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    TSPAN33 tetraspanin 33 [ Homo sapiens (human) ]

    Gene ID: 340348, updated on 28-Oct-2024

    Summary

    Official Symbol
    TSPAN33provided by HGNC
    Official Full Name
    tetraspanin 33provided by HGNC
    Primary source
    HGNC:HGNC:28743
    See related
    Ensembl:ENSG00000158457 MIM:610120; AllianceGenome:HGNC:28743
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEN; PEN.; TSPAN-33
    Summary
    Enables enzyme binding activity. Involved in pore complex assembly; protein localization to plasma membrane; and protein maturation. Located in plasma membrane. Part of pore complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 45.5), lymph node (RPKM 15.7) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TSPAN33 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (129144707..129169699)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130457613..130482604)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128784712..128809540)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128767334-128767834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26623 Neighboring gene mitogen-activated protein kinase kinase 2 pseudogene Neighboring gene CYCS pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128789516-128790112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128790113-128790709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18624 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128809737-128810606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26625 Neighboring gene RNY1 pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18626 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:128856579-128857167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26627 Neighboring gene Sharpr-MPRA regulatory region 13971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18628 Neighboring gene smoothened, frizzled class receptor Neighboring gene adenosylhomocysteinase like 2 Neighboring gene Sharpr-MPRA regulatory region 5606 Neighboring gene uncharacterized LOC124900234 Neighboring gene MPRA-validated peak6717 silencer

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC50844

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of pore complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in tetraspanin-enriched microdomain IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    tetraspanin-33
    Names
    penumbra
    proerythroblast new membrane

    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.

    mRNA and Protein(s)

    1. NM_178562.5NP_848657.1  tetraspanin-33

      See identical proteins and their annotated locations for NP_848657.1

      Status: VALIDATED

      Source sequence(s)
      ABBA01057643, AC011005, AW089489, BC044244, HY012137
      Consensus CDS
      CCDS5810.1
      UniProtKB/Swiss-Prot
      Q86UF1
      Related
      ENSP00000483872.1, ENST00000486685.3
      Conserved Domains (1) summary
      cd03158
      Location:116236
      penumbra_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), penumbra_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      129144707..129169699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715960.4XP_006716023.1  tetraspanin-33 isoform X1

      See identical proteins and their annotated locations for XP_006716023.1

      Conserved Domains (1) summary
      cd03158
      Location:115235
      penumbra_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), penumbra_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130457613..130482604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358105.1XP_054214080.1  tetraspanin-33 isoform X1