Pum1 MGI Mouse Gene Detail - MGI:1931749 - pumilio RNA-binding family member 1

Symbol

Pum1
Name

pumilio RNA-binding family member 1
Synonyms

mKIAA0099, Pumm

Feature Type

protein coding gene
IDs

MGI:1931749
NCBI Gene: 80912
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr4:130390632-130508875 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 63.43 cM
Mapping Data

2 experiments

SNPs within 2kb

424 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1931749	protein coding gene	Chr4:130390509-130508875 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028853	protein coding gene	Chr4:132688009-132820485 (+)
A/J	MGP_AJ_G0028812	protein coding gene	Chr4:127193142-127316365 (+)
AKR/J	MGP_AKRJ_G0028765	protein coding gene	Chr4:130770928-130892484 (+)
BALB/cJ	MGP_BALBcJ_G0028835	protein coding gene	Chr4:127807348-127930482 (+)
C3H/HeJ	MGP_C3HHeJ_G0028549	protein coding gene	Chr4:130988877-131110665 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029277	protein coding gene	Chr4:137479113-137614833 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026549	protein coding gene	Chr4:120306218-120420866 (+)
CAST/EiJ	MGP_CASTEiJ_G0027982	protein coding gene	Chr4:129028985-129152301 (+)
CBA/J	MGP_CBAJ_G0028515	protein coding gene	Chr4:140986458-141115665 (+)
DBA/2J	MGP_DBA2J_G0028664	protein coding gene	Chr4:127628179-127746098 (+)
FVB/NJ	MGP_FVBNJ_G0028631	protein coding gene	Chr4:126434991-126561169 (+)
LP/J	MGP_LPJ_G0028765	protein coding gene	Chr4:132838628-132970053 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028657	protein coding gene	Chr4:145684187-145821713 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029315	protein coding gene	Chr4:131136666-131264480 (+)
PWK/PhJ	MGP_PWKPhJ_G0027703	protein coding gene	Chr4:124261074-124382942 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027529	protein coding gene	Chr4:126996270-127122304 (+)
WSB/EiJ	MGP_WSBEiJ_G0028062	protein coding gene	Chr4:131282459-131408295 (+)

Human Ortholog

PUM1, pumilio RNA binding family member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PUM1, pumilio RNA binding family member 1
Synonyms

HSPUM, NEDMSF, PUMH, PUMH1, PUML1, SCA47
Links

HGNC:14957

NCBI Gene ID: 9698

UniProt: Q14671
Chr Location

1p35.2; chr1:30931506-31065991 (-) GRCh38

MGI Vertebrate Homology

Pum1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PUM1
Gene Tree

Pum1

Diseases

1 with human PUM1 associations

				Human Disease	Mouse Models
				cerebellar ataxia type 47 IDs cerebellar ataxia type 47 DOID:0111743 OMIM:620719 ORDO:589515

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

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Phenotype Summary

12 phenotypes from 4 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
34 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

303
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

289
Radiation induced

1
Targeted

8
Genomic Mutations

4 involving Pum1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

168 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules.

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All GO Annotations

57
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

795
Tissues

52
cDNA Data

24
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 pum1

ZFIN pum1

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All Sequences

175
RefSeq

100
UniProt

9
CCDS

CCDS18710.1, CCDS51311.1, CCDS51312.1, CCDS51313.1, CCDS51314.1

Ensembl

ENSMUSG00000028580 (Evidence)
NCBI Gene

80912

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028580	Ensembl Gene Model \| MGI Sequence Detail	118244	C57BL/6J	± kb
transcript	ENSMUST00000030315	Ensembl \| MGI Sequence Detail	5389	Not Applicable
polypeptide	ENSMUSP00000030315	Ensembl \| MGI Sequence Detail	1189	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000013492 pumilio homolog 1

(term hierarchy)
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR033133 Pumilio homology domain

IPR033712 Pumilio, RNA binding domain

IPR001313 Pumilio RNA-binding repeat
GlyGen

Q80U78 8 sites, 1 O-linked glycan (7 sites)

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All nucleic 32

Genomic 1

cDNA 26

Primer pair 4

Other 1

Microarray probesets 4

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MGI:2140159

Summaries

All 75

Developmental Gene Expression 13

Gene Ontology 13

Phenotypes 34
Earliest

J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
Latest

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

TSS for Pum1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39239	Chr4:130390523-130390535 (+)	-103 bp
Tssr39240	Chr4:130390588-130390605 (+)	-35 bp
Tssr39241	Chr4:130390664-130390723 (+)	62 bp
Tssr39242	Chr4:130390728-130390731 (+)	98 bp
Tssr1313	Chr4:130390985-130391012 (+)	367 bp
Tssr39243	Chr4:130391113-130391116 (+)	483 bp
Tssr39244	Chr4:130397513-130397517 (+)	6,883 bp
Tssr39245	Chr4:130408172-130408176 (+)	17,542 bp
Tssr39246	Chr4:130408556-130408558 (+)	17,925 bp
Tssr39248	Chr4:130454951-130454955 (+)	64,321 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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