Homo sapiens Gene: SPG21
Summary
InnateDB Gene IDBG-16930.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SPG21
Gene Name spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000090487
Encoded Proteins
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. At least three different transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:64963021-64990310
Strand Reverse strand
Band q22.31
Transcripts
ENST00000204566 ENSP00000204566
ENST00000416889 ENSP00000394846
ENST00000433215 ENSP00000404111
ENST00000559199 ENSP00000456365
ENST00000561078 ENSP00000452865
ENST00000558765 ENSP00000452728
ENST00000557795 ENSP00000453541
ENST00000560564
ENST00000559677 ENSP00000453333
ENST00000558943 ENSP00000453362
ENST00000558415 ENSP00000453167
ENST00000560878 ENSP00000453658
ENST00000558339
ENST00000561088
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated
Total 22 [view]
Protein-Protein 22 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0042609 CD4 receptor binding
Biological Process
GO:0008219 cell death
GO:0050851 antigen receptor-mediated signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010008 endosome membrane
GO:0030140 trans-Golgi network transport vesicle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q9NZD8
TrEMBL H0YLD7 H0YLW1 H0YML6 H3BRR0
UniProt Splice Variant
Entrez Gene 51324
UniGene
RefSeq NM_001127890 NM_001127889 NM_016630 XM_005254437
HUGO HGNC:20373
OMIM 608181
CCDS CCDS45279 CCDS10198
HPRD 10492
IMGT
EMBL AC069368 AC103691 AF208861 AF212231 AK172849 AK301362 BC000244 CH471082
GenPept AAF64275 AAH00244 AAK14917 BAD18813 BAG62906 EAW77704
RNA Seq Atlas 51324