Psmf1 MGI Mouse Gene Detail - MGI:1346072 - proteasome (prosome, macropain) inhibitor subunit 1

Symbol

Psmf1
Name

proteasome (prosome, macropain) inhibitor subunit 1
Synonyms

PI31

Feature Type

protein coding gene
IDs

MGI:1346072
NCBI Gene: 228769
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr2:151557982-151586114 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 74.83 cM
Mapping Data

1 experiment

SNPs within 2kb

626 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1346072	protein coding gene	Chr2:151557732-151586114 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0026645	protein coding gene	Chr2:156209124-156238802 (-)
A/J	MGP_AJ_G0026611	protein coding gene	Chr2:149998028-150026061 (-)
AKR/J	MGP_AKRJ_G0026581	protein coding gene	Chr2:154364754-154392947 (-)
BALB/cJ	MGP_BALBcJ_G0026620	protein coding gene	Chr2:150308009-150336208 (-)
C3H/HeJ	MGP_C3HHeJ_G0026363	protein coding gene	Chr2:154754691-154782863 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0027069	protein coding gene	Chr2:160774542-160810652 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024440	protein coding gene	Chr2:143614189-143643173 (-)
CAST/EiJ	MGP_CASTEiJ_G0025824	protein coding gene	Chr2:154982459-155013611 (-)
CBA/J	MGP_CBAJ_G0026341	protein coding gene	Chr2:166645050-166675565 (-)
DBA/2J	MGP_DBA2J_G0026477	protein coding gene	Chr2:149212854-149240867 (-)
FVB/NJ	MGP_FVBNJ_G0026442	protein coding gene	Chr2:147656907-147685118 (-)
LP/J	MGP_LPJ_G0026581	protein coding gene	Chr2:156380362-156409534 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026464	protein coding gene	Chr2:170811445-170843973 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027124	protein coding gene	Chr2:154247009-154275191 (-)
PWK/PhJ	MGP_PWKPhJ_G0025558	protein coding gene	Chr2:148738656-148768120 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0025361	protein coding gene	Chr2:153084171-153114954 (-)
WSB/EiJ	MGP_WSBEiJ_G0025894	protein coding gene	Chr2:155161559-155194028 (-)

Human Ortholog

PSMF1, proteasome inhibitor subunit 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PSMF1, proteasome inhibitor subunit 1
Synonyms

PI31
Links

HGNC:9571

NCBI Gene ID: 9491

neXtProt AC: NX_Q92530

UniProt: Q92530
Chr Location

20p13; chr20:1113240-1189415 (+) GRCh38

MGI Vertebrate Homology

Psmf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PSMF1
Gene Tree

Psmf1

less

Phenotype Summary

31 phenotypes from 4 alleles in 6 genetic backgrounds
14 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

15
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

6
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Psmf1
Incidental Mutations

Mutagenetix , CvDC
Find Mice (IMSR)

13 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die perinatally and are small by E15.5.

less

All GO Annotations

20
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.

less

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

944
Tissues

53
cDNA Data

92
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase psmf1

ZFIN psmf1

less

All Sequences

66
RefSeq

6
UniProt

5
CCDS

CCDS16872.1, CCDS16873.1

Ensembl

ENSMUSG00000032869 (Evidence)
NCBI Gene

228769

			Length	Strain/Species	Flank
genomic	228769	NCBI Gene Model \| MGI Sequence Detail	28133	C57BL/6J	± kb
transcript	NM_212446	RefSeq \| MGI Sequence Detail	3559	C57BL/6
polypeptide	Q8BHL8	UniProt \| EBI \| MGI Sequence Detail	271	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000013396 proteasome inhibitor PI31 subunit

(term hierarchy)
InterPro Domains

IPR013886 PI31 proteasome regulator, C-terminal

IPR021625 PI31 proteasome regulator, N-terminal

IPR045128 Proteasome inhibitor PI31-like

less

All nucleic 92

cDNA 92

Microarray probesets 8

less

MGI:2139277, MGI:2385157

Summaries

All 44

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 14
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Psmf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26753	Chr2:151586126-151586131 (-)	-15 bp
Tssr26752	Chr2:151586062-151586125 (-)	20 bp
Tssr26751	Chr2:151583156-151583229 (-)	2,921 bp
Tssr26750	Chr2:151583142-151583146 (-)	2,970 bp
Tssr26749	Chr2:151583128-151583138 (-)	2,981 bp
Tssr26748	Chr2:151583092-151583097 (-)	3,019 bp
Tssr26747	Chr2:151583076-151583090 (-)	3,031 bp
Tssr26746	Chr2:151571847-151571886 (-)	14,247 bp
Tssr26745	Chr2:151571484-151571498 (-)	14,623 bp
Tssr26744	Chr2:151560582-151560604 (-)	25,521 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 11/12/2024 MGI 6.24