U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    HM13 histocompatibility minor 13 [ Homo sapiens (human) ]

    Gene ID: 81502, updated on 10-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HM13 in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene tRNA-Ser (anticodon AGA) 7-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12757 Neighboring gene CD24 molecule pseudogene 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:30134937-30136136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30137639-30138140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30138141-30138640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30142553-30143052 Neighboring gene MCTS family member 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:30148388-30149587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30153591-30154466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:30154467-30155342 Neighboring gene Sharpr-MPRA regulatory region 9809 Neighboring gene HM13 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30160423-30160964 Neighboring gene uncharacterized LOC107985416 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30162848-30163017 Neighboring gene RNA, U6 small nuclear 384, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    Pathways from PubChem

    Interactions

    General gene information

    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)

    NEW Try the new Transcript table

    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_030789.4 → 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
    2. 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
    3. 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
    4. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      33238668..33293768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Loading
    External link. Please review our privacy policy.