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    SERF1A small EDRK-rich factor 1A [ Homo sapiens (human) ]

    Gene ID: 8293, updated on 6-Jun-2024

    Summary

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    Official Symbol
    SERF1Aprovided by HGNC
    Official Full Name
    small EDRK-rich factor 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:10755
    See related
    Ensembl:ENSG00000172058 MIM:603011; AllianceGenome:HGNC:10755
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    4F5; H4F5; FAM2A; SERF1; SMAM1
    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. 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]
    Annotation information
    Note: June 2007: The sequences of SERF1A and SERF1B are identical. The names were switched so that the location of each gene corresponds with the official nomenclature, which specifies telomeric and centromeric copies. [26 Jun 2007]
    Expression
    Broad expression in testis (RPKM 16.4), brain (RPKM 11.1) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SERF1A in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70900669..70918530)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71357441..71375322)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70196496..70214357)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GUSB pseudogene 16 Neighboring gene putative POM121-like protein 1-like pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70073409-70073991 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70073992-70074574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70084596-70085096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70085097-70085597 Neighboring gene cadherin 12 pseudogene 1 Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70220520-70221452 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70227603-70228594 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70228664-70229392 Neighboring gene survival motor neuron- antisense 1 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70260097-70260788 Neighboring gene uncharacterized LOC112267942 Neighboring gene NLR family apoptosis inhibitory protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients. Brkušanin M, et al. J Hum Genet, 2015 Nov. PMID 26311540
    2. The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation. Pras A, et al. EMBO J, 2021 Nov 2. PMID 34617299, Free PMC Article
    3. Increased Aggregation Tendency of Alpha-Synuclein in a Fully Disordered Protein Complex. Merle DA, et al. J Mol Biol, 2019 Jun 28. PMID 31034892
    4. Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients. Amara A, et al. Eur J Paediatr Neurol, 2012 Mar. PMID 21821450
    5. A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Arkblad E, et al. Acta Paediatr, 2009 May. PMID 19154529

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Amyloid Modifier SERF1a Accelerates Alzheimer's Amyloid-beta Fibrillization and Exacerbates the Cytotoxicity.
      Title: Amyloid Modifier SERF1a Accelerates Alzheimer's Amyloid-β Fibrillization and Exacerbates the Cytotoxicity.
    2. The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation.
      Title: The cellular modifier MOAG-4/SERF drives amyloid formation through charge complementation.
    3. Inverse correlation was observed between SMN2, SERF1A and NAIP copy number polymorphism and spinal muscular atrophy type.
      Title: Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.
    4. the autonomous amyloid-modifying activity of SERF1a observed in living organisms relies on a direct and dedicated manipulation of the early stages in the amyloid aggregation pathway.
      Title: SERF protein is a direct modifier of amyloid fiber assembly.
    5. There is a close relationship between SMN2, NAIP and H4F5 gene copy number and spinal muscular atrophy disease severity
      Title: Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
    6. The human orthologs of MOAG-4, SERF2 and SERF1A, are ubiquitously expressed, consistent with a role in a general cellular pathway.
      Title: Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amyloid fibril formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein destabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    small EDRK-rich factor 1
    Names
    SMA modifier 1
    protein 4F5
    small EDRK-rich factor 1A (telomeric)
    spinal muscular atrophy-related gene H4F5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021967.4 → NP_068802.1  small EDRK-rich factor 1 isoform 1

      See identical proteins and their annotated locations for NP_068802.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC139834
      Consensus CDS
      CCDS47228.1
      UniProtKB/Swiss-Prot
      B7ZKM2, O75919, O75920, Q52LK5
      UniProtKB/TrEMBL
      D6RCL9
      Related
      ENSP00000346892.3, ENST00000354833.7
      Conserved Domains (1) summary
      pfam04419
      Location:1 → 37
      4F5; 4F5 protein family

    2. NM_022968.2 → NP_075257.1  small EDRK-rich factor 1 isoform 2

      See identical proteins and their annotated locations for NP_075257.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC139834, CK904564
      Consensus CDS
      CCDS47229.1
      UniProtKB/Swiss-Prot
      O75920
      Related
      ENSP00000321791.8, ENST00000317633.14

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      70900669..70918530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1563551..1581456 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443305.1 → XP_047299261.1  small EDRK-rich factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B7ZKM2, O75919, O75920, Q52LK5
      UniProtKB/TrEMBL
      D6RCL9

    2. XM_047443306.1 → XP_047299262.1  small EDRK-rich factor 1 isoform X2

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      492256..510139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      449077..466963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      71357441..71375322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75920.1 GenPept UniProtKB/Swiss-Prot:O75920

    Gene LinkOut

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