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Q9NZD8

- SPG21_HUMAN

UniProt

Q9NZD8 - SPG21_HUMAN

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Protein

Maspardin

Gene

SPG21

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. CD4 receptor binding Source: UniProtKB

GO - Biological processi

  1. antigen receptor-mediated signaling pathway Source: UniProtKB
  2. cell death Source: UniProtKB-KW
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:20373. SPG21.

Subcellular locationi

Cytoplasmcytosol 1 Publication. Membrane 1 Publication; Peripheral membrane protein 1 Publication. Endosome membrane 1 Publication; Peripheral membrane protein 1 Publication. Golgi apparatustrans-Golgi network membrane 1 Publication; Peripheral membrane protein 1 Publication
Note: Partially localized in the cytosol but also accumulated on an intracellular vesicular compartment. Colocalizes with CD4 on endosomal/trans-Golgi network.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytosol Source: UniProtKB
  3. endosome Source: UniProtKB-KW
  4. membrane Source: UniProtKB-KW
  5. nucleus Source: HPA
  6. trans-Golgi network transport vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 21, autosomal recessive (SPG21) [MIM:248900]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi109 – 1091S → A: Abolishes interaction with CD4. 1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi248900. phenotype.
Orphaneti101001. Autosomal recessive spastic paraplegia type 21.
PharmGKBiPA134921126.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 308308MaspardinPRO_0000227980Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei304 – 3041Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NZD8.
PaxDbiQ9NZD8.
PRIDEiQ9NZD8.

PTM databases

PhosphoSiteiQ9NZD8.

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

BgeeiQ9NZD8.
CleanExiHS_SPG21.
ExpressionAtlasiQ9NZD8. baseline and differential.
GenevestigatoriQ9NZD8.

Organism-specific databases

HPAiHPA040436.

Interactioni

Subunit structurei

Interacts with CD4. Interacts with ALDH16A1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
taxP034103EBI-742688,EBI-9676218From a different organism.

Protein-protein interaction databases

BioGridi119474. 16 interactions.
IntActiQ9NZD8. 17 interactions.
MINTiMINT-1443026.
STRINGi9606.ENSP00000204566.

Structurei

3D structure databases

ProteinModelPortaliQ9NZD8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AB hydrolase superfamily.Curated

Phylogenomic databases

eggNOGiNOG77636.
GeneTreeiENSGT00390000007857.
HOGENOMiHOG000236323.
HOVERGENiHBG080704.
InParanoidiQ9NZD8.
OMAiSLQYPVY.
OrthoDBiEOG7F5120.
PhylomeDBiQ9NZD8.
TreeFamiTF105253.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR026151. Maspardin.
[Graphical view]
PANTHERiPTHR15913. PTHR15913. 1 hit.
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401R → Q in BAG62906. (PubMed:14702039)Curated
Sequence conflicti58 – 581V → A in BAG62906. (PubMed:14702039)Curated
Sequence conflicti210 – 2101E → V in BAD18813. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei76 – 10227Missing in isoform 2. 1 PublicationVSP_041512Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005254493.1. XM_005254436.2. [Q9NZD8-1]
XP_005254494.1. XM_005254437.2. [Q9NZD8-1]
XP_006720627.1. XM_006720564.1. [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.3. human. [Q9NZD8-1]
uc010bhb.3. human. [Q9NZD8-2]

Polymorphism databases

DMDMi74734726.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10198.1. [Q9NZD8-1 ]
CCDS45279.1. [Q9NZD8-2 ]
RefSeqi NP_001121361.1. NM_001127889.4. [Q9NZD8-1 ]
NP_001121362.1. NM_001127890.4. [Q9NZD8-2 ]
NP_057714.1. NM_016630.6. [Q9NZD8-1 ]
XP_005254493.1. XM_005254436.2. [Q9NZD8-1 ]
XP_005254494.1. XM_005254437.2. [Q9NZD8-1 ]
XP_006720627.1. XM_006720564.1. [Q9NZD8-1 ]
UniGenei Hs.242458.

3D structure databases

ProteinModelPortali Q9NZD8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119474. 16 interactions.
IntActi Q9NZD8. 17 interactions.
MINTi MINT-1443026.
STRINGi 9606.ENSP00000204566.

PTM databases

PhosphoSitei Q9NZD8.

Polymorphism databases

DMDMi 74734726.

Proteomic databases

MaxQBi Q9NZD8.
PaxDbi Q9NZD8.
PRIDEi Q9NZD8.

Protocols and materials databases

DNASUi 51324.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000204566 ; ENSP00000204566 ; ENSG00000090487 . [Q9NZD8-1 ]
ENST00000416889 ; ENSP00000394846 ; ENSG00000090487 . [Q9NZD8-2 ]
ENST00000433215 ; ENSP00000404111 ; ENSG00000090487 . [Q9NZD8-1 ]
GeneIDi 51324.
KEGGi hsa:51324.
UCSCi uc002aod.3. human. [Q9NZD8-1 ]
uc010bhb.3. human. [Q9NZD8-2 ]

Organism-specific databases

CTDi 51324.
GeneCardsi GC15M065255.
HGNCi HGNC:20373. SPG21.
HPAi HPA040436.
MIMi 248900. phenotype.
608181. gene.
neXtProti NX_Q9NZD8.
Orphaneti 101001. Autosomal recessive spastic paraplegia type 21.
PharmGKBi PA134921126.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG77636.
GeneTreei ENSGT00390000007857.
HOGENOMi HOG000236323.
HOVERGENi HBG080704.
InParanoidi Q9NZD8.
OMAi SLQYPVY.
OrthoDBi EOG7F5120.
PhylomeDBi Q9NZD8.
TreeFami TF105253.

Miscellaneous databases

ChiTaRSi SPG21. human.
GeneWikii SPG21.
GenomeRNAii 51324.
NextBioi 54722.
PROi Q9NZD8.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZD8.
CleanExi HS_SPG21.
ExpressionAtlasi Q9NZD8. baseline and differential.
Genevestigatori Q9NZD8.

Family and domain databases

Gene3Di 3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR026151. Maspardin.
[Graphical view ]
PANTHERi PTHR15913. PTHR15913. 1 hit.
SUPFAMi SSF53474. SSF53474. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of ACP33 as a novel intracellular ligand of CD4."
    Zeitlmann L., Sirim P., Kremmer E., Kolanus W.
    J. Biol. Chem. 276:9123-9132(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH CD4, MUTAGENESIS OF SER-109.
  2. "A novel gene expressed in human bone marrow."
    Zhao M., Song H., Li N., Peng Y., Han Z., Chen Z.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Bone marrow.
  3. "A novel gene expressed in human liver non-tumor tissues."
    Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.
    Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Synovium.
  5. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye.
  8. "Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia."
    Simpson M.A., Cross H., Proukakis C., Pryde A., Hershberger R., Chatonnet A., Patton M.A., Crosby A.H.
    Am. J. Hum. Genet. 73:1147-1156(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SPG21.
  9. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1."
    Hanna M.C., Blackstone C.
    Neurogenetics 10:217-228(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ALDH16A1.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-304, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSPG21_HUMAN
AccessioniPrimary (citable) accession number: Q9NZD8
Secondary accession number(s): B4DW44, Q6ZMB6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 114 of the entry and version 1 of the sequence. [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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3