Q8NA29 (MFS2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 79.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Major facilitator superfamily domain-containing protein 2A | ||||||
| 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 | 543 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role in thermogenesis via beta-adrenergic signaling pathway. May be the main plasma membrane tunicamycin transporter. Ref.10 |
| Subcellular location | Cell membrane; Multi-pass membrane protein Potential. Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein Potential. Note: Cytoplasmic punctae that may represent vesicles shuttling between the endoplasmic reticulum and the plasma membrane. Ref.10 |
| Post-translational modification | N-glycosylated. Ref.10 |
| Sequence similarities | Belongs to the major facilitator superfamily. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Cell membrane Endoplasmic reticulum Membrane |
| Coding sequence diversity | Alternative splicing |
| Domain | Transmembrane Transmembrane helix |
| PTM | Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | transport Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NA29-1) 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: Q8NA29-2) The sequence of this isoform differs from the canonical sequence as follows: 77-89: Missing. | ||||||
| Isoform 3 (identifier: Q8NA29-3) The sequence of this isoform differs from the canonical sequence as follows: 1-186: MAKGEGAESG...PYSALTMFIS → MWLRWALSLP...PTRLSPCSSA | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 543 | 543 | Major facilitator superfamily domain-containing protein 2A | PRO_0000273387 | |||||
Regions | |||||||||
| Transmembrane | 47 – 67 | 21 | Helical; Potential | ||||||
| Transmembrane | 81 – 101 | 21 | Helical; Potential | ||||||
| Transmembrane | 129 – 149 | 21 | Helical; Potential | ||||||
| Transmembrane | 161 – 181 | 21 | Helical; Potential | ||||||
| Transmembrane | 257 – 277 | 21 | Helical; Potential | ||||||
| Transmembrane | 311 – 331 | 21 | Helical; Potential | ||||||
| Transmembrane | 345 – 365 | 21 | Helical; Potential | ||||||
| Transmembrane | 371 – 391 | 21 | Helical; Potential | ||||||
| Transmembrane | 394 – 414 | 21 | Helical; Potential | ||||||
| Transmembrane | 438 – 458 | 21 | Helical; Potential | ||||||
| Transmembrane | 481 – 501 | 21 | Helical; Potential | ||||||
| Compositional bias | 35 – 38 | 4 | Poly-Lys | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 230 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 240 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 186 | 186 | MAKGE…TMFIS → MWLRWALSLPPSSCLWAEPG MPSQTPWWASASANPPGPAW VALCPGSSSPRPWPSLPTSS SGSCPTSHTARPIGTCFSIA SLKQWSRVSMFPTRLSPCSS A in isoform 3. | VSP_022540 | |||||
| Alternative sequence | 77 – 89 | 13 | Missing in isoform 2. | VSP_022539 | |||||
Experimental info | |||||||||
| Mutagenesis | 103 | 1 | R → A: No effect on cell sensitivity toward tunicamycin. Ref.10 | ||||||
| Mutagenesis | 106 | 1 | D → A: No effect on cell sensitivity toward tunicamycin. Ref.10 | ||||||
| Mutagenesis | 110 | 1 | D → A: Drastic loss of cell sensitivity toward tunicamycin. Ref.10 | ||||||
| Mutagenesis | 230 | 1 | N → Q: Loss of glycosylation; when associated with Q-240. Ref.10 | ||||||
| Mutagenesis | 240 | 1 | N → Q: Loss of glycosylation; when associated with Q-230. Ref.10 | ||||||
| Mutagenesis | 449 | 1 | K → A: Loss of plasma membrane localization. Loss of cell sensitivity toward tunicamycin. Ref.10 | ||||||
| Sequence conflict | 229 | 1 | L → F in AAQ88999. Ref.1 | ||||||
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). |
| [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] (ISOFORMS 1 AND 2). Tissue: Placenta and Testis. |
| [3] | "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas." Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A. Oncogene 23:5901-5911(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Hepatoblastoma. |
| [4] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [5] | "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. Isogai T.DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [6] | "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]. |
| [7] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "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] (ISOFORM 2). Tissue: Eye, Muscle and Testis. |
| [9] | "Mfsd2a encodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis." Angers M., Uldry M., Kong D., Gimble J.M., Jetten A.M. Biochem. J. 416:347-355(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION. |
| [10] | "A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin." Reiling J.H., Clish C.B., Carette J.E., Varadarajan M., Brummelkamp T.R., Sabatini D.M. Proc. Natl. Acad. Sci. U.S.A. 108:11756-11765(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, GLYCOSYLATION, MUTAGENESIS OF ARG-103; ASP-106; ASP-110; ASN-230; ASN-240 AND LYS-449. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY358636 mRNA. Translation: AAQ88999.1. AK093223 mRNA. Translation: BAC04100.1. AB073383 mRNA. Translation: BAD38634.1. AF289609 mRNA. Translation: AAL55793.1. AK075183 mRNA. Translation: BAC11456.1. AK291540 mRNA. Translation: BAF84229.1. AL663070 Genomic DNA. Translation: CAI20268.1. AL663070 Genomic DNA. Translation: CAI20269.1. CH471059 Genomic DNA. Translation: EAX07248.1. BC006353 mRNA. Translation: AAH06353.2. BC011587 mRNA. Translation: AAH11587.1. BC092414 mRNA. Translation: AAH92414.1. |
| IPI | IPI00410391. IPI00647701. IPI00827704. |
| RefSeq | NP_001129965.1. NM_001136493.1. NP_116182.2. NM_032793.3. |
| UniGene | Hs.655177. |
3D structure databases | |
| ProteinModelPortal | Q8NA29. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-47306N. |
| STRING | 9606.ENSP00000361895. |
Protein family/group databases | |
| TCDB | 2.A.2.3.8. glycoside-pentoside-hexuronide (GPH):cation symporter family. |
PTM databases | |
| PhosphoSite | Q8NA29. |
Polymorphism databases | |
| DMDM | 74751132. |
Proteomic databases | |
| PaxDb | Q8NA29. |
| PRIDE | Q8NA29. |
Protocols and materials databases | |
| DNASU | 84879. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000372809; ENSP00000361895; ENSG00000168389. ENST00000372811; ENSP00000361898; ENSG00000168389. |
| GeneID | 84879. |
| KEGG | hsa:84879. |
| UCSC | uc001ceu.3. human. uc001cev.3. human. |
Organism-specific databases | |
| CTD | 84879. |
| GeneCards | GC01P040421. |
| HGNC | HGNC:25897. MFSD2A. |
| HPA | HPA043107. |
| MIM | 614397. gene. |
| neXtProt | NX_Q8NA29. |
| PharmGKB | PA165751549. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2211. |
| HOGENOM | HOG000294186. |
| HOVERGEN | HBG080097. |
| InParanoid | Q8NA29. |
| OMA | VAQVDPF. |
| OrthoDB | EOG49S66D. |
| PhylomeDB | Q8NA29. |
Gene expression databases | |
| ArrayExpress | Q8NA29. |
| Bgee | Q8NA29. |
| CleanEx | HS_MFSD2. |
| Genevestigator | Q8NA29. |
Family and domain databases | |
| InterPro | IPR016196. MFS_dom_general_subst_transpt. [Graphical view] |
| SUPFAM | SSF103473. MFS_gen_substrate_transporter. 1 hit. |
| PROSITE | PS50850. MFS. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | mfsd2a. human. |
| GenomeRNAi | 84879. |
| NextBio | 75189. |
| SOURCE | Search... |
Entry information
| Entry name | MFS2A_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NA29 Secondary accession number(s): A8K675 Q9BRC8 | ||||||||
| 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 |
| 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
