiLECETLM
OrthoDBiEOG091G0PEA
TreeFamiTF332724

Family and domain databases

CDDicd11892 SH3_MIA2, 1 hit
InterProiView protein in InterPro
IPR035555 MIA2_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF07653 SH3_2, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96PC5-3) [UniParc]FASTAAdd to basket
Also known as: TALI1 Publication

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKFGVHRIL LLAISLTKCL ESTKLLADLK KCGDLECEAL INRVSAMRDY
60 70 80 90 100
RGPDCRYLNF TKGEEISVYV KLAGEREDLW AGSKGKEFGY FPRDAVQIEE
110 120 130 140 150
VFISEEIQMS TKESDFLCLL GVSYTFDNED SELNGDYGEN IYPYEEDKDE
160 170 180 190 200
KSSIYESDFQ IEPGFYATYE STLFEDQVPA LEAPEDIGST SESKDWEEVV
210 220 230 240 250
VESMEQDRIP EVHVPPSSAV SGVKEWFGLG GEQAEEKAFE SVIEPVQESS
260 270 280 290 300
FRSRKIAVED ENDLEELNNG EPQTEHQQES ESEIDSVPKT QSELASESEH
310 320 330 340 350
IPKPQSTGWF GGGFTSYLGF GDEDTGLELI AEESNPPLQD FPNSISSDKE
360 370 380 390 400
ATVPCTEILT EKKDTITNDS LSLKPSWFDF GFAILGFAYA KEDKIMLDDR
410 420 430 440 450
KNEEDGGADE HEHPLTSELD PEKEQEIETI KIIETEDQID KKPVSEKTDE
460 470 480 490 500
SDTIPYLKKF LYNFDNPWNF QNIPKETELP FPKQILDQNN VIENEETGEF
510 520 530 540 550
SIDNYPTDNT KVMIFKSSYS LSDMVSNIEL PTRIHEEVYF EPSSSKDSDE
560 570 580 590 600
NSKPSVDTEG PALVEIDRSV ENTLLNSQMV STDNSLSSQN YISQKEDASE
610 620 630 640 650
FQILKYLFQI DVYDFMNSAF SPIVILTERV VAALPEGMRP DSNLYGFPWE
660 670 680 690 700
LVICAAVVGF FAVLFFLWRS FRSVRSRLYV GREKKLALML SGLIEEKSKL
710 720 730 740 750
LEKFSLVQKE YEGYEVESSL KDASFEKEAT EAQSLEATCE KLNRSNSELE
760 770 780 790 800
DEILCLEKEL KEEKSKHSEQ DELMADISKR IQSLEDESKS LKSQVAEAKM
810 820 830 840 850
TFKIFQMNEE RLKIAIKDAL NENSQLQESQ KQLLQEAEVW KEQVSELNKQ
860 870 880 890 900
KVTFEDSKVH AEQVLNDKES HIKTLTERLL KMKDWAAMLG EDITDDDNLE
910 920 930 940 950
LEMNSESENG AYLDNPPKGA LKKLIHAAKL NASLKTLEGE RNQIYIQLSE
960 970 980 990 1000
VDKTKEELTE HIKNLQTEQA SLQSENTHFE NENQKLQQKL KVMTELYQEN
1010 1020 1030 1040 1050
EMKLHRKLTV EENYRLEKEE KLSKVDEKIS HATEELETYR KRAKDLEEEL
1060 1070 1080 1090 1100
ERTIHSYQGQ IISHEKKAHD NWLAARNAER NLNDLRKENA HNRQKLTETE
1110 1120 1130 1140 1150
LKFELLEKDP YALDVPNTAF GREHSPYGPS PLGWPSSETR AFLSPPTLLE
1160 1170 1180 1190 1200
GPLRLSPLLP GGGGRGSRGP GNPLDHQITN ERGESSCDRL TDPHRAPSDT
1210 1220 1230 1240 1250
GSLSPPWDQD RRMMFPPPGQ SYPDSALPPQ RQDRFCSNSG RLSGPAELRS
1260 1270 1280 1290 1300
FNMPSLDKMD GSMPSEMESS RNDTKDDLGN LNVPDSSLPA ENEATGPGFV
1310 1320 1330 1340 1350
PPPLAPIRGP LFPVDARGPF LRRGPPFPPP PPGAMFGASR DYFPPGDFPG
1360 1370 1380 1390 1400
PPPAPFAMRN VYPPRGFPPY LPPRPGFFPP PPHSEGRSEF PSGLIPPSNE
1410
PATEHPEPQQ ET
Note: Readthrough transcript producing a functional fusion protein MIA2-CTAGE5 with similarity to MIA3.2 Publications
Length:1,412
Mass (Da):159,836
Last modified:September 7, 2016 - v4
Checksum:iE870056BF9D5A0B2
GO
Isoform 2 (identifier: Q96PC5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     631-654: VAALPEGMRPDSNLYGFPWELVIC → SLPFKPFAIILPILLNIRVATKYV
     655-1412: Missing.

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):74,089
Checksum:iD2C7C8DD246107CC
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V599G3V599_HUMAN
Melanoma inhibitory activity protei...
MIA2
1,339Annotation score:
G3V5K6G3V5K6_HUMAN
Melanoma inhibitory activity protei...
MIA2
151Annotation score:
G3V3C4G3V3C4_HUMAN
Melanoma inhibitory activity protei...
MIA2
138Annotation score:
G3V4M1G3V4M1_HUMAN
Melanoma inhibitory activity protei...
MIA2
92Annotation score:

Sequence cautioni

The sequence AAL26990 differs from that shown. Probable cloning artifact.Curated
The sequence BAB15339 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti83Missing in AAL26990 (PubMed:12586826).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036460437D → H in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_058472631 – 654VAALP…ELVIC → SLPFKPFAIILPILLNIRVA TKYV in isoform 2. Add BLAST24
Alternative sequenceiVSP_058473655 – 1412Missing in isoform 2. Add BLAST758

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL132639 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65818.1
BC130537 mRNA Translation: AAI30538.1
BC130563 mRNA Translation: AAI30564.1
AF390175 mRNA Translation: AAL26990.2 Sequence problems.
AK026057 mRNA Translation: BAB15339.1 Different initiation.
CCDSiCCDS86384.1 [Q96PC5-3]
CCDS9672.1 [Q96PC5-2]
RefSeqiNP_001316143.1, NM_001329214.1 [Q96PC5-3]
NP_473365.3, NM_054024.3 [Q96PC5-2]
UniGeneiHs.287694
Hs.509200
Hs.540038
Hs.741763

Genome annotation databases

EnsembliENST00000280082; ENSP00000280082; ENSG00000150527 [Q96PC5-2]
ENST00000640607; ENSP00000491014; ENSG00000150527 [Q96PC5-3]
GeneIDi4253
KEGGihsa:4253
UCSCiuc001wux.4 human [Q96PC5-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL132639 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW65818.1
BC130537 mRNA Translation: AAI30538.1
BC130563 mRNA Translation: AAI30564.1
AF390175 mRNA Translation: AAL26990.2 Sequence problems.
AK026057 mRNA Translation: BAB15339.1 Different initiation.
CCDSiCCDS86384.1 [Q96PC5-3]
CCDS9672.1 [Q96PC5-2]
RefSeqiNP_001316143.1, NM_001329214.1 [Q96PC5-3]
NP_473365.3, NM_054024.3 [Q96PC5-2]
UniGeneiHs.287694
Hs.509200
Hs.540038
Hs.741763

3D structure databases

ProteinModelPortaliQ96PC5
SMRiQ96PC5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125559, 3 interactors
STRINGi9606.ENSP00000280082

PTM databases

iPTMnetiQ96PC5
PhosphoSitePlusiQ96PC5

Polymorphism and mutation databases

BioMutaiMIA2
DMDMi308153584

Proteomic databases

EPDiQ96PC5
PaxDbiQ96PC5
PeptideAtlasiQ96PC5
PRIDEiQ96PC5
ProteomicsDBi77664
77665 [Q96PC5-2]

Protocols and materials databases

DNASUi117153
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280082; ENSP00000280082; ENSG00000150527 [Q96PC5-2]
ENST00000640607; ENSP00000491014; ENSG00000150527 [Q96PC5-3]
GeneIDi4253
KEGGihsa:4253
UCSCiuc001wux.4 human [Q96PC5-3]

Organism-specific databases

CTDi4253
DisGeNETi4253
EuPathDBiHostDB:ENSG00000150526.11
GeneCardsiMIA2
H-InvDBiHIX0202057
HGNCiHGNC:18432 MIA2
HPAiHPA000387
HPA000922
HPA054066
HPA055459
MIMi608001 gene
neXtProtiNX_Q96PC5
OpenTargetsiENSG00000150527
PharmGKBiPA134870998
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF2 Eukaryota
ENOG41118PB LUCA
GeneTreeiENSGT00530000063635
HOGENOMiHOG000220907
HOVERGENiHBG049225
InParanoidiQ96PC5
OMAiLECETLM
OrthoDBiEOG091G0PEA
TreeFamiTF332724

Miscellaneous databases

ChiTaRSiMIA2 human
GeneWikiiMIA2
GenomeRNAii117153
PROiPR:Q96PC5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150526 Expressed in 68 organ(s), highest expression level in intestine
CleanExiHS_MIA2
ExpressionAtlasiQ96PC5 baseline and differential
GenevisibleiQ96PC5 HS

Family and domain databases

CDDicd11892 SH3_MIA2, 1 hit
InterProiView protein in InterPro
IPR035555 MIA2_SH3
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF07653 SH3_2, 1 hit
SUPFAMiSSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMIA2_HUMAN
AccessioniPrimary (citable) accession number: Q96PC5
Secondary accession number(s): A1L4H0, Q9H6C1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: September 7, 2016
Last modified: November 7, 2018
This is version 133 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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