Sprtn MGI Mouse Gene Detail - MGI:2685351 - SprT-like N-terminal domain

Symbol

Sprtn
Name

SprT-like N-terminal domain
Synonyms

Gm505, LOC244666

Feature Type

protein coding gene
IDs

MGI:2685351
NCBI Gene: 244666
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr8:125624625-125632900 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 72.83 cM
Mapping Data

1 experiment

SNPs within 2kb

247 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685351	protein coding gene	Chr8:125624612-125632903 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034282	protein coding gene	Chr8:128612400-128620547 (+)
A/J	MGP_AJ_G0034262	protein coding gene	Chr8:123276534-123282399 (+)
AKR/J	MGP_AKRJ_G0034189	protein coding gene	Chr8:126836556-126842631 (+)
BALB/cJ	MGP_BALBcJ_G0034255	protein coding gene	Chr8:123457623-123463554 (+)
C3H/HeJ	MGP_C3HHeJ_G0033966	protein coding gene	Chr8:127484826-127490729 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034775	protein coding gene	Chr8:132900202-132907668 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031716	protein coding gene	Chr8:116034557-116040493 (+)
CAST/EiJ	MGP_CASTEiJ_G0033293	protein coding gene	Chr8:127605563-127611464 (+)
CBA/J	MGP_CBAJ_G0033939	protein coding gene	Chr8:137778078-137787443 (+)
DBA/2J	MGP_DBA2J_G0034095	protein coding gene	Chr8:122438512-122444613 (+)
FVB/NJ	MGP_FVBNJ_G0034039	protein coding gene	Chr8:121615912-121621809 (+)
LP/J	MGP_LPJ_G0034184	protein coding gene	Chr8:128774410-128781095 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034086	protein coding gene	Chr8:139852843-139858746 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034794	protein coding gene	Chr8:127077492-127084895 (+)
PWK/PhJ	MGP_PWKPhJ_G0032995	protein coding gene	Chr8:122195086-122200975 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032834	protein coding gene	Chr8:125705899-125711775 (+)
WSB/EiJ	MGP_WSBEiJ_G0033410	protein coding gene	Chr8:127792633-127798536 (+)

Human Ortholog

SPRTN, SprT-like N-terminal domain

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPRTN, SprT-like N-terminal domain
Synonyms

C1orf124, DVC1, PRO4323, spartan
Links

HGNC:25356

NCBI Gene ID: 83932

neXtProt AC: NX_Q9H040

UniProt: Q9H040
Chr Location

1q42.2; chr1:231337104-231355023 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SPRTN
Gene Tree

Sprtn

Diseases

1 with human SPRTN associations

				Human Disease	Mouse Models
				Ruijs-Aalfs syndrome IDs Ruijs-Aalfs syndrome DOID:0111264 OMIM:616200 ORDO:435953

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

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Phenotype Summary

23 phenotypes from 3 alleles in 2 genetic backgrounds
7 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

6
Endonuclease-mediated

2
Gene trapped

1
Targeted

3
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). Inducible homozygous knockout in MEFs leads to chromosomal instability.

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All GO Annotations

37
GO References

6

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

706
cDNA Data

11

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sprtn

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All Sequences

39
RefSeq

12
UniProt

1
CCDS

CCDS52705.1

Ensembl

ENSMUSG00000031986 (Evidence)
NCBI Gene

244666

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031986	Ensembl Gene Model \| MGI Sequence Detail	8276	C57BL/6J	± kb
transcript	ENSMUST00000034467	Ensembl \| MGI Sequence Detail	4464	Not Applicable
polypeptide	ENSMUSP00000034467	Ensembl \| MGI Sequence Detail	497	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000031089 DNA-dependent metalloprotease SPRTN

(term hierarchy)
EC

3.4.24.-
InterPro Domains

IPR006642 Rad18, zinc finger UBZ4-type

IPR006640 SprT-like

IPR044245 SprT-like domain-containing protein Spartan

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All nucleic 11

cDNA 11

Microarray probesets 1

Summaries

All 25

Gene Ontology 6

Phenotypes 7
Earliest

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Sprtn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr80053	Chr8:125624012-125624036 (+)	-601 bp
Tssr80054	Chr8:125624585-125624608 (+)	-28 bp
Tssr80055	Chr8:125624616-125624640 (+)	3 bp
Tssr80056	Chr8:125624649-125624666 (+)	33 bp
Tssr80057	Chr8:125624842-125624893 (+)	243 bp
Tssr80058	Chr8:125625175-125625188 (+)	557 bp
Tssr80059	Chr8:125625193-125625211 (+)	577 bp
Tssr80060	Chr8:125625215-125625222 (+)	594 bp
Tssr80061	Chr8:125625225-125625241 (+)	608 bp
Tssr80062	Chr8:125625243-125625263 (+)	628 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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