SSR4

Protein identityUniProt · HPA

UniProt accession

P51571

Gene

SSR4

Ensembl

ENSG00000180879

Chromosome

X

Canonical length

173 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]

Canonical amino-acid sequenceUniProt

173 residues, UniProt reviewed canonical sequence.

>P51571|SSR4
     1  MAAMASLGAL ALLLLSSLSR CSAEACLEPQ ITPSYYTTSD AVISTETVFI VEISLTCKNR
    61  VQNMALYADV GGKQFPVTRG QDVGRYQVSW SLDHKSAHAG TYEVRFFDEE SYSLLRKAQR
   121  NNEDISIIPP LFTVSVDHRG TWNGPWVSTE VLAAAIGLVI YYLAFSAKSH IQA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SSR4 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

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

2,940 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SSR4.

Disease | AllUniProt

Conditions SSR4 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1Y (CDG1Y) MIM:300934

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• SSR4-congenital disorder of glycosylation
• Nonpapillary renal cell carcinoma
• Thyroid cancer, nonmedullary, 1
• Inborn genetic diseases
• Ovarian serous cystadenocarcinoma

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)

0.44

gnomAD pLI

0.87

gnomAD missense Z

0.9

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

• endomembrane system
• endoplasmic reticulum
• extracellular exosome
• Sec61 translocon complex

Protein domainsUniProt · Pfam · InterPro

• Translocon-associated
• Translocon-associated protein, delta subunit precursor (TRAP-delta)

KeywordsUniProt

• Congenital disorder of glycosylation
• Disulfide bond
• Endoplasmic reticulum
• Isopeptide bond
• Membrane
• Signal
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SSR4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DDOST
• RPN1
• RPN2
• VAPB