Version 5.4
Homo sapiens Gene: SERF1A
Summary
InnateDB Gene IDBG-26799.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERF1A
Gene Name small EDRK-rich factor 1A (telomeric)
Synonyms 4F5; FAM2A; H4F5; SERF1; SMAM1
Species Homo sapiens
Ensembl Gene ENSG00000172058
Encoded Proteins
IDBP-26801
small EDRK-rich factor 1A (telomeric)
IDBP-26803
small EDRK-rich factor 1A (telomeric)
IDBP-476612
small EDRK-rich factor 1A (telomeric)
IDBP-478246
small EDRK-rich factor 1A (telomeric)
IDBP-483483
small EDRK-rich factor 1A (telomeric)
IDBP-476304
small EDRK-rich factor 1A (telomeric)
IDBP-475889
small EDRK-rich factor 1A (telomeric)
IDBP-476718
small EDRK-rich factor 1A (telomeric)
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:70900665-70918530
Strand Forward strand
Band q13.2
Transcripts
ENST00000317633 ENSP00000321791
ENST00000354833 ENSP00000346892
ENST00000511162 ENSP00000429293
ENST00000513436 ENSP00000422339
ENST00000504458 ENSP00000426322
ENST00000507348 ENSP00000428386
ENST00000512868 ENSP00000429748
ENST00000512649 ENSP00000430582
ENST00000503509
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0007399 nervous system development
Cellular Component
GO:0005575 cellular_component
Orthologs
No orthologs found for this gene
Cross-References
SwissProt
TrEMBL D6RC90
UniProt Splice Variant
Entrez Gene 8293
UniGene Hs.649539
RefSeq NM_021967 NM_022968
HUGO HGNC:10755
OMIM 603011
CCDS CCDS47228 CCDS47229
HPRD 04308
IMGT
EMBL AC139277 AC139834
GenPept
RNA Seq Atlas 728492 8293

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca