SERF1A Gene
protein-coding GIFtS: 47
GCID: GC05P070235
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small EDRK-rich factor 1A (telomeric)
(Previous symbol: SERF1)
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Aliases
for SERF1A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Small EDRK-Rich Factor 1A (Telomeric)1 2 | | Protein 4F52 3 | | SMAM11 2 3 5 | | SMA Modifier 12 3 | | FAM2A1 2 3 | | Small EDRK-Rich Factor 12 | | SERF11 2 3 | | Spinal Muscular Atrophy-Related Gene H4F52 | | H4F51 2 5 | | FAM2B3 | | 4F51 2 | | H4F51 2 5 |
Export aliases for SERF1A gene to outside databasesPrevious GC identifers: GC05U990079 GC05P069855 GC05P070398 GC05P069356 GC05P065830 |
Summaries
for SERF1A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SERF1A:
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least fourgenes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexityof the sequence have also caused difficulty in determining the organization of this genomic region. The duplicationregion 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 thoughtthat this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bearslow-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclearribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but itis unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. (provided byRefSeq, Jul 2008)
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Genomic Views
for SERF1A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SERF1A gene promoter:
CREB IRF-2 C/EBPbeta POU2F1a FOXJ2 (long isoform) deltaCREB FOXJ2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SERF1A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERF1A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q13 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q13SERF1A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P070235: view genomic region
(about GC identifiers)
Start:
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70,196,490 bp from pter |
End:
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70,214,357 bp from pter |
Size:
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17,868 bases |
Orientation:
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plus strand |
1 alternative location:
| Chr5-,PATCHES 69,397,249-69,415,138 |
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Proteins
for SERF1A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920 (See
protein sequence)Recommended Name: Small EDRK-rich factor 1 Size: 110 amino acids; 12349 Da
Secondary accessions: B7ZKM2 O75919 Q52LK5Alternative splicing: 2 isoforms: O75920-1 O75920-2 Explore the universe of human proteins at neXtProt for SERF1A: NX_O75920
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O75920
SERF1A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_068802.1 NP_075257.1
ENSEMBL proteins: ENSP00000321791 ENSP00000429293 ENSP00000346892 ENSP00000422339 ENSP00000426322 ENSP00000428386 ENSP00000429748 ENSP00000430582
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0005575 | cellular_component |
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SERF1A for ontologies About GeneDecksing
SERF1A Antibody Products:
Assay Products for SERF1A: |
Protein
Domains /
Families
for SERF1A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SERF1A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O75920ProtoNet protein and cluster: O75920 1 Blocks protein family: IPB007513 Four F5 protein
UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920Similarity: Belongs to the SERF family |
Function
for SERF1A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for SERF1A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERF1A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERF1A |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
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SERF1A for ontologies About GeneDecksing
Animal Models:
3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Serf1):
SERF1A for phenotypes About GeneDecksing
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Pathways & Interactions
for SERF1A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SERF1A
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for SERF1A (O759203 ENSP000003468924) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007399 | nervous system development |
-- | -- |
SERF1A for ontologies About GeneDecksing
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Drugs & Compounds
for SERF1A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SERF1A
Search CenterWatch for drugs/clinical trials and news about SERF1A / SERF1
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Transcripts
for SERF1A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SERF1A gene (2 alternative transcripts): NM_021967.2 NM_022968.1 Unigene Cluster for SERF1A: Small EDRK-rich factor 1A (telomeric) Hs.726820 [show with all ESTs]Unigene Representative Sequence: NM_0219679 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000317633(uc003mqa.3) ENST00000511162 ENST00000354833(uc003kai.3)
ENST00000513436 ENST00000504458 ENST00000507348 ENST00000512868 ENST00000512649
ENST00000503509
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SERF1A (NM_021967) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SERF1A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERF1A |
Additional cDNA sequence: AF073518.1 AF073519.1 BC021174.1 BC035932.1 BC093880.1 BC093882.1 7 DOTS entries: DT.95157164 DT.97780241 DT.214248 DT.453238 DT.120845152 DT.120845327 DT.99985956 24/485 AceView cDNA sequences (see all 485): BI789150 CB306328 BM311283 BM054868 AI687994 BM142213 BI962625 AI921459 BU633623 CR626737 BU728019 AA988429 AI762053 BX642318 AF073520 BU622712 BM461719 CR623997 NM_022978 AA954014 CA418286 AI825654 AL702418 AA916956
GeneLoc Exon Structure
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Expression
for SERF1A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SERF1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGACATATTG
About this image
See SERF1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SERF1A
SOURCE GeneReport for Unigene cluster: Hs.726820
UniProtKB/Swiss-Prot: SERF1_HUMAN, O75920Tissue specificity: Isoform Long is predominantly expressed in heart, brain and skeletal muscle. Isoform Short andIsoform Long are expressed throughout the central nervous system, including spinal cord
SABiosciences Custom PCR Arrays for SERF1A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERF1A
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat SERF1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERF1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERF1A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERF1A |
Orthologs
for SERF1A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SERF1A gene from 4/10 species (see all 10) About this table
ENSEMBL Gene Tree for SERF1A (if available)
TreeFam Gene Tree for SERF1A (if available) |
Paralogs
for SERF1A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SERF1A gene
- SERF1B1 2 SERF22
2 SIMAP similar genes for SERF1A using alignment to 5 protein entries: SERF1_HUMAN (see all proteins):SERF1B SERF2
SERF1A for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for SERF1A
PGOHUM00000248953 PGOHUM00000245705
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Genomic Variants
for SERF1A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SERF1A (70196490 - 70214357 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 41 variations for SERF1A
15/39 CNVs (see all 39): 4452 69103 69105 69085 4449 31241 69097 69087 32723 64227 93094 69093 37550 7500 69120
2 Inversions: 37264 37263 | SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for SERF1A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SERF1A for disorders About GeneDecksing
OMIM gene information: 603011
OMIM disorders: --
4  diseases for SERF1A: About MalaCardsspinal muscular atrophy muscular atrophy borna disease scrapie
2 diseases from the University of Copenhagen DISEASES database for SERF1A:Scrapie Spinal muscular atrophy Human Genome Epidemiology (HuGE) Navigator: SERF1A (1 document)
Export disorders for SERF1A gene to outside databases
|
Publications
for SERF1A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SERF1A gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with SERF1A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. (PubMed id 9731538)1, 2, 3 Scharf J.M.... Kunkel L.M. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. (PubMed id 19154529)1, 9 Arkblad E....Darin N. (2009)
- Correlation of SMN2, NAIP, p44, H4F5 and Occludin gene s copy number with spinal muscular atrophy phenotype in Tunisian patients. (PubMed id 21821450)1 Amara A....Gribaa M. (2012)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Identification of MOAG-4/SERF as a regulator of age-r elated proteotoxicity. (PubMed id 20723760)1 van Ham T.J....Nollen E.A. (2010)
- Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (2008)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
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External Searches for SERF1A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SERF1A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SERF1A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SERF1A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SERF1A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SERF1A gene:
Search GeneIP for patents involving SERF1A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SERF1A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for SERF1A | | OriGene shRNA RFP for SERF1A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SERF1A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SERF1A | | | OriGene Protein Over-expression Lysate for SERF1A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for SERF1A | | OriGene 3'-UTR Clone for SERF1A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SERF1A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for SERF1A | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for SERF1A | | OriGene Custom Protein Services for SERF1A | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SERF1A | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SERF1A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SERF1A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SERF1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SERF1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SERF1A |
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| | | | Search Tocris compounds for SERF1A |
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 | | | SERF1A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SERF1A |
|  |  |  | | | | Search ThermoFisher Antibodies for SERF1A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SERF1A |
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