SHANK1 (SH3 and multiple ankyrin repeat domains 1)

2014-11-01  

Identity

HGNC
SHANK1
LOCATION
19q13.33
LOCUSID
50944
ALIAS
SPANK-1,SSTRIP,synamon
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50944
MIM: 604999
HGNC: 15474
Ensembl: ENSG00000161681

Variants:

dbSNP: 50944
ClinVar: 50944
TCGA: ENSG00000161681
COSMIC: SHANK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161681ENST00000293441Q9Y566
ENSG00000161681ENST00000359082Q9Y566
ENSG00000161681ENST00000391813Q9Y566
ENSG00000161681ENST00000391814H9KV90
ENSG00000161681ENST00000468654M0QYB5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Neuronal SystemREACTOMER-HSA-112316
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
353881812022A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.7
353881812022A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling.7
341130102021Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.4
341130102021Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.4
323563032020The roles of SHANK1 in the development of colon cancer.5
325642872020Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.2
323563032020The roles of SHANK1 in the development of colon cancer.5
325642872020Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients.2
306293392019SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age.5
306293392019SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age.5
289630422018Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective.13
289630422018Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective.13
282639562017SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras.59
282639562017SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras.59
245330962014A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA.10

Citation

Dessen P

SHANK1 (SH3 and multiple ankyrin repeat domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73217/js/css/template-nav.css