Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	55219
Gene name	Macoilin 1
Gene symbol	MACO1
Synonyms (NCBI Gene)	MACOILINTMEM57
Chromosome	1
Chromosome location	1p36.11\|1p36.11

25 Show/Hide all (25)

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

MIM	HGNC	e!Ensembl
610301	25572	ENSG00000204178

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

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (7)
ANTI-GAD65 AUTOIMMUNE NEUROLOGICAL SYNDROMES	—	GWAS catalog	35348614	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	19060911	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	19060911	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	32887889	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Coronary Disease	Coronary artery disease	Pubtator	20084173	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	19060911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	CTD_human_DG	19060911		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
HELQ	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
CCDC192	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
RERGL	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
STK31	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]
ADH7	3	["Head and neck neoplasms","Oropharyngeal cancer","Upper aerodigestive tract neoplasm"]	[]	3	["GWAS catalog (Head and neck neoplasms)","GWAS catalog (Oropharyngeal cancer)","GWAS catalog (Upper aerodigestive tract neoplasm)"]

MACO1 (macoilin 1)

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