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CDP-L-ribitol pyrophosphorylase A

Summary

Gene Symbol

CRPPA

Aliases

4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)
D-ribitol-5-phosphate cytidylyltransferase
IspD
Nip
hCG_1745121
notch1-induced protein

Organism

Homo sapiens (human)

External Links

NCBI Gene

729920

HGNC

37276

KEGG Gene ID

hsa:729920

PubChem

729920

Alliance of Genome Resources

HGNC:37276

Annotation

Keyword

3D-structure
Alternative splicing
Congenital muscular dystrophy
Cytoplasm
Disease variant
Dystroglycanopathy
Limb-girdle muscular dystrophy
Lissencephaly
Nucleotidyltransferase
Reference proteome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A140VJM1	2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein Isoprenoid synthase domain-containing protein
A4D126	2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein Isoprenoid synthase domain-containing protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
isoprenoid biosynthetic process	IEA
axon guidance	IEA
protein O-linked mannosylation	IBA IMP	22522420 22522421

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

biosynthetic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

isoprenoid biosynthetic process

cellular metabolic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

isoprenoid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

isoprenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

isoprenoid biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

isoprenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

isoprenoid biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation [inference]

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

isoprenoid biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

isoprenoid biosynthetic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

Displaying 1 entry
GO Term	Evidence Code	PMID
cytosol	IBA IDA	26687144

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

Displaying **all 3** entries
GO Term	Evidence Code	PMID
D-ribitol-5-phosphate cytidylyltransferase activity	IBA IDA	26687144
protein homodimerization activity	IDA	26687144
cytidylyltransferase activity	IDA	26687144

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring phosphorus-containing groups [inference]

nucleotidyltransferase activity [inference]

cytidylyltransferase activity

D-ribitol-5-phosphate cytidylyltransferase activity

binding [inference]

protein binding [inference]

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K21031

Name

D-ribitol-5-phosphate cytidylyltransferase [EC:2.7.7.40]

References

26923585

Rhea

RHEA:12456

H⁺ + CTP + D-ribitol 5-phosphate

diphosphate + CDP-L-ribitol

Enzyme

2.7.7.40

PMID

13911452

Disease

Disease Ontology

Displaying entries **11 - 20** of **106** in total

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DO ID	Disease Name	Source
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET DisGeNET
DOID:0060278	pontocerebellar hypoplasia type 9	DisGeNET DisGeNET
DOID:0060282	persistent hyperplastic primary vitreous	DisGeNET
DOID:0060287	cornea plana	DisGeNET DisGeNET
DOID:0060469	Miller-Dieker lissencephaly syndrome	DisGeNET DisGeNET
DOID:0060673	Peters anomaly	DisGeNET DisGeNET
DOID:0060807	syndromic X-linked intellectual disability Najm type	DisGeNET DisGeNET
DOID:0060857	septooptic dysplasia	DisGeNET
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **81 - 90** of **120** in total

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HPO ID	HPO Term
HP:0002792	Reduced vital capacity
HP:0003198	Myopathy
HP:0003202	Skeletal muscle atrophy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003324	Generalized muscle weakness
HP:0003325	Limb-girdle muscle weakness
HP:0003326	Myalgia
HP:0003394	Muscle spasm
HP:0003457	EMG abnormality
HP:0003458	EMG: myopathic abnormalities

Displaying **all 6** entries
Disease ID	Disease Name
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability
ORPHA:352479	autosomal recessive limb-girdle muscular dystrophy type 2U
OMIM:616052	autosomal recessive limb-girdle muscular dystrophy type 2U
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:614643	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP012377
Gene Name: isoprenoid synthase domain containing

Ortholog

Displaying entries **11 - 20** of 34 in total

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Species	Gene ID	Orthologous MAtrix
Pan troglodytes	744905	PANTR39748
Pongo abelii	100436260	PONAB33726
Ailuropoda melanoleuca	100477709	AILME14636
Mustela putorius furo	101685841	MUSPF17497
Felis catus	101092257	FELCA03452
Panthera leo	122208353	PANLE23267
Tursiops truncatus	101316792	TURTR14626
Balaenoptera musculus	118900802	BALMU12488
Loxodonta africana	100658658	LOXAF17662
Equus caballus	100065851	HORSE33072

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Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements