HM13 histocompatibility minor 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HM13provided by HGNC
Official Full Name: histocompatibility minor 13provided by HGNC
Primary source: HGNC:HGNC:16435
See related: Ensembl:ENSG00000101294 MIM:607106; AllianceGenome:HGNC:16435
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: H13; SPP; IMP1; PSL3; IMPAS; SPPL1; PSENL3; IMPAS-1; MSTP086
Summary: The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 25.2), salivary gland (RPKM 22.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (31514442..31569543)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33238668..33293768)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30102245..30157346)

Chromosome 20 - NC_000020.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Intramembrane protease SPP defines a cholesterol-regulated abundance control of the mevalonate pathway enzyme squalene synthase.
Title: Intramembrane protease SPP defines a cholesterol-regulated abundance control of the mevalonate pathway enzyme squalene synthase.
The role of SPP/SPPL intramembrane proteases in membrane protein homeostasis.
Title: The role of SPP/SPPL intramembrane proteases in membrane protein homeostasis.
Histocompatibility Minor 13 (HM13), targeted by miR-760, exerts oncogenic role in breast cancer by suppressing autophagy and activating PI3K-AKT-mTOR pathway.
Title: Histocompatibility Minor 13 (HM13), targeted by miR-760, exerts oncogenic role in breast cancer by suppressing autophagy and activating PI3K-AKT-mTOR pathway.
Study demonstrates that SPP is highly induced in lung and breast cancers and promotes tumor progression, at least in part, by facilitating the degradation of mTOR inhibitor FKBP8.
Title: Signal peptide peptidase promotes tumor progression via facilitating FKBP8 degradation.
Preproinsulin signal peptide epitopes are processed by SPP and loaded for HLA-guided immune recognition via pathways that are enhanced during type 1 diabetes pathogenesis.
Title: Molecular Pathways for Immune Recognition of Preproinsulin Signal Peptide in Type 1 Diabetes.
Though far from complete, our knowledge on pathophysiological functions of SPP/SPPL proteases, in particular based on studies in mice, has been significantly increased over the last years. Based on this, inhibition of distinct SPP/SPPL proteases has been proposed as a novel therapeutic concept e.g. for the treatment of autoimmunity and viral or protozoal infections, as we will discuss in this review.
Title: Signal peptide peptidase and SPP-like proteases - Possible therapeutic targets?
The domains involved in HO-1 translocation have been identified, and it was shown that SPP-mediated HO-1 cleavage is isoform-specific (HO-1 vs HO-2) and independent of heme oxygenase activity.
Title: Insights into the mechanism of isoenzyme-specific signal peptide peptidase-mediated translocation of heme oxygenase.
This study identifies that SPP affects EGFRvIII secretion profiles and thus promotes tumor progression, providing further understanding of the formation of secreted vesicles and driving role of EGFRvIII in Glioblastoma.
Title: Signal Peptide Peptidase, Encoded by HM13, Contributes to Tumor Progression by Affecting EGFRvIII Secretion Profiles in Glioblastoma.
structure of human SPP [SPP]
Title: Three-dimensional structure of the signal peptide peptidase.
Compares a variant from the mouse ortholog to the human gene.
Title: Cell-surface expression of a new splice variant of the mouse signal peptide peptidase.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with HM13; predicted interaction to be involved in antigenicity/immunity	PubMed
	env	HIV-1 gp160 is identified to have a physical interaction with histocompatibility (minor) 13 (HM13) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79806 (e-PCR)
- UniSTS:92165

G54135 (e-PCR)
- UniSTS:109372

RH103275 (e-PCR)
- UniSTS:97607

D1S1423 (e-PCR)
- UniSTS:149619

D11S3114 (e-PCR)
- UniSTS:152207

D1S3693 (e-PCR)
- UniSTS:474271

STS-D29243 (e-PCR)
- UniSTS:16344

ECD04345 (e-PCR)
- UniSTS:285422

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed
enables aspartic endopeptidase activity, intramembrane cleaving	IMP Inferred from Mutant Phenotype more info	PubMed
enables aspartic endopeptidase activity, intramembrane cleaving	TAS Traceable Author Statement more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to oxidative stress	TAS Traceable Author Statement more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
NOT involved_in membrane protein ectodomain proteolysis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in membrane protein intracellular domain 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 membrane protein proteolysis involved in retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal peptide processing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: minor histocompatibility antigen H13

Names: intramembrane protease 1; minor histocompatibility antigen 13; presenilin-like protein 3; signal peptide peptidase beta; signal peptide peptidase like 1

NP_110416.1

EC 3.4.23.-

NP_848695.1

EC 3.4.23.-

NP_848696.1

EC 3.4.23.-

NP_848697.1

EC 3.4.23.-

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.

Genomic

NG_051619.2 RefSeqGene

Range

5033..60134

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1106

mRNA and Protein(s)

NM_030789.4 → NP_110416.1 minor histocompatibility antigen H13 isoform 1

See identical proteins and their annotated locations for NP_110416.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (1).

Source sequence(s)

BC062595, BI552780

Consensus CDS

CCDS13182.1

UniProtKB/Swiss-Prot

B2RAY5, E1P5L3, Q15K36, Q540H8, Q5JWP2, Q5JWP3, Q5JWP4, Q5JWP5, Q7Z4F2, Q86Y35, Q8TCT9, Q95H87, Q9H110, Q9H111

UniProtKB/TrEMBL

A0A0S2Z5V7, A0A3B3IUB5

Related

ENSP00000343032.5, ENST00000340852.9

Conserved Domains (1) summary

pfam04258
Location:63 → 350

Peptidase_A22B; Signal peptide peptidase
NM_178580.3 → NP_848695.1 minor histocompatibility antigen H13 isoform 2

See identical proteins and their annotated locations for NP_848695.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is longer and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

BI552780, DQ168450

Consensus CDS

CCDS13183.1

UniProtKB/TrEMBL

A0A3B3IUB5

Related

ENSP00000501423.1, ENST00000674240.1

Conserved Domains (1) summary

pfam04258
Location:63 → 350

Peptidase_A22B; Signal peptide peptidase
NM_178581.3 → NP_848696.1 minor histocompatibility antigen H13 isoform 3

See identical proteins and their annotated locations for NP_848696.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate in-frame exon compared to variant 1, resulting in an isoform (3) which is longer compared to isoform 1.

Source sequence(s)

AL110115, AY169312, BI552780

Consensus CDS

CCDS42861.1

UniProtKB/TrEMBL

A0A3B3IUB5

Related

ENSP00000381237.3, ENST00000398174.9

Conserved Domains (1) summary

pfam04258
Location:63 → 350

Peptidase_A22B; Signal peptide peptidase
NM_178582.3 → NP_848697.1 minor histocompatibility antigen H13 isoform 4

See identical proteins and their annotated locations for NP_848697.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK074686, AL110115, BI552780, BQ707066, BQ890506, BU155406, KF456879

UniProtKB/TrEMBL

A0A0C4DGU3

Related

ENSP00000479020.1, ENST00000498035.5

Conserved Domains (1) summary

cl01342
Location:63 → 123

Peptidase_A22B; Signal peptide peptidase