InnateDB Protein
|
IDBP-85717.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
ZDHHC9
|
Protein Name
|
zinc finger, DHHC-type containing 9
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000349689
|
InnateDB Gene
|
IDBG-85713 (ZDHHC9)
|
Protein Structure
|
|
Function |
The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS. {ECO:0000269PubMed:16000296}.
|
Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:16000296}; Multi-pass membrane protein {ECO:0000269PubMed:16000296}. Golgi apparatus membrane {ECO:0000269PubMed:16000296}; Multi-pass membrane protein {ECO:0000269PubMed:16000296}.
|
Disease Associations |
Mental retardation, X-linked, syndromic, ZDHHC9-related (MRXSZ) [MIM:300799]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Some MRXSZ patients have marfanoid habitus as an additional feature. {ECO:0000269PubMed:17436253, ECO:0000269PubMed:19377476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes. {ECO:0000269PubMed:16000296}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
1
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001594
Zinc finger, DHHC-type, palmitoyltransferase
|
PFAM |
PF01529
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9Y397
|
PhosphoSite |
PhosphoSite-Q9Y397
|
TrEMBL |
Q5JYE8
|
UniProt Splice Variant |
|
Entrez Gene |
51114
|
UniGene |
Hs.712158
|
RefSeq |
NP_057116
|
HUGO |
HGNC:18475
|
OMIM |
300646
|
CCDS |
CCDS35395
|
HPRD |
06759
|
IMGT |
|
EMBL |
AB209807
AF151847
AK001424
AK001524
AL034405
AL161962
AL359542
AY358558
AY952881
BC000035
BC003128
BC006200
BC012826
CH471107
|
GenPept |
AAD34084
AAH00035
AAH03128
AAH06200
AAH12826
AAQ88922
ACF60379
BAA91683
BAA91740
BAD93044
CAB82308
CAI42069
CAI42905
EAX11823
EAX11824
EAX11825
|
|
|