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

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; 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

Location:: 5q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (70900669..70918530)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (71357441..71375322)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (70196496..70214357)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483657

NoName (e-PCR)
- UniSTS:482905

RH103040 (e-PCR)
- UniSTS:97374

D5F149S1 (e-PCR)
- UniSTS:156648

D5F154S1 (e-PCR)
- UniSTS:156653

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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)

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
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