Q6ECI4 (ZN470_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 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: Zinc finger protein 470 Alternative name(s): Chondrogenesis zinc finger protein 1 Short name=CZF-1 | ||||
| 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 | 717 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May be involved in transcriptional regulation. |
| Subcellular location | |
| Tissue specificity | Highly expressed in testis. Very low expression in thymus. No expression in other tissues tested. Expressed in a differentiation stage-specific manner in mesenchymal chondrogenic progenitor cells. Ref.1 |
| 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 BAC85218.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
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 |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | nucleus Inferred from direct assay. Source: HPA |
| 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 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ECI4-1) 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: Q6ECI4-2) The sequence of this isoform differs from the canonical sequence as follows: 63-63: G → GKSIFLLLPPHDSVVFYAIIRISHSFPQHRQFLYVFLHAG 95-251: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 717 | 717 | Zinc finger protein 470 | PRO_0000280413 | |||||
Regions | |||||||||
| Domain | 23 – 94 | 72 | KRAB | ||||||
| Zinc finger | 228 – 250 | 23 | C2H2-type 1 | ||||||
| Zinc finger | 256 – 278 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 284 – 306 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 312 – 334 | 23 | C2H2-type 4 | ||||||
| Zinc finger | 340 – 362 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 368 – 391 | 24 | C2H2-type 6 | ||||||
| Zinc finger | 397 – 419 | 23 | C2H2-type 7 | ||||||
| Zinc finger | 425 – 447 | 23 | C2H2-type 8 | ||||||
| Zinc finger | 453 – 475 | 23 | C2H2-type 9 | ||||||
| Zinc finger | 481 – 503 | 23 | C2H2-type 10 | ||||||
| Zinc finger | 509 – 531 | 23 | C2H2-type 11 | ||||||
| Zinc finger | 537 – 559 | 23 | C2H2-type 12 | ||||||
| Zinc finger | 565 – 587 | 23 | C2H2-type 13 | ||||||
| Zinc finger | 593 – 615 | 23 | C2H2-type 14 | ||||||
| Zinc finger | 621 – 643 | 23 | C2H2-type 15 | ||||||
| Zinc finger | 649 – 671 | 23 | C2H2-type 16 | ||||||
| Zinc finger | 677 – 699 | 23 | C2H2-type 17 | ||||||
| Motif | 216 – 219 | 4 | Nuclear localization signal Potential | ||||||
| Motif | 385 – 388 | 4 | Nuclear localization signal Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 63 | 1 | G → GKSIFLLLPPHDSVVFYAII RISHSFPQHRQFLYVFLHAG in isoform 2. | VSP_023660 | |||||
| Alternative sequence | 95 – 251 | 157 | Missing in isoform 2. | VSP_023661 | |||||
| Natural variant | 23 | 1 | V → L. Ref.1 Corresponds to variant rs10421285 [ dbSNP | Ensembl ]. | VAR_031143 | |||||
| Natural variant | 254 | 1 | K → R. Corresponds to variant rs3752179 [ dbSNP | Ensembl ]. | VAR_031144 | |||||
| Natural variant | 418 | 1 | T → I. Ref.1 Ref.4 Corresponds to variant rs4801177 [ dbSNP | Ensembl ]. | VAR_031145 | |||||
| Natural variant | 642 | 1 | I → T. Corresponds to variant rs35077804 [ dbSNP | Ensembl ]. | VAR_061950 | |||||
Experimental info | |||||||||
| Sequence conflict | 542 | 1 | C → R in AAS64219. Ref.1 | ||||||
| Sequence conflict | 584 | 1 | Q → P in AAS64219. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization and chondrocyte differentiation stage-specific expression of KRAB zinc-finger protein gene ZNF470." Hering T.M., Kazmi N.H., Huynh T.D., Kollar J., Xu L., Hunyady A.B., Johnstone B. Exp. Cell Res. 299:137-147(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS LEU-23 AND ILE-418. Tissue: Mesenchymal stem cell. |
| [2] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] | "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] OF 188-717 (ISOFORM 1), VARIANT ILE-418. Tissue: Adrenal gland. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY484591 mRNA. Translation: AAS64219.1. AC007228 Genomic DNA. Translation: AAD23607.1. BC136762 mRNA. Translation: AAI36763.1. AK129686 mRNA. Translation: BAC85218.1. Different initiation. |
| IPI | IPI00294218. IPI00791472. |
| RefSeq | NP_001001668.3. NM_001001668.3. |
| UniGene | Hs.204449. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1X6E based on UniProtKB P17028. |
| ProteinModelPortal | Q6ECI4. |
| SMR | Q6ECI4. Positions 23-63, 207-702. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q6ECI4. |
Polymorphism databases | |
| DMDM | 134035366. |
Proteomic databases | |
| PaxDb | Q6ECI4. |
| PRIDE | Q6ECI4. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000330619; ENSP00000333223; ENSG00000197016. ENST00000391709; ENSP00000375590; ENSG00000197016. |
| GeneID | 388566. |
| KEGG | hsa:388566. |
| UCSC | uc002qnl.4. human. |
Organism-specific databases | |
| CTD | 388566. |
| GeneCards | GC19P057078. |
| HGNC | HGNC:22220. ZNF470. |
| HPA | HPA029000. |
| neXtProt | NX_Q6ECI4. |
| PharmGKB | PA145007252. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5048. |
| HOGENOM | HOG000234617. |
| HOVERGEN | HBG018163. |
| InParanoid | Q6ECI4. |
| KO | K09228. |
| OMA | SKAFSQI. |
| OrthoDB | EOG4T782P. |
Gene expression databases | |
| Bgee | Q6ECI4. |
| CleanEx | HS_ZNF470. |
| Genevestigator | Q6ECI4. |
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 | 388566. |
| NextBio | 102168. |
Entry information
| Entry name | ZN470_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ECI4 Secondary accession number(s): A8MTW0 Q9Y2N9 | ||||||||
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
