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

Gene ID: 8293, updated on 18-Aug-2020

Summary

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
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

Genomic context

See SERF1A in Genome Data Viewer
Location:
5q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (70900669..70918530)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70196490..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 cadherin 12 pseudogene 1 Neighboring gene mitochondrial import receptor subunit TOM5 homolog pseudogene Neighboring gene survival of motor neuron 1, telomeric Neighboring gene uncharacterized LOC112267942 Neighboring gene NLR family apoptosis inhibitory protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_021967.4NP_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
    O75920
    Related
    ENSP00000346892.3, ENST00000354833.7
    Conserved Domains (1) summary
    pfam04419
    Location:137
    4F5; 4F5 protein family
  2. NM_022968.2NP_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, ENST00000317633.13

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p13 ALT_REF_LOCI_2

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