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

Gene ID: 121665, updated on 12-Oct-2019

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
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
Expression
Ubiquitous expression in skin (RPKM 21.6), testis (RPKM 17.3) and 25 other tissues See more
Orthologs

Genomic context

See SPPL3 in Genome Data Viewer
Location:
12q24.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (120762510..120904358, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121200313..121342155, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene unc-119 lipid binding chaperone B Neighboring gene microRNA 4700 Neighboring gene acyl-CoA dehydrogenase short chain Neighboring gene ADP ribosylation factor 1 pseudogene 2 Neighboring gene uncharacterized LOC105500240 Neighboring gene chloride intracellular channel 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC90402, MGC126674, MGC126676, DKFZp586C1324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic endopeptidase activity, intramembrane cleaving IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartic endopeptidase activity, intramembrane cleaving IDA
Inferred from Direct Assay
more info
PubMed 
aspartic endopeptidase activity, intramembrane cleaving IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
T cell receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane protein proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane protein proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of calcineurin-NFAT signaling cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytosolic calcium ion concentration ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein dephosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal peptide processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Golgi-associated vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi-associated vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of cytoplasmic side of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of cytoplasmic side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of lumenal side of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of lumenal side of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 

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

NCBI Reference Sequences (RefSeq)

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
    Q8TCT6
    UniProtKB/TrEMBL
    Q9UG23
    Related
    ENSP00000288680.4, ENST00000353487.7
    Conserved Domains (1) summary
    pfam04258
    Location:61374
    Peptidase_A22B; Signal peptide peptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011537925.2XP_011536227.1  signal peptide peptidase-like 3 isoform X1

    Conserved Domains (1) summary
    pfam04258
    Location:61374
    Peptidase_A22B; Signal peptide peptidase
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