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

Gene ID: 51324, updated on 17-Jun-2019

Summary

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
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

Genomic context

See SPG21 in Genome Data Viewer
Location:
15q22.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (64963022..64989914, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65255363..65282251, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing O2 Neighboring gene ankyrin repeat and death domain containing 1A Neighboring gene uncharacterized LOC107984754 Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene solute carrier family 51 beta subunit Neighboring gene RAS like family 12

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    4968..31893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127889.5NP_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
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Related
    ENSP00000404111.2, ENST00000433215.6
    Conserved Domains (1) summary
    cl26327
    Location:45147
    Abhydrolase_1; alpha/beta hydrolase fold
  2. NM_001127890.5NP_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:59120
    Abhydrolase_1; alpha/beta hydrolase fold
  3. NM_016630.7NP_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
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Related
    ENSP00000204566.2, ENST00000204566.7
    Conserved Domains (1) summary
    cl26327
    Location:45147
    Abhydrolase_1; alpha/beta hydrolase fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005254437.4XP_005254494.1  maspardin isoform X1

    See identical proteins and their annotated locations for XP_005254494.1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (1) summary
    cl26327
    Location:45147
    Abhydrolase_1; alpha/beta hydrolase fold
  2. XM_017022297.1XP_016877786.1  maspardin isoform X1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (1) summary
    cl26327
    Location:45147
    Abhydrolase_1; alpha/beta hydrolase fold
  3. XM_017022298.1XP_016877787.1  maspardin isoform X1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (1) summary
    cl26327
    Location:45147
    Abhydrolase_1; alpha/beta hydrolase fold
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