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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 **21 - 30** of **106** in total

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DO ID	Disease Name	Source
DOID:0080092	myofibrillar myopathy 1	DisGeNET
DOID:0080094	myofibrillar myopathy 3	DisGeNET
DOID:0090130	cortical dysplasia-focal epilepsy syndrome	DisGeNET
DOID:0090132	complex cortical dysplasia with other brain malformations 7	DisGeNET DisGeNET
DOID:0090137	complex cortical dysplasia with other brain malformations 1	DisGeNET DisGeNET
DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly	DisGeNET DisGeNET
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	DisGeNET DisGeNET DisGeNET
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	DisGeNET DisGeNET DisGeNET
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A	DisGeNET DisGeNET DisGeNET
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	DisGeNET DisGeNET DisGeNET

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
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 **1 - 10** of 34 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	798716	ZFIN:ZDB-GENE-061110-16
Xenopus laevis	108718486	Xenbase:XB-GENE-17334330
Xenopus tropicalis	548994	Xenbase:XB-GENE-1014860
Chrysemys picta bellii	101946437		CHRPI33030
Crocodylus porosus	109309368		CROPO02034
Serinus canaria	103812855		SERCA05401
Ornithorhynchus anatinus	103171116		ORNAN26481
Callithrix jacchus	100391839		CALJA42914
Gorilla gorilla gorilla	101141405		GORGO39179
Pan paniscus	100989529		PANPA35859

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements