Aliases for ABITRAM Gene

Aliases for ABITRAM Gene

  • Actin Binding Transcription Modulator 2 3 5
  • Family With Sequence Similarity 206 Member A 2 3
  • Protein Abitram 3 4
  • Protein Simiate 3 4
  • FAM206A 3 4
  • C9orf6 3 4
  • Family With Sequence Similarity 206, Member A 2
  • Actin-Binding Transcription Modulator 4
  • Chromosome 9 Open Reading Frame 6 2
  • Protein FAM206A 3
  • Simiate 3
  • CG-8 3

External Ids for ABITRAM Gene

Previous HGNC Symbols for ABITRAM Gene

  • C9orf6
  • FAM206A

Summaries for ABITRAM Gene

GeneCards Summary for ABITRAM Gene

ABITRAM (Actin Binding Transcription Modulator) is a Protein Coding gene. Diseases associated with ABITRAM include Peroxisome Biogenesis Disorder 1B.

UniProtKB/Swiss-Prot Summary for ABITRAM Gene

  • Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons.

Additional gene information for ABITRAM Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABITRAM Gene

Genomics for ABITRAM Gene

GeneHancer (GH) Regulatory Elements for ABITRAM Gene

Promoters and enhancers for ABITRAM Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABITRAM on UCSC Golden Path with GeneCards custom track

Genomic Locations for ABITRAM Gene

Genomic Locations for ABITRAM Gene
chr9:108,934,393-108,951,041
(GRCh38/hg38)
Size:
16,649 bases
Orientation:
Plus strand
chr9:111,696,461-111,713,024
(GRCh37/hg19)
Size:
16,564 bases
Orientation:
Plus strand

Genomic View for ABITRAM Gene

Genes around ABITRAM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ABITRAM Gene

Proteins for ABITRAM Gene

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

    Protein Symbol:
    Q9NX38-ABITM_HUMAN
    Recommended name:
    Protein Abitram
    Protein Accession:
    Q9NX38
    Secondary Accessions:
    • Q5JTR0
    • Q5JTR1

    Protein attributes for ABITRAM Gene

    Size:
    181 amino acids
    Molecular mass:
    20378 Da
    Quaternary structure:
    • Interacts with F-actin (By similarity). Interacts with G-actin (By similarity).
    Miscellaneous:
    • Depletion of ABITRAM by siRNA or neutralizing antibodies results in cell death within a few hours.

neXtProt entry for ABITRAM Gene

Post-translational modifications for ABITRAM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABITRAM Gene

No data available for DME Specific Peptides for ABITRAM Gene

Domains & Families for ABITRAM Gene

Gene Families for ABITRAM Gene

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

Protein Domains for ABITRAM Gene

Suggested Antigen Peptide Sequences for ABITRAM Gene

GenScript: Design optimal peptide antigens:
  • UPF0436 protein C9orf6 (CI006_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX38

UniProtKB/Swiss-Prot:

ABITM_HUMAN :
  • Belongs to the ABITRAM family.
Family:
  • Belongs to the ABITRAM family.
genes like me logo Genes that share domains with ABITRAM: view

Function for ABITRAM Gene

Molecular function for ABITRAM Gene

UniProtKB/Swiss-Prot Function:
Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons.

Phenotypes From GWAS Catalog for ABITRAM Gene

Gene Ontology (GO) - Molecular Function for ABITRAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IEA,ISS --
GO:0005515 protein binding IPI 15607035
GO:0051015 actin filament binding IEA,ISS --
genes like me logo Genes that share ontologies with ABITRAM: view

Phenotypes for ABITRAM Gene

MGI mutant phenotypes for ABITRAM:
inferred from 1 alleles
GenomeRNAi human phenotypes for ABITRAM:
genes like me logo Genes that share phenotypes with ABITRAM: view

Animal Models for ABITRAM Gene

MGI Knock Outs for ABITRAM:
  • Abitram Abitram<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABITRAM

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

Localization for ABITRAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABITRAM Gene

Nucleus speckle. Cell projection, lamellipodium. Nucleus. Cell projection, growth cone. Cell projection, dendrite. Note=Localizes to somata and dendrites in cortical neurons (By similarity). Colocalizes with G- and F-actin in lamellipodia (By similarity). Colocalizes in the nucleus with PTK2 (By similarity). {ECO:0000250 UniProtKB:Q80ZQ9}.

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 ABITRAM gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 2
peroxisome 2
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABITRAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016607 nuclear speck IEA --
GO:0030027 lamellipodium ISS --
GO:0030425 dendrite IEA --
GO:0030426 growth cone ISS --
genes like me logo Genes that share ontologies with ABITRAM: view

Pathways & Interactions for ABITRAM Gene

PathCards logo

SuperPathways for ABITRAM Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABITRAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030833 regulation of actin filament polymerization ISS,IEA --
GO:0048813 dendrite morphogenesis ISS,IEA --
GO:0051489 regulation of filopodium assembly ISS,IEA --
genes like me logo Genes that share ontologies with ABITRAM: view

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

Drugs & Compounds for ABITRAM Gene

No Compound Related Data Available

Transcripts for ABITRAM Gene

mRNA/cDNA for ABITRAM Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABITRAM

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

No ASD Table

Relevant External Links for ABITRAM Gene

GeneLoc Exon Structure for
ABITRAM
ECgene alternative splicing isoforms for
ABITRAM

Expression for ABITRAM Gene

NURSA nuclear receptor signaling pathways regulating expression of ABITRAM Gene:

ABITRAM

SOURCE GeneReport for Unigene cluster for ABITRAM Gene:

Hs.29276
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABITRAM Gene

Orthologs for ABITRAM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABITRAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM206A 33 32
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM206A 33 32
  • 92.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM206A 33 32
  • 90.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam206a 32
  • 88.26 (n)
mouse
(Mus musculus)
Mammalia BC026590 33 32
  • 86.59 (n)
OneToOne
Abitram 17
oppossum
(Monodelphis domestica)
Mammalia FAM206A 33
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM206A 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM206A 33 32
  • 74.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM206A 33
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam206a 32
  • 71.63 (n)
Str.1518 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.3630 32
zebrafish
(Danio rerio)
Actinopterygii fam206a 33 32
  • 68.65 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6676 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002455 32
  • 48.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9288 33 32
  • 48.53 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F54F2.7 33
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G75980 32
  • 46.84 (n)
rice
(Oryza sativa)
Liliopsida Os02g0120400 32
  • 47.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 44 (a)
OneToOne
Species where no ortholog for ABITRAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABITRAM Gene

ENSEMBL:
Gene Tree for ABITRAM (if available)
TreeFam:
Gene Tree for ABITRAM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABITRAM: view image

Paralogs for ABITRAM Gene

Pseudogenes.org Pseudogenes for ABITRAM Gene

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

No data available for Paralogs for ABITRAM Gene

Variants for ABITRAM Gene

Sequence variations from dbSNP and Humsavar for ABITRAM Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs117100816 uncertain-significance, Familial dysautonomia 108,933,963(+) T/A/C/G upstream_transcript_variant
rs138630440 uncertain-significance, Familial dysautonomia 108,933,985(+) G/A/C upstream_transcript_variant
rs2275639 benign, likely-benign, not specified, Familial dysautonomia 108,933,879(+) C/G upstream_transcript_variant
rs2275640 likely-benign, Familial dysautonomia 108,933,934(+) A/C/G upstream_transcript_variant
rs2275641 likely-benign, Familial dysautonomia 108,934,109(+) G/A/C upstream_transcript_variant

Variation tolerance for ABITRAM Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.93; 35.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABITRAM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABITRAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ABITRAM Gene

Disorders for ABITRAM Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABITRAM Gene - From: DISEASES

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 1b
  • pbd1b
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ABITRAM: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ABITRAM Gene

Publications for ABITRAM Gene

  1. Identification and characterisation of Simiate, a novel protein linked to the fragile X syndrome. (PMID: 24349419) Derlig K … Dahlhaus R (PloS one 2013) 2 3 4 56
  2. Simiate is an Actin binding protein involved in filopodia dynamics and arborization of neurons. (PMID: 24782708) Derlig K … Dahlhaus R (Frontiers in cellular neuroscience 2014) 2 3 56
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 56
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 56

Products for ABITRAM Gene

Sources for ABITRAM Gene