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Protein

Maspardin

Gene

SPG21

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role as a negative regulatory factor in CD4-dependent T-cell activation.1 Publication

GO - Molecular functioni

  • CD4 receptor binding Source: UniProtKB

GO - Biological processi

  • antigen receptor-mediated signaling pathway Source: UniProtKB

Protein family/group databases

ESTHERihuman-SPG21 Maspardin-ACP33-SPG21_like

Names & Taxonomyi

Protein namesi
Recommended name:
Maspardin
Alternative name(s):
Acid cluster protein 33
Spastic paraplegia 21 autosomal recessive Mast syndrome protein
Spastic paraplegia 21 protein
Gene namesi
Name:SPG21
Synonyms:ACP33
ORF Names:BM-019, GL010
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000090487.10
HGNCiHGNC:20373 SPG21
MIMi608181 gene
neXtProtiNX_Q9NZD8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 21, autosomal recessive (SPG21)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities.
See also OMIM:248900

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi109S → A: Abolishes interaction with CD4. 1 Publication1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi51324
MalaCardsiSPG21
MIMi248900 phenotype
OpenTargetsiENSG00000090487
Orphaneti101001 Autosomal recessive spastic paraplegia type 21
PharmGKBiPA134921126

Polymorphism and mutation databases

DMDMi74734726

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002279801 – 308MaspardinAdd BLAST308

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei304PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NZD8
MaxQBiQ9NZD8
PaxDbiQ9NZD8
PeptideAtlasiQ9NZD8
PRIDEiQ9NZD8
ProteomicsDBi83377
83378 [Q9NZD8-2]

PTM databases

iPTMnetiQ9NZD8
PhosphoSitePlusiQ9NZD8

Expressioni

Tissue specificityi

Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000090487 Expressed in 231 organ(s), highest expression level in liver
CleanExiHS_SPG21
ExpressionAtlasiQ9NZD8 baseline and differential
GenevisibleiQ9NZD8 HS

Organism-specific databases

HPAiHPA040407
HPA040436

Interactioni

Subunit structurei

Interacts with CD4. Interacts with ALDH16A1.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119474, 44 interactors
IntActiQ9NZD8, 165 interactors
MINTiQ9NZD8
STRINGi9606.ENSP00000204566

Structurei

3D structure databases

ProteinModelPortaliQ9NZD8
SMRiQ9NZD8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 159AB hydrolase-1Sequence analysisAdd BLAST73

Sequence similaritiesi

Belongs to the AB hydrolase superfamily.Curated

Phylogenomic databases

eggNOGiENOG410IETY Eukaryota
ENOG410XPCG LUCA
GeneTreeiENSGT00390000007857
HOGENOMiHOG000236323
HOVERGENiHBG080704
InParanoidiQ9NZD8
KOiK19367
OMAiGIDFMVD
OrthoDBiEOG091G0GY0
PhylomeDBiQ9NZD8
TreeFamiTF105253

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR026151 Maspardin
PANTHERiPTHR15913 PTHR15913, 1 hit
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZD8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP
60 70 80 90 100
PVSGTADVFF RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL
110 120 130 140 150
DKVHLFGASL GGFLAQKFAE YTHKSPRVHS LILCNSFSDT SIFNQTWTAN
160 170 180 190 200
SFWLMPAFML KKIVLGNFSS GPVDPMMADA IDFMVDRLES LGQSELASRL
210 220 230 240 250
TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK LYPNARRAHL
260 270 280 290 300
KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS

LGISQEEQ
Length:308
Mass (Da):34,960
Last modified:October 1, 2000 - v1
Checksum:i83C4F7B4B3EDEC7C
GO
Isoform 2 (identifier: Q9NZD8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     76-102: Missing.

Note: No experimental confirmation available.
Show »
Length:281
Mass (Da):31,585
Checksum:i90AD940048A485DE
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRR0H3BRR0_HUMAN
Maspardin
SPG21
154Annotation score:
H0YMB7H0YMB7_HUMAN
Maspardin
SPG21
141Annotation score:
H0YKB0H0YKB0_HUMAN
Maspardin
SPG21
150Annotation score:
H0YKM6H0YKM6_HUMAN
Maspardin
SPG21
129Annotation score:
H0YLT5H0YLT5_HUMAN
Maspardin
SPG21
102Annotation score:
H0YLW1H0YLW1_HUMAN
Maspardin
SPG21
71Annotation score:
H0YLD7H0YLD7_HUMAN
Maspardin
SPG21
53Annotation score:
H0YML6H0YML6_HUMAN
Maspardin
SPG21
40Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti40R → Q in BAG62906 (PubMed:14702039).Curated1
Sequence conflicti58V → A in BAG62906 (PubMed:14702039).Curated1
Sequence conflicti210E → V in BAD18813 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04151276 – 102Missing in isoform 2. 1 PublicationAdd BLAST27

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF208861 mRNA Translation: AAF64275.1
AF212231 mRNA Translation: AAK14917.1
AK172849 mRNA Translation: BAD18813.1
AK301362 mRNA Translation: BAG62906.1
AC069368 Genomic DNA No translation available.
AC103691 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77704.1
BC000244 mRNA Translation: AAH00244.1
CCDSiCCDS10198.1 [Q9NZD8-1]
CCDS45279.1 [Q9NZD8-2]
RefSeqiNP_001121361.1, NM_001127889.4 [Q9NZD8-1]
NP_001121362.1, NM_001127890.4 [Q9NZD8-2]
NP_057714.1, NM_016630.6 [Q9NZD8-1]
XP_005254494.1, XM_005254437.4 [Q9NZD8-1]
XP_016877786.1, XM_017022297.1 [Q9NZD8-1]
XP_016877787.1, XM_017022298.1 [Q9NZD8-1]
UniGeneiHs.242458

Genome annotation databases

EnsembliENST00000204566; ENSP00000204566; ENSG00000090487 [Q9NZD8-1]
ENST00000416889; ENSP00000394846; ENSG00000090487 [Q9NZD8-2]
ENST00000433215; ENSP00000404111; ENSG00000090487 [Q9NZD8-1]
GeneIDi51324
KEGGihsa:51324
UCSCiuc002aod.5 human [Q9NZD8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF208861 mRNA Translation: AAF64275.1
AF212231 mRNA Translation: AAK14917.1
AK172849 mRNA Translation: BAD18813.1
AK301362 mRNA Translation: BAG62906.1
AC069368 Genomic DNA No translation available.
AC103691 Genomic DNA No translation available.
CH471082 Genomic DNA Translation: EAW77704.1
BC000244 mRNA Translation: AAH00244.1
CCDSiCCDS10198.1 [Q9NZD8-1]
CCDS45279.1 [Q9NZD8-2]
RefSeqiNP_001121361.1, NM_001127889.4 [Q9NZD8-1]
NP_001121362.1, NM_001127890.4 [Q9NZD8-2]
NP_057714.1, NM_016630.6 [Q9NZD8-1]
XP_005254494.1, XM_005254437.4 [Q9NZD8-1]
XP_016877786.1, XM_017022297.1 [Q9NZD8-1]
XP_016877787.1, XM_017022298.1 [Q9NZD8-1]
UniGeneiHs.242458

3D structure databases

ProteinModelPortaliQ9NZD8
SMRiQ9NZD8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119474, 44 interactors
IntActiQ9NZD8, 165 interactors
MINTiQ9NZD8
STRINGi9606.ENSP00000204566

Protein family/group databases

ESTHERihuman-SPG21 Maspardin-ACP33-SPG21_like

PTM databases

iPTMnetiQ9NZD8
PhosphoSitePlusiQ9NZD8

Polymorphism and mutation databases

DMDMi74734726

Proteomic databases

EPDiQ9NZD8
MaxQBiQ9NZD8
PaxDbiQ9NZD8
PeptideAtlasiQ9NZD8
PRIDEiQ9NZD8
ProteomicsDBi83377
83378 [Q9NZD8-2]

Protocols and materials databases

DNASUi51324
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000204566; ENSP00000204566; ENSG00000090487 [Q9NZD8-1]
ENST00000416889; ENSP00000394846; ENSG00000090487 [Q9NZD8-2]
ENST00000433215; ENSP00000404111; ENSG00000090487 [Q9NZD8-1]
GeneIDi51324
KEGGihsa:51324
UCSCiuc002aod.5 human [Q9NZD8-1]

Organism-specific databases

CTDi51324
DisGeNETi51324
EuPathDBiHostDB:ENSG00000090487.10
GeneCardsiSPG21
HGNCiHGNC:20373 SPG21
HPAiHPA040407
HPA040436
MalaCardsiSPG21
MIMi248900 phenotype
608181 gene
neXtProtiNX_Q9NZD8
OpenTargetsiENSG00000090487
Orphaneti101001 Autosomal recessive spastic paraplegia type 21
PharmGKBiPA134921126
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IETY Eukaryota
ENOG410XPCG LUCA
GeneTreeiENSGT00390000007857
HOGENOMiHOG000236323
HOVERGENiHBG080704
InParanoidiQ9NZD8
KOiK19367
OMAiGIDFMVD
OrthoDBiEOG091G0GY0
PhylomeDBiQ9NZD8
TreeFamiTF105253

Miscellaneous databases

ChiTaRSiSPG21 human
GeneWikiiSPG21
GenomeRNAii51324
PROiPR:Q9NZD8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090487 Expressed in 231 organ(s), highest expression level in liver
CleanExiHS_SPG21
ExpressionAtlasiQ9NZD8 baseline and differential
GenevisibleiQ9NZD8 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000073 AB_hydrolase_1
IPR026151 Maspardin
PANTHERiPTHR15913 PTHR15913, 1 hit
PfamiView protein in Pfam
PF00561 Abhydrolase_1, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSPG21_HUMAN
AccessioniPrimary (citable) accession number: Q9NZD8
Secondary accession number(s): B4DW44, Q6ZMB6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 1, 2000
Last modified: September 12, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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