Reviewed,
UniProtKB/Swiss-Prot P78424 (PO6F2_HUMAN)
Last modified
November 25, 2008.
Version 76.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: POU domain, class 6, transcription factor 2 Alternative name(s): Retina-derived POU domain factor 1 Short name=RPF-1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 683 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA. |
| Subcellular location | NucleusProbable. |
| Tissue specificity | Expressed only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina. |
| Involvement in disease | Defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5 (WT5) [MIM:601583]. WT5 is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. |
| Sequence similarities | Belongs to the POU transcription factor family. Class-6 subfamily. Contains 1 homeobox DNA-binding domain. Contains 1 POU-specific domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing |
| Disease | Disease mutation |
| Domain | Homeobox |
| Ligand | DNA-binding |
Gene Ontology (GO) | |
| Biological process | central nervous system development Ref.1 Traceable author statement. Source: ProtInc ganglion mother cell fate determination Ref.1Traceable author statement. Source: ProtInc regulation of transcription, DNA-dependent Ref.1Traceable author statement. Source: UniProtKB transcription from RNA polymerase II promoter Ref.1Traceable author statement. Source: ProtInc visual perception Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | nucleus Ref.1 Inferred by curator. Source: UniProtKB |
| Molecular function | sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Ref.1Traceable author statement. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P78424-1) 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. | ||||||
| Notes: Major isoform. | ||||||
| Isoform 2 (identifier: P78424-2) The sequence of this isoform differs from the canonical sequence as follows: 517-552: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 683 | 683 | POU domain, class 6, transcription factor 2 | PRO_0000100762 | |||||
Regions | |||||||||
| Domain | 468 – 578 | 111 | POU-specific | ||||||
| DNA binding | 599 – 658 | 60 | Homeobox | ||||||
| Compositional bias | 159 – 438 | 280 | Gln-rich | ||||||
| Compositional bias | 189 – 285 | 97 | Pro-rich | ||||||
| Compositional bias | 427 – 453 | 27 | Ser-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 517 – 552 | 36 | Missing in isoform 2. | VSP_002336 | |||||
| Natural variant | 184 | 1 | Q → H in WT5. | VAR_022419 | |||||
| Natural variant | 191 | 1 | P → L: dbSNP rs2074936. | VAR_028410 | |||||
| Natural variant | 492 | 1 | L → M: dbSNP rs4992268. | VAR_028411 | |||||
| Natural variant | 631 | 1 | E → K: dbSNP rs7804851. | VAR_028412 | |||||
Experimental info | |||||||||
| Sequence conflict | 188 | 1 | Q → QQ in AAB49727 and AAB49728. Ref.1 | ||||||
| Sequence conflict | 250 | 1 | Q → H in AAB49727 and AAB49728. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells." Zhou H., Yoshioka T., Nathans J. J. Neurosci. 16:2261-2274(1996) [PubMed: 8601806] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY. Tissue: Retina. |
| [2] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours." Perotti D., Testi M.A., Mondini P., Pilotti S., Green E.D., Pession A., Sozzi G., Pierotti M.A., Fossati-Bellani F., Radice P. Genes Chromosomes Cancer 31:42-47(2001) [PubMed: 11284034] [Abstract] Cited for: VARIANT WT5 HIS-184. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U91934 Genomic DNA. Translation: AAB49727.1. U91935 mRNA. Translation: AAB49728.1. AC005483 Genomic DNA. Translation: AAC83404.2. AC073345 Genomic DNA. Translation: AAS07475.1. AC092174 Genomic DNA. Translation: AAP21873.1. | |
| RefSeq | NP_009183.3. |
| UniGene | Hs.137106 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1CQT based on UniProtKB P14859. |
| ModBase | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000106536. Homo sapiens. [Contig view] |
| GeneID | 11281. |
| KEGG | hsa:11281. |
Organism-specific databases | |
| H-InvDB | HIX0033738. |
| HGNC | HGNC:21694. POU6F2. |
| HPA | HPA008699. |
| MIM | 601583. phenotype. 609062. gene. |
| Orphanet | 3458. Wilms tumour - radial bilateral aplasia. |
| PharmGKB | PA134969420. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P78424. |
| HOVERGEN | P78424. |
Gene expression databases | |
| ArrayExpress | P78424. |
| CleanEx | HS_POU6F2. |
| GermOnline | ENSG00000106536. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001356. Homeobox. IPR012287. Homeodomain-rel. IPR013847. POU. IPR000327. POU_specific. [Graphical view] |
| Gene3D | G3DSA:1.10.10.60. Homeodomain-rel. 1 hit. |
| Pfam | PF00046. Homeobox. 1 hit. PF00157. Pou. 1 hit. [Graphical view] |
| PRINTS | PR00028. POUDOMAIN. |
| ProDom | PD000010. Homeobox. 1 hit. PD000583. POU. 1 hit. [Graphical view] [Entries sharing at least one domain] |
| SMART | SM00389. HOX. 1 hit. SM00352. POU. 1 hit. [Graphical view] |
| PROSITE | PS00027. HOMEOBOX_1. False negative. PS50071. HOMEOBOX_2. 1 hit. PS00035. POU_1. 1 hit. PS00465. POU_2. 1 hit. PS51179. POU_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 42945. |
| SOURCE | Search... |
Entry information
| Entry name | PO6F2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P78424 Secondary accession number(s): P78425 Q9UDS7 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: 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


