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Aliases for SERF1A Gene

Aliases for SERF1A Gene

  • Small EDRK-Rich Factor 1A 2 3 5
  • SMA Modifier 1 2 3 4
  • Spinal Muscular Atrophy-Related Gene H4F5 2 3
  • Small EDRK-Rich Factor 1A (Telomeric) 2 3
  • Protein 4F5 3 4
  • SERF1 3 4
  • FAM2A 3 4
  • SMAM1 3 4
  • H4F5 3 4
  • Small EDRK-Rich Factor 1 3
  • FAM2B 4
  • 4F5 3

External Ids for SERF1A Gene

Previous HGNC Symbols for SERF1A Gene

  • SERF1

Previous GeneCards Identifiers for SERF1A Gene

  • GC05U990079
  • GC05P069855
  • GC05P070398
  • GC05P069356
  • GC05P070235
  • GC05P065830
  • GC05P070198

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) is a Protein Coding gene. Diseases associated with SERF1A include Spinal Muscular Atrophy and Muscular Atrophy. An important paralog of this gene is SERF1B.

Additional gene information for SERF1A Gene

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

Genomics for SERF1A Gene

GeneHancer (GH) Regulatory Elements for SERF1A Gene

Promoters and enhancers for SERF1A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I070900 Promoter 1 EPDnew Ensembl 550.8 +0.3 338 1.6 SERF1A SMN1
GH05I071414 Enhancer 0.7 dbSUPER 5.4 +521.9 521949 15.4 MAFG FEZF1 ATF2 ZSCAN21 ZNF664 ATF4 JUND ZNF316 NFIC SCRT2 MCCC2 BDP1 LOC653406 SERF1A LOC107987420 LOC107987434 LINC02197 PMCHL2
GH05I071030 Enhancer 0.2 Ensembl 4.1 +130.8 130838 1.8 SERF1A NAIP GTF2H2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SERF1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERF1A gene promoter:

Genomic Locations for SERF1A Gene

Genomic Locations for SERF1A Gene
17,868 bases
Plus strand

Genomic View for SERF1A Gene

Genes around SERF1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERF1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERF1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERF1A Gene

Proteins for SERF1A Gene

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

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

    Protein attributes for SERF1A Gene

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

    Alternative splice isoforms for SERF1A Gene


neXtProt entry for SERF1A Gene

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 & Families for SERF1A Gene

Gene Families for SERF1A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SERF1A Gene


Graphical View of Domain Structure for InterPro Entry



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

No data available for 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

Phenotypes for SERF1A Gene

GenomeRNAi human phenotypes for SERF1A:
genes like me logo Genes that share phenotypes with SERF1A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERF1A Gene

Localization for SERF1A Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERF1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SERF1A: view

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

Pathways & Interactions for SERF1A Gene

SuperPathways for SERF1A Gene

No Data Available

Interacting Proteins for SERF1A Gene

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 and SIGNOR curated interactions for SERF1A Gene

Drugs & Compounds for SERF1A Gene

No Compound Related Data Available

Transcripts for SERF1A Gene

Unigene Clusters for SERF1A Gene

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

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for SERF1A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SERF1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERF1A Gene

Protein differential expression in normal tissues from HIPED for SERF1A Gene

This gene is overexpressed in Platelet (57.2) and Islet of Langerhans (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SERF1A Gene

Protein tissue co-expression partners for SERF1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERF1A Gene:


SOURCE GeneReport for Unigene cluster for SERF1A Gene:


mRNA Expression by UniProt/SwissProt for SERF1A Gene:

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.

Evidence on tissue expression from TISSUES for SERF1A Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with SERF1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia SERF1B 33
  • 99.46 (n)
-- 34
  • 99 (a)
(Canis familiaris)
Mammalia SERF1A 33
  • 93.01 (n)
SERF2 34
  • 46 (a)
(Bos Taurus)
Mammalia SERF1A 33
  • 91.94 (n)
SERF1 34
  • 60 (a)
(Mus musculus)
Mammalia Serf1 33 34
  • 89.78 (n)
(Rattus norvegicus)
Mammalia Serf1 33
  • 89.78 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
(Gallus gallus)
Aves -- 34
  • 58 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
(Danio rerio)
Actinopterygii serf2 34
  • 48 (a)
si:ch211-39k3.2 34
  • 46 (a)
Species where no ortholog for SERF1A was found in the sources mined by GeneCards:
  • 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

Gene Tree for SERF1A (if available)
Gene Tree for SERF1A (if available)

Paralogs for SERF1A Gene

Paralogs for SERF1A Gene

(2) SIMAP similar genes for SERF1A Gene using alignment to 5 proteins: 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 Variation AA Info Type
rs1006299656 -- 70,910,211(+) A/G genic_downstream_transcript_variant, intron_variant
rs1006314795 -- 70,908,375(+) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1006332408 -- 70,905,025(+) C/T intron_variant
rs1007836076 -- 70,912,336(+) C/T genic_downstream_transcript_variant, intron_variant
rs1008217859 -- 70,913,391(+) /C genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv19n31 CNV gain 19718026
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv7e224 CNV loss 25118596
dgv9838n54 CNV loss 21841781
dgv9842n54 CNV loss 21841781
dgv9843n54 CNV loss 21841781
dgv9844n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9846n54 CNV loss 21841781
dgv9856n54 CNV loss 21841781
dgv9857n54 CNV loss 21841781
esv22113 CNV gain+loss 19812545
esv2590135 CNV gain 19546169
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv32846 CNV loss 17666407
esv3570183 CNV loss 25503493
esv3890639 CNV gain 25118596
esv3890645 CNV loss 25118596
esv3890647 CNV loss 25118596
esv3890650 CNV loss 25118596
esv3890652 CNV loss 25118596
esv3890653 CNV loss 25118596
esv3894208 CNV loss 25118596
esv3894209 CNV loss 25118596
nsv10707 CNV gain+loss 18304495
nsv1073892 CNV deletion 25765185
nsv1115697 CNV duplication 24896259
nsv1137530 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433371 CNV gain 18776910
nsv469668 CNV gain 16826518
nsv471432 CNV gain 19718026
nsv471547 CNV gain 19718026
nsv508367 CNV deletion 20534489
nsv511104 OTHER inversion 20534489
nsv511106 OTHER inversion 20534489
nsv511274 CNV gain 21212237
nsv514310 CNV gain 21397061
nsv598462 CNV gain 21841781
nsv598473 CNV loss 21841781
nsv598492 CNV gain 21841781
nsv598503 CNV loss 21841781
nsv598533 CNV loss 21841781
nsv598536 CNV gain 21841781
nsv598543 CNV loss 21841781
nsv598545 CNV loss 21841781
nsv7371 OTHER inversion 18451855
nsv821643 CNV loss 15273396
nsv830335 CNV gain 17160897
nsv830339 CNV gain 17160897
nsv964884 CNV duplication 23825009
nsv980661 CNV duplication 23825009
nsv980676 CNV duplication 23825009

Additional Variant Information for SERF1A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SERF1A Gene

MalaCards: The human disease database

(2) MalaCards diseases for SERF1A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy
  • sma
muscular atrophy
  • amyotrophia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERF1A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SERF1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 paediatrica (Oslo, Norway : 1992) 2009) 3 22 44 58
  2. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PMID: 9731538) Scharf JM … Kunkel LM (Nature genetics 1998) 2 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert JP … Gingras AC (Journal of proteomics 2015) 3 58
  5. Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients. (PMID: 26311540) Brkušanin M … Savić-Pavićević D (Journal of human genetics 2015) 3 58

Products for SERF1A Gene

Sources for SERF1A Gene

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