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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
protein O-linked mannosylation	IBA IMP	22522420 22522421
isoprenoid biosynthetic process	IEA
axon guidance	IEA

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase

Functional Category

I: Lipid transport and metabolism
K: Transcription
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
catalytic activity
cytidylyltransferase activity
nucleotidyltransferase activity

Displaying **all 3** entries
InterPro
4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site
Cytidylyltransferase IspD/TarI
Nucleotide-diphospho-sugar transferases

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 **all 3** entries
DO ID	Disease Name	Source
DOID:0050560	Walker-Warburg syndrome	Alliance of Genome Resources
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	Alliance of Genome Resources
DOID:0111234	congenital muscular dystrophy-dystroglycanopathy A7	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **120** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000278	Retrognathia

Displaying **all 6** entries
Disease ID	Disease Name
OMIM:616052	autosomal recessive limb-girdle muscular dystrophy type 2U
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
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
ORPHA:352479	autosomal recessive limb-girdle muscular dystrophy type 2U
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability

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 **1 - 10** of 35 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	75847		MGI:1923097	MOUSE08853
Rattus norvegicus	493574		RGD:1359368	RATNO35992
Xenopus tropicalis	548994		Xenbase:XB-GENE-1014860
Pan troglodytes	744905	9598_0:0023d4		PANTR39748
Danio rerio	798716		ZFIN:ZDB-GENE-061110-16
Equus caballus	100065851			HORSE33072
Oryctolagus cuniculus	100337768			RABIT14426
Callithrix jacchus	100391839			CALJA42914
Pongo abelii	100436260	9601_0:002132		PONAB33726
Ailuropoda melanoleuca	100477709			AILME14636

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Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements