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    SPG21 SPG21 abhydrolase domain containing, maspardin [ Homo sapiens (human) ]

    Gene ID: 51324, updated on 7-Apr-2024

    Summary

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    Official Symbol
    SPG21provided by HGNC
    Official Full Name
    SPG21 abhydrolase domain containing, maspardinprovided by HGNC
    Primary source
    HGNC:HGNC:20373
    See related
    Ensembl:ENSG00000090487 MIM:608181; AllianceGenome:HGNC:20373
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAST; ACP33; GL010; ABHD21; BM-019
    Summary
    The protein encoded by this gene 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. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
    Expression
    Ubiquitous expression in thyroid (RPKM 30.9), placenta (RPKM 23.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPG21 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (64963022..64989914, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62772442..62799314, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65255363..65282252, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65134214-65134737 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65134770-65135321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65138202-65138761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:65138762-65139320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65143675-65144621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65146039-65146607 Neighboring gene pleckstrin homology domain containing O2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65159077-65159756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65186997-65187595 Neighboring gene Sharpr-MPRA regulatory region 6079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65204313-65204856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65207564-65208064 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene Sharpr-MPRA regulatory region 9291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65223351-65224228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239186-65239686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65239687-65240187 Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:65281459-65281960 and GRCh37_chr15:65281961-65282460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9590 Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9591 Neighboring gene SLC51 subunit beta Neighboring gene RAS like family 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21]. Gao GS, et al. Zhonghua Gan Zang Bing Za Zhi, 2010 Dec. PMID 21205478
    2. The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. Cross HE, et al. Arch Neurol, 1967 Jan. PMID 6024251
    3. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Hanna MC, et al. Neurogenetics, 2009 Jul. PMID 19184135, Free PMC Article
    4. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Simpson MA, et al. Am J Hum Genet, 2003 Nov. PMID 14564668, Free PMC Article
    5. Cloning of ACP33 as a novel intracellular ligand of CD4. Zeitlmann L, et al. J Biol Chem, 2001 Mar 23. PMID 11113139

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HBV X gene enhanced SPG21 gene promoter activity, SPG21 mRNA expression and SPG21 protein production in HepG2 cells in a dose-dependent manner.
      Title: [Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21].
    2. Data report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments, and that maspardin interacts with the aldehyde dehydrogenase ALDH16A1.
      Title: Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
    3. frameshift results in the premature termination of the encoded product, which is designated "maspardin" (Mast syndrome, spastic paraplegia, autosomal recessive with dementia)
      Title: Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mast syndrome
    MedGen: C1855346 OMIM: 248900 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CD4 receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CD4 receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antigen receptor-mediated signaling pathway IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in trans-Golgi network transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network transport vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    maspardin
    Names
    SPG21, maspardin
    acid cluster protein 33
    spastic paraplegia 21 (autosomal recessive, Mast syndrome)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008992.2 RefSeqGene

      Range
      5000..31892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127889.5 → NP_001121361.1  maspardin isoform a

      See identical proteins and their annotated locations for NP_001121361.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA179262, AF212231, AI161152, BI258560
      Consensus CDS
      CCDS10198.1
      UniProtKB/Swiss-Prot
      B4DW44, Q6ZMB6, Q9NZD8
      Related
      ENSP00000404111.2, ENST00000433215.6
      Conserved Domains (2) summary
      pfam12697
      Location:46 → 266
      Abhydrolase_6; Alpha/beta hydrolase family
      cl21494
      Location:45 → 147
      Abhydrolase; alpha/beta hydrolases

    2. NM_001127890.5 → NP_001121362.1  maspardin isoform b

      See identical proteins and their annotated locations for NP_001121362.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment and is shorter, compared to isoform a.
      Source sequence(s)
      AI161152, AK301362, BC000244, BI259651, BP268459
      Consensus CDS
      CCDS45279.1
      UniProtKB/Swiss-Prot
      Q9NZD8
      Related
      ENSP00000394846.2, ENST00000416889.6
      Conserved Domains (1) summary
      cl26327
      Location:59 → 120
      Abhydrolase_1; alpha/beta hydrolase fold

    3. NM_016630.7 → NP_057714.1  maspardin isoform a

      See identical proteins and their annotated locations for NP_057714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AI161152, BC000244, BI259651, BP268459
      Consensus CDS
      CCDS10198.1
      UniProtKB/Swiss-Prot
      B4DW44, Q6ZMB6, Q9NZD8
      Related
      ENSP00000204566.2, ENST00000204566.7
      Conserved Domains (2) summary
      pfam12697
      Location:46 → 266
      Abhydrolase_6; Alpha/beta hydrolase family
      cl21494
      Location:45 → 147
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      64963022..64989914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62772442..62799314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZD8.1 GenPept UniProtKB/Swiss-Prot:Q9NZD8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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