Format

Send to:

Choose Destination

SPPL2C signal peptide peptidase like 2C [ Homo sapiens (human) ]

Gene ID: 162540, updated on 5-Jan-2022

Summary

Official Symbol
SPPL2Cprovided by HGNC
Official Full Name
signal peptide peptidase like 2Cprovided by HGNC
Primary source
HGNC:HGNC:28902
See related
Ensembl:ENSG00000185294 MIM:608284
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMP5
Summary
Enables protein homodimerization activity. Predicted to be involved in membrane protein proteolysis. Located in endoplasmic reticulum membrane. Is integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2021]
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SPPL2C in Genome Data Viewer
Location:
17q21.31
Exon count:
1
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (45844881..45847067)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (43922247..43924433)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene LINC02210-CRHR1 readthrough Neighboring gene uncharacterized LOC107985028 Neighboring gene corticotropin releasing hormone receptor 1 Neighboring gene MAPT antisense RNA 1 Neighboring gene MAPT intronic transcript 1 Neighboring gene uncharacterized LOC105371800 Neighboring gene microtubule associated protein tau

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.
GeneReviews: Not available
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
GeneReviews: Not available
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic endopeptidase activity, intramembrane cleaving IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
NOT involved_in membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in membrane protein intracellular domain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane protein proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
signal peptide peptidase-like 2C
Names
IMP-5
SPP-like 2C
intramembrane protease 5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_175882.3NP_787078.2  signal peptide peptidase-like 2C precursor

    See identical proteins and their annotated locations for NP_787078.2

    Status: VALIDATED

    Source sequence(s)
    AC217771
    Consensus CDS
    CCDS32673.1
    UniProtKB/Swiss-Prot
    Q8IUH8
    Related
    ENSP00000332488.5, ENST00000329196.7
    Conserved Domains (2) summary
    smart00730
    Location:247519
    PSN; Presenilin, signal peptide peptidase, family
    cd02129
    Location:38175
    PA_hSPPL_like; PA_hSPPL_like: Protease-associated domain containing human signal peptide peptidase-like (hSPPL)-like. This group contains various PA domain-containing proteins similar to hSPPL2a and 2b. These SPPLs are GxGD aspartic proteases. SPPL2a is sorted to the ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    45844881..45847067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167251.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    941114..943300 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187663.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    547002..549188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center