MACO1 (macoilin 1)

Gene

• Entrez ID: 55219
• Gene name: Macoilin 1
• Gene symbol: MACO1
• Synonyms (NCBI Gene): MACOILIN, TMEM57
• Chromosome: 1
• Chromosome location: 1p36.11|1p36.11

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	12459264
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006935	Process	Chemotaxis	IBA
GO:0007420	Process	Brain development	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0023041	Process	Neuronal signal transduction	IBA
GO:0023041	Process	Neuronal signal transduction	IEA
GO:0023041	Process	Neuronal signal transduction	IMP	21589894
GO:0030424	Component	Axon	IEA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IBA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IDA	21589894
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0031965	Component	Nuclear membrane	IBA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031965	Component	Nuclear membrane	ISS	15255972
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0044306	Component	Neuron projection terminus	ISS	15255972
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS	15255972

Other IDs

• MIM: 610301
• HGNC: 25572
• e!Ensembl: ENSG00000204178

Protein

• UniProt ID: Q8N5G2
• Protein name: Macoilin (Macoilin-1) (Transmembrane protein 57)
• Protein function: Plays a role in the regulation of neuronal activity.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09726	Macoilin	2 → 662	Macoilin family	Family

• Sequence:

  MKRRNADCSKLRRPLKRNRITEGIYGSTFLYLKFLVVWALVLLADFVLEFRFEYLWPFWL
  FIRSVYDSFRYQGLAFSVFFVCVAFTSNIICLLFIPIQWLFFAASTYVWVQYVWHTERGV
  CLPTVSLWILFVYIEAAIRFKDLKNFHVDLCRPFAAHCIGYPVVTLGFGFKSYVSYKMRL
  RKQKEVQKENEFYMQLLQQALPPEQQMLQKQEKEAEEAAKGLPDMDSSILIHHNGGIPAN
  KKLSTTLPEIEYREKGKEKDKDAKKHNLGINNNNILQPVDSKIQEIEYMENHINSKRLNN
  DLVGSTENLLKEDSCTASSKNYKNASGVVNSSPRSHSATNGSIPSSSSKNEKKQKCTSKS
  PSTHKDLMENCIPNNQLSKPDALVRLEQDIKKLKADLQASRQVEQELRSQISSLSSTERG
  IRSEMGQLRQENELLQNKLHNAVQMKQKDKQNISQLEKKLKAEQEARSFVEKQLMEEKKR
  KKLEEATAARAVAFAAASRGECTETLRNRIRELEAEGKKLTMDMKVKEDQIRELELKVQE
  LRKYKENEKDTEVLMSALSAMQDKTQHLENSLSAETRIKLDLFSALGDAKRQLEIAQGQI
  LQKDQEIKDLKQKIAEVMAVMPSITYSAATSPLSPVSPHYSSKFVETSPSGLDPNASVYQ
  PLKK

• Sequence length: 664

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
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Coronary Disease	Associate	20084173	★★☆☆☆ Found in Text Mining + Unknown/Other Associations