Reviewed,
UniProtKB/Swiss-Prot Q14CX7 (MDM20_HUMAN)
Last modified
January 19, 2010.
Version 35.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: N-terminal acetyltransferase B complex subunit MDM20 Short name=NatB complex subunit MDM20 Alternative name(s): Mitochondrial distribution and morphology protein 20 p120 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 972 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Non-catalytic subunit of the NatB complex which catalyzes acetylation of the N-terminal methionine residues of peptides beginning with Met-Asp-Glu. May play a role in normal cell-cycle progression. Ref.6 |
| Subunit structure | Component of the N-terminal acetyltransferase B (NatB) complex, which is composed of NAT5 and MDM20. |
| Subcellular location | |
| Sequence similarities | Belongs to the MDM20 family. Contains 4 TPR repeats. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat TPR repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q14CX7-1) 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: Q14CX7-2) The sequence of this isoform differs from the canonical sequence as follows: 847-859: TISVILWVSSYCE → VSFCSLPKRHCCS 860-972: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 972 | 972 | N-terminal acetyltransferase B complex subunit MDM20 | PRO_0000294337 | |||||
Regions | |||||||||
| Repeat | 11 – 44 | 34 | TPR 1 | ||||||
| Repeat | 45 – 78 | 34 | TPR 2 | ||||||
| Repeat | 79 – 112 | 34 | TPR 3 | ||||||
| Repeat | 114 – 146 | 33 | TPR 4 | ||||||
| Compositional bias | 871 – 877 | 7 | Poly-Lys | ||||||
Amino acid modifications | |||||||||
| Modified residue | 691 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 847 – 859 | 13 | TISVI…SSYCE → VSFCSLPKRHCCS in isoform 2. | VSP_026629 | |||||
| Alternative sequence | 860 – 972 | 113 | Missing in isoform 2. | VSP_026630 | |||||
| Natural variant | 426 | 1 | L → F: dbSNP rs16941860. | VAR_054099 | |||||
| Natural variant | 789 | 1 | S → R in a breast cancer sample; somatic mutation. Ref.7 | VAR_035872 | |||||
| Natural variant | 876 | 1 | K → R: dbSNP rs12231744. | VAR_033156 | |||||
| Natural variant | 915 | 1 | L → I: dbSNP rs12298022. | VAR_054100 | |||||
Experimental info | |||||||||
| Sequence conflict | 202 | 1 | I → T in BAB14432. Ref.4 | ||||||
| Sequence conflict | 466 | 1 | Y → S in BAB14432. Ref.4 | ||||||
| Sequence conflict | 672 | 1 | S → T in BAB14432. Ref.4 | ||||||
| Sequence conflict | 817 | 1 | S → G in CAE46062. Ref.2 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "P120 which associates with nascent polypeptide chain." Hotokezaka H., Wiedmann M. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "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: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Uterine endothelium. |
| [3] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye. |
| [4] | "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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-972. |
| [5] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [6] | "Identification of the human N(alpha)-acetyltransferase complex B (hNatB): a complex important for cell-cycle progression." Starheim K.K., Arnesen T., Gromyko D., Ryningen A., Varhaug J.E., Lillehaug J.R. Biochem. J. 415:325-331(2008) [PubMed: 18570629] [Abstract] Cited for: FUNCTION, INTERACTION WITH NAT5, SUBCELLULAR LOCATION. |
| [7] | "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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-789. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB054990 mRNA. Translation: BAC80174.1. BX641140 mRNA. Translation: CAE46062.1. Different initiation. BC034357 mRNA. Translation: AAH34357.1. BC113585 mRNA. Translation: AAI13586.1. BC113587 mRNA. Translation: AAI13588.1. AK023151 mRNA. Translation: BAB14432.1. Different initiation. |
| IPI | IPI00025890. IPI00852843. |
| RefSeq | NP_079229.2. |
| UniGene | Hs.530941 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q14CX7. 1 interaction. |
| STRING | Q14CX7. |
Proteomic databases | |
| PRIDE | Q14CX7. |
Genome annotation databases | |
| Ensembl | ENST00000261745; ENSP00000261745; ENSG00000111300; Homo sapiens. [Genome view] |
| GeneID | 80018. |
| KEGG | hsa:80018. |
| UCSC | uc001ttm.1. human. uc009zvz.1. human. |
Organism-specific databases | |
| CTD | 80018. |
| GeneCards | GC12M110948. |
| HGNC | HGNC:25783. C12orf30. |
| MIM | 612755. gene. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG09198. |
| HOVERGEN | Q14CX7. |
| InParanoid | Q14CX7. |
| OMA | DTIGYLL. |
| OrthoDB | EOG97M4HW. |
| PhylomeDB | Q14CX7. |
Gene expression databases | |
| ArrayExpress | Q14CX7. |
| Bgee | Q14CX7. |
| CleanEx | HS_C12orf30. |
| Genevestigator | Q14CX7. |
Family and domain databases | |
| InterPro | IPR019183. N-acetylTrfase_B_cplx_non-cat. IPR013026. TPR-contain. IPR011990. TPR-like_helical. [Graphical view] |
| Gene3D | G3DSA:1.25.40.10. TPR-like_helical. 1 hit. |
| Pfam | PF09797. NatB_MDM20. 1 hit. [Graphical view] |
| PROSITE | PS50005. TPR. False negative. PS50293. TPR_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 70134. |
| SOURCE | Search... |
Entry information
| Entry name | MDM20_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q14CX7 Secondary accession number(s): A0JLU7 Q9H911 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 12 Human chromosome 12: 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


