Shank1 MGI Mouse Gene Detail - MGI:3613677 - SH3 and multiple ankyrin repeat domains 1

Symbol

Shank1
Name

SH3 and multiple ankyrin repeat domains 1

Feature Type

protein coding gene
IDs

MGI:3613677
NCBI Gene: 243961
Gene Overview

MyGene.info: SHANK1
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr7:44310253-44360572 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 28.83 cM
Mapping Data

1 experiment

SNPs within 2kb

190 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3613677	protein coding gene	Chr7:44307899-44360572 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0032158	protein coding gene	Chr7:44466333-44522585 (+)
A/J	MGP_AJ_G0032137	protein coding gene	Chr7:43662096-43712654 (+)
AKR/J	MGP_AKRJ_G0032073	protein coding gene	Chr7:44854338-44906176 (+)
BALB/cJ	MGP_BALBcJ_G0032149	protein coding gene	Chr7:43660470-43710561 (+)
C3H/HeJ	MGP_C3HHeJ_G0031865	protein coding gene	Chr7:45351161-45402019 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032641	protein coding gene	Chr7:46714451-46769655 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029655	protein coding gene	Chr7:46254395-46304667 (+)
CAST/EiJ	MGP_CASTEiJ_G0031193	protein coding gene	Chr7:36710256-36764927 (+)
CBA/J	MGP_CBAJ_G0031829	protein coding gene	Chr7:48229179-48285014 (+)
DBA/2J	MGP_DBA2J_G0031987	protein coding gene	Chr7:43335808-43386218 (+)
FVB/NJ	MGP_FVBNJ_G0031938	protein coding gene	Chr7:43065236-43116848 (+)
LP/J	MGP_LPJ_G0032065	protein coding gene	Chr7:45145748-45197386 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031975	protein coding gene	Chr7:46996902-47054167 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032657	protein coding gene	Chr7:44074924-44128579 (+)
PWK/PhJ	MGP_PWKPhJ_G0030916	protein coding gene	Chr7:36670717-36722874 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030753	protein coding gene	Chr7:32083041-32135017 (+)
WSB/EiJ	MGP_WSBEiJ_G0031310	protein coding gene	Chr7:44536249-44587693 (+)

Human Ortholog

SHANK1, SH3 and multiple ankyrin repeat domains 1

Vertebrate Orthologs

7

Human Ortholog

SHANK1, SH3 and multiple ankyrin repeat domains 1
Orthology source: HomoloGene, HGNC
Synonyms

SPANK-1, SSTRIP, synamon
Links

HGNC:15474

NCBI Gene ID: 50944

neXtProt AC: NX_Q9Y566

UniProt: Q9Y566
Chr Location

19q13.33; chr19:50659257-50719779 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 22949
1 human;1 mouse;1 rat;1 cattle;1 dog;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: SHANK1
Gene Tree

Shank1

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Gene trapped

3
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in smaller pyramidal neuron dendritic spines, smaller and thinner postsynaptic density of central excitatory synapses, weaker synaptic transmission, increased anxiety-related behavior, and impaired contextual fearmemory, but enhanced spatial learning.

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All GO Annotations

98
GO References

15

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

8
Tissues

3
cDNA Data

3
Literature Summary

8

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase shank1

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Shank1 interacts with 179 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

62
RefSeq

26
UniProt

3
CCDS

CCDS52229.1

Ensembl

ENSMUSG00000038738 (Evidence)
NCBI Gene

243961

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038738	Ensembl Gene Model \| MGI Sequence Detail	50320	C57BL/6J	± kb
transcript	ENSMUST00000107938	Ensembl \| MGI Sequence Detail	9826	Not Applicable
polypeptide	ENSMUSP00000103571	Ensembl \| MGI Sequence Detail	2167	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014831 SH3 and multiple ankyrin repeat domains protein 1

(term hierarchy)
InterPro Domains

IPR002110 Ankyrin repeat

IPR020683 Ankyrin repeat-containing domain

IPR036770 Ankyrin repeat-containing domain superfamily

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR035735 Shank1, SH3 domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily

IPR032425 Talin, N-terminal F0 domain

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All nucleic 4

cDNA 3

Primer pair 1

Microarray probesets 3

Summaries

All 39

Developmental Gene Expression 8

Gene Ontology 15

Phenotypes 9
Earliest

J:107647 Thuret S, et al., Identification and developmental analysis of genes expressed by dopaminergic neurons of the substantia nigra pars compacta. Mol Cell Neurosci. 2004 Mar;25(3):394-405
Latest

J:255264 Zhang J, et al., A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry. Cell Rep. 2017 Oct 17;21(3):666-678

TSS for Shank1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr66125	Chr7:44310190-44310205 (+)	-55 bp
Tssr66126	Chr7:44310213-44310242 (+)	-25 bp
Tssr66129	Chr7:44335675-44335687 (+)	25,428 bp
Tssr66130	Chr7:44335719-44335752 (+)	25,483 bp
Tssr66131	Chr7:44335765-44335783 (+)	25,521 bp
Tssr66132	Chr7:44335784-44335812 (+)	25,545 bp
Tssr66133	Chr7:44335823-44335830 (+)	25,574 bp
Tssr66135	Chr7:44351753-44351766 (+)	41,507 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/06/2018 MGI 6.13