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FLASH GENE

Symbol

SHANK1

contributors: mct/npt/pgu - updated : 09-05-2012

HGNC name	SH3 and multiple ankyrin repeat domains 1
HGNC id	15474

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	55.11 kb     23 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text

several

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016148 23 splicing 6643 NP_057232 233 2161 - 1999 10551867 also called SSTRIP variant a variant b - splicing 4790 isoform b 170 1548 - 1999 10551867

EXPRESSION

Type

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 Nervous brain diencephalon hypothalamus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing brain, cell body dendrites

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one SH3 domain
	six ankyrin repeats
	one PSD-95/DLG/ZO1 domain (PDZ domain), recognizing the C-terminus of numerous target proteins
	one sterile alpha motif (SAM) domain
	a proline rich region

HOMOLOGY

interspecies

homolog to rattus cortactin binding protein 1

Homologene

FAMILY

shank family of synaptic protein

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm

basic FUNCTION	molecular scaffold in the post-synaptic density (PSD)
	regulate the size and shape of dendritic spines because of their capacity to directly interact with many different PSD components and represent master scaffold proteins of the PSD (the observed increase of SHANK1 levels at synapses resulting from the cellular loss of FMR1 strongly interferes with the mental capacities of FXS patients)
	scaffolding molecule of the postsynaptic density (PSD) of excitatory synapses, which is crucial for PSD assembly and the formation of dendritic spines
	neuronal scaffold proteins that is involved in the formation of synaptic protein complexes
	able to serve as a membrane-associated scaffold for the assembly of signaling complexes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	sharpin
	specific association of CACNA1D C terminus, with SHANK1 PDZ domain
	interacting with FMR1 (represses translation of SHANK1 transcripts in neurons via an interaction with its 3 prime UTR, but translation block is abolished upon the activation of GRMs and deregulated postsynaptic synthesis of SHANK1 may significantly contribute to the aberrant dendritic spine morphology caused by the absence of FMR1)
	asymmetric association of ARHGEF7 CC and SHANK1 PDZ domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in Autism Spectrum Disorder, or broader autism phenotype, limited to males which provides further evidence of the existence of a protective factor and has significant implications for elucidating the molecular basis of sex bias in ASD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

reduced levels of ultrasonic vocalizations and scent marking behavior in Shank1(-/-) mice are consistent with a phenotype relevant to social communication deficits in autism