Sfpq MGI Mouse Gene Detail - MGI:1918764 - splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)

Symbol

Sfpq
Name

splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated)
Synonyms

1110004P21Rik, 2810416M14Rik, 5730453G22Rik, 9030402K04Rik, D4Ertd314e, PSF, REP1

Feature Type

protein coding gene
IDs

MGI:1918764
NCBI Gene: 71514
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr4:126915117-126930806 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 61.20 cM
Mapping Data

3 experiments

SNPs within 2kb

223 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918764	protein coding gene	Chr4:126914504-126944894 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028790	protein coding gene	Chr4:128748542-128764227 (+)
A/J	MGP_AJ_G0028749	protein coding gene	Chr4:123674366-123690261 (+)
AKR/J	MGP_AKRJ_G0028702	protein coding gene	Chr4:127069763-127085449 (+)
BALB/cJ	MGP_BALBcJ_G0028772	protein coding gene	Chr4:124239925-124255620 (+)
C3H/HeJ	MGP_C3HHeJ_G0028486	protein coding gene	Chr4:127143690-127160501 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029214	protein coding gene	Chr4:133634595-133651766 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026487	protein coding gene	Chr4:116787758-116803722 (+)
CAST/EiJ	MGP_CASTEiJ_G0027919	protein coding gene	Chr4:125255821-125273489 (+)
CBA/J	MGP_CBAJ_G0028452	protein coding gene	Chr4:136878672-136897200 (+)
DBA/2J	MGP_DBA2J_G0028601	protein coding gene	Chr4:124113282-124128969 (+)
FVB/NJ	MGP_FVBNJ_G0028568	protein coding gene	Chr4:122776774-122792258 (+)
LP/J	MGP_LPJ_G0028702	protein coding gene	Chr4:129019409-129036439 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028594	protein coding gene	Chr4:141889893-141906181 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029252	protein coding gene	Chr4:127433495-127449162 (+)
PWK/PhJ	MGP_PWKPhJ_G0027640	protein coding gene	Chr4:120611346-120627411 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027466	protein coding gene	Chr4:123260413-123276109 (+)
WSB/EiJ	MGP_WSBEiJ_G0027999	protein coding gene	Chr4:127549432-127565636 (+)

Human Ortholog

SFPQ, splicing factor proline and glutamine rich

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SFPQ, splicing factor proline and glutamine rich
Synonyms

POMP100, PPP1R140, PSF
Links

HGNC:10774

NCBI Gene ID: 6421

neXtProt AC: NX_P23246

UniProt: P23246
Chr Location

1p34.3; chr1:35176378-35193446 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SFPQ
Gene Tree

Sfpq

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Phenotype Summary

15 phenotypes from 4 alleles in 4 genetic backgrounds
22 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

28
Chemically induced (other)

2
Endonuclease-mediated

5
Gene trapped

15
Radiation induced

1
Targeted

5
Genomic Mutations

4 involving Sfpq
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die embryonically. Heterozygous gene trap mice show abnormality in entrainment of circadian rhythm.

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All GO Annotations

55
GO References

18

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

785
Tissues

47
cDNA Data

27
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sfpq

ZFIN sfpq

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All Sequences

100
RefSeq

17
UniProt

6
CCDS

CCDS18662.1

Ensembl

ENSMUSG00000028820 (Evidence)
NCBI Gene

71514

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028820	Ensembl Gene Model \| MGI Sequence Detail	15690	C57BL/6J	± kb
transcript	ENSMUST00000247843	Ensembl \| MGI Sequence Detail	3465	Not Applicable
polypeptide	ENSMUSP00000159529	Ensembl \| MGI Sequence Detail	720	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000014743 splicing factor, proline- and glutamine-rich

(term hierarchy)
InterPro Domains

IPR012975 NOPS

IPR012677 Nucleotide-binding alpha-beta plait domain superfamily

IPR034526 PSF, NOPS domain

IPR034525 PSF, RNA recognition motif 1

IPR035979 RNA-binding domain superfamily

IPR000504 RNA recognition motif domain
GlyGen

Q8VIJ6 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)

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All nucleic 30

cDNA 27

Primer pair 3

Microarray probesets 7

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MGI:1196226, MGI:1915728, MGI:1917845, MGI:1925565, MGI:2140463

Summaries

All 79

Developmental Gene Expression 13

Gene Ontology 18

Phenotypes 22
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

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

TSS for Sfpq:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39027	Chr4:126915078-126915085 (+)	-35 bp
Tssr39028	Chr4:126915087-126915092 (+)	-27 bp
Tssr39029	Chr4:126915104-126915132 (+)	1 bp
Tssr39030	Chr4:126915771-126915785 (+)	661 bp
Tssr39031	Chr4:126917125-126917147 (+)	2,019 bp
Tssr39032	Chr4:126917199-126917227 (+)	2,096 bp
Tssr39033	Chr4:126917232-126917253 (+)	2,126 bp
Tssr39034	Chr4:126917271-126917302 (+)	2,170 bp
Tssr39035	Chr4:126917451-126917533 (+)	2,375 bp
Tssr39036	Chr4:126919642-126919707 (+)	4,558 bp
Tssr39037	Chr4:126923639-126923692 (+)	8,549 bp
Tssr39038	Chr4:126923960-126923971 (+)	8,849 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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