TSPAN17 tetraspanin 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPAN17provided by HGNC
Official Full Name: tetraspanin 17provided by HGNC
Primary source: HGNC:HGNC:13594
See related: Ensembl:ENSG00000048140 MIM:620446; AllianceGenome:HGNC:13594
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: FBX23; FBXO23; TM4SF17
Summary: This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]
Expression: Ubiquitous expression in bone marrow (RPKM 17.7), testis (RPKM 13.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (176647484..176659051)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (177194072..177205640)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (176074485..176086052)

Chromosome 5 - NC_000005.10 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?

Data suggested that increased miR378a3p and decreased TSPAN17 levels were associated with improved survival in glioblastoma multiforme (GBM). Additionally, high levels of TSPAN17 were linked to the poor prognosis of patients with GBM aged 5060, larger tumor sizes and an advanced World Health Organization stage. TSPAN17 was identified and confirmed as a direct target of miR378a.
Title: miR‑378a‑3p inhibits cellular proliferation and migration in glioblastoma multiforme by targeting tetraspanin 17.
Endothelial Tspan5- and Tspan17-ADAM10 complexes may regulate inflammation by maintaining normal VE-cadherin expression and promoting T lymphocyte transmigration.
Title: ADAM10-Interacting Tetraspanins Tspan5 and Tspan17 Regulate VE-Cadherin Expression and Promote T Lymphocyte Transmigration.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

D5S1653E (e-PCR)
- UniSTS:69905

STS-R58948 (e-PCR)
- UniSTS:48027

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of protein localization to organelle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tetraspanin-17

Names: F-box only protein 23, transmembrane 4 superfamily member 17; tetraspan protein SB134

NP_001006617.2

EC 3.6.5.3

NP_001353420.1

EC 3.6.5.3

NP_001353421.1

EC 3.6.5.3

NP_036303.1

EC 3.6.5.3

NP_569732.2

EC 3.6.5.3

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

NG_034043.2 RefSeqGene

Range

5098..16665

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001006616.3 → NP_001006617.2 tetraspanin-17 isoform c

See identical proteins and their annotated locations for NP_001006617.2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, and an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (c) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC091934

Consensus CDS

CCDS47346.2

UniProtKB/Swiss-Prot

Q6NXF7, Q96FV3, Q96S98, Q9UKB9

Related

ENSP00000426650.1, ENST00000515708.5

Conserved Domains (1) summary

cd03159
Location:115 → 235

TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. 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 ...
NM_001366491.2 → NP_001353420.1 tetraspanin-17 isoform d

Status: VALIDATED

Source sequence(s)

AC091934, BF376733, DN998427

UniProtKB/TrEMBL

D6RDX8

Conserved Domains (1) summary

cd03159
Location:115 → 235

TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. 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 ...
NM_001366492.2 → NP_001353421.1 tetraspanin-17 isoform e

Status: VALIDATED

Source sequence(s)

AC091934, CB215495

UniProtKB/TrEMBL

D6RDX8

Conserved Domains (1) summary

cd03159
Location:49 → 169

TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. 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 ...
NM_012171.3 → NP_036303.1 tetraspanin-17 isoform a

See identical proteins and their annotated locations for NP_036303.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC091934

Consensus CDS

CCDS34298.1

UniProtKB/TrEMBL

D6RDX8, J3KNG2

Related

ENSP00000309036.8, ENST00000310032.12

Conserved Domains (2) summary

cd03159
Location:115 → 238

TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. 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 ...

pfam00335
Location:16 → 266

Tetraspannin; Tetraspanin family
NM_130465.5 → NP_569732.2 tetraspanin-17 isoform b

See identical proteins and their annotated locations for NP_569732.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.

Source sequence(s)

AC091934

Consensus CDS

CCDS54952.1

UniProtKB/TrEMBL

D6RDX8

Related

ENSP00000422053.1, ENST00000508164.6

Conserved Domains (1) summary

cd03159
Location:115 → 235

TM4SF9_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF9_like subfamily. 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 ...