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Aliases for SERF1A Gene

Aliases for SERF1A Gene

  • Small EDRK-Rich Factor 1A (Telomeric) 2 3
  • SMA Modifier 1 2 3 4
  • SMAM1 3 4 6
  • H4F5 3 4 6
  • Spinal Muscular Atrophy-Related Gene H4F5 2 3
  • Protein 4F5 3 4
  • FAM2A 3 4
  • SERF1 3 4
  • Small EDRK-Rich Factor 1 3
  • SERF1A SERF1B 4
  • FAM2B 4
  • 4F5 3

External Ids for SERF1A Gene

Previous Symbols for SERF1A Gene

  • SERF1

Summaries for SERF1A Gene

Entrez Gene Summary for SERF1A Gene

  • 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]

GeneCards Summary for SERF1A Gene

SERF1A (Small EDRK-Rich Factor 1A (Telomeric)) is a Protein Coding gene. Diseases associated with SERF1A include muscular atrophy. An important paralog of this gene is SERF1B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SERF1A Gene

Genomics for SERF1A Gene

Genomic Location for SERF1A Gene

Start:
70,900,663 bp from pter
End:
70,918,530 bp from pter
Size:
17,868 bases
Orientation:
Plus strand

Genomic View for SERF1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SERF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERF1A Gene

Regulatory Elements for SERF1A Gene

Proteins for SERF1A Gene

  • Protein details for SERF1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75920-SERF1_HUMAN
    Recommended name:
    Small EDRK-rich factor 1
    Protein Accession:
    O75920
    Secondary Accessions:
    • B7ZKM2
    • O75919
    • Q52LK5

    Protein attributes for SERF1A Gene

    Size:
    110 amino acids
    Molecular mass:
    12349 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SERF1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERF1A Gene

Proteomics data for SERF1A Gene at MOPED

Post-translational modifications for SERF1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERF1A Gene

Domains for SERF1A Gene

Protein Domains for SERF1A Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75920

UniProtKB/Swiss-Prot:

SERF1_HUMAN
Family:
  • Belongs to the SERF family.:
    • O75920
genes like me logo Genes that share domains with SERF1A: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for SERF1A Gene

Function for SERF1A Gene

Gene Ontology (GO) - Molecular Function for SERF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SERF1A: view
genes like me logo Genes that share phenotypes with SERF1A: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SERF1A Gene

Localization for SERF1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SERF1A Gene COMPARTMENTS Subcellular localization image for SERF1A gene
Compartment Confidence
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SERF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with SERF1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SERF1A Gene

Pathways for SERF1A Gene

SuperPathways for SERF1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 9731538
genes like me logo Genes that share ontologies with SERF1A: view

No data available for Pathways by source for SERF1A Gene

Transcripts for SERF1A Gene

Unigene Clusters for SERF1A Gene

Small EDRK-rich factor 1A (telomeric):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SERF1A Gene

No ASD Table

Relevant External Links for SERF1A Gene

GeneLoc Exon Structure for
SERF1A
ECgene alternative splicing isoforms for
SERF1A

Expression for SERF1A Gene

mRNA expression in normal human tissues for SERF1A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SERF1A Gene

SOURCE GeneReport for Unigene cluster for SERF1A Gene Hs.726820

mRNA Expression by UniProt/SwissProt for SERF1A Gene

O75920-SERF1_HUMAN
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
genes like me logo Genes that share expressions with SERF1A: view

No data available for mRNA differential expression in normal tissues for SERF1A Gene

Orthologs for SERF1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SERF1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 99 (a)
OneToMany
SERF1B 35
  • 99.46 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia SERF1 36
  • 60 (a)
OneToMany
SERF1A 35
  • 91.94 (n)
  • 93.55 (a)
dog
(Canis familiaris)
Mammalia SERF1A 35
  • 93.01 (n)
  • 95.16 (a)
SERF2 36
  • 46 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Serf1 35
  • 89.78 (n)
  • 93.55 (a)
Serf1 16
Serf1 36
  • 61 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 31 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Serf1 35
  • 89.78 (n)
  • 93.55 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii serf2 36
  • 48 (a)
ManyToMany
si:ch211-39k3.2 36
  • 46 (a)
ManyToMany
Species with no ortholog for SERF1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERF1A Gene

ENSEMBL:
Gene Tree for SERF1A (if available)
TreeFam:
Gene Tree for SERF1A (if available)

Paralogs for SERF1A Gene

Paralogs for SERF1A Gene

Selected SIMAP similar genes for SERF1A Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for SERF1A Gene

genes like me logo Genes that share paralogs with SERF1A: view

Variants for SERF1A Gene

Sequence variations from dbSNP and Humsavar for SERF1A Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs2617482 -- 70,904,472(-) ATTTA(A/T)CTTTC intron-variant
rs28588308 -- 70,913,130(-) CACTT(C/T)GGGAG intron-variant
rs28615563 -- 70,913,074(-) AGAAA(G/T)AAATA intron-variant
rs28735669 -- 70,912,992(-) AACCC(A/G)GGAGG intron-variant
rs55710703 -- 70,913,097(-) GGCCG(A/G)GCATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SERF1A Gene

Variant ID Type Subtype PubMed ID
nsv821643 CNV Loss 15273396
nsv881768 CNV Loss 21882294
nsv428117 CNV Gain+Loss 18775914
dgv6086n71 CNV Gain 21882294
nsv10707 CNV Gain+Loss 18304495
esv32846 CNV Loss 17666407
esv22113 CNV Gain+Loss 19812545
nsv433371 CNV Gain 18776910
dgv6087n71 CNV Loss 21882294
nsv881779 CNV Loss 21882294
dgv6089n71 CNV Loss 21882294
dgv6090n71 CNV Loss 21882294
dgv1804e1 CNV Complex 17122850
dgv1805e1 CNV Complex 17122850
dgv1806e1 CNV Complex 17122850
dgv6091n71 CNV Loss 21882294
dgv6092n71 CNV Gain 21882294
dgv6093n71 CNV Loss 21882294
nsv508367 CNV Loss 20534489
dgv6094n71 CNV Loss 21882294
dgv6095n71 CNV Gain 21882294
dgv6096n71 CNV Gain 21882294
dgv6097n71 CNV Gain+Loss 21882294
dgv6098n71 CNV Loss 21882294
nsv511274 CNV Gain 21212237
dgv6099n71 CNV Loss 21882294
dgv6100n71 CNV Gain 21882294
dgv6101n71 CNV Loss 21882294
dgv6102n71 CNV Loss 21882294
dgv6103n71 CNV Loss 21882294
dgv6104n71 CNV Gain+Loss 21882294
nsv830335 CNV Gain 17160897
nsv881855 CNV Gain+Loss 21882294
dgv6105n71 CNV Gain 21882294
dgv6106n71 CNV Loss 21882294
dgv6107n71 CNV Gain+Loss 21882294
nsv881878 CNV Gain 21882294
dgv6108n71 CNV Loss 21882294
esv32787 CNV Gain+Loss 17666407
nsv881883 CNV Gain 21882294
nsv881890 CNV Loss 21882294
nsv514310 CNV Gain 21397061
nsv471547 CNV Duplication 19718026
dgv6109n71 CNV Loss 21882294
nsv881892 CNV Gain+Loss 21882294
dgv6110n71 CNV Gain 21882294
nsv881894 CNV Loss 21882294
dgv6111n71 CNV Loss 21882294
nsv881899 CNV Gain 21882294
nsv511104 OTHER Inversion 20534489
dgv1807e1 CNV Complex 17122850
nsv511106 OTHER Inversion 20534489
nsv7371 OTHER Inversion 18451855
dgv6132n71 CNV Loss 21882294
nsv881986 CNV Gain 21882294
dgv6135n71 CNV Loss 21882294
nsv882003 CNV Gain 21882294
dgv6136n71 CNV Loss 21882294
nsv882006 CNV Gain 21882294
dgv6137n71 CNV Loss 21882294
dgv1808e1 CNV Complex 17122850
dgv6138n71 CNV Loss 21882294
dgv6139n71 CNV Loss 21882294
dgv6140n71 CNV Gain+Loss 21882294
dgv6141n71 CNV Gain 21882294
dgv6142n71 CNV Gain 21882294
nsv882034 CNV Loss 21882294
dgv6143n71 CNV Gain+Loss 21882294
dgv6144n71 CNV Loss 21882294
dgv6145n71 CNV Loss 21882294
nsv469668 CNV Gain 16826518
dgv6146n71 CNV Gain+Loss 21882294
dgv6147n71 CNV Gain 21882294
dgv6148n71 CNV Loss 21882294
dgv6149n71 CNV Loss 21882294
dgv6150n71 CNV Loss 21882294
nsv882064 CNV Gain+Loss 21882294
dgv6151n71 CNV Loss 21882294
dgv6152n71 CNV Loss 21882294
dgv6153n71 CNV Gain 21882294
nsv830339 CNV Gain 17160897
esv2590135 CNV Gain 19546169
dgv19n31 CNV Duplication 19718026
nsv471432 CNV Duplication 19718026
nsv882084 CNV Gain+Loss 21882294
dgv6154n71 CNV Loss 21882294
dgv6155n71 CNV Gain+Loss 21882294
dgv6156n71 CNV Gain+Loss 21882294
dgv6157n71 CNV Gain+Loss 21882294
dgv1809e1 CNV Complex 17122850
dgv1810e1 CNV Complex 17122850

Relevant External Links for SERF1A Gene

HapMap Linkage Disequilibrium report
SERF1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERF1A Gene

Disorders for SERF1A Gene

(1) MalaCards Diseases for SERF1A Gene

Search for SERF1A Gene in MalaCards »

(2) University of Copenhagen DISEASES for SERF1A Gene

Relevant External Links for SERF1A

Genetic Association Database (GAD)
SERF1A
Human Genome Epidemiology (HuGE) Navigator
SERF1A
genes like me logo Genes that share disorders with SERF1A: view

No data available for UniProtKB/Swiss-Prot for SERF1A Gene

Publications for SERF1A Gene

  1. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. (PMID: 19154529) Arkblad E. … Darin N. (Acta Paediatr. 2009) 3 23 48
  2. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PMID: 9731538) Scharf J.M. … Kunkel L.M. (Nat. Genet. 1998) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  5. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PMID: 18624398) Wang J. … He F. (J. Proteome Res. 2008) 3

Products for SERF1A Gene

Sources for SERF1A Gene

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