CRPPA CDP-L-ribitol pyrophosphorylase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRPPAprovided by HGNC
Official Full Name: CDP-L-ribitol pyrophosphorylase Aprovided by HGNC
Primary source: HGNC:HGNC:37276
See related: Ensembl:ENSG00000214960 MIM:614631
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Nip; ISPD; hISPD; MDDGA7; MDDGC7; LGMDR20
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all

Genomic context

Location:: 7p21.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (16087525..16421538, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (16127152..16460947, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan.
Title: ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.
data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized.
Title: ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family.
Title: ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.
Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC.
Title: Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.
study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively
Title: A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.
study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families
Title: ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy
Title: Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.
TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
Title: Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.
Title: Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Title: ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 MedGen: C3553330 OMIM: 614643 GeneReviews: Congenital Muscular Dystrophy Overview	Compare labs
Impact of four loci on serum tamsulosin hydrochloride concentration. GeneReviews: Not available
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 MedGen: C4015095 OMIM: 616052 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

G42357 (e-PCR)
- UniSTS:94216

D11S2921 (e-PCR)
- UniSTS:152074

RH48528 (e-PCR)
- UniSTS:70926

D8S2279 (e-PCR)
- UniSTS:473907

RH79611 (e-PCR)
- UniSTS:84276

GDB:1317788 (e-PCR)
- UniSTS:46645

D1S1423 (e-PCR)
- UniSTS:149619

GDB:1318026 (e-PCR)
- UniSTS:42374

SHGC-82972 (e-PCR)
- UniSTS:101258

SHGC-105041 (e-PCR)
- UniSTS:169109

RH93972 (e-PCR)
- UniSTS:84900

SHGC-58155 (e-PCR)
- UniSTS:59320

GDB:335751 (e-PCR)
- UniSTS:156601

GDB:1317458 (e-PCR)
- UniSTS:57030

RH119193 (e-PCR)
- UniSTS:138702

G65701 (e-PCR)
- UniSTS:225495

Homology

Homologs of the CRPPA gene: The CRPPA gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 319 organisms have orthologs with human gene CRPPA
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
D-ribitol-5-phosphate cytidylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
D-ribitol-5-phosphate cytidylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
cytidylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytidylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
axon guidance	IEA Inferred from Electronic Annotation more info
isoprenoid biosynthetic process	IEA Inferred from Electronic Annotation more info
protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein O-linked mannosylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: D-ribitol-5-phosphate cytidylyltransferase

Names: 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 protein Li 97

NP_001094887.1

EC 2.7.7.40

NP_001094896.1

EC 2.7.7.40

NP_001355126.1

EC 2.7.7.40

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032690.2 RefSeqGene

Range

4785..338798

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001101417.4 → NP_001094887.1 D-ribitol-5-phosphate cytidylyltransferase isoform b

See identical proteins and their annotated locations for NP_001094887.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC004741, AC006035, AC073629, AC079155

UniProtKB/Swiss-Prot

A4D126

UniProtKB/TrEMBL

A0A140VJM1

Related

ENSP00000382249.3, ENST00000399310.3

Conserved Domains (1) summary

cd02516
Location:47 → 223

CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
NM_001101426.4 → NP_001094896.1 D-ribitol-5-phosphate cytidylyltransferase isoform a

See identical proteins and their annotated locations for NP_001094896.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (a).

Source sequence(s)

AC004741, AC006035, AC073629, AC079155

UniProtKB/Swiss-Prot

A4D126

Related

ENSP00000385478.2, ENST00000407010.7

Conserved Domains (1) summary

cd02516
Location:47 → 273

CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
NM_001368197.1 → NP_001355126.1 D-ribitol-5-phosphate cytidylyltransferase isoform c

Status: REVIEWED

Source sequence(s)

AC004741, AC006035, AC073629, AC079155