Shank1 MGI Mouse Gene Detail - MGI:3613677

Shank1 Gene Detail

Symbol

Shank1
Name

SH3/ankyrin domain gene 1

Feature Type

protein coding gene
IDs

MGI:3613677
NCBI Gene: 243961
Gene Overview

MyGene.info: SHANK1

Sequence Map

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

Mouse Genome Browser
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Sequence

50320 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 28.83 cM
Mapping Data

1 experiment

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
Chr Location

19q13.3; chr19:50659264-50719783 (-) GRCh38.p2

HomoloGene

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

human homology predictions: SHANK1
Gene Tree

Shank1

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
6 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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Gene trapped

3
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC

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

51
GO References

12

Molecular Function

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

Biological Process

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

6

Tissue x Stage Matrix

Other Mouse Links

GEO
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

54
RefSeq

26
UniProt

3
CCDS

CCDS52229.1

			Length	Strain/Species	Flank
genomic	OTTMUSG00000016443	VEGA Gene Model \| MGI Sequence Detail	50320	C57BL/6J	± kb
transcript	OTTMUST00000039587	VEGA \| MGI Sequence Detail	9826	Not Applicable
polypeptide	OTTMUSP00000017680	VEGA \| MGI Sequence Detail	2167	Not Applicable

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SNPs within 2kb

190 from dbSNP Build 142

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UniProt

3 Sequences
Protein Ontology

PR:000014831 SH3 and multiple ankyrin repeat domains protein 1
InterPro Domains

IPR002110 Ankyrin repeat

IPR020683 Ankyrin repeat-containing domain

IPR001478 PDZ domain

IPR001452 SH3 domain

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain

IPR032425 Talin, N-terminal F0 domain

IPR011511 Variant SH3 domain

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All nucleic 4

cDNA 3

Primer pair 1

Microarray probesets 3

Summaries

All 31

Developmental Gene Expression 6

Gene Ontology 12

Phenotypes 6
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:221584 Quesnel-Vallieres M, et al., Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development. Genes Dev. 2015 Apr 1;29(7):746-59

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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