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ISPD

GENERAL INFORMATION

Gene name

 ISPD

Gene description

 Isoprenoid synthase domain containing

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and/or nuclear expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA043810
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 ISPD (HGNC Symbol)

Synonyms

 hCG_1745121, IspD, Nip

Description

 Isoprenoid synthase domain containing (HGNC Symbol)

Entrez gene 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]

Chromosome

 7

Cytoband

 p21.2

Chromosome location (bp)

 16087527 - 16421322

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000214960 (version 83.38)

Entrez gene

 729920

UniProt

 A4D126 (UniProt - Evidence at protein level)

neXtProt

 NX_A4D126

Antibodypedia

 ISPD antibodies

PROTEIN BROWSER
ISPD-001
ISPD-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ISPD-001
ENSP00000385478
ENST00000407010
A4D126 [Direct mapping]
Isoprenoid synthase domain-containing protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0006486 [protein glycosylation]
GO:0007411 [axon guidance]
GO:0008299 [isoprenoid biosynthetic process]
GO:0035269 [protein O-linked mannosylation]
GO:0050518 [2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity]
Show all
 451 aa
49.9 kDa 		No 0
ISPD-003
ENSP00000382249
ENST00000399310
A4D126 [Direct mapping]
Isoprenoid synthase domain-containing protein
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0003824 [catalytic activity]
GO:0008299 [isoprenoid biosynthetic process]
GO:0035269 [protein O-linked mannosylation]
GO:0050518 [2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity]
Show all
 401 aa
44.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.