Pmm1 MGI Mouse Gene Detail - MGI:1353418

Symbol

Pmm1
Name

phosphomannomutase 1
Synonyms

Secp53 (yeast) homolog

Feature Type

protein coding gene
IDs

MGI:1353418
NCBI Gene: 29858
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr15:81835309-81845131 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 38.30 cM
Mapping Data

3 experiments

SNPs within 2kb

417 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1353418	protein coding gene	Chr15:81835307-81845131 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0022127	protein coding gene	Chr15:82425620-82435444 (-)
A/J	MGP_AJ_G0022088	protein coding gene	Chr15:79515084-79524913 (-)
AKR/J	MGP_AKRJ_G0022063	protein coding gene	Chr15:81712591-81722420 (-)
BALB/cJ	MGP_BALBcJ_G0022094	protein coding gene	Chr15:79561143-79570964 (-)
C3H/HeJ	MGP_C3HHeJ_G0021865	protein coding gene	Chr15:81734795-81744619 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0022537	protein coding gene	Chr15:85661934-85672277 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020065	protein coding gene	Chr15:75962217-75971603 (-)
CAST/EiJ	MGP_CASTEiJ_G0021384	protein coding gene	Chr15:82517802-82527709 (-)
CBA/J	MGP_CBAJ_G0021829	protein coding gene	Chr15:88325059-88337727 (-)
DBA/2J	MGP_DBA2J_G0021959	protein coding gene	Chr15:78987038-78996866 (-)
FVB/NJ	MGP_FVBNJ_G0021936	protein coding gene	Chr15:78032070-78042058 (-)
LP/J	MGP_LPJ_G0022027	protein coding gene	Chr15:82570135-82579952 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021957	protein coding gene	Chr15:93257421-93267252 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022551	protein coding gene	Chr15:81811852-81821679 (-)
PWK/PhJ	MGP_PWKPhJ_G0021127	protein coding gene	Chr15:79035690-79046139 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0020966	protein coding gene	Chr15:81600576-81610314 (-)
WSB/EiJ	MGP_WSBEiJ_G0021437	protein coding gene	Chr15:82232890-82244758 (-)

Human Ortholog

PMM1, phosphomannomutase 1

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PMM1, phosphomannomutase 1
Synonyms

PMM 1, PMMH-22, Sec53
Links

HGNC:9114

NCBI Gene ID: 5372

neXtProt AC: NX_Q92871

UniProt: Q92871
Chr Location

22q13.2; chr22:41576900-41589871 (-) GRCh38

MGI Vertebrate Homology

Pmm1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PMM1
Gene Tree

Pmm1

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References

1 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
31 phenotype references

All Mutations and Alleles

31
Chemically induced (other)

1
Gene trapped

25
Radiation induced

2
Targeted

3
Genomic Mutations

3 involving Pmm1
Incidental Mutations

APF
Find Mice (IMSR)

33 strains or lines available

Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns.

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All GO Annotations

15
GO References

8

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

867
Tissues

141
cDNA Data

68
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pmm1

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All Sequences

61
RefSeq

7
UniProt

6
CCDS

CCDS27678.1, CCDS70650.1

Ensembl

ENSMUSG00000022474 (Evidence)
NCBI Gene

29858

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022474	Ensembl Gene Model \| MGI Sequence Detail	9823	C57BL/6J	± kb
transcript	ENSMUST00000023112	Ensembl \| MGI Sequence Detail	1300	Not Applicable
polypeptide	ENSMUSP00000023112	Ensembl \| MGI Sequence Detail	262	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012907 phosphomannomutase 1

(term hierarchy)
EC

5.4.2.8
InterPro Domains

IPR036412 HAD-like superfamily

IPR023214 HAD superfamily

IPR006379 HAD-superfamily hydrolase, subfamily IIB

IPR005002 Phosphomannomutase

IPR043169 Phosphomannomutase, cap domain

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All nucleic 71

Genomic 1

cDNA 69

Other 1

Microarray probesets 4

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MGI:2146277

Summaries

All 64

Developmental Gene Expression 4

Diseases 1

Gene Ontology 8

Phenotypes 31
Earliest

J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
Latest

J:285676 Suzuki A, et al., Genes and microRNAs associated with mouse cleft palate: A systematic review and bioinformatics analysis. Mech Dev. 2018 Apr;150:21-27

TSS for Pmm1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr135518	Chr15:81845052-81845073 (-)	68 bp
Tssr135517	Chr15:81845019-81845047 (-)	98 bp
Tssr135516	Chr15:81845002-81845013 (-)	123 bp
Tssr135515	Chr15:81840398-81840442 (-)	4,711 bp
Tssr135514	Chr15:81839904-81839933 (-)	5,212 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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