SSR4 (signal sequence receptor subunit 4)

Gene

• Entrez ID: 6748
• Gene name: Signal sequence receptor subunit 4
• Gene symbol: SSR4
• Synonyms (NCBI Gene): CDG1Y, TRAPD
• Chromosome: X
• Chromosome location: Xq28
• Summary: 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-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs606231298	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs794729223	AG>-	Pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1057518735	G>A	Pathogenic	Splice donor variant
rs1057518736	G>A	Pathogenic	Splice acceptor variant
rs1557072752	TAGACTCAGGAAATCACTCAGCCCTTTTGATCATCCCGCCCCTGCTCACAGTCAACAGGGTTCCTATGCGTCCAGTTAGGCCCGGCCATGGGGATCTGGCCTTGTGCCCCCGTAGGGAAGACCAATGCAGAGGGCCAGTCACGGGATTGGTGAGTGTTACTTGGTACCTCCTGCCAGGGACACTGCAGCCCCCAACTGGGCCTAGCCTGCCCACCTGCAGGCCGTGTGAGCAGCGCACAGGGCTCCTCTGCCCAC	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, initiator codon variant, coding sequence variant, 5 prime UTR variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043411	hsa-miR-331-3p	CLASH	23622248
MIRT1392762	hsa-miR-1207-5p	CLIP-seq
MIRT1392763	hsa-miR-1252	CLIP-seq
MIRT1392764	hsa-miR-342-5p	CLIP-seq
MIRT1392765	hsa-miR-4436b-3p	CLIP-seq
MIRT1392766	hsa-miR-4446-3p	CLIP-seq
MIRT1392767	hsa-miR-4492	CLIP-seq
MIRT1392768	hsa-miR-4498	CLIP-seq
MIRT1392769	hsa-miR-4505	CLIP-seq
MIRT1392770	hsa-miR-4651	CLIP-seq
MIRT1392771	hsa-miR-4664-5p	CLIP-seq
MIRT1392772	hsa-miR-4731-5p	CLIP-seq
MIRT1392773	hsa-miR-4763-3p	CLIP-seq
MIRT1392774	hsa-miR-608	CLIP-seq
MIRT1392775	hsa-miR-762	CLIP-seq
MIRT1392763	hsa-miR-1252	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005784	Component	Sec61 translocon complex	NAS	7492314, 9286695
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

Other IDs

• MIM: 300090
• HGNC: 11326
• e!Ensembl: ENSG00000180879

Protein

• UniProt ID: P51571
• Protein name: Translocon-associated protein subunit delta (TRAP-delta) (Signal sequence receptor subunit delta) (SSR-delta)
• Protein function: TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
• PDB: 8B6L
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05404	TRAP-delta	11 → 172	Translocon-associated protein, delta subunit precursor (TRAP-delta)	Family

• Sequence:

  MAAMASLGALALLLLSSLSRCSAEACLEPQITPSYYTTSDAVISTETVFIVEISLTCKNR
  VQNMALYADVGGKQFPVTRGQDVGRYQVSWSLDHKSAHAGTYEVRFFDEESYSLLRKAQR
  NNEDISIIPPLFTVSVDHRGTWNGPWVSTEVLAAAIGLVIYYLAFSAKSHIQA

• Sequence length: 173

Pathways

KEGG:

Protein processing in endoplasmic reticulum

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