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HM13 histocompatibility minor 13 [ Homo sapiens (human) ]

Gene ID: 81502, updated on 6-May-2021

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
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Genomic context

See HM13 in Genome Data Viewer
Location:
20q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31514442..31569543)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30102245..30157346)

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 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

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)

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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

  1. NG_051619.2 RefSeqGene

    Range
    5033..60134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1106

mRNA and Protein(s)

  1. NM_030789.4NP_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
    Q8TCT9
    UniProtKB/TrEMBL
    A0A0S2Z5V7
    Related
    ENSP00000343032.5, ENST00000340852.9
    Conserved Domains (1) summary
    pfam04258
    Location:63350
    Peptidase_A22B; Signal peptide peptidase
  2. NM_178580.3NP_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/Swiss-Prot
    Q8TCT9
    Related
    ENSP00000501423.1, ENST00000674240.1
    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, ENST00000398174.9
    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 109.20210226

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
    31514442..31569543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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