MTCL1 (microtubule crosslinking factor 1)

Gene

• Entrez ID: 23255
• Gene name: Microtubule crosslinking factor 1
• Gene symbol: MTCL1
• Synonyms (NCBI Gene): CCDC165, KIAA0802, SOGA2
• Chromosome: 18
• Chromosome location: 18p11.22

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT439564	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439565	hsa-miR-543	HITS-CLIP	24374217
MIRT439564	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439565	hsa-miR-543	HITS-CLIP	24374217
MIRT740601	hsa-miR-6499-5p	HITS-CLIP	19536157
MIRT740602	hsa-miR-5695	HITS-CLIP	19536157
MIRT740603	hsa-miR-4268	HITS-CLIP	19536157
MIRT740604	hsa-miR-4448	HITS-CLIP	19536157
MIRT740605	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT740606	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT740607	hsa-miR-6788-3p	HITS-CLIP	19536157
MIRT740608	hsa-miR-4750-5p	HITS-CLIP	19536157
MIRT740609	hsa-miR-6772-3p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	IDA	33587225
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	23902687, 33587225
GO:0000922	Component	Spindle pole	IEA
GO:0001578	Process	Microtubule bundle formation	IBA
GO:0001578	Process	Microtubule bundle formation	ISS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	23902687, 33587225
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IDA	23902687
GO:0005856	Component	Cytoskeleton	IEA
GO:0005876	Component	Spindle microtubule	IDA	33587225
GO:0005886	Component	Plasma membrane	IEA
GO:0007059	Process	Chromosome segregation	IMP	33587225
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	23902687
GO:0010506	Process	Regulation of autophagy	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016327	Component	Apicolateral plasma membrane	IBA
GO:0016327	Component	Apicolateral plasma membrane	ISS
GO:0016328	Component	Lateral plasma membrane	IBA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	23902687, 33587225
GO:0030496	Component	Midbody	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	ISS
GO:0051301	Process	Cell division	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:0097427	Component	Microtubule bundle	IBA
GO:0097427	Component	Microtubule bundle	ISS

Other IDs

• MIM: 615766
• HGNC: 29121
• e!Ensembl: ENSG00000168502

Protein

• UniProt ID: Q9Y4B5
• Protein name: Microtubule cross-linking factor 1 (Coiled-coil domain-containing protein 165) (PAR-1-interacting protein) (SOGA family member 2)
• Protein function: Microtubule-associated factor involved in the late phase of epithelial polarization and microtubule dynamics regulation (PubMed:23902687). Plays a role in the development and maintenance of non-centrosomal microtubule bundles at the lateral memb
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11365	SOGA	501 → 595	Protein SOGA	Coiled-coil
  PF11365	SOGA	630 → 722	Protein SOGA	Coiled-coil
  PF14818	DUF4482	1228 → 1351	Domain of unknown function (DUF4482)	Family

• Sequence:

  METLNGPAGGGAPDAKLQPPGQHHRHHHLHPVAERRRLHRAPSPARPFLKDLHARPAAPG
  PAVPSSGRAPAPAAPRSPNLAGKAPPSPGSLAAPGRLSRRSGGVPGAKDKPPPGAGARAA
  GGAKAALGSRRAARVAPAEPLSRAGKPPGAEPPSAAAKGRKAKRGSRAPPARTVGPPTPA
  ARIPAVTLAVTSVAGSPARCSRISHTDSSSDLSDCPSEPLSDEQRLLPAASSDAESGTGS
  SDREPPRGAPTPSPAARGAPPGSPEPPALLAAPLAAGACPGGRSIPSGVSGGFAGPGVAE
  DVRGRSPPERPVPGTPKEPSLGEQSRLVPAAEEEELLREMEELRSENDYLKDELDELRAE
  MEEMRDSYLEEDVYQLQELRRELDRANKNCRILQYRLRKAEQKSLKVAETGQVDGELIRS
  LEQDLKVAKDVSVRLHHELKTVEEKRAKAEDENETLRQQMIEVEISKQALQNELERLKES
  SLKRRSTREMYKEKKTFNQDDSADLRCQLQFAKEEAFLMRKKMAKLGREKDELEQELQKY
  KSLYGDVDSPLPTGEAGGPPSTREAELKLRLKLVEEEANILGRKIVELEVENRGLKAEME
  DMRGQQEREGPGRDHAPSIPTSPFGDSLESSTELRRHLQFVEEEAELLRRSISEIEDHNR
  QLTHELSKFKFEPPREPGWLGEGASPGAGGGAPLQEELKSARLQISELSGKVLKLQHENH
  ALLSNIQRCDLAAHLGLRAPSPRDSDAESDAGKKESDGEESRLPQPKREGPVGGESDSEE
  MFEKTSGFGSGKPSEASEPCPTELLKAREDSEYLVTLKHEAQRLERTVERLITDTDSFLH
  DAGLRGGAPLPGPGLQGEEEQGEGDQQEPQLLGTINAKMKAFKKELQAFLEQVNRIGDGL
  SPLPHLTESSSFLSTVTSVSRDSPIGNLGKELGPDLQSRLKEQLEWQLGPARGDERESLR
  LRAARELHRRADGDTGSHGLGGQTCFSLEMEEEHLYALRWKELEMHSLALQNTLHERTWS
  DEKNLMQQELRSLKQNIFLFYVKLRWLLKHWRQGKQMEEEGEEFTEGEHPETLSRLGELG
  VQGGHQADGPDHDSDRGCGFPVGEHSPHSRVQIGDHSLRLQTADRGQPHKQVVENQQLFS
  AFKALLEDFRAELREDERARLRLQQQYASDKAAWDVEWAVLKCRLEQLEEKTENKLGELG
  SSAESKGALKKEREVHQKLLADSHSLVMDLRWQIHHSEKNWNREKVELLDRLDRDRQEWE
  RQKKEFLWRIEQLQKENSPRRGGSFLCDQKDGNVRPFPHQGSLRMPRPVAMWPCADADSI
  PFEDRPLSKLKESDRCSASENLYLDALSLDDEPEEPPAHRPEREFRNRLPEEEENHKGNL
  QRAVSVSSMSEFQRLMDISPFLPEKGLPSTSSKEDVTPPLSPDDLKYIEEFNKSWDYTPN
  RGHNGGGPDLWADRTEVGRAGHEDSTEPFPDSSWYLTTSVTMTTDTMTSPEHCQKQPLRS
  HVLTEQSGLRVLHSPPAVRRVDSITAAGGEGPFPTSRARGSPGDTKGGPPEPMLSRWPCT
  SPRHSRDYVEGARRPLDSPLCTSLGFASPLHSLEMSKNLSDDMKEVAFSVRNAICSGPGE
  LQVKDMACQTNGSRTMGTQTVQTISVGLQTEALRGSGVTSSPHKCLTPKAGGGATPVSSP
  SRSLRSRQVAPAIEKVQAKFERTCCSPKYGSPKLQRKPLPKADQPNNRTSPGMAQKGYSE
  SAWARSTTTRESPVHTTINDGLSSLFNIIDHSPVVQDPFQKGLRAGSRSRSAEPRPELGP
  GQETGTNSRGRSPSPIGVGSEMCREEGGEGTPVKQDLSAPPGYTLTENVARILNKKLLEH
  ALKEERRQAAHGPPGLHSDSHSLGDTAEPGPMENQTVLLTAPWGL

• Sequence length: 1905

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
Cerebellar ataxia	Pathogenic	rs2510211807	RCV003140404	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant cerebellar ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIV-1 INFECTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Breast Neoplasms	Stimulate	25824743	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	31173346	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	28526295	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Associate	37891214	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	28166215	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Associate	28526295	★☆☆☆☆ Found in Text Mining only
Psoriasis	Associate	39344312	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Associate	28166215	★☆☆☆☆ Found in Text Mining only