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Aliases for MTSS1L Gene

Aliases for MTSS1L Gene

  • MTSS1L, I-BAR Domain Containing 2 3 5
  • Actin-Bundling With BAIAP2 Homology Protein 1 3 4
  • ABBA-1 3 4
  • Actin-Bundling Protein With BAIAP2 Homology 2
  • Metastasis Suppressor 1 Like 2
  • Metastasis Suppressor 1-Like 3
  • MTSS1-Like Protein 3
  • ABBA1 3
  • ABBA 3

External Ids for MTSS1L Gene

Previous GeneCards Identifiers for MTSS1L Gene

  • GC16M069254
  • GC16M070695
  • GC16M056526

Summaries for MTSS1L Gene

GeneCards Summary for MTSS1L Gene

MTSS1L (MTSS1L, I-BAR Domain Containing) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include actin binding and cytoskeletal adaptor activity. An important paralog of this gene is MTSS1.

UniProtKB/Swiss-Prot for MTSS1L Gene

  • Involved in plasma membrane dynamics. Potentiated PDGF-mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation (PubMed:14752106). May function in actin bundling (PubMed:14752106).

Additional gene information for MTSS1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTSS1L Gene

Genomics for MTSS1L Gene

GeneHancer (GH) Regulatory Elements for MTSS1L Gene

Promoters and enhancers for MTSS1L 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
GH16I070680 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 558.7 -8.6 -8636 29.2 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 MTSS1L VAC14-AS1 CLEC18A NPIPB14P NOB1 VAC14 EXOSC6 NQO1 SMG1P7 MARVELD3
GH16I070723 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13 -39.8 -39840 4.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 ATF7 PIR60732 VAC14-AS1 MTSS1L NPIPB14P ENSG00000260156 VAC14
GH16I070986 Enhancer 1.2 Ensembl ENCODE 9.9 -301.4 -301396 1.1 PKNOX1 ZNF2 FOS KLF13 SP3 REST SMARCA4 GLIS1 NR2C1 NBN SF3B3 PDPR PDXDC2P-NPIPB14P DDX19A LOC400541 EXOSC6 HYDIN DDX19B NPIPB14P PDXDC2P
GH16I070744 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.5 -62.6 -62615 7.4 HDGF CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF766 CBX5 ENSG00000260156 VAC14 SNORD111 MTSS1L VAC14-AS1 FUK COG4 ZNF23
GH16I070734 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.7 -52.5 -52474 8 PKNOX1 ARID4B SIN3A IRF4 ZNF48 YY1 SLC30A9 ZNF143 ATF7 RUNX3 CLEC18A MTSS1L NONOP1 LOC100506083 EXOSC6 FUK ENSG00000260156 PIR60732 VAC14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MTSS1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MTSS1L gene promoter:

Genomic Locations for MTSS1L Gene

Genomic Locations for MTSS1L Gene
chr16:70,661,204-70,686,066
(GRCh38/hg38)
Size:
24,863 bases
Orientation:
Minus strand
chr16:70,695,107-70,719,969
(GRCh37/hg19)

Genomic View for MTSS1L Gene

Genes around MTSS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTSS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTSS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTSS1L Gene

Proteins for MTSS1L Gene

  • Protein details for MTSS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q765P7-MTSSL_HUMAN
    Recommended name:
    MTSS1-like protein
    Protein Accession:
    Q765P7
    Secondary Accessions:
    • A6NJI7
    • Q9BUA8

    Protein attributes for MTSS1L Gene

    Size:
    747 amino acids
    Molecular mass:
    79929 Da
    Quaternary structure:
    • Interacts (via IMD domain) with RAC1; this interaction may be important to potentiate PDGF-induced RAC1 activation.

    Alternative splice isoforms for MTSS1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTSS1L Gene

Post-translational modifications for MTSS1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MTSS1L Gene

Domains & Families for MTSS1L Gene

Gene Families for MTSS1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MTSS1L Gene

Suggested Antigen Peptide Sequences for MTSS1L Gene

Graphical View of Domain Structure for InterPro Entry

Q765P7

UniProtKB/Swiss-Prot:

MTSSL_HUMAN :
  • Belongs to the MTSS1 family.
Family:
  • Belongs to the MTSS1 family.
genes like me logo Genes that share domains with MTSS1L: view

Function for MTSS1L Gene

Molecular function for MTSS1L Gene

UniProtKB/Swiss-Prot Function:
Involved in plasma membrane dynamics. Potentiated PDGF-mediated formation of membrane ruffles and lamellipodia in fibroblasts, acting via RAC1 activation (PubMed:14752106). May function in actin bundling (PubMed:14752106).

Phenotypes From GWAS Catalog for MTSS1L Gene

Gene Ontology (GO) - Molecular Function for MTSS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0003785 actin monomer binding IEA --
GO:0005096 GTPase activator activity IDA 20875796
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA --
GO:0048365 Rac GTPase binding IEA,IPI 20875796
genes like me logo Genes that share ontologies with MTSS1L: view

Phenotypes for MTSS1L Gene

genes like me logo Genes that share phenotypes with MTSS1L: view

Animal Models for MTSS1L Gene

MGI Knock Outs for MTSS1L:

Animal Model Products

miRNA for MTSS1L Gene

miRTarBase miRNAs that target MTSS1L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTSS1L Gene

Localization for MTSS1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTSS1L Gene

Cytoplasm. Cell projection, ruffle. Note=Colocalizes with RAC1 within membrane ruffles. {ECO:0000269 PubMed:20875796}.

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 MTSS1L gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTSS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0030864 cortical actin cytoskeleton IEA --
GO:0032587 ruffle membrane IDA 20875796
genes like me logo Genes that share ontologies with MTSS1L: view

Pathways & Interactions for MTSS1L Gene

SuperPathways for MTSS1L Gene

No Data Available

Interacting Proteins for MTSS1L Gene

Gene Ontology (GO) - Biological Process for MTSS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007009 plasma membrane organization IEA --
GO:0036120 cellular response to platelet-derived growth factor stimulus IDA 20875796
GO:0061024 membrane organization IEA --
GO:0090630 activation of GTPase activity IDA 20875796
GO:0097178 ruffle assembly IEA --
genes like me logo Genes that share ontologies with MTSS1L: view

No data available for Pathways by source and SIGNOR curated interactions for MTSS1L Gene

Drugs & Compounds for MTSS1L Gene

No Compound Related Data Available

Transcripts for MTSS1L Gene

Unigene Clusters for MTSS1L Gene

Metastasis suppressor 1-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTSS1L Gene

No ASD Table

Relevant External Links for MTSS1L Gene

GeneLoc Exon Structure for
MTSS1L
ECgene alternative splicing isoforms for
MTSS1L

Expression for MTSS1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTSS1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTSS1L Gene

This gene is overexpressed in Brain (35.0) and Frontal cortex (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTSS1L Gene



Protein tissue co-expression partners for MTSS1L Gene

NURSA nuclear receptor signaling pathways regulating expression of MTSS1L Gene:

MTSS1L

SOURCE GeneReport for Unigene cluster for MTSS1L Gene:

Hs.432387

Evidence on tissue expression from TISSUES for MTSS1L Gene

  • Liver(4.4)
  • Skin(4.2)
  • Nervous system(3.5)
  • Eye(2.8)
  • Muscle(2.5)
  • Heart(2)
genes like me logo Genes that share expression patterns with MTSS1L: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTSS1L Gene

Orthologs for MTSS1L Gene

This gene was present in the common ancestor of animals.

Orthologs for MTSS1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTSS1L 33 34
  • 99.17 (n)
cow
(Bos Taurus)
Mammalia MTSS1L 33 34
  • 91.47 (n)
dog
(Canis familiaris)
Mammalia MTSS1L 33 34
  • 91.35 (n)
rat
(Rattus norvegicus)
Mammalia Mtss1l 33
  • 89.53 (n)
mouse
(Mus musculus)
Mammalia Mtss1l 33 16 34
  • 89.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTSS1L 34
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTSS1L 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTSS1L 33 34
  • 81.83 (n)
lizard
(Anolis carolinensis)
Reptilia MTSS1L 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtss1l 33
  • 70.83 (n)
Str.17843 33
zebrafish
(Danio rerio)
Actinopterygii MTSS1L (2 of 2) 34
  • 74 (a)
OneToMany
mtss1l 33 34
  • 68.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta mim 34
  • 5 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea M04F3.5 34
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
ManyToMany
-- 34
  • 21 (a)
ManyToMany
Species where no ortholog for MTSS1L 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)

Evolution for MTSS1L Gene

ENSEMBL:
Gene Tree for MTSS1L (if available)
TreeFam:
Gene Tree for MTSS1L (if available)

Paralogs for MTSS1L Gene

Paralogs for MTSS1L Gene

(1) SIMAP similar genes for MTSS1L Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MTSS1L: view

Variants for MTSS1L Gene

Sequence variations from dbSNP and Humsavar for MTSS1L Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs531163149 likely-pathogenic, Global developmental delay, Intellectual disability, Iron deposition in globus pallidus, Microcephaly, Muscular hypotonia 70,664,131(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000114854 -- 70,674,055(-) AAAAAAA/AAAAAA/AAAAAAAA downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000120297 -- 70,669,554(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000153430 -- 70,687,105(-) T/C upstream_transcript_variant
rs1000252289 -- 70,674,254(-) G/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MTSS1L Gene

Variant ID Type Subtype PubMed ID
dgv1366n106 CNV deletion 24896259
esv2666396 CNV deletion 23128226
esv3892881 CNV gain 25118596
nsv1059226 CNV gain 25217958
nsv1143827 CNV deletion 24896259
nsv1856 CNV insertion 18451855
nsv471094 CNV loss 18288195
nsv517391 CNV loss 19592680
nsv572945 CNV gain 21841781
nsv572946 CNV loss 21841781
nsv572947 CNV loss 21841781
nsv7285 OTHER inversion 18451855
nsv952049 CNV deletion 24416366

Variation tolerance for MTSS1L Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTSS1L Gene

Human Gene Mutation Database (HGMD)
MTSS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTSS1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTSS1L Gene

Disorders for MTSS1L Gene

Additional Disease Information for MTSS1L

No disorders were found for MTSS1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MTSS1L Gene

Publications for MTSS1L Gene

  1. Abba promotes PDGF-mediated membrane ruffling through activation of the small GTPase Rac1. (PMID: 20875796) Zheng D … Zhan X (Biochemical and biophysical research communications 2010) 3 4 58
  2. A novel actin bundling/filopodium-forming domain conserved in insulin receptor tyrosine kinase substrate p53 and missing in metastasis protein. (PMID: 14752106) Yamagishi A … Mochizuki N (The Journal of biological chemistry 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T … Xu J (Neurobiology of aging 2015) 3 58
  5. Substrate trapping proteomics reveals targets of the βTrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim TY … Major MB (Molecular and cellular biology 2015) 3 58

Products for MTSS1L Gene

Sources for MTSS1L Gene

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