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Q9NZD8

- SPG21_HUMAN

UniProt

Q9NZD8 - SPG21_HUMAN

Protein

Maspardin

Gene

SPG21

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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

    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 membrane Source: UniProtKB-SubCell
    4. nucleus Source: HPA
    5. trans-Golgi network transport vesicle Source: UniProtKB

    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

    ArrayExpressiQ9NZD8.
    BgeeiQ9NZD8.
    CleanExiHS_SPG21.
    GenevestigatoriQ9NZD8.

    Organism-specific databases

    HPAiHPA040436.

    Interactioni

    Subunit structurei

    Interacts with CD4. Interacts with ALDH16A1.2 Publications

    Protein-protein interaction databases

    BioGridi119474. 16 interactions.
    IntActiQ9NZD8. 13 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.
    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

    MGEIKVSPDY NWFRGTVPLK KIIVDDDDSK IWSLYDAGPR SIRCPLIFLP    50
    PVSGTADVFF RQILALTGWG YRVIALQYPV YWDHLEFCDG FRKLLDHLQL 100
    DKVHLFGASL GGFLAQKFAE YTHKSPRVHS LILCNSFSDT SIFNQTWTAN 150
    SFWLMPAFML KKIVLGNFSS GPVDPMMADA IDFMVDRLES LGQSELASRL 200
    TLNCQNSYVE PHKIRDIPVT IMDVFDQSAL STEAKEEMYK LYPNARRAHL 250
    KTGGNFPYLC RSAEVNLYVQ IHLLQFHGTK YAAIDPSMVS AEELEVQKGS 300
    LGISQEEQ 308
    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_001127889.3. [Q9NZD8-1]
    NP_001121362.1. NM_001127890.3. [Q9NZD8-2]
    NP_057714.1. NM_016630.5. [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_001127889.3. [Q9NZD8-1 ]
    NP_001121362.1. NM_001127890.3. [Q9NZD8-2 ]
    NP_057714.1. NM_016630.5. [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. 13 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.
    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

    ArrayExpressi Q9NZD8.
    Bgeei Q9NZD8.
    CleanExi HS_SPG21.
    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

    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 1, 2014
    This is version 113 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