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]
Tissue Specificity:
Isoform Long is predominantly expressed in heart, brain and skeletal muscle. Isoform Short and Isoform Long are expressed throughout the central nervous system, including spinal cord.
Similarity:
Belongs to the SERF family.
SWISS:
O75920
Gene ID:
728492
Database links:
Entrez Gene: 728492 Human
Entrez Gene: 8293 Human
Entrez Gene: 20365 Mouse
Entrez Gene: 502503 Rat
Omim: 603011 Human
SwissProt: O75920 Human
SwissProt: O88892 Mouse
Unigene: 559428 Human
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