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

Gene ID: 729920, updated on 5-Jul-2025
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; AllianceGenome:HGNC:37276
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
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See CRPPA in Genome Data Viewer
Location:
7p21.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16087525..16421538, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16220757..16551280, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16127150..16461163, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927558 Neighboring gene uncharacterized LOC105375167 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:15821381-15822127 Neighboring gene Sharpr-MPRA regulatory region 14985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:15980075-15980647 Neighboring gene Sharpr-MPRA regulatory region 6485 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:16116228-16117427 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16117754-16118288 Neighboring gene MPRA-validated peak6410 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:16254865-16255366 Neighboring gene ribosomal protein L36a pseudogene 29 Neighboring gene CRPPA antisense RNA 1 Neighboring gene MPRA-validated peak6411 silencer Neighboring gene uncharacterized LOC105375168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:16541518-16542018 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16551577-16552078 Neighboring gene sclerostin domain containing 1 Neighboring gene leucine rich repeat containing 72

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBI GWAS Catalog

Description
Impact of four loci on serum tamsulosin hydrochloride concentration.
EBI GWAS Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • FLJ42815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D-ribitol-5-phosphate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables D-ribitol-5-phosphate cytidylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables D-ribitol-5-phosphate cytidylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables cytidylyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cytidylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in isoprenoid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
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
NP_001094896.1
NP_001355126.1

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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

  1. NG_032690.2 RefSeqGene

    Range
    4785..338798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001101417.4NP_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/TrEMBL
    A0A140VJM1
    Related
    ENSP00000382249.3, ENST00000399310.3
    Conserved Domains (1) summary
    cd02516
    Location:47223
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  2. NM_001101426.4NP_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, A8MU35, H9KVB2
    Related
    ENSP00000385478.2, ENST00000407010.7
    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  3. NM_001368197.1NP_001355126.1  D-ribitol-5-phosphate cytidylyltransferase isoform c

    Status: REVIEWED

    Source sequence(s)
    AC004741, AC006035, AC073629, AC079155

RNA

  1. NR_160656.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC004741, AC006035, AC073629, AC079155

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    16087525..16421538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    16220757..16551280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)