Spart MGI Mouse Gene Detail - MGI:2139806

Symbol

Spart
Name

spartin
Synonyms

mKIAA0610, Spg20, TAHCCP1

Feature Type

protein coding gene
IDs

MGI:2139806
NCBI Gene: 229285
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr3:55019529-55044743 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 26.53 cM
Mapping Data

2 experiments

SNPs within 2kb

749 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2139806	protein coding gene	Chr3:55019500-55044753 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027220	protein coding gene	Chr3:53839516-53864728 (+)
A/J	MGP_AJ_G0027180	protein coding gene	Chr3:52173437-52198755 (+)
AKR/J	MGP_AKRJ_G0027150	protein coding gene	Chr3:53256236-53281351 (+)
BALB/cJ	MGP_BALBcJ_G0027193	protein coding gene	Chr3:52025106-52050317 (+)
C3H/HeJ	MGP_C3HHeJ_G0026936	protein coding gene	Chr3:53457172-53482383 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027639	protein coding gene	Chr3:55897057-55922271 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024998	protein coding gene	Chr3:48692165-48717320 (+)
CAST/EiJ	MGP_CASTEiJ_G0026388	protein coding gene	Chr3:53601930-53628407 (+)
CBA/J	MGP_CBAJ_G0026912	protein coding gene	Chr3:57669259-57694470 (+)
DBA/2J	MGP_DBA2J_G0027046	protein coding gene	Chr3:51726473-51751676 (+)
FVB/NJ	MGP_FVBNJ_G0027014	protein coding gene	Chr3:50718576-50743735 (+)
LP/J	MGP_LPJ_G0027158	protein coding gene	Chr3:54551887-54577101 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027032	protein coding gene	Chr3:61791215-61816324 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027697	protein coding gene	Chr3:53161103-53186317 (+)
PWK/PhJ	MGP_PWKPhJ_G0026120	protein coding gene	Chr3:51398367-51423528 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025933	protein coding gene	Chr3:52918118-52943401 (+)
WSB/EiJ	MGP_WSBEiJ_G0026462	protein coding gene	Chr3:53288631-53313838 (+)

Human Ortholog

SPART, spartin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPART, spartin
Synonyms

SPG20, TAHCCP1
Links

HGNC:18514

NCBI Gene ID: 23111

neXtProt AC: NX_Q8N0X7

UniProt: Q8N0X7
Chr Location

13q13.3; chr13:36301638-36370180 (-) GRCh38

MGI Vertebrate Homology

Spart stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SPART
Gene Tree

Spart

Diseases

1 with Spart mouse models; 1 with human SPART associations

Human Disease

Mouse Models

Troyer syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

26 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

12
Endonuclease-mediated

1
Gene trapped

2
Radiation induced

2
Targeted

7
Genomic Mutations

2 involving Spart
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination.

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All GO Annotations

34
GO References

10

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

730
Tissues

3
cDNA Data

114
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase spart

ZFIN spartb

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All Sequences

80
RefSeq

16
UniProt

5
CCDS

CCDS38432.1, CCDS50908.1

Ensembl

ENSMUSG00000036580 (Evidence)
NCBI Gene

229285

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036580	Ensembl Gene Model \| MGI Sequence Detail	25215	C57BL/6J	± kb
transcript	ENSMUST00000118118	Ensembl \| MGI Sequence Detail	3981	Not Applicable
polypeptide	ENSMUSP00000113621	Ensembl \| MGI Sequence Detail	671	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000015518 spartin

(term hierarchy)
InterPro Domains

IPR007330 MIT domain

IPR036181 MIT domain superfamily

IPR009686 Senescence/spartin-associated, C-terminal

IPR045036 Spartin-like
GlyGen

Q8R1X6 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 114

cDNA 114

Microarray probesets 6

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MGI:2140061, MGI:7413984

Summaries

All 53

Developmental Gene Expression 1

Diseases 2

Gene Ontology 10

Phenotypes 18
Earliest

J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
Latest

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

TSS for Spart:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr29147	Chr3:55019501-55019592 (+)	18 bp
Tssr29148	Chr3:55019775-55019797 (+)	257 bp
Tssr29149	Chr3:55019798-55019826 (+)	283 bp
Tssr29150	Chr3:55023595-55023616 (+)	4,077 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