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ISPD isoprenoid synthase domain containing [ Homo sapiens (human) ]

Gene ID: 729920, updated on 25-Jul-2018

Summary

Official Symbol
ISPDprovided by HGNC
Official Full Name
isoprenoid synthase domain containingprovided by HGNC
Primary source
HGNC:HGNC:37276
See related
Ensembl:ENSG00000214960 MIM:614631; Vega:OTTHUMG00000152447
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; hISPD; MDDGA7; MDDGC7; hCG_1745121
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 ISPD in Genome Data Viewer
Location:
7p21.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (16087527..16502500, 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 uncharacterized LOC107986725 Neighboring gene ribosomal protein L36a pseudogene 29 Neighboring gene ISPD antisense RNA 1 Neighboring gene uncharacterized LOC105375168 Neighboring gene sclerostin domain containing 1 Neighboring gene leucine rich repeat containing 72 Neighboring gene ataxin 2 like pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
notch1-induced protein
testicular tissue protein Li 97
NP_001094887.1
NP_001094896.1
XP_006715833.1
XP_011513801.1
XP_011513802.1
XP_011513803.1
XP_011513810.1
XP_011513811.1
XP_016868064.1
XP_016868065.1
XP_016868066.1
XP_016868067.1
XP_024302677.1
XP_024302678.1
XP_024302679.1
XP_024302680.1

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_032690.1 RefSeqGene

    Range
    5001..338796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001101417.3NP_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, OTTHUMP00000201709, ENST00000399310.3, OTTHUMT00000326299
    Conserved Domains (1) summary
    cd02516
    Location:47223
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  2. NM_001101426.3NP_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 longer isoform (a).
    Source sequence(s)
    AC004741, AC006035, AC073629, AC079155
    UniProtKB/Swiss-Prot
    A4D126
    Related
    ENSP00000385478.2, OTTHUMP00000201687, ENST00000407010.6, OTTHUMT00000326252
    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    16087527..16502500 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446910.1XP_024302678.1  D-ribitol-5-phosphate cytidylyltransferase isoform X6

    Conserved Domains (1) summary
    cl11394
    Location:1172
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  2. XM_024446911.1XP_024302679.1  D-ribitol-5-phosphate cytidylyltransferase isoform X8

    Conserved Domains (1) summary
    cl11394
    Location:1159
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_024446909.1XP_024302677.1  D-ribitol-5-phosphate cytidylyltransferase isoform X6

    Conserved Domains (1) summary
    cl11394
    Location:1172
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  4. XM_011515508.2XP_011513810.1  D-ribitol-5-phosphate cytidylyltransferase isoform X6

    See identical proteins and their annotated locations for XP_011513810.1

    Conserved Domains (1) summary
    cl11394
    Location:1172
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  5. XM_011515500.2XP_011513802.1  D-ribitol-5-phosphate cytidylyltransferase isoform X3

    Conserved Domains (1) summary
    cd02516
    Location:47260
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  6. XM_006715770.3XP_006715833.1  D-ribitol-5-phosphate cytidylyltransferase isoform X4

    Conserved Domains (1) summary
    cd02516
    Location:4190
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  7. XM_011515509.2XP_011513811.1  D-ribitol-5-phosphate cytidylyltransferase isoform X6

    See identical proteins and their annotated locations for XP_011513811.1

    Conserved Domains (1) summary
    cl11394
    Location:1172
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  8. XM_017012577.1XP_016868066.1  D-ribitol-5-phosphate cytidylyltransferase isoform X10

  9. XM_017012578.1XP_016868067.1  D-ribitol-5-phosphate cytidylyltransferase isoform X11

  10. XM_017012575.1XP_016868064.1  D-ribitol-5-phosphate cytidylyltransferase isoform X1

  11. XM_011515499.2XP_011513801.1  D-ribitol-5-phosphate cytidylyltransferase isoform X2

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  12. XM_017012576.1XP_016868065.1  D-ribitol-5-phosphate cytidylyltransferase isoform X7

  13. XM_011515501.2XP_011513803.1  D-ribitol-5-phosphate cytidylyltransferase isoform X5

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  14. XM_024446912.1XP_024302680.1  D-ribitol-5-phosphate cytidylyltransferase isoform X9

    Conserved Domains (1) summary
    cd02516
    Location:4190
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

RNA

  1. XR_001744868.1 RNA Sequence

  2. XR_001744866.1 RNA Sequence

  3. XR_001744864.1 RNA Sequence

  4. XR_001744865.1 RNA Sequence

  5. XR_001744867.1 RNA Sequence

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