Synj1 MGI Mouse Gene Detail - MGI:1354961

Symbol

Synj1
Name

synaptojanin 1
Synonyms

A930006D20Rik, mKIAA0910

Feature Type

protein coding gene
IDs

MGI:1354961
NCBI Gene: 104015
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr16:90732980-90808196 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 52.18 cM, cytoband C3-C4
Mapping Data

4 experiments

SNPs within 2kb

1774 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1354961	protein coding gene	Chr16:90732980-90810543 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023032	protein coding gene	Chr16:91909281-91991692 (-)
A/J	MGP_AJ_G0023000	protein coding gene	Chr16:87625562-87701375 (-)
AKR/J	MGP_AKRJ_G0022970	protein coding gene	Chr16:90260107-90340691 (-)
BALB/cJ	MGP_BALBcJ_G0023002	protein coding gene	Chr16:88146054-88221287 (-)
C3H/HeJ	MGP_C3HHeJ_G0022763	protein coding gene	Chr16:90831373-90907009 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023449	protein coding gene	Chr16:94898255-94975880 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020951	protein coding gene	Chr16:85327085-85406755 (-)
CAST/EiJ	MGP_CASTEiJ_G0022282	protein coding gene	Chr16:91379517-91458552 (-)
CBA/J	MGP_CBAJ_G0022732	protein coding gene	Chr16:98946279-99027277 (-)
DBA/2J	MGP_DBA2J_G0022866	protein coding gene	Chr16:87524152-87600015 (-)
FVB/NJ	MGP_FVBNJ_G0022840	protein coding gene	Chr16:86655691-86730614 (-)
LP/J	MGP_LPJ_G0022936	protein coding gene	Chr16:91605871-91686634 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022861	protein coding gene	Chr16:103512547-103594643 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023467	protein coding gene	Chr16:90774477-90852673 (-)
PWK/PhJ	MGP_PWKPhJ_G0022027	protein coding gene	Chr16:87696434-87773104 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0021857	protein coding gene	Chr16:90337639-90414300 (-)
WSB/EiJ	MGP_WSBEiJ_G0022334	protein coding gene	Chr16:91015666-91097716 (-)

Human Ortholog

SYNJ1, synaptojanin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SYNJ1, synaptojanin 1
Synonyms

DEE53, EIEE53, INPP5G, PARK20
Links

HGNC:11503

NCBI Gene ID: 8867

neXtProt AC: NX_O43426

UniProt: O43426
Chr Location

21q22.11; chr21:32628759-32728394 (-) GRCh38

MGI Vertebrate Homology

Synj1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SYNJ1
Gene Tree

Synj1

Diseases

3 with human SYNJ1 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 53 IDs developmental and epileptic encephalopathy 53 DOID:0080464 OMIM:617389
				Parkinson's disease IDs Parkinson's disease DOID:14330 ICD10CM:G20 ICD9CM:332 ICD9CM:332.0 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:PS168600 ORDO:2828 UMLS_CUI:C0030567
				Parkinson's disease 20 IDs Parkinson's disease 20 DOID:0060898 OMIM:615530

Click on a disease name to see all genes associated with that disease.

References

4 with disease annotations

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Phenotype Summary

15 phenotypes from 3 alleles in 3 genetic backgrounds
99 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

17
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

1
Targeted

11
Genomic Mutations

8 involving Synj1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

72 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth.

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All GO Annotations

65
GO References

13

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

955
Tissues

146
cDNA Data

114
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase synj1

ZFIN synj1

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All Sequences

179
RefSeq

103
UniProt

10
CCDS

CCDS49906.1, CCDS49907.1

Ensembl

ENSMUSG00000022973 (Evidence)
NCBI Gene

104015

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022973	Ensembl Gene Model \| MGI Sequence Detail	75217	C57BL/6J	± kb
transcript	ENSMUST00000121759	Ensembl \| MGI Sequence Detail	7090	Not Applicable
polypeptide	ENSMUSP00000113308	Ensembl \| MGI Sequence Detail	1607	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000015882 synaptojanin-1

(term hierarchy)
EC

3.1.3.36
InterPro Domains

IPR036691 Endonuclease/exonuclease/phosphatase superfamily

IPR046985 Inositol 5-phosphatase

IPR000300 Inositol polyphosphate-related phosphatase

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR035979 RNA-binding domain superfamily

IPR000504 RNA recognition motif domain

IPR002013 SAC domain

IPR015047 Synaptojanin-1/2, RNA recognition motif

IPR034971 Synaptojanin-1, RNA recognition motif
GlyGen

Q8CHC4 7 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (6 sites)

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All nucleic 123

Genomic 1

cDNA 114

Primer pair 7

Other 1

Microarray probesets 7

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MGI:1925189, MGI:2146363

Summaries

All 151

Developmental Gene Expression 14

Diseases 4

Gene Ontology 13

Phenotypes 99
Earliest

J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
Latest

J:353846 Kokotos AC, et al., Phosphoglycerate kinase is a central leverage point in Parkinson's disease-driven neuronal metabolic deficits. Sci Adv. 2024 Aug 23;10(34):eadn6016

TSS for Synj1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr142055	Chr16:90808304-90808319 (-)	-116 bp
Tssr142054	Chr16:90808017-90808058 (-)	158 bp
Tssr142053	Chr16:90807981-90807992 (-)	209 bp
Tssr142052	Chr16:90807917-90807957 (-)	259 bp
Tssr142051	Chr16:90807893-90807911 (-)	294 bp
Tssr142050	Chr16:90785639-90785658 (-)	22,547 bp
Tssr142049	Chr16:90768936-90768954 (-)	39,251 bp
Tssr142048	Chr16:90758839-90758843 (-)	49,355 bp
Tssr142047	Chr16:90753753-90753798 (-)	54,420 bp
Tssr142046	Chr16:90743746-90743749 (-)	64,448 bp
Tssr142045	Chr16:90743548-90743580 (-)	64,632 bp
Tssr142044	Chr16:90735043-90735063 (-)	73,143 bp
Tssr142043	Chr16:90734240-90734252 (-)	73,950 bp
Tssr142042	Chr16:90734124-90734143 (-)	74,062 bp
Tssr142041	Chr16:90734089-90734108 (-)	74,097 bp
Tssr142040	Chr16:90734061-90734079 (-)	74,126 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)
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