Q96SR6 (ZN382_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 104.
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 382 Alternative name(s): KRAB/zinc finger suppressor protein 1 Short name=KS1 Multiple zinc finger and krueppel-associated box protein KS1 | ||
| Gene names |
| ||
| 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 | 550 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Functions as a sequence-specific transcriptional repressor By similarity. |
| Subunit structure | Interacts with TRIM28; enhances the transcriptional repressor activity By similarity. |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Specifically expressed in heart with a weaker expression also detected in skeletal muscle. Ref.1 |
| Developmental stage | Primarily detected in 34 day-old embryos. Widely expressed at different levels during embryonic development where it is predominantly expressed in cerebellum, kidney, and cerebrum and to a lesser extent in lung, heart, skeletal muscle, tongue, and adrenal gland. Ref.1 |
| Sequence similarities | Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 10 C2H2-type zinc fingers. Contains 1 KRAB domain. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | 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 electronic annotation. Source: Compara transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW 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: Q96SR6-1) 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: Q96SR6-2) The sequence of this isoform differs from the canonical sequence as follows: 1-3: MPL → MS | ||||||
| Isoform 3 (identifier: Q96SR6-3) The sequence of this isoform differs from the canonical sequence as follows: 78-78: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 550 | 550 | Zinc finger protein 382 | PRO_0000047549 | |||||
Regions | |||||||||
| Domain | 7 – 78 | 72 | KRAB | ||||||
| Zinc finger | 212 – 234 | 23 | C2H2-type 1; degenerate | ||||||
| Zinc finger | 296 – 318 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 324 – 346 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 352 – 374 | 23 | C2H2-type 4 | ||||||
| Zinc finger | 380 – 402 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 408 – 430 | 23 | C2H2-type 6 | ||||||
| Zinc finger | 436 – 458 | 23 | C2H2-type 7 | ||||||
| Zinc finger | 464 – 486 | 23 | C2H2-type 8 | ||||||
| Zinc finger | 492 – 514 | 23 | C2H2-type 9 | ||||||
| Zinc finger | 520 – 542 | 23 | C2H2-type 10 | ||||||
| Region | 1 – 105 | 105 | Mediates interaction with TRIM28 By similarity | ||||||
| Region | 5 – 46 | 42 | Represses transcription By similarity | ||||||
| Region | 70 – 211 | 142 | Represses transcription By similarity | ||||||
| Region | 296 – 550 | 255 | Required for transcriptional repression activity; probably mediates sequence-specific DNA-binding By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 3 | 3 | MPL → MS in isoform 2. | VSP_036224 | |||||
| Alternative sequence | 78 | 1 | Missing in isoform 3. | VSP_036225 | |||||
| Natural variant | 168 | 1 | E → G. Ref.4 Ref.6 Corresponds to variant rs3108171 [ dbSNP | Ensembl ]. | VAR_054226 | |||||
Experimental info | |||||||||
| Sequence conflict | 129 – 130 | 2 | Missing in AAM48246. Ref.1 | ||||||
| Sequence conflict | 129 – 130 | 2 | Missing in AAO72308. Ref.2 | ||||||
| Sequence conflict | 129 – 130 | 2 | Missing in BAB55217. Ref.3 | ||||||
| Sequence conflict | 547 | 1 | T → M in AAI32676. Ref.6 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF513816 mRNA. Translation: AAM48246.1. AY227449 mRNA. Translation: AAO72308.1. AK027592 mRNA. Translation: BAB55217.1. AL832265 mRNA. Translation: CAI46159.1. AC074138 Genomic DNA. No translation available. AC092295 Genomic DNA. No translation available. BC132675 mRNA. Translation: AAI32676.2. |
| IPI | IPI00027563. IPI00639866. IPI00797562. |
| RefSeq | NP_001243767.1. NM_001256838.1. NP_116214.2. NM_032825.4. |
| UniGene | Hs.631591. |
3D structure databases | |
| ProteinModelPortal | Q96SR6. |
| SMR | Q96SR6. Positions 7-49, 133-542. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000292928. |
PTM databases | |
| PhosphoSite | Q96SR6. |
Polymorphism databases | |
| DMDM | 221222507. |
Proteomic databases | |
| PaxDb | Q96SR6. |
| PRIDE | Q96SR6. |
Protocols and materials databases | |
| DNASU | 84911. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000292928; ENSP00000292928; ENSG00000161298. ENST00000435416; ENSP00000410113; ENSG00000161298. ENST00000439428; ENSP00000407593; ENSG00000161298. |
| GeneID | 84911. |
| KEGG | hsa:84911. |
| UCSC | uc002oek.3. human. uc002oel.3. human. uc010efb.3. human. |
Organism-specific databases | |
| CTD | 84911. |
| GeneCards | GC19P037095. |
| HGNC | HGNC:17409. ZNF382. |
| HPA | HPA049259. |
| MIM | 609516. gene. |
| neXtProt | NX_Q96SR6. |
| PharmGKB | PA134869965. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5048. |
| HOGENOM | HOG000234617. |
| HOVERGEN | HBG018163. |
| InParanoid | Q96SR6. |
| KO | K09228. |
| OMA | AILTVHH. |
| OrthoDB | EOG4R23T9. |
| PhylomeDB | Q96SR6. |
Enzyme and pathway databases | |
| Reactome | REACT_71. Gene Expression. |
Gene expression databases | |
| ArrayExpress | Q96SR6. |
| Bgee | Q96SR6. |
| CleanEx | HS_ZNF382. |
| Genevestigator | Q96SR6. |
| GermOnline | ENSG00000161298. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.30.160.60. 10 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. 10 hits. [Graphical view] |
| SUPFAM | SSF109640. Krueppel-associated_box. 1 hit. |
| PROSITE | PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 9 hits. PS50157. ZINC_FINGER_C2H2_2. 10 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 84911. |
| NextBio | 75296. |
| SOURCE | Search... |
Entry information
| Entry name | ZN382_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96SR6 Secondary accession number(s): A3KMP6 Q5JPJ2 | ||||||||
| 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
