2. Gene
  3. STXBP5L - syntaxin binding protein 5L Gene

STXBP5L - syntaxin binding protein 5L Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as LLGL4

Gene ID: 9515 | Gene type: protein coding

About STXBP5L

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:120,908,205-121,424,761 (from NCBI)

This gene has 8 transcripts (splice variants), 223 orthologues and 3 paralogues. Biased expression in brain (RPKM 4.6), thyroid (RPKM 3.2) and 5 other tissues.

Summary

The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of Insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]

STXBP5L Products(5)

mRNA Protein Name
NM_001308330.2 NP_001295259.1 syntaxin-binding protein 5-like isoform 2
NM_001348343.2 NP_001335272.1 syntaxin-binding protein 5-like isoform 1
NM_001348344.2 NP_001335273.1 syntaxin-binding protein 5-like isoform 2
NM_001348345.2 NP_001335274.1 syntaxin-binding protein 5-like isoform 2
NM_014980.3 NP_055795.1 syntaxin-binding protein 5-like isoform 1

STXBP5L Protein Structure

WD40

WD40: WD domain, G-beta repeat (252 - 278)

LLGL

LLGL: LLGL2 (285 - 397)

WD40

WD40: WD domain, G-beta repeat (408 - 477)

Lgl_C

Lgl_C: Lethal giant larvae(Lgl) like, C-terminal (843 - 1056)

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  • 1186 a.a.
Protein Preferred Names Protein Names

syntaxin-binding protein 5-like

lethal(2) giant larvae protein homolog 4

Related Diseases

Diseases Alias
Hermansky-Pudlak Syndrome 9

HPS9

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 9

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS13994 STXBP5L Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus STXBP5L VGNC VGNC:65822
Canis familiaris STXBP5L VGNC VGNC:46964
Mus musculus STXBP5L MGD MGI:2443815
Macaca mulatta STXBP5L VGNC VGNC:78256
Bos taurus STXBP5L VGNC VGNC:35449
Rattus norvegicus STXBP5L RGD RGD:1311561