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HM13 histocompatibility minor 13 [ Homo sapiens (human) ]

Gene ID: 81502, updated on 20-Dec-2019

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
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

Genomic context

See HM13 in Genome Data Viewer
Location:
20q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31514410..31569567)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30102213..30158178)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene tRNA-Ser (anticodon AGA) 7-1 Neighboring gene CD24 molecule pseudogene 3 Neighboring gene MCTS family member 2, pseudogene Neighboring gene HM13 antisense RNA 1 Neighboring gene translation initiation factor IF-2-like Neighboring gene RNA, U6 small nuclear 384, pseudogene

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?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
NOT membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT 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 
membrane protein proteolysis involved in retrograde protein transport, ER to cytosol 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
Derlin-1 retrotranslocation complex IDA
Inferred from Direct Assay
more info
PubMed 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IC
Inferred by Curator
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 
membrane HDA PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_848695.1
NP_848696.1
NP_848697.1

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.

Genomic

  1. NG_051619.2 RefSeqGene

    Range
    5001..60158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030789.3NP_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)
    AJ345029, BC062595, BI552780, DA087240
    Consensus CDS
    CCDS13182.1
    UniProtKB/Swiss-Prot
    Q8TCT9
    UniProtKB/TrEMBL
    A0A0S2Z5V7
    Related
    ENSP00000343032.5, ENST00000340852.9
    Conserved Domains (1) summary
    pfam04258
    Location:63350
    Peptidase_A22B; Signal peptide peptidase
  2. NM_178580.2NP_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)
    AL110115, BI552780, DA087240, DQ168450
    Consensus CDS
    CCDS13183.1
    UniProtKB/Swiss-Prot
    Q8TCT9
    Related
    ENSP00000335294.5, ENST00000335574.9
    Conserved Domains (1) summary
    pfam04258
    Location:63350
    Peptidase_A22B; Signal peptide peptidase
  3. NM_178581.3NP_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/Swiss-Prot
    Q8TCT9
    Related
    ENSP00000381237.3, ENST00000398174.8
    Conserved Domains (1) summary
    pfam04258
    Location:63350
    Peptidase_A22B; Signal peptide peptidase
  4. NM_178582.3NP_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/Swiss-Prot
    Q8TCT9
    UniProtKB/TrEMBL
    A0A0C4DGU3
    Related
    ENSP00000479020.1, ENST00000498035.5
    Conserved Domains (1) summary
    cl01342
    Location:63123
    Peptidase_A22B; Signal peptide peptidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    31514410..31569567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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