STXBP5L
Syntaxin-binding protein 5-like
Also known as: KIAA1006, LLGL4, STB5L_HUMAN, tomosyn-2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y2K9
- Gene
- STXBP5L
- Ensembl
- ENSG00000145087
- Chromosome
- 3
- Canonical length
- 1186 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1186 residues, UniProt reviewed canonical sequence.
>Q9Y2K9|STXBP5L
1 MKKFNFRKVL DGLTASSPGS GSSSGSNSGG GAGSGSVHPA GTAGVLREEI QETLTSEYFQ
61 ICKTVRHGFP HQPTALAFDP VQKILAIGTR TGAIRILGRP GVDCYCQHES GAAVLQLQFL
121 INEGALVSAS SDDTLHLWNL RQKRPAILHS LKFNRERITY CHLPFQSKWL YVGTERGNTH
181 IVNIESFILS GYVIMWNKAI ELSTKTHPGP VVHLSDSPRD EGKLLIGYEN GTVVFWDLKS
241 KRAELRVYYD EAIHSIDWHH EGKQFMCSHS DGSLTLWNLK SPSRPFQTTI PHGKSQREGR
301 KSESCKPILK VEYKTCKNSE PFIIFSGGLS YDKACRRPSL TIMHGKAITV LEMDHPIVEF
361 LTLCETPYPN EFQEPYAVVV LLEKDLIVVD LTQSNFPIFE NPYPMDIHES PVTCTAYFAD
421 CPPDLILVLY SIGVKHKKQG YSNKEWPISG GAWNLGAQTY PEIIITGHAD GSIKFWDASA
481 ITLQMLYKLK TSKVFEKQKV GEGKQTCEIV EEDPFAIQMI YWCPESRIFC VSGVSAYVII
541 YKFSRHEITT EIVSLEVRLQ YDVEDIITPE PETSPPFPDL SAQLPSSRSL SGSTNTVASE
601 GVTKDSIPCL NVKTRPVRMP PGYQAELVIQ LVWVDGEPPQ QITSLAVSSA YGIVAFGNCN
661 GLAVVDFIQK TVLLSMGTID LYRSSDLYQR QPRSPRKNKQ FIADNFCMRG LSNFYPDLTK
721 RIRTSYQSLT ELNDSPVPLE LERCKSPTSD HVNGHCTSPT SQSCSSGKRL SSADVSKVNR
781 WGPGRPPFRK AQSAACMEIS LPVTTEENRE NSYNRSRSSS ISSIDKDSKE AITALYFMDS
841 FARKNDSTIS PCLFVGTSLG MVLIISLNLP LADEQRFTEP VMVLPSGTFL SLKGAVLTFS
901 CMDRMGGLMQ PPYEVWRDPN NIDENEKSWR RKVVMNSSSA SQEIGDHQYT IICSEKQAKV
961 FSLPSQTCLY VHNITETSFI LQANVVVMCS SACLACFCAN GHIMIMSLPS LRPMLDVNYL
1021 PLTDMRIART FCFTNEGQAL YLVSPTEIQR LTYSQEMCDN LQDMLGDLFT PIETPEAQNR
1081 GFLKGLFGGS GQTFDREELF GEASAGKASR SLAQHIPGPG SIEGMKGAAG GVMGELTRAR
1141 IALDERGQRL GELEEKTAGM MTSAEAFSKH AHELMLKYKD KKWYQFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against STXBP5L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.34
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 24 nTPM
- cerebral cortex: 8.6 nTPM
- thyroid gland: 7.1 nTPM
- ovary: 5.8 nTPM
- hippocampal formation: 4.1 nTPM
- retina: 4 nTPM
Single-cell type
- brain excitatory neurons: 2,145 nCPM
- brain inhibitory neurons: 966 nCPM
- thyrotrophs: 740 nCPM
- lactotrophs: 717 nCPM
- somatotrophs: 595 nCPM
- corticotrophs: 579 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 215 nTPM
- cerebral cortex: 126 nTPM
- hippocampal formation: 108 nTPM
- white matter: 81 nTPM
- pons: 75 nTPM
- basal ganglia: 73 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.26
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.71
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Lethal(2) giant larvae protein
- WD40 repeat
- Lethal giant larvae homologue 2
- Lethal giant larvae (Lgl)-like, C-terminal domain
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- WD40-repeat-containing domain superfamily
- v-SNARE, coiled-coil homology domain
- WD domain, G-beta repeat
- LLGL2
- Lethal giant larvae(Lgl) like, C-terminal
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of STXBP5L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STXBP5L as an antibody target. Whether an autoantibody or antibody against STXBP5L could matter depends on whether native STXBP5L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STXBP5L is annotated at the cell surface, where native STXBP5L is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label STXBP5L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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