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MAATS1 Gene(Protein Coding)

MYCBP Associated And Testis Expressed 1

GCID:
GC03P119703
GIFtS:
40
Genes Participants
UDN Logo

Aliases for MAATS1 Gene

Aliases for MAATS1 Gene

  • MYCBP Associated And Testis Expressed 1 2 3 5
  • AMY-1-Associating Protein Expressed In Testis 1 2 3 4
  • MYCBP/AMY-1-Associated Testis-Expressed Protein 1 3 4
  • MYCBP/AMY-1-Associated, Testis Expressed 1 2 3
  • MYCBP-Associated, Testis Expressed 1 2 3
  • Spermatogenesis Associated 26 2 3
  • MYCBP-Binding Protein 2 3
  • Protein MAATS1 3 4
  • C3orf15 3 4
  • CFAP91 3 4
  • AAT-1 3 4
  • AAT1 3 4
  • Cilia- And Flagella-Associated Protein 91 3
  • Chromosome 3 Open Reading Frame 15 2
  • AAT1-Alpha 3
  • AAT1alpha 3
  • CaM-IP2 3
  • SPATA26 3

External Ids for MAATS1 Gene

Previous HGNC Symbols for MAATS1 Gene

  • C3orf15

Previous GeneCards Identifiers for MAATS1 Gene

  • GC03P119422

Summaries for MAATS1 Gene

GeneCards Summary for MAATS1 Gene

MAATS1 (MYCBP Associated And Testis Expressed 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include adenosylmethionine decarboxylase activity.

UniProtKB/Swiss-Prot for MAATS1 Gene

  • May regulate cilium motility through its role in the assembly of the axonemal radial spokes.

  • Isoform 4: May play a role in spermatogenesis.

Gene Wiki entry for MAATS1 Gene

Additional gene information for MAATS1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAATS1 Gene

Genomics for MAATS1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MAATS1 Gene

Promoters and enhancers for MAATS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03I119702 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 583.9 0.0 -3 1 HDGF MXI1 NFIB NEUROD1 MAX SIN3A BMI1 ZBTB7B RAD21 YY1 MAATS1 LOC105374064 LRRC58
GH03I119675 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 20.2 -26.1 -26118 2.6 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B COX17 MAATS1 POPDC2 CD80 LOC105374063
GH03I119699 Enhancer 1 Ensembl ENCODE 33.9 -2.3 -2263 2 HDGF ELF3 PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ATF7 ETV6 MAATS1 ENSG00000239994 LRRC58 PLA1A LOC105374064 PIR40954
GH03I119715 Enhancer 1 FANTOM5 ENCODE 33.2 +14.0 13952 2.5 FOXA2 RAD21 RARA YY1 THAP11 MIXL1 RXRA REST NR2F2 NFIL3 MAATS1 ENSG00000239994 RPL10P7 PLA1A LRRC58 NR1I2
GH03I119626 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -73.6 -73629 5.2 PKNOX1 BATF ZBTB40 ZNF766 SCRT2 BCLAF1 IKZF2 RUNX3 SMARCA5 CEBPB ADPRH MAATS1 RPL10P7 COX17 CD80 POPDC2 ARHGAP31 PLA1A GPR156 GSK3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAATS1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MAATS1 Gene

Genomic Locations for MAATS1 Gene
chr3:119,703,022-119,767,102
(GRCh38/hg38)
Size:
64,081 bases
Orientation:
Plus strand
chr3:119,421,869-119,485,949
(GRCh37/hg19)

Genomic View for MAATS1 Gene

Genes around MAATS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAATS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAATS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MAATS1 Gene

Proteins for MAATS1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MAATS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4T9-CFA91_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 91
    Protein Accession:
    Q7Z4T9
    Secondary Accessions:
    • A0AVK2
    • A8K1J9
    • B3KP23
    • B4DG52
    • B4DZ14
    • C9JUG4
    • Q68DX2
    • Q8TD41
    • Q96A45
    • Q96JE8

    Protein attributes for MAATS1 Gene

    Size:
    603 amino acids
    Molecular mass:
    70999 Da
    Quaternary structure:
    • Interacts with MYCBP and AKAP1. Isoform 4 is part of a complex containing MYCBP, AKAP1 and PRKAR2B. Isoform 3 does not interact with MYCBP.

    Alternative splice isoforms for MAATS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAATS1 Gene

Protein Expression for MAATS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MAATS1 Gene

Other Protein References for MAATS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAATS1 Gene

Domains & Families for MAATS1 Gene

Gene Families for MAATS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAATS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAATS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MAATS1: view

No data available for UniProtKB/Swiss-Prot for MAATS1 Gene

Function for MAATS1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MAATS1 Gene

UniProtKB/Swiss-Prot Function:
May regulate cilium motility through its role in the assembly of the axonemal radial spokes.
UniProtKB/Swiss-Prot Function:
Isoform 4: May play a role in spermatogenesis.

Gene Ontology (GO) - Molecular Function for MAATS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12223483
genes like me logo Genes that share ontologies with MAATS1: view
genes like me logo Genes that share phenotypes with MAATS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAATS1 Gene

Localization for MAATS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAATS1 Gene

Cytoplasm. Mitochondrion. Cytoplasm, cytoskeleton, cilium axoneme.
Isoform 4: Mitochondrion. Note=Localized in the neck of the sperm. {ECO:0000269 PubMed:12223483}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAATS1 gene
Compartment Confidence
cytoskeleton 4
mitochondrion 4
nucleus 3
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MAATS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001536 colocalizes_with radial spoke stalk ISS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with MAATS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAATS1 Gene

Pathways & Interactions for MAATS1 Gene

SuperPathways for MAATS1 Gene

PathCards logo More details on SuperPathways for MAATS1
No Data Available

Gene Ontology (GO) - Biological Process for MAATS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement ISS --
genes like me logo Genes that share ontologies with MAATS1: view

No data available for Pathways by source and SIGNOR curated interactions for MAATS1 Gene

Drugs & Compounds for MAATS1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MAATS1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MAATS1 Gene

(5) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(54) Selected AceView cDNA sequences:
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MAATS1 Gene

MYCBP-associated, testis expressed 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAATS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ·
SP1: - - - - - - -
SP2: - - - - - - - - - - - -
SP3: - - -
SP4: -
SP5: - -
SP6: - -
SP7:
SP8:

ExUns: 19c ^ 20 ^ 21a · 21b · 21c · 21d
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6: -
SP7: -
SP8:

Relevant External Links for MAATS1 Gene

GeneLoc Exon Structure for
MAATS1
ECgene alternative splicing isoforms for
MAATS1

Expression for MAATS1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAATS1 Gene

mRNA expression in normal human tissues for MAATS1 Gene
mRNA expression by BioGPS for MAATS1 GenemRNA expression by GTEx for MAATS1 Gene

mRNA differential expression in normal tissues according to GTEx for MAATS1 Gene

This gene is overexpressed in Pituitary (x8.1).

Protein differential expression in normal tissues from HIPED for MAATS1 Gene

This gene is overexpressed in Fetal Liver (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MAATS1 Gene



Protein tissue co-expression partners for MAATS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAATS1 Gene:

MAATS1

SOURCE GeneReport for Unigene cluster for MAATS1 Gene:

Hs.341906

mRNA Expression by UniProt/SwissProt for MAATS1 Gene:

Q7Z4T9-CFA91_HUMAN
Tissue specificity: Isoform 1 is strongly expressed in the liver. Isoform 4 is widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermatid and mature sperm. Isoform 4 is also expressed in Leydig cells. Isoform 3 is expressed in the testis.

Evidence on tissue expression from TISSUES for MAATS1 Gene

  • Lung(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MAATS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAATS1 Gene

Orthologs for MAATS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAATS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MAATS1 33 34
  • 99.35 (n)
dog
(Canis familiaris)
 Mammalia NR1I2 33
  • 87.53 (n)
MAATS1 34
  • 83 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia MAATS1 33 34
  • 86.3 (n)
mouse
(Mus musculus)
 Mammalia Maats1 33 16 34
  • 80.53 (n)
rat
(Rattus norvegicus)
 Mammalia Maats1 33
  • 78.57 (n)
oppossum
(Monodelphis domestica)
 Mammalia MAATS1 34
  • 68 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MAATS1 34
  • 65 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C1H3ORF15 33
  • 69.03 (n)
MAATS1 34
  • 59 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MAATS1 34
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia maats1 33
  • 64.6 (n)
zebrafish
(Danio rerio)
 Actinopterygii si:dkey-265i7.2 33
  • 60 (n)
MAATS1 34
  • 51 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG15145 34
  • 15 (a)
 OneToMany
CG15144 34
  • 14 (a)
 OneToMany
CG15143 34
  • 11 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 56 (a)
 OneToOne
Species where no ortholog for MAATS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAATS1 Gene

ENSEMBL:
Gene Tree for MAATS1 (if available)
TreeFam:
Gene Tree for MAATS1 (if available)

Paralogs for MAATS1 Gene

(1) SIMAP similar genes for MAATS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MAATS1: view

No data available for Paralogs for MAATS1 Gene

Variants for MAATS1 Gene

Sequence variations from dbSNP and Humsavar for MAATS1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000029982 -- 119,738,964(+) T/C intron_variant
rs1000047424 -- 119,745,620(+) A/G intron_variant
rs1000052118 -- 119,761,511(+) G/C intron_variant
rs1000058370 -- 119,736,481(+) T/C intron_variant
rs1000105916 -- 119,719,942(+) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAATS1 Gene

Variant ID Type Subtype PubMed ID
esv3426402 CNV duplication 20981092
esv3568978 CNV loss 25503493
nsv460834 CNV gain 19166990
nsv591390 CNV gain 21841781
nsv591391 CNV loss 21841781
nsv819215 CNV loss 19587683
nsv819329 CNV loss 19587683

Variation tolerance for MAATS1 Gene

Residual Variation Intolerance Score: 92.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAATS1 Gene

Human Gene Mutation Database (HGMD)
MAATS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAATS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAATS1 Gene

Disorders for MAATS1 Gene

Additional Disease Information for MAATS1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAATS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAATS1 Gene

Publications for MAATS1 Gene

  1. AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex with AMY-1, A-kinase anchor protein 84, and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase. (PMID: 12223483) Yukitake H … Ariga H (The Journal of biological chemistry 2002) 2 3 4 22 58
  2. Structure and characterization of AAT-1 isoforms. (PMID: 15863901) Matsuda E … Ariga H (Biological & pharmaceutical bulletin 2005) 3 4 22 58
  3. A conserved CaM- and radial spoke associated complex mediates regulation of flagellar dynein activity. (PMID: 17967944) Dymek EE … Smith EF (The Journal of cell biology 2007) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Are polymorphic markers within the alpha-1-antitrypsin gene associated with risk of human immunodeficiency virus disease? (PMID: 14551891) Hayes VM … Gardiner-Garden M (The Journal of infectious diseases 2003) 2 3 58

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