SERF1A

Protein identityUniProt · HPA

UniProt accession

O75920

Gene

SERF1A

Ensembl

ENSG00000172058

Chromosome

5

Canonical length

110 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Nuclear bodies

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

110 residues, UniProt reviewed canonical sequence.

>O75920|SERF1A
     1  MARGNQRELA RQKNMKKTQE ISKGKRKEDS LTASQRKQSS GGQKSESKMS AGPHLPLKAP
    61  RENPCFPLPA AGGSRYYLAY GSITPISAFV FVVFFSVFFP SFYEDFCCWI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SERF1A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

134 nTPM

Expression across tissuesHPA

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.88

gnomAD pLI

0.3

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amyloid fibril formation
• nervous system development
• protein destabilization

Cellular components

• cytosol
• nucleus
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Small EDRK-rich factor-like, N-terminal
• Small EDRK-rich factor 1/2-like
• Small EDRK-rich factor 1/2-like, N-terminal

KeywordsUniProt

• Cytoplasm
• Nucleus

InteractionsUniProt · HPA

Protein binding partners of SERF1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SNCA