UniProt Protein Function: | SERF1: 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]Chromosomal Location of Human Ortholog: 5q13Biological Process: nervous system development |
UniProt Protein Details: | |
NCBI 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] |
UniProt Code: | O75920 |
NCBI GenInfo Identifier: | 296010886 |
NCBI Gene ID: | 728492 |
NCBI Accession: | NP_001171558.1 |
UniProt Secondary Accession: | O75920,O75919, Q52LK5, B7ZKM2 |
UniProt Related Accession: | O75920 |
Molecular Weight: | 7,336 Da |
NCBI Full Name: | small EDRK-rich factor 1 isoform 1 |
NCBI Synonym Full Names: | small EDRK-rich factor 1B (centromeric) |
NCBI Official Symbol: | SERF1BÂ Â |
NCBI Official Synonym Symbols: | h4F5; FAM2B; H4F5CÂ Â |
NCBI Protein Information: | small EDRK-rich factor 1 |
UniProt Protein Name: | Small EDRK-rich factor 1 |
UniProt Synonym Protein Names: | Protein 4F5; h4F5; SMA modifier 1 |
Protein Family: | |
UniProt Gene Name: | SERF1AÂ Â |
UniProt Entry Name: | SERF1_HUMAN |