CRPPA

Protein identityUniProt · HPA

UniProt accession

A4D126

Gene

CRPPA

Ensembl

ENSG00000214960

Chromosome

7

Canonical length

451 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli fibrillar center

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

451 residues, UniProt reviewed canonical sequence.

>A4D126|CRPPA
     1  MEAGPPGSAR PAEPGPCLSG QRGADHTASA SLQSVAGTEP GRHPQAVAAV LPAGGCGERM
    61  GVPTPKQFCP ILERPLISYT LQALERVCWI KDIVVAVTGE NMEVMKSIIQ KYQHKRISLV
   121  EAGVTRHRSI FNGLKALAED QINSKLSKPE VVIIHDAVRP FVEEGVLLKV VTAAKEHGAA
   181  GAIRPLVSTV VSPSADGCLD YSLERARHRA SEMPQAFLFD VIYEAYQQCS DYDLEFGTEC
   241  LQLALKYCCT KAKLVEGSPD LWKVTYKRDL YAAESIIKER ISQEICVVMD TEEDNKHVGH
   301  LLEEVLKSEL NHVKVTSEAL GHAGRHLQQI ILDQCYNFVC VNVTTSDFQE TQKLLSMLEE
   361  SSLCILYPVV VVSVHFLDFK LVPPSQKMEN LMQIREFAKE VKERNILLYG LLISYPQDDQ
   421  KLQESLRQGA IIIASLIKER NSGLIGQLLI A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRPPA can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

8.6 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRPPA.

Disease | AllUniProt

Conditions CRPPA is implicated in, by any mechanism.

• Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) MIM:614643
• Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) MIM:616052

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 748 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
• Autosomal recessive limb-girdle muscular dystrophy type 2U
• Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
• ISPD-related disorder
• Muscular dystrophy-dystroglycanopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.82

gnomAD pLI

0

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon guidance
• isoprenoid biosynthetic process
• protein O-linked glycosylation via mannose

Molecular functions

• protein homodimerization activity
• cytidylyltransferase activity
• D-ribitol-5-phosphate cytidylyltransferase activity

Cellular components

• cytosol

Protein domainsUniProt · Pfam · InterPro

• Nucleotide-diphospho-sugar transferases
• 4-diphosphocytidyl-2C-methyl-D-erythritol synthase, conserved site
• Cytidylyltransferase IspD/TarI
• D-ribitol-5-phosphate cytidylyltransferase, C-terminal
• 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase
• D-ribitol-5-phosphate cytidylyltransferase C-terminal domain

KeywordsUniProt

• Congenital muscular dystrophy
• Cytoplasm
• Dystroglycanopathy
• Limb-girdle muscular dystrophy
• Lissencephaly
• Nucleotidyltransferase
• Transferase