ACBD6 (acyl-CoA binding domain containing 6)

Gene

• Entrez ID: 84320
• Gene name: Acyl-CoA binding domain containing 6
• Gene symbol: ACBD6
• Synonyms (NCBI Gene): NEDPM
• Chromosome: 1
• Chromosome location: 1q25.2-q25.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041521	hsa-miR-193b-3p	CLASH	23622248
MIRT762174	hsa-miR-3146	CLIP-seq
MIRT762175	hsa-miR-3148	CLIP-seq
MIRT762176	hsa-miR-323b-3p	CLIP-seq
MIRT762177	hsa-miR-3674	CLIP-seq
MIRT762178	hsa-miR-4662a-5p	CLIP-seq
MIRT762179	hsa-miR-4703-3p	CLIP-seq
MIRT762180	hsa-miR-4795-3p	CLIP-seq
MIRT762181	hsa-miR-483-5p	CLIP-seq
MIRT762182	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000062	Function	Fatty-acyl-CoA binding	IBA
GO:0000062	Function	Fatty-acyl-CoA binding	IEA
GO:0000062	Function	Fatty-acyl-CoA binding	IMP	37951597
GO:0005515	Function	Protein binding	IPI	26621918, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	37951597
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	37951597
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0008289	Function	Lipid binding	IEA
GO:0008289	Function	Lipid binding	IMP	37951597

Other IDs

• MIM: 616352
• HGNC: 23339
• e!Ensembl: ENSG00000230124

Protein

• UniProt ID: Q9BR61
• Protein name: Acyl-CoA-binding domain-containing protein 6
• Protein function: Binds long-chain acyl-coenzyme A molecules with a strong preference for unsaturated C18:1-CoA, lower affinity for unsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. Plays a role in protein N-myristo
• PDB: 2COP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00887	ACBP	43 → 123	Acyl CoA binding protein	Domain
  PF12796	Ank_2	162 → 255	Ankyrin repeats (3 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta and spleen (at protein level). Detected in placenta, umbilical cord blood, CD34-positive hematopoietic progenitor cells and bone marrow. {ECO:0000269|PubMed:18268358}.
• Sequence:

  MASSFLPAGAITGDSGGELSSGDDSGEVEFPHSPEIEETSCLAELFEKAAAHLQGLIQVA
  SREQLLYLYARYKQVKVGNCNTPKPSFFDFEGKQKWEAWKALGDSSPSQAMQEYIAVVKK
  LDPGWNPQIPEKKGKEANTGFGGPVISSLYHEETIREEDKNIFDYCRENNIDHITKAIKS
  KNVDVNVKDEEGRALLHWACDRGHKELVTVLLQHRADINCQDNEGQTALHYASACEFLDI
  VELLLQSGADPTLRDQDGCLPEEVTGCKTVSLVLQRHTTGKA

• Sequence length: 282

Pathways

Reactome:

Mitochondrial Fatty Acid Beta-Oxidation

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual disability	Pathogenic	rs1412804743	RCV001810074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with progressive movement abnormalities	Pathogenic	rs1412804743, rs757566117, rs1647942239, rs2525656325, rs2528780273	RCV004577550 RCV004577649 RCV004577650 RCV004577651 RCV004577652	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACBD6-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY HORMONE DEFICIENCY, COMBINED, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY HORMONE DEFICIENCY, COMBINED, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	21937992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
PITUITARY HORMONE DEFICIENCY, COMBINED, 4	Pituitary Hormone Deficiency	CLINVAR_DG	23990694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	38181310	Associate	★☆☆☆☆ Found in Text Mining only