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MAEL maelstrom spermatogenic transposon silencer [ Homo sapiens (human) ]

Gene ID: 84944, updated on 22-Aug-2020

Summary

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Official Symbol
MAELprovided by HGNC
Official Full Name
maelstrom spermatogenic transposon silencerprovided by HGNC
Primary source
HGNC:HGNC:25929
See related
Ensembl:ENSG00000143194 MIM:611368
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CT128; SPATA35
Expression
Restricted expression toward testis (RPKM 61.7) See more
Orthologs
mouse all

Genomic context

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See MAEL in Genome Data Viewer
Location:
1q24.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (166921121..167022214)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (166958394..166991451)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pogo transposable element derived with KRAB domain Neighboring gene transcriptional adaptor 1 Neighboring gene deoxyuridine triphosphatase pseudogene 6 Neighboring gene immunoglobulin like domain containing receptor 2 Neighboring gene Sharpr-MPRA regulatory region 1052 Neighboring gene RNA, 5S ribosomal pseudogene 65 Neighboring gene uncharacterized LOC105371600 Neighboring gene glycoprotein A33 Neighboring gene serine/threonine/tyrosine interacting like 2

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. Maelstrom Directs Myeloid-Derived Suppressor Cells to Promote Esophageal Squamous Cell Carcinoma Progression via Activation of the Akt1/RelA/IL8 Signaling Pathway. Li P, et al. Cancer Immunol Res, 2018 Oct. PMID 30082413
  2. MAEL promoter hypermethylation is associated with de-repression of LINE-1 in human hypospermatogenesis. Cheng YS, et al. Hum Reprod, 2017 Dec 1. PMID 29095993
  3. MAEL expression links epithelial-mesenchymal transition and stem cell properties in colorectal cancer. Li Q, et al. Int J Cancer, 2016 Dec 1. PMID 27537253
  4. Maelstrom promotes hepatocellular carcinoma metastasis by inducing epithelial-mesenchymal transition by way of Akt/GSK-3β/Snail signaling. Liu L, et al. Hepatology, 2014 Feb. PMID 23929794
  5. Identification of a novel human cancer/testis gene MAEL that is regulated by DNA methylation. Xiao L, et al. Mol Biol Rep, 2010 Jun. PMID 19693694

See all (25) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LINC00511 was confirmed to be beneficial for osteosarcoma development via sponging miR-618 and increasing MAEL expression
    Title: Long intergenic non-protein coding RNA 511 promotes the progression of osteosarcoma cells through sponging microRNA 618 to upregulate the expression of maelstrom.
  2. This study revealed a mechanism by which MAEL could upregulate IL8 through Akt1/RelA to direct myeloid-derived suppressor cells homing into the tumor, suggesting that MAEL could be an attractive therapeutic target and a prognostic marker against esophageal squamous cell carcinoma.
    Title: Maelstrom Directs Myeloid-Derived Suppressor Cells to Promote Esophageal Squamous Cell Carcinoma Progression via Activation of the Akt1/RelA/IL8 Signaling Pathway.
  3. Four sterility-related genes, including BOLL, DDX4, HORMAD1, and MAEL, were found to have increased methylation at CpGs of the promoter regions and decreased mRNA expressions in nonobstructive azoospermia and hypospermatogenesis (HS) testis and are believed to be associated with HS.
    Title: Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.
  4. MAEL promoter hypermethylation may have a role in de-repression of LINE-1 in human hypospermatogenesis
    Title: MAEL promoter hypermethylation is associated with de-repression of LINE-1 in human hypospermatogenesis.
  5. Report found that Mael is activated in proliferating cancer cells, where it serves to maintain genetic stability. Its depletion results in an increase in reactive oxygen species, followed by apoptosis or senescence.
    Title: Mael is essential for cancer cell survival and tumorigenesis through protection of genetic integrity.
  6. Data suggest that overexpression of MAEL, caused by gene amplification and/or decreased miR-186, has a critical oncogenic role in UCB pathogenesis by downregulation of MTSS1.
    Title: Overexpression of maelstrom promotes bladder urothelial carcinoma cell aggressiveness by epigenetically downregulating MTSS1 through DNMT3B.
  7. Study demonstrated that MAEL interacts with Snail and inhibit E-cadherin promoter activity. MAEL is an oncogene that plays an important role in the development and progression of colon cancer.
    Title: MAEL expression links epithelial-mesenchymal transition and stem cell properties in colorectal cancer.
  8. Immunofluorescence analysis showed that MAEL co-localizes with the stress granule marker PABPC1 in stress granules during oxidative stress. MAEL may be involved in miRNA-mediated gene silencing in SGs.
    Title: Proteomic analysis reveals that MAEL, a component of nuage, interacts with stress granule proteins in cancer cells.
  9. Maelstrom promotes hepatocellular carcinoma metastasis by inducing epithelial-mesenchymal transition by way of Akt/GSK-3beta/Snail signaling.
    Title: Maelstrom promotes hepatocellular carcinoma metastasis by inducing epithelial-mesenchymal transition by way of Akt/GSK-3β/Snail signaling.
  10. These results suggest that MAEL is a novel cancer/testis-associated gene and is regulated by DNA methylation.
    Title: Identification of a novel human cancer/testis gene MAEL that is regulated by DNA methylation.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ14904

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
 PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
DNA methylation involved in gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
  
cell differentiation IEA
Inferred from Electronic Annotation
more info
  
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
  
fertilization IEA
Inferred from Electronic Annotation
more info
  
gene silencing by RNA ISS
Inferred from Sequence or Structural Similarity
more info
  
intrinsic apoptotic signaling pathway in response to DNA damage IEA
Inferred from Electronic Annotation
more info
  
male meiotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
piRNA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
piRNA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of gene silencing by miRNA IEA
Inferred from Electronic Annotation
more info
  
regulation of organ growth IEA
Inferred from Electronic Annotation
more info
  
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
synapsis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
P granule IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
P granule ISS
Inferred from Sequence or Structural Similarity
more info
  
XY body IEA
Inferred from Electronic Annotation
more info
  
autosome IEA
Inferred from Electronic Annotation
more info
  
chromatin IEA
Inferred from Electronic Annotation
more info
  
chromatoid body IEA
Inferred from Electronic Annotation
more info
  
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
piP-body ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
protein maelstrom homolog
Names
cancer/testis antigen 128
maelstrom homolog
spermatogenesis associated 35
testicular tissue protein Li 116

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.

mRNA and Protein(s)

  1. NM_001286377.2 → NP_001273306.1  protein maelstrom homolog isoform 2

    See identical proteins and their annotated locations for NP_001273306.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    GU383113
    Consensus CDS
    CCDS65712.1
    UniProtKB/Swiss-Prot
    Q96JY0
    Related
    ENSP00000356844.2, ENST00000367870.6
    Conserved Domains (2) summary
    pfam13017
    Location:99 → 295
    Maelstrom; piRNA pathway germ-plasm component
    cl00082
    Location:5 → 44
    HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

  2. NM_001286378.2 → NP_001273307.1  protein maelstrom homolog isoform 3

    See identical proteins and their annotated locations for NP_001273307.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region compared to variant 1. These differences cause translation initiation at a downstream start codon compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    DQ076156, GU383114
    Consensus CDS
    CCDS72975.1
    UniProtKB/Swiss-Prot
    Q96JY0
    UniProtKB/TrEMBL
    E9JVC4
    Related
    ENSP00000482771.1, ENST00000622874.4
    Conserved Domains (1) summary
    pfam13017
    Location:74 → 270
    Maelstrom; piRNA pathway germ-plasm component

  3. NM_032858.3 → NP_116247.1  protein maelstrom homolog isoform 1

    See identical proteins and their annotated locations for NP_116247.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    DQ076156
    Consensus CDS
    CCDS1257.1
    UniProtKB/Swiss-Prot
    Q96JY0
    UniProtKB/TrEMBL
    A0A140VJP0
    Related
    ENSP00000356846.4, ENST00000367872.9
    Conserved Domains (2) summary
    pfam09011
    Location:5 → 72
    HMG_box_2; HMG-box domain
    pfam13017
    Location:130 → 326
    Maelstrom; piRNA pathway germ-plasm component

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    166921121..167022214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002602.1 → XP_016858091.1  protein maelstrom homolog isoform X3

    UniProtKB/TrEMBL
    E9JVC4
    Conserved Domains (1) summary
    pfam13017
    Location:74 → 270
    Maelstrom; piRNA pathway germ-plasm component

  2. XM_011510068.1 → XP_011508370.1  protein maelstrom homolog isoform X4

    See identical proteins and their annotated locations for XP_011508370.1

    Conserved Domains (1) summary
    pfam13017
    Location:71 → 267
    Maelstrom; piRNA pathway germ-plasm component

  3. XM_017002603.1 → XP_016858092.1  protein maelstrom homolog isoform X3

    UniProtKB/TrEMBL
    E9JVC4
    Conserved Domains (1) summary
    pfam13017
    Location:74 → 270
    Maelstrom; piRNA pathway germ-plasm component

  4. XM_006711583.1 → XP_006711646.1  protein maelstrom homolog isoform X2

    Conserved Domains (2) summary
    pfam13017
    Location:115 → 311
    Maelstrom; piRNA pathway germ-plasm component
    cl00082
    Location:2 → 57
    HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

  5. XM_011510067.1 → XP_011508369.1  protein maelstrom homolog isoform X1

    Conserved Domains (2) summary
    pfam09011
    Location:5 → 72
    HMG_box_2; HMG-box domain
    pfam13017
    Location:127 → 323
    Maelstrom; piRNA pathway germ-plasm component
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JY0.1 GenPept UniProtKB/Swiss-Prot:Q96JY0

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