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

Gene ID: 729920, updated on 22-Aug-2020

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

Genomic context

See CRPPA in Genome Data Viewer
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_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927558 Neighboring gene uncharacterized LOC105375167 Neighboring gene ribosomal protein L36a pseudogene 29 Neighboring gene CRPPA antisense RNA 1 Neighboring gene uncharacterized LOC105375168 Neighboring gene sclerostin domain containing 1 Neighboring gene leucine rich repeat containing 72

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • FLJ42815

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

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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    A4D126
    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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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