H13 histocompatibility 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H13provided by MGI
Official Full Name: histocompatibility 13provided by MGI
Primary source: MGI:MGI:95886
See related: Ensembl:ENSMUSG00000019188 AllianceGenome:MGI:95886
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Spp; H-13; Hm13; PSL3; 1200006O09Rik; 4930443L17Rik; 5031424B04Rik
Summary: Predicted to enable aspartic endopeptidase activity, intramembrane cleaving; protein homodimerization activity; and ubiquitin protein ligase binding activity. Acts upstream of or within in utero embryonic development. Located in cell surface and endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; embryo ectoderm; extraembryonic component; and musculoskeletal system. Orthologous to human HM13 (histocompatibility minor 13). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 32.1), ovary adult (RPKM 28.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 75.41 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (152511292..152550590)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (152669422..152708668)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

silencing of SPP and its family member SPPL2a led to a general reduction of surface peptide-MHC-I complexes, underlining the involvement of these enzymes in Ag processing and presentation.
Title: New role of signal peptide peptidase to liberate C-terminal peptides for MHC class I presentation.
Results show that two genetic systems show that alleles lacking methylation generate truncated H13 transcripts that undergo internal polyadenylation.
Title: Regulation of alternative polyadenylation by genomic imprinting.
new splice variant,signal peptide peptidase (SPP)beta, with an additional in-frame exon inserted between exons 11 and 12 of SPPalpha
Title: Cell-surface expression of a new splice variant of the mouse signal peptide peptidase.
widespread expression of SPP in many tissues; a distinct pattern of expression in the mature murine brain and during development indicates that SPP plays an important role in the establishment and maintenance of the nervous system
Title: Expression of the presenilin-like signal peptide peptidase (SPP) in mouse adult brain and during development.
A single minor histocompatibility antigen mismatch at the polymorphic H13 allele plays a role in chronic allograft rejection of solid organs such as obliterative airway disease development following murine tracheal transplantation.
Title: Induction of obliterative airway disease in murine tracheal allografts by CD8+ CTLs recognizing a single minor histocompatibility antigen.
structural analysis of H13 peptides lacking MHC binding anchor motifs determines self-nonself discrimination
Title: How H13 histocompatibility peptides differing by a single methyl group and lacking conventional MHC binding anchor motifs determine self-nonself discrimination.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH135106 (e-PCR)
- UniSTS:218383

AV020344 (e-PCR)
- UniSTS:165221

H13 (e-PCR), detects polymorphism
- UniSTS:143287

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic endopeptidase activity, intramembrane cleaving	ISO Inferred from Sequence Orthology more info
enables aspartic endopeptidase activity, intramembrane cleaving	ISS Inferred from Sequence or Structural Similarity more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within in utero embryonic development	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	ISO Inferred from Sequence Orthology more info
involved_in membrane protein proteolysis	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IEA Inferred from Electronic Annotation more info
involved_in membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	ISO Inferred from Sequence Orthology more info
involved_in signal peptide processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	IEA Inferred from Electronic Annotation more info
part_of Derlin-1 retrotranslocation complex	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasmic side of endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic side of endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in lumenal side of endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lumenal side of endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in lumenal side of endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in rough endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in rough endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: minor histocompatibility antigen H13

Names: presenilin-like aspartyl protease; presenilin-like protein 3; signal peptide peptidase beta

NP_001153023.1

EC 3.4.99.-

NP_001153024.1

EC 3.4.99.-

NP_001153025.1

EC 3.4.99.-

NP_034506.1

EC 3.4.99.-

XP_006498846.1

EC 3.4.99.-

XP_017171155.1

EC 3.4.99.-

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)

NM_001159551.2 → NP_001153023.1 minor histocompatibility antigen H13 isoform 1

See identical proteins and their annotated locations for NP_001153023.1

Status: VALIDATED

Source sequence(s)

AL845162

Consensus CDS

CCDS50752.1

UniProtKB/TrEMBL

A3KGR9

Related

ENSMUSP00000086460.3, ENSMUST00000089059.9

Conserved Domains (1) summary

pfam04258
Location:62 → 350

Peptidase_A22B; Signal peptide peptidase
NM_001159552.2 → NP_001153024.1 minor histocompatibility antigen H13 isoform 3

See identical proteins and their annotated locations for NP_001153024.1

Status: VALIDATED

Source sequence(s)

AL845162

Consensus CDS

CCDS50753.1

UniProtKB/TrEMBL

Q6PGJ8, Q8HWB1

Related

ENSMUSP00000105450.2, ENSMUST00000109825.8

Conserved Domains (1) summary

cl01342
Location:62 → 145

Peptidase_A22B; Signal peptide peptidase
NM_001159553.2 → NP_001153025.1 minor histocompatibility antigen H13 isoform 4

See identical proteins and their annotated locations for NP_001153025.1

Status: VALIDATED

Source sequence(s)

AL845162

UniProtKB/Swiss-Prot

Q9D8V0

Conserved Domains (1) summary

cl01342
Location:62 → 123

Peptidase_A22B; Signal peptide peptidase
NM_010376.5 → NP_034506.1 minor histocompatibility antigen H13 isoform 2

See identical proteins and their annotated locations for NP_034506.1

Status: VALIDATED

Source sequence(s)

AL845162

Consensus CDS

CCDS16896.1

UniProtKB/Swiss-Prot

A3KGS1, O19444, Q15K37, Q3TXP0, Q542R3, Q811Z6, Q8HWA9, Q8HWB5, Q9CQA4, Q9CSK9, Q9D8V0

UniProtKB/TrEMBL

A3KGR9

Related

ENSMUSP00000120068.2, ENSMUST00000125366.8

Conserved Domains (1) summary

pfam04258
Location:62 → 350

Peptidase_A22B; Signal peptide peptidase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

152511292..152550590

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498783.5 → XP_006498846.1 minor histocompatibility antigen H13 isoform X2

UniProtKB/TrEMBL

A3KGR9

Related

ENSMUSP00000078236.4, ENSMUST00000079247.4

Conserved Domains (1) summary

pfam04258
Location:62 → 350

Peptidase_A22B; Signal peptide peptidase
XM_017315666.3 → XP_017171155.1 minor histocompatibility antigen H13 isoform X1

Conserved Domains (1) summary

cl01342
Location:50 → 157

Peptidase_A22B; Signal peptide peptidase