SBSN suprabasin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SBSNprovided by HGNC
Official Full Name: suprabasinprovided by HGNC
Primary source: HGNC:HGNC:24950
See related: Ensembl:ENSG00000189001 MIM:609969; AllianceGenome:HGNC:24950
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: UNQ698
Summary: Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward skin (RPKM 753.6) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (35523367..35528311, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (38068100..38074890, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (36014269..36019213, complement)

Chromosome 19 - NC_000019.10 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?

Extracellular vesicles-transferred SBSN drives glioma aggressiveness by activating NF-kappaB via ANXA1-dependent ubiquitination of NEMO.
Title: Extracellular vesicles-transferred SBSN drives glioma aggressiveness by activating NF-κB via ANXA1-dependent ubiquitination of NEMO.
Suprabasin: Role in human cancers and other diseases.
Title: Suprabasin: Role in human cancers and other diseases.
Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes.
Title: Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes.
Suprabasin-A Review.
Title: Suprabasin-A Review.
SBSN expression was observed in human clinical specimens of colon and ovarian carcinomas, as well as in circulating tumour cells and metastases of the 4T1 mouse model. The association of SBSN expression with progressive stages of cancer development indicates its role in cancer evolution and therapy resistance.
Title: Interferon-regulated suprabasin is essential for stress-induced stem-like cell conversion and therapy resistance of human malignancies.
Epidermal SBSN expression was decreased in atopic dermatitis (AD) lesional skin compared to healthy skin. The SBSN serum levels were significantly lower in AD patients than in normal subjects. Study results suggested that SBSN regulates normal epidermal barrierand has an anti-apoptotic activity, and its deficiency is involved in the pathogenesis of AD.
Title: Decreased expression of suprabasin induces aberrant differentiation and apoptosis of epidermal keratinocytes: Possible role for atopic dermatitis.
SCARA5 and SBSN shown to have modest effects on cell proliferation or collagen gel contraction and maybe associated with peripheral vein graft patency.
Title: Scavenger receptor class A member 5 (SCARA5) and suprabasin (SBSN) are hub genes of coexpression network modules associated with peripheral vein graft patency.
we demonstrated that upregulation of suprabasin activated the Wnt/b-catenin signaling pathway and led to nuclear localization of b-catenin and upregulation of Cyclin D1 and c-Myc. Together, our results suggest that suprabasin plays an important oncogenic role in promoting proliferation and tumorigenesis of esophageal squamous cell carcinoma .
Title: Overexpression of Suprabasin is Associated with Proliferation and Tumorigenicity of Esophageal Squamous Cell Carcinoma.
Findings suggest that SBSN is involved in the angiogenic potential of tumor endothelial cells (TEC) and may be a novel TEC marker.
Title: Suprabasin as a novel tumor endothelial cell marker.
These results support suprabasin as novel oncogene candidate in salivary gland adenoid cystic carcinoma.
Title: Suprabasin is hypomethylated and associated with metastasis in salivary adenoid cystic carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: suprabasin

Names: HLAR698

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_001166034.2 → NP_001159506.1 suprabasin isoform 1 precursor

See identical proteins and their annotated locations for NP_001159506.1

Status: VALIDATED

Description

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

Source sequence(s)

AY358701, BF838582, BX648076, CU448844

Consensus CDS

CCDS54253.1

UniProtKB/Swiss-Prot

A8K5J0, E9PBV3, Q6UWP8

Related

ENSP00000430242.1, ENST00000452271.7

Conserved Domains (1) summary

pfam03157
Location:146 → 522

Glutenin_hmw; High molecular weight glutenin subunit
NM_001166035.2 → NP_001159507.1 suprabasin isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.

Source sequence(s)

AA055367, AY358701, BC063640

UniProtKB/TrEMBL

K7ESC4

Related

ENSP00000468646.2, ENST00000588674.5
NM_198538.4 → NP_940940.1 suprabasin isoform 2 precursor

See identical proteins and their annotated locations for NP_940940.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AY358701, BC063640

Consensus CDS

CCDS12464.1

UniProtKB/Swiss-Prot

Q6UWP8

Related

ENSP00000428771.1, ENST00000518157.1

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

35523367..35528311 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011526930.3 → XP_011525232.1 suprabasin isoform X2

Conserved Domains (1) summary

pfam03157
Location:109 → 504

Glutenin_hmw; High molecular weight glutenin subunit
XM_011526931.3 → XP_011525233.1 suprabasin isoform X3

Conserved Domains (1) summary

pfam09606
Location:96 → 538

Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
XM_011526929.3 → XP_011525231.1 suprabasin isoform X1

Conserved Domains (1) summary

pfam03157
Location:104 → 515

Glutenin_hmw; High molecular weight glutenin subunit