Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9NZD8 (SPG21_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Maspardin
Alternative name(s):
Acid cluster protein 33
Spastic paraplegia 21 autosomal recessive Mast syndrome protein
Spastic paraplegia 21 protein
Gene names
Name:SPG21
Synonyms:ACP33
ORF Names:BM-019, GL010
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length308 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with CD4. Interacts with ALDH16A1. Ref.1 Ref.10

Subcellular location

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

Tissue specificity

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). Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the AB hydrolase superfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NZD8-1)

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.
Isoform 2 (identifier: Q9NZD8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     76-102: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 308308Maspardin
PRO_0000227980

Amino acid modifications

Modified residue3041Phosphoserine Ref.11

Natural variations

Alternative sequence76 – 10227Missing in isoform 2.
VSP_041512

Experimental info

Mutagenesis1091S → A: Abolishes interaction with CD4. Ref.1
Sequence conflict401R → Q in BAG62906. Ref.4
Sequence conflict581V → A in BAG62906. Ref.4
Sequence conflict2101E → V in BAD18813. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 83C4F7B4B3EDEC7C

FASTA30834,960
        10         20         30         40         50         60 
MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP PVSGTADVFF 

        70         80         90        100        110        120 
RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL DKVHLFGASL GGFLAQKFAE 

       130        140        150        160        170        180 
YTHKSPRVHS LILCNSFSDT SIFNQTWTAN SFWLMPAFML KKIVLGNFSS GPVDPMMADA 

       190        200        210        220        230        240 
IDFMVDRLES LGQSELASRL TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK 

       250        260        270        280        290        300 
LYPNARRAHL KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS 


LGISQEEQ 

« Hide

Isoform 2 [UniParc].

Checksum: 90AD940048A485DE
Show »

FASTA28131,585

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001121361.1. NM_001127889.3.
NP_001121362.1. NM_001127890.3.
NP_057714.1. NM_016630.5.
XP_005254493.1. XM_005254436.2.
XP_005254494.1. XM_005254437.2.
UniGeneHs.242458.

3D structure databases

ProteinModelPortalQ9NZD8.
SMRQ9NZD8. Positions 37-139.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119474. 16 interactions.
IntActQ9NZD8. 13 interactions.
MINTMINT-1443026.
STRING9606.ENSP00000204566.

PTM databases

PhosphoSiteQ9NZD8.

Polymorphism databases

DMDM74734726.

Proteomic databases

PaxDbQ9NZD8.
PRIDEQ9NZD8.

Protocols and materials databases

DNASU51324.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000204566; ENSP00000204566; ENSG00000090487. [Q9NZD8-1]
ENST00000416889; ENSP00000394846; ENSG00000090487. [Q9NZD8-2]
ENST00000433215; ENSP00000404111; ENSG00000090487. [Q9NZD8-1]
GeneID51324.
KEGGhsa:51324.
UCSCuc002aod.3. human. [Q9NZD8-1]
uc010bhb.3. human. [Q9NZD8-2]

Organism-specific databases

CTD51324.
GeneCardsGC15M065255.
HGNCHGNC:20373. SPG21.
HPAHPA040436.
MIM248900. phenotype.
608181. gene.
neXtProtNX_Q9NZD8.
Orphanet101001. Autosomal recessive spastic paraplegia type 21.
PharmGKBPA134921126.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG77636.
HOGENOMHOG000236323.
HOVERGENHBG080704.
InParanoidQ9NZD8.
OMAPHKIKDV.
OrthoDBEOG7F5120.
PhylomeDBQ9NZD8.
TreeFamTF105253.

Gene expression databases

ArrayExpressQ9NZD8.
BgeeQ9NZD8.
CleanExHS_SPG21.
GenevestigatorQ9NZD8.

Family and domain databases

InterProIPR026151. Maspardin.
[Graphical view]
PANTHERPTHR15913. PTHR15913. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSPG21. human.
GeneWikiSPG21.
GenomeRNAi51324.
NextBio54722.
PROQ9NZD8.
SOURCESearch...

Entry information

Entry nameSPG21_HUMAN
AccessionPrimary (citable) accession number: Q9NZD8
Secondary accession number(s): B4DW44, Q6ZMB6
Entry history
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM