• Gene id: 729920

Gene Summary

• Gene Symbol: CRPPA   Gene   UCSC   Ensembl
• Aliases: ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD
• Gene name: CDP-L-ribitol pyrophosphorylase A
• Alternate names: D-ribitol-5-phosphate cytidylyltransferase, 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein, 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog, isoprenoid synthase domain containing, notch1-induced protein, testicular tissue prot,
• Gene location: 7p21.2 (16421537: 16087524)     Exons: 10     NC_000007.14
• Gene summary(Entrez): This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
• OMIM: 617328

Protein Summary

• Protein general information: A4D126  
  • Name: D ribitol 5 phosphate cytidylyltransferase (EC 2.7.7.40) (2 C methyl D erythritol 4 phosphate cytidylyltransferase like protein) (Isoprenoid synthase domain containing protein) (hISPD)
  • Length: 451  
  • Mass: 49873
  • Tissue specificity: Ubiquitously expressed, with high expression in brain. {ECO
• Sequence:

  MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCPILERP
  LISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAEDQINSKLSKPE
  VVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRASEMPQAFLFDVIYEA
  YQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKERISQEICVVMDTEEDNKHVGH
  LLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQETQKLLSMLEESSLCILYPVVVVSVH
  FLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQKLQESLRQGAIIIASLIKERNSGLIGQLLI
  A

• Structural information:
  • Interpro: IPR034683  IPR040635  IPR018294  IPR029044  
  • Prosite: PS01295
  • CDD: cd02516
  • PDB: 4CVH
  • PDBsum: 4CVH
  • STRING: ENSP00000385478
• Other Databases: GeneCards:  CRPPA  Malacards:  CRPPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070567	cytidylyltransferase activity	IBA	molecular function
GO:0047349	D-ribitol-5-phosphate cytidylyltransferase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0070567	cytidylyltransferase activity	IDA	molecular function
GO:0047349	D-ribitol-5-phosphate cytidylyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0035269	protein O-linked mannosylation	IMP	biological process
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0070567	cytidylyltransferase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0047349	D-ribitol-5-phosphate cytidylyltransferase activity	IEA	molecular function
GO:0007411	axon guidance	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00040	Pentose and glucuronate interconversions
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray