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    SPPL2B signal peptide peptidase like 2B [ Homo sapiens (human) ]

    Gene ID: 56928, updated on 23-May-2018
    Official Symbol
    SPPL2Bprovided by HGNC
    Official Full Name
    signal peptide peptidase like 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:30627
    See related
    Ensembl:ENSG00000005206 MIM:608239; Vega:OTTHUMG00000180443
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMP4; PSH4; PSL1; IMP-4
    Summary
    This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 13.2), duodenum (RPKM 10.9) and 25 other tissues See more
    Orthologs
    See SPPL2B in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (2328571..2355102)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2328629..2355100)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PEAK family member 3 Neighboring gene uncharacterized LOC101928572 Neighboring gene leucine rich repeat and Ig domain containing 3 Neighboring gene LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated Neighboring gene transmembrane serine protease 9 Neighboring gene origin of replication adjacent to lamin B2 Neighboring gene translocase of inner mitochondrial membrane 13 Neighboring gene lamin B2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
      Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
    • Regulation of TNFR1 signaling, organism-specific biosystem (from REACTOME)
      Regulation of TNFR1 signaling, organism-specific biosystemTumor necrosis factor-alpha (TNFalpha) is an inflammatory cytokine, that activates either cell survival (e.g.,inflammation, proliferation) or cell death upon association with TNF receptor 1 (TNFR1). ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • TNF signaling, organism-specific biosystem (from REACTOME)
      TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ99014, KIAA1532, MGC111084

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane protein intracellular domain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane protein intracellular domain 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 
    regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    signal peptide processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane 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 
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    centrosome IDA
    Inferred from Direct Assay
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    signal peptide peptidase-like 2B
    Names
    SPP-like 2B
    intramembrane protease 4
    presenilin homologous protein 4
    presenilin-like protein 1
    NP_001070706.1
    NP_694533.1
    XP_011526440.1
    XP_011526441.1
    XP_011526442.1
    XP_016882505.1
    XP_016882506.1
    XP_016882507.1
    XP_016882508.1
    XP_024307387.1

    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.

    Genomic

    1. NG_032984.1 RefSeqGene

      Range
      5001..31473
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077238.1NP_001070706.1  signal peptide peptidase-like 2B isoform 3 precursor

      See identical proteins and their annotated locations for NP_001070706.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 2, resulting in an early stop codon. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 2.
      Source sequence(s)
      AB040965, BC028391, BC093046, BU733058
      Consensus CDS
      CCDS74253.1
      UniProtKB/Swiss-Prot
      Q8TCT7
      Related
      ENSP00000478510.1, OTTHUMP00000276971, ENST00000610743.4, OTTHUMT00000473154
      Conserved Domains (2) summary
      cd02129
      Location:44163
      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 ...
      pfam04258
      Location:213505
      Peptidase_A22B; Signal peptide peptidase
    2. NM_152988.2NP_694533.1  signal peptide peptidase-like 2B isoform 2 precursor

      See identical proteins and their annotated locations for NP_694533.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the shorter transcript but encodes the longer isoform (2).
      Source sequence(s)
      AB040965, BC093046, BU733058
      Consensus CDS
      CCDS74252.1
      UniProtKB/Swiss-Prot
      Q8TCT7
      Related
      ENSP00000478298.1, OTTHUMP00000276968, ENST00000613503.4, OTTHUMT00000451378
      Conserved Domains (3) summary
      cd02129
      Location:44163
      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 ...
      pfam04258
      Location:213505
      Peptidase_A22B; Signal peptide peptidase
      cl25865
      Location:519591
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      2328571..2355102
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528138.2XP_011526440.1  signal peptide peptidase-like 2B isoform X1

      Conserved Domains (2) summary
      cd02129
      Location:71190
      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 ...
      pfam04258
      Location:239531
      Peptidase_A22B; Signal peptide peptidase
    2. XM_017027016.1XP_016882505.1  signal peptide peptidase-like 2B isoform X2

    3. XM_017027017.1XP_016882506.1  signal peptide peptidase-like 2B isoform X3

      Conserved Domains (1) summary
      pfam04258
      Location:82374
      Peptidase_A22B; Signal peptide peptidase
    4. XM_017027019.1XP_016882508.1  signal peptide peptidase-like 2B isoform X5

    5. XM_011528139.2XP_011526441.1  signal peptide peptidase-like 2B isoform X3

      Conserved Domains (1) summary
      pfam04258
      Location:82374
      Peptidase_A22B; Signal peptide peptidase
    6. XM_017027018.2XP_016882507.1  signal peptide peptidase-like 2B isoform X4

    7. XM_024451619.1XP_024307387.1  signal peptide peptidase-like 2B isoform X7

      Conserved Domains (2) summary
      pfam04258
      Location:86299
      Peptidase_A22B; Signal peptide peptidase
      cl25865
      Location:295385
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)
    8. XM_011528140.1XP_011526442.1  signal peptide peptidase-like 2B isoform X6

      Conserved Domains (1) summary
      pfam04258
      Location:11303
      Peptidase_A22B; Signal peptide peptidase

    RNA

    1. XR_001753721.1 RNA Sequence

    2. XR_001753720.2 RNA Sequence

    3. XR_002958334.1 RNA Sequence

    4. XR_001753719.1 RNA Sequence

    5. XR_001753722.1 RNA Sequence

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