Gene Gene information from NCBI Gene database.
Entrez ID 28972
Gene name Signal peptidase complex subunit 1
Gene symbol SPCS1
Synonyms (NCBI Gene)
HSPC033SPC1SPC12YJR010C-A
Chromosome 3
Chromosome location 3p21.1
miRNA miRNA information provided by mirtarbase database.
131
miRTarBase ID miRNA Experiments Reference
MIRT020721 hsa-miR-155-5p Proteomics 18668040
MIRT641713 hsa-miR-106a-5p HITS-CLIP 23824327
MIRT641712 hsa-miR-106b-5p HITS-CLIP 23824327
MIRT641711 hsa-miR-17-5p HITS-CLIP 23824327
MIRT641710 hsa-miR-20a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24009510, 29593046, 34388369
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005787 Component Signal peptidase complex IBA
GO:0005787 Component Signal peptidase complex IEA
GO:0005787 Component Signal peptidase complex IPI 34388369
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610358 23401 ENSG00000114902
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6A9
Protein name Signal peptidase complex subunit 1 (Microsomal signal peptidase 12 kDa subunit) (SPase 12 kDa subunit)
Protein function Component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (PubMed:34388369). Dispensable for SPC enzymat
PDB 7P2P , 7P2Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06645 SPC12 12 82 Microsomal signal peptidase 12 kDa subunit (SPC12) Family
Sequence
MARGGDTGCTGPSETSASGAAAIALPGLEGPATDAQCQTLPLTVLKSRSPSPRSLPPALS
CPPPQPAMLEHLSSLPTQMDYK
GQKLAEQMFQGIILFSAIVGFIYGYVAEQFGWTVYIVM
AGFAFSCLLTLPPWPIYRRHPLKWLPVQESSTDDKKPGERKIKRHAKNN
Sequence length 169
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein export   Synthesis, secretion, and deacylation of Ghrelin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder GWASDB_DG 22182935
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 24886551
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASDB_DG 22472876
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 35192775 Associate
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Osteoarthritis Pubtator 24886551 Associate
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Knee Osteoarthritis Pubtator 29942097 Associate
★☆☆☆☆
Found in Text Mining only
Osteoarthritis, Knee Knee osteoarthritis BEFREE 29942097
★☆☆☆☆
Found in Text Mining only