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FLASH GENE

Symbol

STAMBP

contributors: mct/npt - updated : 12-12-2023

HGNC name	STAM binding protein
HGNC id	16950

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MICCAP microcephaly-capillary malformation syndrome
Location	2p13.1      Physical location : 74.056.085 - 74.090.010
Synonym name	associated-molecule with the SH3 domain of STAM (signal transducing adaptor molecule)
Synonym symbol(s)	AMSH, MGC126516, MGC126518
EC.number	3.1.2.15

DNA

TYPE	functioning gene
SPECIAL FEATURE	head to head
STRUCTURE	38.25 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

in the PARK3 region

RNA

TRANSCRIPTS	type	messenger

text	Variants 1, 2 and 3 encode the same isoform

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006463 11 - 6386 NP_006454 47.9 424 - 2021 34425109 NM_201647 10 - 6232 NP_964010 47.9 424 - 2021 34425109 NM_213622 10 - 6709 NP_998787 47.9 424 - 2021 34425109 NM_001353976 11 - 6950 NP_001340905 - 275 - 2021 34425109 NM_001353974 10 - 6894 NP_001340903 - 289 - 2021 34425109 NM_001353975 11 - 6560 NP_001340904 - 289 - 2021 34425109 NM_001353970 12 - 6468 NP_001340899 - 410 - 2021 34425109 NM_001353968 10 - 6306 NP_001340897 - 424 - 2021 34425109 NM_001353967 10 - 6338 NP_001340896 - 424 - 2021 34425109 NM_001353973 11 - 6486 NP_001340902 - 289 - 2021 34425109 NM_001353971 10 - 6380 NP_001340900 - 289 - 2021 34425109 NM_001353969 11 - 6288 NP_001340898 - 410 - 2021 34425109 NM_001353972 9 - 6017 NP_001340901 - 289 - 2021 34425109

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   highly Hearing/Equilibrium ear inner cochlea   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a putative bipartite nuclear localization signal (NLS)
	an homolog region of a c-Jun activation domain binding protein (JAB1) subdomain
	a binding site for the SH3 domain of STAM
	a RXXK motif interacting with the SH3 domains of the STAM and GRB2 families of adaptor proteins with high affinity

HOMOLOGY

Homologene

FAMILY	peptidase M67C family
	JAMM metalloprotease family

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	playing a critical role in the cytokine-mediated intracellular signal transduction, downstream of the Jak2/ Jak3-STAM complex
	endosomal STAMBP is a functional component of the multivesicular body pathway, and is required for epidermal growth factor receptor degradation
	deubiquitinating enzyme with functions at the endosome, which oppose the ubiquitin-dependent sorting of receptors to lysosomes
	zinc-containing ubiquitin isopeptidase, that is thought to play a role in regulation of ubiquitin-mediated degradation by binding to STAM
	endosomal STAMBP is a functional component of the multivesicular body pathway
	implicated in the endocytic sorting of both G protein-coupled receptors and receptor-tyrosine kinases
	key modulator of receptor fate determination through its action on components of the endocytic machinery
	deubiquitination enzyme that participates in the endosomal sorting of several cell-surface molecules
	crucial for the proper degradation of both ubiquitinated proteins and glutamate receptors in the central nervous system
	is crucial for the removal of ubiquitin molecules during receptor-mediated endocytosis and lysosomal receptor sorting
	. non-degradative ubiquitination of NLRP3 by STAMBP to limit excessive inflammasome activation and to reduce injurious IL1B signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with STAM2, GRAP2, CHMP3, CHMP1A, ALAS1, AMN, UACA, CTNNBL1, MAP2K5, CHMP1A, CHMP1B, VPS24
	STAM-STAMBP interaction facilitates the deubiquitination activity in the C-terminal STAMBP
	CHMP3, an ESCRT-III complex component, and associated molecule of SH3 domain of STAM (STAMBP), a deubiquitinating enzyme, interact with each other in cells
	tight coupling of ESCRT-III CHMP3 and STAMBP functions and provide insight into the regulation of ESCRT-III
	interacts with signal transducing adapter molecule (STAM) 1 or STAM2, which enhances the activity of STAMBP through an unknown mechanism
	importance of STAMBP in melanoma metastasis by regulating SNAI2
	is a negative regulator of the NLRP3 inflammasome

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MICCAP

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   STAMBP is a potential therapeutic target to reduce pro-inflammatory stress

ANIMAL & CELL MODELS

Stambp -/- mice exhibit severe neuronal damage, specifically neuron loss and increasing numbers of apoptotic cells, that is almost entirely confined to the CA1 subfield of the hippocampus