Pfn1 MGI Mouse Gene Detail - MGI:97549

Symbol

Pfn1
Name

profilin 1
Synonyms

actin binding protein, Pfn

Feature Type

protein coding gene
IDs

MGI:97549
NCBI Gene: 18643
Alliance

gene page
Transcription Start Sites

21 TSS

Sequence Map

Chr11:70542676-70545470 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 43.21 cM, cytoband A-D
Mapping Data

5 experiments

SNPs within 2kb

28 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97549	protein coding gene	Chr11:70542670-70547625 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018609	protein coding gene	Chr11:71195320-71198104 (-)
A/J	MGP_AJ_G0018577	protein coding gene	Chr11:68506430-68509218 (-)
AKR/J	MGP_AKRJ_G0018546	protein coding gene	Chr11:70563680-70566470 (-)
BALB/cJ	MGP_BALBcJ_G0018549	protein coding gene	Chr11:68815590-68818379 (-)
C3H/HeJ	MGP_C3HHeJ_G0018362	protein coding gene	Chr11:70582346-70585137 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019000	protein coding gene	Chr11:73352157-73356181 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016645	protein coding gene	Chr11:65413941-65416693 (-)
CAST/EiJ	MGP_CASTEiJ_G0017917	protein coding gene	Chr11:70852531-70856504 (-)
CBA/J	MGP_CBAJ_G0018334	protein coding gene	Chr11:76655818-76658606 (-)
DBA/2J	MGP_DBA2J_G0018444	protein coding gene	Chr11:68079667-68082438 (-)
FVB/NJ	MGP_FVBNJ_G0018434	protein coding gene	Chr11:67720405-67723200 (-)
LP/J	MGP_LPJ_G0018514	protein coding gene	Chr11:71775677-71778468 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018457	protein coding gene	Chr11:77210934-77213725 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019042	protein coding gene	Chr11:70820904-70823695 (-)
PWK/PhJ	MGP_PWKPhJ_G0017691	protein coding gene	Chr11:68726809-68729581 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017481	protein coding gene	Chr11:70635148-70637917 (-)
WSB/EiJ	MGP_WSBEiJ_G0017971	protein coding gene	Chr11:70480319-70483108 (-)

Human Ortholog

PFN1, profilin 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PFN1, profilin 1
Synonyms

ALS18
Links

HGNC:8881

NCBI Gene ID: 5216

neXtProt AC: NX_P07737

UniProt: P07737
Chr Location

17p13.2; chr17:4945652-4949061 (-) GRCh38

MGI Vertebrate Homology

Pfn1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PFN1
Gene Tree

Pfn1

Diseases

1 with human PFN1 associations

				Human Disease	Mouse Models
				amyotrophic lateral sclerosis type 18 IDs amyotrophic lateral sclerosis type 18 DOID:0060209 OMIM:614808

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

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Phenotype Summary

39 phenotypes from 5 alleles in 8 genetic backgrounds
9 phenotypes from multigenic genotypes
46 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

22
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

9
Targeted

9
Genomic Mutations

2 involving Pfn1
Incidental Mutations

Mutagenetix
Find Mice (IMSR)

12 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout mice die at early embryonic stages (before E14.5). Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal. Heterozygous MEFs show a high rate of mitotic defects, such as failures in mitotic rounding and cytokinesis.

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All GO Annotations

61
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

766
Tissues

31
cDNA Data

10
Literature Summary

10

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pfn1

ZFIN pfn1

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All Sequences

52
RefSeq

6
UniProt

6
CCDS

CCDS24960.1

Ensembl

ENSMUSG00000018293 (Evidence)
NCBI Gene

18643

			Length	Strain/Species	Flank
genomic	ENSMUSG00000018293	Ensembl Gene Model \| MGI Sequence Detail	2795	C57BL/6J	± kb
transcript	ENSMUST00000018437	Ensembl \| MGI Sequence Detail	861	Not Applicable
polypeptide	ENSMUSP00000018437	Ensembl \| MGI Sequence Detail	140	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012585 profilin-1

(term hierarchy)
InterPro Domains

IPR048278 Profilin

IPR005454 Profilin1/2/3, vertebrate

IPR027310 Profilin conserved site

IPR005455 Profilin, eukaryotic type

IPR036140 Profilin superfamily
GlyGen

P62962 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 17

Genomic 2

cDNA 12

Primer pair 1

Other 2

Microarray probesets 4

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MGD-MRK-13248, MGD-MRK-13249

Summaries

All 104

Developmental Gene Expression 10

Gene Ontology 13

Phenotypes 46
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:351853 Funes S, et al., Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nat Commun. 2024 Mar 20;15(1):2497

TSS for Pfn1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109013	Chr11:70546042-70546061 (-)	-582 bp
Tssr109012	Chr11:70545987-70546008 (-)	-528 bp
Tssr109011	Chr11:70545956-70545976 (-)	-496 bp
Tssr109010	Chr11:70545872-70545951 (-)	-442 bp
Tssr109009	Chr11:70545740-70545761 (-)	-281 bp
Tssr109008	Chr11:70545450-70545467 (-)	11 bp
Tssr109007	Chr11:70545426-70545442 (-)	36 bp
Tssr109006	Chr11:70544760-70544896 (-)	642 bp
Tssr109005	Chr11:70544058-70544131 (-)	1,375 bp
Tssr109004	Chr11:70543858-70543873 (-)	1,604 bp
Tssr109003	Chr11:70543828-70543837 (-)	1,637 bp
Tssr109002	Chr11:70543774-70543814 (-)	1,676 bp
Tssr109001	Chr11:70543752-70543762 (-)	1,713 bp
Tssr109000	Chr11:70543703-70543740 (-)	1,748 bp
Tssr108999	Chr11:70543648-70543694 (-)	1,799 bp
Tssr108998	Chr11:70543040-70543051 (-)	2,424 bp
Tssr108997	Chr11:70543022-70543033 (-)	2,442 bp
Tssr108996	Chr11:70542990-70543020 (-)	2,465 bp
Tssr108995	Chr11:70542924-70542980 (-)	2,518 bp
Tssr108994	Chr11:70542902-70542913 (-)	2,562 bp
Tssr108993	Chr11:70542695-70542699 (-)	2,773 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