Gmppa MGI Mouse Gene Detail - MGI:1916330 - GDP-mannose pyrophosphorylase A

Symbol

Gmppa
Name

GDP-mannose pyrophosphorylase A
Synonyms

1810012N01Rik

Feature Type

protein coding gene
IDs

MGI:1916330
NCBI Gene: 69080
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:75412574-75419823 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 39.04 cM, cytoband C3
Mapping Data

2 experiments

SNPs within 2kb

256 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916330	protein coding gene	Chr1:75412555-75419823 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016187	protein coding gene	Chr1:76008606-76015894 (+)
A/J	MGP_AJ_G0016170	protein coding gene	Chr1:73359024-73366287 (+)
AKR/J	MGP_AKRJ_G0016127	protein coding gene	Chr1:75395070-75402352 (+)
BALB/cJ	MGP_BALBcJ_G0016125	protein coding gene	Chr1:73422294-73429598 (+)
C3H/HeJ	MGP_C3HHeJ_G0015956	protein coding gene	Chr1:75725326-75732605 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016578	protein coding gene	Chr1:78957930-78967194 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014299	protein coding gene	Chr1:68918213-68925479 (+)
CAST/EiJ	MGP_CASTEiJ_G0015540	protein coding gene	Chr1:75070573-75077880 (+)
CBA/J	MGP_CBAJ_G0015929	protein coding gene	Chr1:81525354-81538351 (+)
DBA/2J	MGP_DBA2J_G0016030	protein coding gene	Chr1:72678581-72686486 (+)
FVB/NJ	MGP_FVBNJ_G0016033	protein coding gene	Chr1:71883101-71890328 (+)
LP/J	MGP_LPJ_G0016102	protein coding gene	Chr1:77134283-77141549 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016053	protein coding gene	Chr1:84875635-84884161 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016625	protein coding gene	Chr1:75461392-75469848 (+)
PWK/PhJ	MGP_PWKPhJ_G0015327	protein coding gene	Chr1:72154923-72162280 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015105	protein coding gene	Chr1:74820152-74827411 (+)
WSB/EiJ	MGP_WSBEiJ_G0015602	protein coding gene	Chr1:75272686-75279906 (+)

Human Ortholog

GMPPA, GDP-mannose pyrophosphorylase A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GMPPA, GDP-mannose pyrophosphorylase A
Synonyms

AAMR
Links

HGNC:22923

NCBI Gene ID: 29926

neXtProt AC: NX_Q96IJ6

UniProt: Q96IJ6
Chr Location

2q35; chr2:219498865-219513898 (+) GRCh38

MGI Vertebrate Homology

Gmppa stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: GMPPA
Gene Tree

Gmppa

Diseases

1 with Gmppa mouse models; 1 with human GMPPA associations

Human Disease

Mouse Models

alacrima, achalasia, and impaired intellectual development syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

23 phenotypes from 2 alleles in 2 genetic backgrounds
29 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

14
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

7
Radiation induced

2
Spontaneous

1
Targeted

2
Genomic Mutations

4 involving Gmppa
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit cortical layer defects, progressive neuron loss, myopathic alterations, progressive muscle weakness, cognitive impairments, and increased serum mannose levels.

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All GO Annotations

23
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.

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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

861
Tissues

141
cDNA Data

99
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gmppa

ZFIN gmppab

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All Sequences

119
RefSeq

42
UniProt

10
CCDS

CCDS15072.1

Ensembl

ENSMUSG00000033021 (Evidence)
NCBI Gene

69080

			Length	Strain/Species	Flank
genomic	ENSMUSG00000033021	Ensembl Gene Model \| MGI Sequence Detail	7250	C57BL/6J	± kb
transcript	ENSMUST00000037796	Ensembl \| MGI Sequence Detail	1539	Not Applicable
polypeptide	ENSMUSP00000035564	Ensembl \| MGI Sequence Detail	420	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000008075 mannose-1-phosphate guanyltransferase alpha

(term hierarchy)
InterPro Domains

IPR001451 Hexapeptide repeat

IPR018357 Hexapeptide transferase, conserved site

IPR050486 Mannose-1-phosphate guanyltransferase

IPR029044 Nucleotide-diphospho-sugar transferases

IPR005835 Nucleotidyl transferase domain

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All nucleic 100

cDNA 99

Other 1

Microarray probesets 5

Summaries

All 56

Developmental Gene Expression 3

Diseases 2

Gene Ontology 6

Phenotypes 29
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Gmppa:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7530	Chr1:75412581-75412636 (+)	35 bp
Tssr7531	Chr1:75412646-75412657 (+)	78 bp
Tssr7532	Chr1:75415871-75415882 (+)	3,303 bp
Tssr7533	Chr1:75417650-75417672 (+)	5,087 bp
Tssr7534	Chr1:75419016-75419033 (+)	6,451 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