TSPAN33 tetraspanin 33 [Homo sapiens (human)] - Gene

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, Dec 2024]
Expression: Broad expression in kidney (RPKM 45.5), lymph node (RPKM 15.7) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

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_000007.14 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
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?

Tetraspanin 33 (TSPAN33) regulates endocytosis and migration of human B lymphocytes by affecting the tension of the plasma membrane.
Title: Tetraspanin 33 (TSPAN33) regulates endocytosis and migration of human B lymphocytes by affecting the tension of the plasma membrane.
Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33.
Title: Cooperative binding of the tandem WW domains of PLEKHA7 to PDZD11 promotes conformation-dependent interaction with tetraspanin 33.
The results suggest that TSPAN33 represents a new control element in the development of inflammation by macrophages that could constitute a potential therapeutic target.
Title: The Tetraspanin TSPAN33 Controls TLR-Triggered Macrophage Activation through Modulation of NOTCH Signaling.
Data show that tetraspanin 33 (tspan33) is an early activation marker, and that disintegrin and metalloproteinase domain-containing protein 10 (ADAM10) protein expression does not correlate with Tspan33 expression in B cells.
Title: Tspan33 is Expressed in Transitional and Memory B Cells, but is not Responsible for High ADAM10 Expression.
TSPAN33 is overexpressed in activated and malignant B cells.
Title: TSPAN33 is a novel marker of activated and malignant B cells.

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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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2797 (e-PCR)
- UniSTS:64054

D7S2096E (e-PCR)
- UniSTS:58866

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

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Preferred Names: tetraspanin-33

Names: penumbra; proerythroblast new membrane

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.

mRNA and Protein(s)

NM_178562.5 → NP_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:116 → 236

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

129144707..129169699

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_006716023.1

Conserved Domains (1) summary

cd03158
Location:115 → 235

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 ...