Q9GZY8 (MFF_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 75.
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: Mitochondrial fission factor | ||||||
| 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 | 342 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role in mitochondrial and peroxisomal fission. Ref.1 |
| Subcellular location | Mitochondrion outer membrane; Single-pass type IV membrane protein Ref.1. |
| Tissue specificity | Highly expressed in heart, kidney, liver, brain, muscle, and stomach. Ref.1 |
| Sequence similarities | Belongs to the tango11 family. |
Ontologies
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9GZY8-1) 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: Q9GZY8-2) The sequence of this isoform differs from the canonical sequence as follows: 1-26: Missing. 174-198: Missing. | ||||||
| Note: Contains a phosphothreonine at position 149. Contains a phosphoserine at position 151. | ||||||
| Isoform 3 (identifier: Q9GZY8-3) The sequence of this isoform differs from the canonical sequence as follows: 1-26: Missing. 199-271: Missing. | ||||||
| Isoform 4 (identifier: Q9GZY8-4) The sequence of this isoform differs from the canonical sequence as follows: 1-26: Missing. 174-271: Missing. | ||||||
| Isoform 5 (identifier: Q9GZY8-5) The sequence of this isoform differs from the canonical sequence as follows: 1-26: Missing. 174-251: Missing. | ||||||
| Note: Contains a phosphoserine at position 146. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 342 | 342 | Mitochondrial fission factor | PRO_0000289184 | |||||
Regions | |||||||||
| Topological domain | 1 – 322 | 322 | Cytoplasmic Potential | ||||||
| Transmembrane | 323 – 340 | 18 | Helical; Anchor for type IV membrane protein; Potential | ||||||
| Topological domain | 341 – 342 | 2 | Mitochondrial intermembrane Potential | ||||||
| Coiled coil | 291 – 322 | 32 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 115 | 1 | Phosphothreonine Ref.12 | ||||||
| Modified residue | 155 | 1 | Phosphoserine Ref.8 Ref.12 Ref.14 | ||||||
| Modified residue | 157 | 1 | Phosphoserine Ref.8 Ref.12 Ref.14 | ||||||
| Modified residue | 172 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 200 | 1 | Phosphothreonine Ref.12 | ||||||
| Modified residue | 202 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 229 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 233 | 1 | Phosphoserine Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 26 | 26 | Missing in isoform 2, isoform 3, isoform 4 and isoform 5. | VSP_025954 | |||||
| Alternative sequence | 174 – 271 | 98 | Missing in isoform 4. | VSP_025955 | |||||
| Alternative sequence | 174 – 251 | 78 | Missing in isoform 5. | VSP_025956 | |||||
| Alternative sequence | 174 – 198 | 25 | Missing in isoform 2. | VSP_025957 | |||||
| Alternative sequence | 199 – 271 | 73 | Missing in isoform 3. | VSP_025958 | |||||
| Natural variant | 7 | 1 | S → C. Corresponds to variant rs3211097 [ dbSNP | Ensembl ]. | VAR_053915 | |||||
| Natural variant | 7 | 1 | S → I. Corresponds to variant rs3211098 [ dbSNP | Ensembl ]. | VAR_053916 | |||||
| Natural variant | 29 | 1 | E → K in a colorectal cancer sample; somatic mutation. Ref.15 | VAR_036028 | |||||
Experimental info | |||||||||
| Sequence conflict | 212 | 1 | H → Y in CAH56328. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The novel tail-anchored membrane protein Mff controls mitochondrial and peroxisomal fission in mammalian cells." Gandre-Babbe S., van der Bliek A.M. Mol. Biol. Cell 19:2402-2412(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, TISSUE SPECIFICITY. |
| [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 2). |
| [3] | "A novel gene expressed in human liver non-tumor tissues." Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z. Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Liver. |
| [4] | Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z. Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Adrenal gland. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORMS 3 AND 5). Tissue: Placenta. |
| [7] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-342. Tissue: Stomach. |
| [8] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-155 AND SER-157, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| [10] | "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 THR-149 AND SER-151 (ISOFORM 2), MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [12] | "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-115; SER-155; SER-157; THR-200; SER-202; SER-229 AND SER-233, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-149 AND SER-151 (ISOFORM 2), PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-146 (ISOFORM 5), MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "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]. |
| [14] | "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-155 AND SER-157, MASS SPECTROMETRY. |
| [15] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-29. |
| + | Additional computationally mapped references. |
Cross-references
Entry information
| Entry name | MFF_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9GZY8 Secondary accession number(s): Q567U1 Q9NRG8 | ||||||||
| 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 2 Human chromosome 2: 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
