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

Summary

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; AllianceGenome:HGNC:25929
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
Summary: Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in gamete generation; negative regulation of macromolecule metabolic process; and piRNA metabolic process. Predicted to act upstream of or within several processes, including homologous chromosome pairing at meiosis; intrinsic apoptotic signaling pathway in response to DNA damage; and negative regulation of macromolecule metabolic process. Predicted to be located in piP-body. Predicted to be active in P granule and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 61.7) See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (166975582..167022214)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (166321415..166368050)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (166944819..166991451)

Chromosome 1 - NC_000001.11 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
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?

Identification of MAEL as a promoter for the drug resistance model of iPSCs derived from T-ALL.
Title: Identification of MAEL as a promoter for the drug resistance model of iPSCs derived from T-ALL.
Maelstrom promotes tumor metastasis through regulation of FGFR4 and epithelial-mesenchymal transition in epithelial ovarian cancer.
Title: Maelstrom promotes tumor metastasis through regulation of FGFR4 and epithelial-mesenchymal transition in epithelial ovarian cancer.
MAEL as a diagnostic marker for the early detection of esophageal squamous cell carcinoma.
Title: MAEL as a diagnostic marker for the early detection of esophageal squamous cell carcinoma.
MAEL Cancer-Testis Antigen as a Diagnostic Marker in Primary Stages of Gastric Cancer with Helicobacter pylori Infection.
Title: MAEL Cancer-Testis Antigen as a Diagnostic Marker in Primary Stages of Gastric Cancer with Helicobacter pylori Infection.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (16)

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

EBI GWAS Catalog

Description
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S2921 (e-PCR)
- UniSTS:152074

D10S16 (e-PCR)
- UniSTS:155756

G16295 (e-PCR)
- UniSTS:46013

Homology

Homologs of the MAEL gene: The MAEL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 337 organisms have orthologs with human gene MAEL
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA methylation involved in gamete generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA-mediated gene silencing	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in homologous chromosome pairing at meiosis	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in piRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of miRNA-mediated gene silencing	IEA Inferred from Electronic Annotation more info
involved_in regulation of organ growth	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in P granule	ISS Inferred from Sequence or Structural Similarity more info
located_in XY body	IEA Inferred from Electronic Annotation more info
located_in autosome	IEA Inferred from Electronic Annotation more info
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatoid body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in 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)

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 ...
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
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, Q9UIW6

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

166975582..167022214

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510068.2 → XP_011508370.1 protein maelstrom homolog isoform X3

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
XM_006711583.2 → 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 ...
XM_011510067.2 → 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