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

Gene ID: 729920, updated on 7-May-2016
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; 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]
Orthologs
Location:
7p21.2
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (15916851..16530558, 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 ISPD antisense RNA 1 Neighboring gene uncharacterized LOC105375168 Neighboring gene sclerostin domain containing 1 Neighboring gene uncharacterized LOC105375169 Neighboring gene leucine rich repeat containing 72 Neighboring gene ataxin 2 like pseudogene Neighboring gene ankyrin repeat and MYND domain containing 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Clone Names

  • FLJ42815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Preferred Names
isoprenoid synthase domain-containing protein
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

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  isoprenoid synthase domain-containing protein 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
    Related
    ENSP00000382249, OTTHUMP00000201709, ENST00000399310, 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  isoprenoid synthase domain-containing protein 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, OTTHUMP00000201687, ENST00000407010, 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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    15916851..16530558 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515498.1XP_011513800.1  

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  2. XM_011515506.1XP_011513808.1  

    See identical proteins and their annotated locations for XP_011513808.1

    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
  3. XM_011515505.1XP_011513807.1  

    See identical proteins and their annotated locations for XP_011513807.1

    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
  4. XM_011515502.1XP_011513804.1  

    See identical proteins and their annotated locations for XP_011513804.1

    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_011515504.1XP_011513806.1  

    See identical proteins and their annotated locations for XP_011513806.1

    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
  6. XM_011515507.1XP_011513809.1  

    See identical proteins and their annotated locations for XP_011513809.1

    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
  7. XM_011515503.1XP_011513805.1  

    See identical proteins and their annotated locations for XP_011513805.1

    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_011515508.1XP_011513810.1  

    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
  9. XM_011515500.1XP_011513802.1  

    Conserved Domains (1) summary
    cd02516
    Location:47260
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  10. XM_006715770.2XP_006715833.1  

    Conserved Domains (1) summary
    cd02516
    Location:4190
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  11. XM_011515509.1XP_011513811.1  

    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
  12. XM_011515497.1XP_011513799.1  

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  13. XM_011515499.1XP_011513801.1  

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  14. XM_011515501.1XP_011513803.1  

    Conserved Domains (1) summary
    cd02516
    Location:47273
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  15. XM_011515511.1XP_011513813.1  

    Conserved Domains (1) summary
    cd02516
    Location:47228
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production
  16. XM_011515510.1XP_011513812.1  

    Conserved Domains (1) summary
    cd02516
    Location:47232
    CDP-ME_synthetase; CDP-ME synthetase is involved in mevalonate-independent isoprenoid production

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    16126841..16460716 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)