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
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr7:43959677-44009996 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 28.83 cM
Mapping Data

1 experiment

SNPs within 2kb

820 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	Chr7:43958343-44009996 (+)
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

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SHANK1, SH3 and multiple ankyrin repeat domains 1
Synonyms

SPANK-1, SSTRIP, synamon
Links

HGNC:15474

NCBI Gene ID: 50944

neXtProt AC: NX_Q9Y566

UniProt: Q9Y566
Chr Location

19q13.33; chr19:50659255-50719802 (-) GRCh38

MGI Vertebrate Homology

Shank1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SHANK1
Gene Tree

Shank1

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Phenotype Summary

28 phenotypes from 2 alleles in 2 genetic backgrounds
18 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

7
Endonuclease-mediated

4
Gene trapped

2
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

98 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

81
GO References

17

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 differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

729
Tissues

7
cDNA Data

3
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase shank1

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All Sequences

76
RefSeq

40
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

IPR036770 Ankyrin repeat-containing domain superfamily

IPR001478 PDZ domain

IPR041489 PDZ domain 6

IPR036034 PDZ superfamily

IPR051569 SH3 and multiple ankyrin repeat domains protein

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR001660 Sterile alpha motif domain

IPR013761 Sterile alpha motif/pointed domain superfamily
GlyGen

D3YZU1 13 sites, 1 O-linked glycan (13 sites)

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All nucleic 6

cDNA 3

Primer pair 3

Microarray probesets 3

Summaries

All 56

Developmental Gene Expression 12

Gene Ontology 17

Phenotypes 18
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Shank1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr66125	Chr7:43959614-43959629 (+)	-55 bp
Tssr66126	Chr7:43959637-43959666 (+)	-25 bp
Tssr66127	Chr7:43969218-43969232 (+)	9,548 bp
Tssr66128	Chr7:43969233-43969259 (+)	9,569 bp
Tssr66129	Chr7:43985099-43985111 (+)	25,428 bp
Tssr66130	Chr7:43985143-43985176 (+)	25,483 bp
Tssr66131	Chr7:43985189-43985207 (+)	25,521 bp
Tssr66132	Chr7:43985208-43985236 (+)	25,545 bp
Tssr66133	Chr7:43985247-43985254 (+)	25,574 bp
Tssr66134	Chr7:43993087-43993106 (+)	33,420 bp
Tssr66135	Chr7:44001177-44001190 (+)	41,507 bp
Tssr66136	Chr7:44005339-44005353 (+)	45,669 bp
Tssr66137	Chr7:44005763-44005777 (+)	46,093 bp
Tssr66138	Chr7:44006054-44006067 (+)	46,384 bp
Tssr66139	Chr7:44007394-44007408 (+)	47,724 bp
Tssr66140	Chr7:44007922-44007933 (+)	48,251 bp
Tssr66141	Chr7:44007957-44007971 (+)	48,287 bp
Tssr66142	Chr7:44007998-44008007 (+)	48,326 bp
Tssr66143	Chr7:44008013-44008037 (+)	48,348 bp
Tssr66144	Chr7:44008529-44008538 (+)	48,857 bp
Tssr66145	Chr7:44009160-44009187 (+)	49,497 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24