Q8NDQ6 (ZN540_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 90.
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: Zinc finger protein 540 | ||||
| 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 | 660 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May act as a transcriptional repressor. Ref.5 |
| Subunit structure | May interact with MVP. |
| Subcellular location | |
| Tissue specificity | Expressed in several fetal tissues, including gut, heart, brain, muscle, lung, testis and liver. Ref.5 |
| Sequence similarities | Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 17 C2H2-type zinc fingers. Contains 1 KRAB domain. |
| Sequence caution | The sequence AAH17940.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence CAD97942.1 differs from that shown. Reason: Frameshift at position 580. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Zinc-finger |
| Ligand | DNA-binding Metal-binding Zinc |
| Molecular function | Repressor |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | negative regulation of transcription, DNA-dependent Inferred from direct assay Ref.5. Source: UniProtKB transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | cytoplasm Inferred from direct assay Ref.5. Source: UniProtKB nucleusInferred from direct assay Ref.5. Source: UniProtKB |
| Molecular_function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW translation repressor activity, nucleic acid bindingInferred from mutant phenotype Ref.5. Source: UniProtKB zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NDQ6-1) 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: Q8NDQ6-2) The sequence of this isoform differs from the canonical sequence as follows: 46-77: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8NDQ6-4) The sequence of this isoform differs from the canonical sequence as follows: 1-77: MAHALVTFRD...ARDVTGRQCP → MLPNFKLYNF...NFCLLLCFLS | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 660 | 660 | Zinc finger protein 540 | PRO_0000047641 | |||||
Regions | |||||||||
| Domain | 6 – 77 | 72 | KRAB | ||||||
| Zinc finger | 187 – 209 | 23 | C2H2-type 1 | ||||||
| Zinc finger | 215 – 237 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 243 – 265 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 271 – 293 | 23 | C2H2-type 4 | ||||||
| Zinc finger | 299 – 321 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 327 – 349 | 23 | C2H2-type 6 | ||||||
| Zinc finger | 355 – 377 | 23 | C2H2-type 7 | ||||||
| Zinc finger | 383 – 405 | 23 | C2H2-type 8 | ||||||
| Zinc finger | 411 – 433 | 23 | C2H2-type 9 | ||||||
| Zinc finger | 439 – 461 | 23 | C2H2-type 10 | ||||||
| Zinc finger | 467 – 489 | 23 | C2H2-type 11 | ||||||
| Zinc finger | 495 – 517 | 23 | C2H2-type 12 | ||||||
| Zinc finger | 523 – 545 | 23 | C2H2-type 13 | ||||||
| Zinc finger | 551 – 573 | 23 | C2H2-type 14 | ||||||
| Zinc finger | 579 – 601 | 23 | C2H2-type 15 | ||||||
| Zinc finger | 607 – 629 | 23 | C2H2-type 16 | ||||||
| Zinc finger | 635 – 657 | 23 | C2H2-type 17 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 77 | 77 | MAHAL…GRQCP → MLPNFKLYNFIEIFFKPLTP SKNRFHFVSYFENVNFMLCW LQENNFCLLLCFLS in isoform 4. | VSP_016036 | |||||
| Alternative sequence | 46 – 77 | 32 | Missing in isoform 2. | VSP_016037 | |||||
| Natural variant | 53 | 1 | D → V. Ref.1 Corresponds to variant rs1975937 [ dbSNP | Ensembl ]. | VAR_033575 | |||||
| Natural variant | 275 | 1 | K → I in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035586 | |||||
Experimental info | |||||||||
| Sequence conflict | 127 | 1 | E → G in CAD97942. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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 4), VARIANT VAL-53. Tissue: Hippocampus. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain and Heart. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [4] | "Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma." Ohira M., Morohashi A., Nakamura Y., Isogai E., Furuya K., Hamano S., Machida T., Aoyama M., Fukumura M., Miyazaki K., Suzuki Y., Sugano S., Hirato J., Nakagawara A. Cancer Lett. 197:63-68(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 318-660. Tissue: Neuroblastoma. |
| [5] | "A novel human zinc finger protein ZNF540 interacts with MVP and inhibits transcriptional activities of the ERK signal pathway." Xiang Z., Yuan W., Luo N., Wang Y., Tan K., Deng Y., Zhou X., Zhu C., Li Y., Liu M., Wu X., Li Y. Biochem. Biophys. Res. Commun. 347:288-296(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH MVP, TISSUE SPECIFICITY. |
| [6] | "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] ILE-275. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK131388 mRNA. Translation: BAD18539.1. AK290486 mRNA. Translation: BAF83175.1. AL832100 mRNA. Translation: CAD91161.1. AL832315 mRNA. Translation: CAD38611.1. BX537980 mRNA. Translation: CAD97942.1. Frameshift. BC017940 mRNA. Translation: AAH17940.1. Sequence problems. BC126478 mRNA. Translation: AAI26479.1. BC126480 mRNA. Translation: AAI26481.1. AB074186 mRNA. Translation: BAE45743.1. |
| IPI | IPI00168568. IPI00383994. IPI00442104. |
| RefSeq | NP_001165696.1. NM_001172225.2. NP_001165697.1. NM_001172226.2. NP_689819.1. NM_152606.4. |
| UniGene | Hs.728927. |
3D structure databases | |
| ProteinModelPortal | Q8NDQ6. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8NDQ6. |
Polymorphism databases | |
| DMDM | 74762556. |
Proteomic databases | |
| PaxDb | Q8NDQ6. |
| PRIDE | Q8NDQ6. |
Protocols and materials databases | |
| DNASU | 163255. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000316433; ENSP00000324598; ENSG00000171817. ENST00000343599; ENSP00000343768; ENSG00000171817. ENST00000589117; ENSP00000467118; ENSG00000171817. ENST00000592533; ENSP00000466274; ENSG00000171817. |
| GeneID | 163255. |
| KEGG | hsa:163255. |
| UCSC | uc002ogq.3. human. uc010efq.3. human. |
Organism-specific databases | |
| CTD | 163255. |
| GeneCards | GC19P038086. |
| HGNC | HGNC:25331. ZNF540. |
| HPA | HPA003444. |
| MIM | 613903. gene. |
| neXtProt | NX_Q8NDQ6. |
| PharmGKB | PA134980975. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5048. |
| HOVERGEN | HBG018163. |
| InParanoid | Q8NDQ6. |
| KO | K09228. |
| OMA | SFYLTEH. |
| OrthoDB | EOG4HHP1T. |
| PhylomeDB | Q8NDQ6. |
Enzyme and pathway databases | |
| Reactome | REACT_71. Gene Expression. |
Gene expression databases | |
| Bgee | Q8NDQ6. |
| CleanEx | HS_ZNF540. |
| Genevestigator | Q8NDQ6. |
| GermOnline | ENSG00000171817. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.160.60. 17 hits. |
| InterPro | IPR001909. Krueppel-associated_box. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] |
| Pfam | PF01352. KRAB. 1 hit. [Graphical view] |
| SMART | SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 17 hits. [Graphical view] |
| SUPFAM | SSF109640. Krueppel-associated_box. 1 hit. |
| PROSITE | PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 17 hits. PS50157. ZINC_FINGER_C2H2_2. 17 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 163255. |
| NextBio | 88343. |
| SOURCE | Search... |
Entry information
| Entry name | ZN540_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NDQ6 Secondary accession number(s): A0AVS5 Q86T31 | ||||||||
| 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 19 Human chromosome 19: 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
