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] See more...

Aliases for CRPPA Gene

Aliases for CRPPA Gene

  • CDP-L-Ribitol Pyrophosphorylase A 2 3 5
  • D-Ribitol-5-Phosphate Cytidylyltransferase 2 3 4
  • 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
  • Isoprenoid Synthase Domain Containing 2 3
  • Notch1-Induced Protein 2 3
  • HISPD 3 4
  • ISPD 3 4
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
  • Isoprenoid Synthase Domain-Containing Protein 4
  • Testicular Tissue Protein Li 97 3
  • EC 2.7.7.40 4
  • LGMDR20 3
  • MDDGA7 3
  • MDDGC7 3
  • Nip 3

External Ids for CRPPA Gene

Previous HGNC Symbols for CRPPA Gene

  • ISPD

Summaries for CRPPA Gene

Entrez Gene Summary for CRPPA 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]

GeneCards Summary for CRPPA Gene

CRPPA (CDP-L-Ribitol Pyrophosphorylase A) is a Protein Coding gene. Diseases associated with CRPPA include Muscular Dystrophy-Dystroglycanopathy , Type C, 7 and Muscular Dystrophy-Dystroglycanopathy , Type A, 7. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism.

UniProtKB/Swiss-Prot Summary for CRPPA Gene

  • Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).

Additional gene information for CRPPA Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRPPA Gene

Genomics for CRPPA Gene

GeneHancer (GH) Regulatory Elements for CRPPA Gene

Promoters and enhancers for CRPPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J016419 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.1 +109.3 109277 4.3 E2F8 CTCF ZBTB6 SMARCE1 CREB1 MIXL1 RUNX1 ZNF362 MYC CC2D1A HSALNG0056354 CRPPA AHR MEOX2 ENSG00000272537 LOC105375168
GH07J016345 Enhancer 0.7 Ensembl ENCODE 4.7 +183.3 183257 3.4 SMARCE1 TEAD4 MLLT1 IKZF1 PKNOX1 SOX6 KLF4 NR2C2 MEF2D NFE2 CRPPA piR-38352-497 piR-40110-618
GH07J016464 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 0.2 +65.7 65717 3.7 L3MBTL2 TEAD4 CSDE1 PRDM1 PKNOX1 RFX1 GTF2E2 ATF1 HDAC1 NKRF SOSTDC1 LOC105375168 ENSG00000272537 CRPPA
GH07J016528 Enhancer 0.5 Ensembl 0.6 +2.1 2057 0.6 CREB1 ZNF316 NFE2 MAFG EMSY HSALNG0056356 LRRC72 SOSTDC1 CRPPA
GH07J016490 Enhancer 1 Ensembl ENCODE 0.3 +37.3 37298 4.7 CREB1 L3MBTL2 TEAD4 BCL6B ZNF148 MLLT1 BACH1 SMARCA4 TRIM24 EGR1 SOSTDC1 piR-43105-588 piR-37895-156 CRPPA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRPPA on UCSC Golden Path with GeneCards custom track

Genomic Locations for CRPPA Gene

Genomic Locations for CRPPA Gene
chr7:15,916,851-16,530,558
(GRCh38/hg38)
Size:
613,708 bases
Orientation:
Minus strand
chr7:16,127,152-16,460,947
(GRCh37/hg19)
Size:
333,796 bases
Orientation:
Minus strand

Genomic View for CRPPA Gene

Genes around CRPPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRPPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRPPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRPPA Gene

Proteins for CRPPA Gene

  • Protein details for CRPPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A4D126-ISPD_HUMAN
    Recommended name:
    D-ribitol-5-phosphate cytidylyltransferase
    Protein Accession:
    A4D126
    Secondary Accessions:
    • A8MU35
    • H9KVB2

    Protein attributes for CRPPA Gene

    Size:
    451 amino acids
    Molecular mass:
    49873 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CRPPA Gene

    Alternative splice isoforms for CRPPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRPPA Gene

Post-translational modifications for CRPPA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRPPA Gene

No data available for DME Specific Peptides for CRPPA Gene

Domains & Families for CRPPA Gene

Gene Families for CRPPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CRPPA Gene

Suggested Antigen Peptide Sequences for CRPPA Gene

GenScript: Design optimal peptide antigens:
  • Isoprenoid synthase domain-containing protein (ISPD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A4D126

UniProtKB/Swiss-Prot:

ISPD_HUMAN :
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
Family:
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
genes like me logo Genes that share domains with CRPPA: view

Function for CRPPA Gene

Molecular function for CRPPA Gene

UniProtKB/Swiss-Prot Function:
Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:27130732, PubMed:26687144, PubMed:26923585). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:27130732, PubMed:26687144, PubMed:26923585). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CTP + D-ribitol 5-phosphate + H(+) = CDP-L-ribitol + diphosphate; Xref=Rhea:RHEA:12456, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:57608, ChEBI:CHEBI:57695; EC=2.7.7.40; Evidence={ECO:0000269 PubMed:26687144, ECO:0000269 PubMed:26923585, ECO:0000269 PubMed:27130732};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CTP + D-ribose 5-phosphate + H(+) = CDP-D-ribose + diphosphate; Xref=Rhea:RHEA:53872, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:78346, ChEBI:CHEBI:137525; Evidence={ECO:0000269 PubMed:26687144, ECO:0000269 PubMed:27130732};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=CTP + D-ribulose 5-phosphate + H(+) = CDP-D-ribulose + diphosphate; Xref=Rhea:RHEA:53612, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:58121, ChEBI:CHEBI:137524; Evidence=. ;.

Enzyme Numbers (IUBMB) for CRPPA Gene

Phenotypes From GWAS Catalog for CRPPA Gene

Gene Ontology (GO) - Molecular Function for CRPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0042803 protein homodimerization activity IDA 26687144
GO:0047349 D-ribitol-5-phosphate cytidylyltransferase activity IDA,IBA 26687144
GO:0070567 cytidylyltransferase activity IDA 26687144
genes like me logo Genes that share ontologies with CRPPA: view
genes like me logo Genes that share phenotypes with CRPPA: view

Human Phenotype Ontology for CRPPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CRPPA Gene

miRTarBase miRNAs that target CRPPA

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CRPPA Gene

Localization for CRPPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRPPA Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRPPA gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,IDA 26687144
genes like me logo Genes that share ontologies with CRPPA: view

Pathways & Interactions for CRPPA Gene

genes like me logo Genes that share pathways with CRPPA: view

Pathways by source for CRPPA Gene

UniProtKB/Swiss-Prot A4D126-ISPD_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for CRPPA Gene

Gene Ontology (GO) - Biological Process for CRPPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0007411 axon guidance IEA --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0035269 protein O-linked mannosylation IMP 22522420
genes like me logo Genes that share ontologies with CRPPA: view

No data available for SIGNOR curated interactions for CRPPA Gene

Drugs & Compounds for CRPPA Gene

(3) Drugs for CRPPA Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Diphosphocytidyl-2-C-Methyl-D-Erythritol Experimental Pharma Target 0
Cytidine triphosphate Experimental Pharma Target, Target 0
Pentane-1,5-Diamine Experimental Pharma Target 0
genes like me logo Genes that share compounds with CRPPA: view

Transcripts for CRPPA Gene

mRNA/cDNA for CRPPA Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRPPA Gene

No ASD Table

Relevant External Links for CRPPA Gene

GeneLoc Exon Structure for
CRPPA
ECgene alternative splicing isoforms for
CRPPA

Expression for CRPPA Gene

NURSA nuclear receptor signaling pathways regulating expression of CRPPA Gene:

CRPPA

SOURCE GeneReport for Unigene cluster for CRPPA Gene:

Hs.636502

mRNA Expression by UniProt/SwissProt for CRPPA Gene:

A4D126-ISPD_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in brain.

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRPPA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for CRPPA Gene

Orthologs for CRPPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRPPA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISPD 33 32
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ISPD 33 32
  • 87.66 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ISPD 33 32
  • 86.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ispd 33 32
  • 78.45 (n)
OneToOne
Crppa 17
rat
(Rattus norvegicus)
Mammalia Ispd 32
  • 77.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISPD 33
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISPD 33
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISPD 33 32
  • 68.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISPD 33
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ispd 32
  • 65.12 (n)
zebrafish
(Danio rerio)
Actinopterygii ispd 33 32
  • 55.63 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 43 (a)
OneToOne
Species where no ortholog for CRPPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRPPA Gene

ENSEMBL:
Gene Tree for CRPPA (if available)
TreeFam:
Gene Tree for CRPPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRPPA: view image

Paralogs for CRPPA Gene

Pseudogenes.org Pseudogenes for CRPPA Gene

genes like me logo Genes that share paralogs with CRPPA: view

No data available for Paralogs for CRPPA Gene

Variants for CRPPA Gene

Sequence variations from dbSNP and Humsavar for CRPPA Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1008210645 uncertain-significance, not provided, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 16,376,140(-) T/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1036959263 uncertain-significance, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7, not provided 16,421,163(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1037010291 uncertain-significance, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7, Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 16,421,310(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1048457038 pathogenic-likely-pathogenic, not provided 16,421,139(-) CCCCC/CCCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs111577730 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,089,840(-) C/G 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CRPPA Gene

Variant ID Type Subtype PubMed ID
dgv1092n67 CNV loss 20364138
dgv11220n54 CNV loss 21841781
dgv11221n54 CNV loss 21841781
dgv11222n54 CNV loss 21841781
dgv1185e199 CNV deletion 23128226
dgv1272e214 CNV loss 21293372
dgv224e55 CNV loss 17911159
dgv3501n106 CNV deletion 24896259
dgv3502n106 CNV duplication 24896259
dgv3748e59 CNV duplication 20981092
dgv6289n100 CNV gain 25217958
esv24769 CNV gain+loss 19812545
esv2658278 CNV deletion 23128226
esv2659119 CNV deletion 23128226
esv2661402 CNV deletion 23128226
esv2662783 CNV deletion 23128226
esv2734048 CNV deletion 23290073
esv2734049 CNV deletion 23290073
esv2734050 CNV deletion 23290073
esv2734052 CNV deletion 23290073
esv2734053 CNV deletion 23290073
esv2734054 CNV deletion 23290073
esv2734055 CNV deletion 23290073
esv2759514 CNV loss 17122850
esv3281496 CNV deletion 24192839
esv3308996 CNV mobile element insertion 20981092
esv3379997 CNV insertion 20981092
esv3380217 CNV insertion 20981092
esv34298 CNV loss 17911159
esv3541250 CNV deletion 23714750
esv3571669 CNV loss 25503493
esv3612386 CNV loss 21293372
esv3612387 CNV loss 21293372
esv3612390 CNV loss 21293372
esv3612391 CNV loss 21293372
esv3612392 CNV loss 21293372
esv3612393 CNV gain 21293372
esv3612396 CNV loss 21293372
esv3612397 CNV gain 21293372
esv3891069 CNV loss 25118596
esv3891071 CNV loss 25118596
esv5024 CNV loss 18987735
esv9042 CNV loss 19470904
nsv1017498 CNV loss 25217958
nsv1022814 CNV loss 25217958
nsv1028556 CNV gain 25217958
nsv1030704 CNV loss 25217958
nsv1031019 CNV loss 25217958
nsv1075014 CNV deletion 25765185
nsv1078580 CNV duplication 25765185
nsv1150076 CNV duplication 26484159
nsv1161503 CNV deletion 26073780
nsv366243 CNV deletion 16902084
nsv442031 CNV loss 18776908
nsv464393 CNV loss 19166990
nsv464396 CNV loss 19166990
nsv470133 CNV loss 18288195
nsv478166 CNV novel sequence insertion 20440878
nsv508447 CNV deletion 20534489
nsv511373 CNV loss 21212237
nsv511950 CNV loss 21212237
nsv514407 CNV loss 21397061
nsv517363 CNV loss 19592680
nsv523384 CNV loss 19592680
nsv523408 CNV loss 19592680
nsv5645 CNV insertion 18451855
nsv606313 CNV gain 21841781
nsv606317 CNV gain+loss 21841781
nsv606319 CNV gain 21841781
nsv606321 CNV loss 21841781
nsv606323 CNV loss 21841781
nsv606324 CNV loss 21841781
nsv606325 CNV loss 21841781
nsv8061 CNV loss 18304495
nsv818488 CNV loss 17921354
nsv820033 CNV loss 19587683
nsv821416 CNV deletion 20802225
nsv956985 CNV deletion 24416366

Variation tolerance for CRPPA Gene

Gene Damage Index Score: 6.74; 78.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRPPA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRPPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRPPA Gene

Disorders for CRPPA Gene

MalaCards: The human disease database

(14) MalaCards diseases for CRPPA Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CRPPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ISPD_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:22522420, ECO:0000269 PubMed:22522421, ECO:0000269 PubMed:23217329, ECO:0000269 PubMed:23288328, ECO:0000269 PubMed:24120487}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes. {ECO:0000269 PubMed:23288328, ECO:0000269 PubMed:23390185, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with CRPPA: view

No data available for Genatlas and External Links for CRPPA Gene

Publications for CRPPA Gene

  1. Recent advancements in understanding mammalian O-mannosylation. (PMID: 28810660) Sheikh MO … Wells L (Glycobiology 2017) 2 3 56
  2. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. (PMID: 26687144) Riemersma M … Lefeber DJ (Chemistry & biology 2015) 3 4 56
  3. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. (PMID: 23288328) Cirak S … Muntoni F (Brain : a journal of neurology 2013) 3 4 56
  4. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. (PMID: 23390185) Tasca G … Ricci E (Neurology 2013) 3 4 56
  5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (PMID: 22522420) Willer T … Campbell KP (Nature genetics 2012) 3 4 56

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