Q5JRA6 (MIA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 78.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Melanoma inhibitory activity protein 3 Alternative name(s): C219-reactive peptide D320 Transport and Golgi organization protein 1 Short name=TANGO1 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1907 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. May participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. Ref.11 |
| Subunit structure | Interacts (via SH3 domain) with COL7A1. Associates with the COPII coat subunits Sec23/Sec24. Ref.11 |
| Subcellular location | Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note: Localizes at endoplasmic reticulum exit sites. After loading of COL7A1 into transport carriers, it is not incorporated into COPII carriers and remains in the endoplasmic reticulum membrane. Ref.11 |
| Tissue specificity | Broadly expressed, except in bone marrow and peripheral blood mononuclear cells. Down-regulated in melanoma tissue. Ref.4 Ref.8 |
| Domain | The proline-rich region (PRD) mediates the interaction with COPII coat subunits Sec23/24. Ref.11 Although 2 transmembrane domains are predicted, Ref.11 showed that it only contains one transmembrane domain. The other predicted transmembrane region is probably a hairpin-type region embedded into the membrane, which does not cross the membrane. It is unclear which of the 2 predicted transmembrane regions is the transmembrane or the hairpin-type region. Ref.11 |
| Sequence similarities | Belongs to the MIA/OTOR family. Tango1 subfamily. Contains 1 SH3 domain. |
| Sequence caution | The sequence BAC04810.1 differs from that shown. Reason: Erroneous initiation. The sequence BAF83024.1 differs from that shown. Reason: Erroneous initiation. The sequence CAI40474.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| COL7A1 | Q02388 | 2 | EBI-2291868,EBI-724237 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5JRA6-1) 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. | ||||||
| Isoform 2 (identifier: Q5JRA6-2) The sequence of this isoform differs from the canonical sequence as follows: 1304-1362: Missing. | ||||||
| Isoform 3 (identifier: Q5JRA6-3) The sequence of this isoform differs from the canonical sequence as follows: 493-500: MTVHSSVH → FKTEPIKL 501-1907: Missing. | ||||||
| Isoform 4 (identifier: Q5JRA6-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1122: Missing. 1123-1159: IDANKQPETAAEEPASVTPLENAILLIYSFMFYLTKS → MDSVPATVPSIAATPGDPELVGPLSVLYAAFIAKLLE |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Potential | ||||||
| Chain | 23 – 1907 | 1885 | Melanoma inhibitory activity protein 3 | PRO_0000288998 | |||||
Regions | |||||||||
| Topological domain | 23 – 1144 | 1122 | Extracellular Potential | ||||||
| Intramembrane | 1145 – 1165 | 21 | Potential | ||||||
| Topological domain | 1166 – 1176 | 11 | Extracellular Potential | ||||||
| Transmembrane | 1177 – 1197 | 21 | Helical; Potential | ||||||
| Topological domain | 1198 – 1907 | 710 | Cytoplasmic Potential | ||||||
| Domain | 45 – 107 | 63 | SH3 | ||||||
| Coiled coil | 471 – 531 | 61 | Potential | ||||||
| Coiled coil | 1214 – 1396 | 183 | Potential | ||||||
| Coiled coil | 1487 – 1639 | 153 | Potential | ||||||
| Compositional bias | 1640 – 1890 | 251 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 382 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1727 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1739 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1740 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1745 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 1892 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1906 | 1 | Phosphoserine Ref.9 | ||||||
| Glycosylation | 246 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 589 | 1 | N-linked (GlcNAc...) Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1122 | 1122 | Missing in isoform 4. | VSP_025860 | |||||
| Alternative sequence | 493 – 500 | 8 | MTVHSSVH → FKTEPIKL in isoform 3. | VSP_025861 | |||||
| Alternative sequence | 501 – 1907 | 1407 | Missing in isoform 3. | VSP_025862 | |||||
| Alternative sequence | 1123 – 1159 | 37 | IDANK…YLTKS → MDSVPATVPSIAATPGDPEL VGPLSVLYAAFIAKLLE in isoform 4. | VSP_025863 | |||||
| Alternative sequence | 1304 – 1362 | 59 | Missing in isoform 2. | VSP_025864 | |||||
| Natural variant | 482 | 1 | K → E. Ref.1 Corresponds to variant rs2936053 [ dbSNP | Ensembl ]. | VAR_032546 | |||||
| Natural variant | 605 | 1 | K → R. Corresponds to variant rs2936052 [ dbSNP | Ensembl ]. | VAR_032547 | |||||
| Natural variant | 881 | 1 | E → G. Ref.5 Corresponds to variant rs2936051 [ dbSNP | Ensembl ]. | VAR_032548 | |||||
| Natural variant | 1659 | 1 | G → C. Ref.7 Corresponds to variant rs17857325 [ dbSNP | Ensembl ]. | VAR_032549 | |||||
| Natural variant | 1723 | 1 | K → E. Ref.7 Corresponds to variant rs17854428 [ dbSNP | Ensembl ]. | VAR_032550 | |||||
Experimental info | |||||||||
| Sequence conflict | 46 | 1 | Missing in AAQ89449. Ref.1 | ||||||
| Sequence conflict | 1032 | 1 | H → R in BAC04810. Ref.2 | ||||||
| Sequence conflict | 1443 | 1 | R → Q in AAH47116. Ref.7 | ||||||
| Sequence conflict | 1754 | 1 | K → R in BAH12416. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLU-482. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 419-1492 (ISOFORM 2). Tissue: Brain and Tongue. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Characterization and expression pattern of the novel MIA homolog TANGO." Bosserhoff A.K., Moser M., Buettner R. Gene Expr. Patterns 4:473-479(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-125, TISSUE SPECIFICITY. |
| [5] | "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 715-1907 (ISOFORM 1), VARIANT GLY-881. Tissue: Bone marrow. |
| [6] | "Analysis of a novel cDNA encoding a C219-reactive peptide isolated from methotrexate-selected multidrug-resistant human leukemic cells." Norris M.D., Gilbert J., Madafiglio J., Haber M. Gene 156:313-314(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1306-1441. Tissue: Leukemia. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1441-1907 (ISOFORM 1), VARIANTS CYS-1659 AND GLU-1723. Tissue: Brain. |
| [8] | "TANGO is a tumor suppressor of malignant melanoma." Arndt S., Bosserhoff A.K. Int. J. Cancer 119:2812-2820(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1906, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Liver. |
| [11] | "TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites." Saito K., Chen M., Bard F., Chen S., Zhou H., Woodley D., Polischuk R., Schekman R., Malhotra V. Cell 136:891-902(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH COL7A1, TOPOLOGY, DOMAIN. |
| [12] | "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-589, MASS SPECTROMETRY. Tissue: Liver. |
| [13] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1745, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY359091 mRNA. Translation: AAQ89449.1. AK096526 mRNA. Translation: BAC04810.1. Different initiation. AK290335 mRNA. Translation: BAF83024.1. Different initiation. AK296712 mRNA. Translation: BAH12416.1. AL592148 Genomic DNA. Translation: CAI40469.1. AL592148 Genomic DNA. Translation: CAI40470.1. AL592148 Genomic DNA. Translation: CAI40471.1. AL592148 Genomic DNA. Translation: CAI40473.1. AL592148 Genomic DNA. Translation: CAI40474.1. Sequence problems. D87742 mRNA. Translation: BAA13448.1. L34688 mRNA. Translation: AAB00324.1. DQ166034 mRNA. Translation: AAZ95512.1. BC047116 mRNA. Translation: AAH47116.2. |
| IPI | IPI00455473. IPI00655578. IPI00739902. IPI00741107. |
| RefSeq | NP_940953.2. NM_198551.2. |
| UniGene | Hs.118474. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1HJD based on UniProtKB Q16674. |
| ProteinModelPortal | Q5JRA6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q5JRA6. 3 interactions. |
PTM databases | |
| PhosphoSite | Q5JRA6. |
Polymorphism databases | |
| DMDM | 74741823. |
Proteomic databases | |
| PaxDb | Q5JRA6. |
| PRIDE | Q5JRA6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000340535; ENSP00000345866; ENSG00000154305. ENST00000344507; ENSP00000341348; ENSG00000154305. ENST00000344922; ENSP00000340900; ENSG00000154305. |
| GeneID | 375056. |
| KEGG | hsa:375056. |
| UCSC | uc001hnl.3. human. uc001hnm.3. human. uc009xea.1. human. |
Organism-specific databases | |
| CTD | 375056. |
| GeneCards | GC01P222791. |
| H-InvDB | HIX0001613. |
| HGNC | HGNC:24008. MIA3. |
| MIM | 613455. gene. |
| neXtProt | NX_Q5JRA6. |
| PharmGKB | PA143485536. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG133684. |
| HOVERGEN | HBG108133. |
| InParanoid | Q5JRA6. |
| OMA | VALTHKD. |
| OrthoDB | EOG4JM7PQ. |
Gene expression databases | |
| ArrayExpress | Q5JRA6. |
| Bgee | Q5JRA6. |
| CleanEx | HS_MIA3. |
| Genevestigator | Q5JRA6. |
Family and domain databases | |
| InterPro | IPR011511. SH3_2. IPR001452. SH3_domain. [Graphical view] |
| Pfam | PF07653. SH3_2. 1 hit. [Graphical view] |
| SMART | SM00326. SH3. 1 hit. [Graphical view] |
| SUPFAM | SSF50044. SH3. 1 hit. |
| PROSITE | PS50002. SH3. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MIA3. human. |
| GenomeRNAi | 375056. |
| NextBio | 100389. |
| PMAP-CutDB | Q5JRA6. |
| SOURCE | Search... |
Entry information
| Entry name | MIA3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5JRA6 Secondary accession number(s): A8K2S0 Q92580 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
