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SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome) [ Homo sapiens (human) ]

Gene ID: 51324, updated on 26-May-2016
Official Symbol
SPG21provided by HGNC
Official Full Name
spastic paraplegia 21 (autosomal recessive, Mast syndrome)provided by HGNC
Primary source
HGNC:HGNC:20373
See related
Ensembl:ENSG00000090487 HPRD:10492; MIM:608181; Vega:OTTHUMG00000133098
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; 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]
Orthologs
Location:
15q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (64963021..64989946, 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 mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene solute carrier family 51 beta subunit Neighboring gene RAS like family 12

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
cytoplasm IDA
Inferred from Direct Assay
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 
Preferred Names
maspardin
Names
acid cluster protein 33

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_001127889.4NP_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, BI554234, DA680695
    Consensus CDS
    CCDS10198.1
    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Related
    ENSP00000404111, OTTHUMP00000248245, ENST00000433215, OTTHUMT00000418142
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. NM_001127890.4NP_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, DB477175
    Consensus CDS
    CCDS45279.1
    UniProtKB/Swiss-Prot
    Q9NZD8
    Related
    ENSP00000394846, OTTHUMP00000248247, ENST00000416889, OTTHUMT00000418144
    Conserved Domains (1) summary
    pfam12697
    Location:46232
    Abhydrolase_6; Alpha/beta hydrolase family
  3. NM_016630.6NP_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, DB477175
    Consensus CDS
    CCDS10198.1
    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Related
    ENSP00000204566, OTTHUMP00000164130, ENST00000204566, OTTHUMT00000256758
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    64963021..64989946 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254437.3XP_005254494.1  

    See identical proteins and their annotated locations for XP_005254494.1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. XM_005254436.3XP_005254493.1  

    See identical proteins and their annotated locations for XP_005254493.1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  3. XM_006720564.2XP_006720627.1  

    See identical proteins and their annotated locations for XP_006720627.1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  4. XM_011521662.1XP_011519964.1  

    See identical proteins and their annotated locations for XP_011519964.1

    UniProtKB/Swiss-Prot
    Q9NZD8
    UniProtKB/TrEMBL
    A0A024R5Y1
    Conserved Domains (2) summary
    pfam12697
    Location:46259
    Abhydrolase_6; Alpha/beta hydrolase family
    cl21494
    Location:44133
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    65375221..65402140 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)