Version 5.4
| Homo sapiens Gene: SERF1B | |||||
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| Summary | |||||
| InnateDB Gene | IDBG-26372.6 | ||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||
| Gene Symbol | SERF1B | ||||
| Gene Name | small EDRK-rich factor 1B (centromeric) | ||||
| Synonyms | |||||
| Species | Homo sapiens | ||||
| Ensembl Gene | ENSG00000205572 | ||||
| Encoded Proteins |
small EDRK-rich factor 1B (centromeric)
small EDRK-rich factor 1B (centromeric)
small EDRK-rich factor 1B (centromeric)
small EDRK-rich factor 1B (centromeric)
small EDRK-rich factor 1B (centromeric)
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| Protein Structure | |||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||
| Entrez Gene | |||||
| Summary |
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008] This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||
| Type | Protein coding | ||||
| Genomic Location | Chromosome 5:70025247-70043113 | ||||
| Strand | Forward strand | ||||
| Band | q13.2 | ||||
| Transcripts | |||||
| Interactions | |||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||
| SwissProt | |||||
| TrEMBL | |||||
| UniProt Splice Variant | |||||
| Entrez Gene | |||||
| UniGene | Hs.559428 Hs.649539 Hs.726820 | ||||
| RefSeq | NM_001178087 NM_022978 | ||||
| HUGO | |||||
| OMIM | |||||
| CCDS | CCDS43326 CCDS54866 | ||||
| HPRD | |||||
| IMGT | |||||
| EMBL | |||||
| GenPept | |||||
| RNA Seq Atlas | |||||