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SPPL3 signal peptide peptidase like 3 [ Homo sapiens (human) ]

Gene ID: 121665, updated on 10-Dec-2024

Summary

Official Symbol
SPPL3provided by HGNC
Official Full Name
signal peptide peptidase like 3provided by HGNC
Primary source
HGNC:HGNC:30424
See related
Ensembl:ENSG00000157837 MIM:608240; AllianceGenome:HGNC:30424
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
IMP2; PSH1; PSL4; PRO4332; MDHV1887
Summary
Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in T cell receptor signaling pathway; membrane protein proteolysis; and positive regulation of calcineurin-NFAT signaling cascade. Located in Golgi-associated vesicle membrane; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in skin (RPKM 21.6), testis (RPKM 17.3) and 25 other tissues See more
Orthologs
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Genomic context

See SPPL3 in Genome Data Viewer
Location:
12q24.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120762510..120904358, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120751646..120893446, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121200313..121342161, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene unc-119 lipid binding chaperone B Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:121163301-121163802 Neighboring gene microRNA 4700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121176341-121177046 Neighboring gene acyl-CoA dehydrogenase short chain Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121185508-121185723 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:121200901-121201064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:121209105-121209605 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:121220845-121222044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7150 Neighboring gene ARF GTPase 1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4969 Neighboring gene uncharacterized LOC105500240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7151 Neighboring gene chloride intracellular channel 1 pseudogene 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC90402, MGC126674, MGC126676, DKFZp586C1324

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT involved_in membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane protein proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in membrane protein proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in signal peptide processing IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
signal peptide peptidase-like 3
Names
SPP-like 3
intramembrane protease 2
presenilin homologous protein 1
presenilin-like protein 4
NP_620584.2
XP_011536227.1
XP_054227100.1
XP_054227101.1
XP_054227102.1

NCBI Reference Sequences (RefSeq)

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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_139015.5NP_620584.2  signal peptide peptidase-like 3

    See identical proteins and their annotated locations for NP_620584.2

    Status: VALIDATED

    Source sequence(s)
    AC069214, AC069234
    Consensus CDS
    CCDS9208.1
    UniProtKB/Swiss-Prot
    Q3MJ04, Q8TAU4, Q8TCT6, Q96DD9
    UniProtKB/TrEMBL
    Q53EP9
    Related
    ENSP00000288680.4, ENST00000353487.7
    Conserved Domains (1) summary
    pfam04258
    Location:61374
    Peptidase_A22B; Signal peptide peptidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    120762510..120904358 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537925.3XP_011536227.1  signal peptide peptidase-like 3 isoform X1

    UniProtKB/TrEMBL
    Q53EP9
    Conserved Domains (1) summary
    pfam04258
    Location:61374
    Peptidase_A22B; Signal peptide peptidase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    120751646..120893446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371127.1XP_054227102.1  signal peptide peptidase-like 3 isoform X3

    UniProtKB/TrEMBL
    A8K546
  2. XM_054371126.1XP_054227101.1  signal peptide peptidase-like 3 isoform X1

    UniProtKB/TrEMBL
    Q53EP9
  3. XM_054371125.1XP_054227100.1  signal peptide peptidase-like 3 isoform X2

    UniProtKB/TrEMBL
    Q53EP9