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Protein

Melanoma inhibitory activity protein 2

Gene

MIA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 homoestasis (By similarity).By similarity1 Publication

GO - Molecular functioni

  • lipoprotein transporter activity Source: UniProtKB

GO - Biological processi

  • cargo loading into vesicle Source: UniProtKB
  • cholesterol homeostasis Source: Ensembl
  • ER to Golgi vesicle-mediated transport Source: UniProtKB
  • lipoprotein transport Source: UniProtKB
  • triglyceride homeostasis Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165351-MONOMER.

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

HGNCiHGNC:18432. MIA2.

Subcellular locationi

Isoform 1 :

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi117153.
OpenTargetsiENSG00000150526.
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...)Sequence analysis1
Glycosylationi368N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ96PC5.
PaxDbiQ96PC5.
PeptideAtlasiQ96PC5.
PRIDEiQ96PC5.

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.
CleanExiHS_MIA2.
ExpressionAtlasiQ96PC5. baseline and differential.
GenevisibleiQ96PC5. HS.

Organism-specific databases

HPAiHPA054066.
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. 2 interactors.
MINTiMINT-4718523.
STRINGi9606.ENSP00000280082.

Structurei

3D structure databases

ProteinModelPortaliQ96PC5.
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
Contains 1 SH3 domain.Curated

Keywords - Domaini

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

Phylogenomic databases

eggNOGiENOG410IIF2. Eukaryota.
ENOG41118PB. LUCA.
GeneTreeiENSGT00390000010535.
HOGENOMiHOG000220907.
HOVERGENiHBG049225.
InParanoidiQ96PC5.
OMAiGDLECEX.
OrthoDBiEOG091G0PEA.
TreeFamiTF332724.

Family and domain databases

InterProiIPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF07653. SH3_2. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 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

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

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.
CCDSiCCDS9672.1. [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; ENSG00000150526. [Q96PC5-2]
GeneIDi4253.
KEGGihsa:117153.
UCSCiuc001wux.4. human. [Q96PC5-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS9672.1. [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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125559. 2 interactors.
MINTiMINT-4718523.
STRINGi9606.ENSP00000280082.

PTM databases

iPTMnetiQ96PC5.
PhosphoSitePlusiQ96PC5.

Polymorphism and mutation databases

BioMutaiMIA2.
DMDMi308153584.

Proteomic databases

MaxQBiQ96PC5.
PaxDbiQ96PC5.
PeptideAtlasiQ96PC5.
PRIDEiQ96PC5.

Protocols and materials databases

DNASUi117153.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280082; ENSP00000280082; ENSG00000150526. [Q96PC5-2]
GeneIDi4253.
KEGGihsa:117153.
UCSCiuc001wux.4. human. [Q96PC5-3]

Organism-specific databases

CTDi117153.
DisGeNETi117153.
GeneCardsiMIA2.
H-InvDBHIX0202057.
HGNCiHGNC:18432. MIA2.
HPAiHPA054066.
HPA055459.
MIMi608001. gene.
neXtProtiNX_Q96PC5.
OpenTargetsiENSG00000150526.
PharmGKBiPA134870998.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIF2. Eukaryota.
ENOG41118PB. LUCA.
GeneTreeiENSGT00390000010535.
HOGENOMiHOG000220907.
HOVERGENiHBG049225.
InParanoidiQ96PC5.
OMAiGDLECEX.
OrthoDBiEOG091G0PEA.
TreeFamiTF332724.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165351-MONOMER.

Miscellaneous databases

GeneWikiiMIA2.
GenomeRNAii117153.
PROiQ96PC5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150526.
CleanExiHS_MIA2.
ExpressionAtlasiQ96PC5. baseline and differential.
GenevisibleiQ96PC5. HS.

Family and domain databases

InterProiIPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF07653. SH3_2. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMIA2_HUMAN
AccessioniPrimary (citable) accession number: Q96PC5
Secondary accession number(s): A1L4H0, Q9H6C1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: September 7, 2016
Last modified: November 30, 2016
This is version 117 of the entry and version 4 of the sequence. [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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.