Q3B7T1 (EDRF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 66.
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: Erythroid differentiation-related factor 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 | 1238 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene. Ref.5 |
| Subcellular location | Nucleus Probable. |
| Sequence similarities | Contains 2 TPR repeats. |
| Sequence caution | The sequence BAG37462.1 differs from that shown. Reason: Erroneous initiation. The sequence CAH73214.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat TPR repeat |
| Molecular function | Activator |
| 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 electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q3B7T1-1) 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: Q3B7T1-3) The sequence of this isoform differs from the canonical sequence as follows: 793-796: AWAT → KTGK 797-1238: Missing. | ||||||
| Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 3 (identifier: Q3B7T1-4) The sequence of this isoform differs from the canonical sequence as follows: 587-593: PSCAFPV → LCISSLP 594-1238: Missing. | ||||||
| Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 4 (identifier: Q3B7T1-5) The sequence of this isoform differs from the canonical sequence as follows: 266-299: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1238 | 1238 | Erythroid differentiation-related factor 1 | PRO_0000244260 | |||||
Regions | |||||||||
| Repeat | 693 – 726 | 34 | TPR 1 | ||||||
| Repeat | 914 – 953 | 40 | TPR 2 | ||||||
Natural variations | |||||||||
| Alternative sequence | 266 – 299 | 34 | Missing in isoform 4. | VSP_035712 | |||||
| Alternative sequence | 587 – 593 | 7 | PSCAFPV → LCISSLP in isoform 3. | VSP_035713 | |||||
| Alternative sequence | 594 – 1238 | 645 | Missing in isoform 3. | VSP_035714 | |||||
| Alternative sequence | 793 – 796 | 4 | AWAT → KTGK in isoform 2. | VSP_019531 | |||||
| Alternative sequence | 797 – 1238 | 442 | Missing in isoform 2. | VSP_019532 | |||||
| Natural variant | 45 | 1 | N → S in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_035862 | |||||
| Natural variant | 95 | 1 | L → F in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_035863 | |||||
Experimental info | |||||||||
| Sequence conflict | 443 | 1 | E → G in AAH26172. Ref.2 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AL158835 Genomic DNA. Translation: CAH73214.1. Sequence problems. BC026172 mRNA. Translation: AAH26172.1. BC105929 mRNA. Translation: AAI05930.1. BC107479 mRNA. Translation: AAI07480.1. AK314958 mRNA. Translation: BAG37462.1. Different initiation. AL050102 mRNA. Translation: CAB43273.1. |
| IPI | IPI00746361. IPI00761051. IPI00844267. IPI00914869. |
| PIR | T08751. |
| RefSeq | NP_001189367.1. NM_001202438.1. NP_056423.2. NM_015608.2. |
| UniGene | Hs.468688. |
3D structure databases | |
| ProteinModelPortal | Q3B7T1. |
| SMR | Q3B7T1. Positions 695-722. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q3B7T1. 2 interactions. |
| STRING | 9606.ENSP00000336727. |
PTM databases | |
| PhosphoSite | Q3B7T1. |
Polymorphism databases | |
| DMDM | 109826957. |
Proteomic databases | |
| PaxDb | Q3B7T1. |
| PRIDE | Q3B7T1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000337623; ENSP00000336727; ENSG00000107938. ENST00000356792; ENSP00000349244; ENSG00000107938. ENST00000368815; ENSP00000357805; ENSG00000107938. ENST00000419769; ENSP00000396544; ENSG00000107938. |
| GeneID | 26098. |
| KEGG | hsa:26098. |
| UCSC | uc001lin.3. human. uc001lip.1. human. |
Organism-specific databases | |
| CTD | 26098. |
| GeneCards | GC10P127408. |
| HGNC | HGNC:24640. C10orf137. |
| HPA | HPA031820. |
| neXtProt | NX_Q3B7T1. |
| PharmGKB | PA134873666. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG79617. |
| HOVERGEN | HBG081471. |
| OMA | EMIKTED. |
Gene expression databases | |
| ArrayExpress | Q3B7T1. |
| Bgee | Q3B7T1. |
| CleanEx | HS_C10orf137. |
| Genevestigator | Q3B7T1. |
Family and domain databases | |
| PROSITE | PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | C10orf137. human. |
| GenomeRNAi | 26098. |
| NextBio | 48077. |
| PMAP-CutDB | Q3B7T1. |
Entry information
| Entry name | EDRF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3B7T1 Secondary accession number(s): B2RC65 Q9Y3W4 | ||||||||
| 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 10 Human chromosome 10: 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
