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

Gene ID: 121665, updated on 22-Sep-2022

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 several processes, including T cell receptor signaling pathway; positive regulation of calcineurin-NFAT signaling cascade; and positive regulation of protein dephosphorylation. Located in Golgi-associated vesicle membrane; plasma membrane; and rough endoplasmic reticulum. 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, Apr 2022]
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
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120762510..120904358, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120751646..120893446, complement)
105.20220307 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 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

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

Homology

Clone Names

  • MGC90402, MGC126674, MGC126676, DKFZp586C1324

Gene Ontology Provided by GOA

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)

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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
    Q8TCT6, Q96DD9
    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 110 details...Open this link in a new tab

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

    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)