SEPHS1

Protein identityUniProt · HPA

UniProt accession

P49903

Gene

SEPHS1

Ensembl

ENSG00000086475

Chromosome

10

Canonical length

392 aa

Protein class

Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>P49903|SEPHS1
     1  MSTRESFNPE SYELDKSFRL TRFTELKGTG CKVPQDVLQK LLESLQENHF QEDEQFLGAV
    61  MPRLGIGMDT CVIPLRHGGL SLVQTTDYIY PIVDDPYMMG RIACANVLSD LYAMGVTECD
   121  NMLMLLGVSN KMTDRERDKV MPLIIQGFKD AAEEAGTSVT GGQTVLNPWI VLGGVATTVC
   181  QPNEFIMPDN AVPGDVLVLT KPLGTQVAVA VHQWLDIPEK WNKIKLVVTQ EDVELAYQEA
   241  MMNMARLNRT AAGLMHTFNA HAATDITGFG ILGHAQNLAK QQRNEVSFVI HNLPVLAKMA
   301  AVSKACGNMF GLMHGTCPET SGGLLICLPR EQAARFCAEI KSPKYGEGHQ AWIIGIVEKG
   361  NRTARIIDKP RIIEVAPQVA TQNVNPTPGA TS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SEPHS1 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SEPHS1.

Disease | AllUniProt

Conditions SEPHS1 is implicated in, by any mechanism.

• Ververi-Brady syndrome 2 (VERBRAS2) MIM:621325

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 65 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ververi-Brady syndrome 2
• SEPHS1-related disorder
• SEPHS1-related developmental delay

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)

0.3

gnomAD pLI

0.98

gnomAD missense Z

3.24

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell redox homeostasis
• protein modification process
• selenocysteine biosynthetic process

Molecular functions

• ATP binding
• GTP binding
• identical protein binding
• metal ion binding
• protein heterodimerization activity
• protein homodimerization activity
• selenide, water dikinase activity

Cellular components

• cytoplasm
• nuclear membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Selenophosphate synthetase
• PurM-like, C-terminal domain
• PurM-like, N-terminal domain
• PurM-like, C-terminal domain superfamily
• PurM-like, N-terminal domain superfamily
• AIR synthase related protein, N-terminal domain
• AIR synthase related protein, C-terminal domain

KeywordsUniProt

• Acetylation
• ATP-binding
• Cell membrane
• Chromosome
• Cytoplasm
• Intellectual disability
• Kinase
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Nucleus
• Selenium
• Transcription
• Transcription regulation
• Transferase

InteractionsUniProt · HPA

Protein binding partners of SEPHS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ZFP91
• ZNF526
• PRDM15
• ZNF652
• QRICH1
• SEPHS2