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

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; 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

Location:: 15q22.31

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (64963022..64989914, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (62772442..62799314, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (65255363..65282252, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPG21, a potential oncogene targeted by miR-128-3p, amplifies HBx-induced carcinogenesis and chemoresistance via activation of TRPM7-mediated JNK pathway in hepatocellular carcinoma.
Title: SPG21, a potential oncogene targeted by miR-128-3p, amplifies HBx-induced carcinogenesis and chemoresistance via activation of TRPM7-mediated JNK pathway in hepatocellular carcinoma.
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].
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

WI-20800 (e-PCR)
- UniSTS:41573

D15S1477 (e-PCR)
- UniSTS:474482

D11S3114 (e-PCR)
- UniSTS:152207

RH78128 (e-PCR)
- UniSTS:54957

RH46473 (e-PCR)
- UniSTS:67031

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
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in limb development	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in neuron maturation	IEA Inferred from Electronic Annotation more info
involved_in response to epidermal growth factor	IEA Inferred from Electronic Annotation more info

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

NG_008992.2 RefSeqGene

Range

5000..31892

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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