ABITRAM (actin binding transcription modulator)

Gene

• Entrez ID: 54942
• Gene name: Actin binding transcription modulator
• Gene symbol: ABITRAM
• Synonyms (NCBI Gene): C9orf6, CG-8, FAM206A, Simiate
• Chromosome: 9
• Chromosome location: 9q31.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003785	Function	Actin monomer binding	IBA
GO:0003785	Function	Actin monomer binding	IEA
GO:0003785	Function	Actin monomer binding	ISS
GO:0005515	Function	Protein binding	IPI	15607035, 25416956, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030833	Process	Regulation of actin filament polymerization	IBA
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	ISS
GO:0032433	Component	Filopodium tip	IBA
GO:0032433	Component	Filopodium tip	IEA
GO:0032433	Component	Filopodium tip	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048813	Process	Dendrite morphogenesis	IBA
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0048813	Process	Dendrite morphogenesis	ISS
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0051489	Process	Regulation of filopodium assembly	IBA
GO:0051489	Process	Regulation of filopodium assembly	IEA
GO:0051489	Process	Regulation of filopodium assembly	ISS

Other IDs

• MIM: 620392
• HGNC: 1364
• e!Ensembl: ENSG00000119328

Protein

• UniProt ID: Q9NX38
• Protein name: Protein Abitram (Actin-binding transcription modulator) (Protein Simiate)
• Protein function: Actin-binding protein that regulates actin polymerization, filopodia dynamics and increases the branching of proximal dendrites of developing neurons.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01597	GCV_H	106 → 173	Glycine cleavage H-protein	Domain

• Sequence:

  MATEPEAAEPVVPSLVDRYFTRWYKPDVKGKFCEDHCILQHSNRICVITLAESHPVLQSG
  KTIKSISYQISTNCSRLQNKVSGKFKRGAQFLTELAPLCKIYCSDGEEYTVSSCVRGRLM
  EVNENILHKPSILQEKPSTEGYIAVVLPKFEESKSITEGLLTQKQYEEVMVKRINATTAT
  S

• Sequence length: 181

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Malnutrition	Malnutrition	BEFREE	10222139		★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Peroxisome biogenesis disorder	Pubtator	16257970	Associate	★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	10222139		★☆☆☆☆ Found in Text Mining only