Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	81027
Gene name	Tubulin beta 1 class VI
Gene symbol	TUBB1
Synonyms (NCBI Gene)	MACTHC1
Chromosome	20
Chromosome location	20q13.32
Summary	This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and mega

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41303899	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121918555	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs560702757	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs759117911	C>T	Pathogenic	Coding sequence variant, missense variant
rs767380935	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs770554119	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs773248042	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517996	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1601238563	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1601239459	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1601239696	C>-	Likely-pathogenic	Coding sequence variant, stop gained

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miRTarBase ID	miRNA	Experiments	Reference
MIRT047076	hsa-miR-183-5p	CLASH	23622248
MIRT1463018	hsa-miR-101	CLIP-seq
MIRT1463019	hsa-miR-1224-3p	CLIP-seq
MIRT1463020	hsa-miR-144	CLIP-seq
MIRT1463021	hsa-miR-1910	CLIP-seq
MIRT1463022	hsa-miR-196a	CLIP-seq
MIRT1463023	hsa-miR-196b	CLIP-seq
MIRT1463024	hsa-miR-224	CLIP-seq
MIRT1463025	hsa-miR-320a	CLIP-seq
MIRT1463026	hsa-miR-320b	CLIP-seq
MIRT1463027	hsa-miR-320c	CLIP-seq
MIRT1463028	hsa-miR-320d	CLIP-seq
MIRT1463029	hsa-miR-338-5p	CLIP-seq
MIRT1463030	hsa-miR-3927	CLIP-seq
MIRT1463031	hsa-miR-411	CLIP-seq
MIRT1463032	hsa-miR-4264	CLIP-seq
MIRT1463033	hsa-miR-4286	CLIP-seq
MIRT1463034	hsa-miR-4287	CLIP-seq
MIRT1463035	hsa-miR-4421	CLIP-seq
MIRT1463036	hsa-miR-4429	CLIP-seq
MIRT1463037	hsa-miR-4451	CLIP-seq
MIRT1463038	hsa-miR-4469	CLIP-seq
MIRT1463039	hsa-miR-4528	CLIP-seq
MIRT1463040	hsa-miR-455-3p	CLIP-seq
MIRT1463041	hsa-miR-4685-3p	CLIP-seq
MIRT1463042	hsa-miR-4720-3p	CLIP-seq
MIRT1463043	hsa-miR-4738-3p	CLIP-seq
MIRT1463044	hsa-miR-4761-5p	CLIP-seq
MIRT1463045	hsa-miR-4804-3p	CLIP-seq
MIRT1463046	hsa-miR-491-3p	CLIP-seq
MIRT1463047	hsa-miR-494	CLIP-seq
MIRT1463048	hsa-miR-539	CLIP-seq
MIRT1463049	hsa-miR-545	CLIP-seq
MIRT1463050	hsa-miR-548g	CLIP-seq
MIRT1463051	hsa-miR-548p	CLIP-seq
MIRT1463052	hsa-miR-561	CLIP-seq
MIRT1463053	hsa-miR-576-3p	CLIP-seq
MIRT1463054	hsa-miR-582-5p	CLIP-seq
MIRT1463055	hsa-miR-616	CLIP-seq
MIRT2139299	hsa-miR-1238	CLIP-seq
MIRT2139300	hsa-miR-1264	CLIP-seq
MIRT2139301	hsa-miR-3614-3p	CLIP-seq
MIRT2139302	hsa-miR-4468	CLIP-seq
MIRT1463042	hsa-miR-4720-3p	CLIP-seq
MIRT1463045	hsa-miR-4804-3p	CLIP-seq
MIRT1463047	hsa-miR-494	CLIP-seq
MIRT2396489	hsa-miR-3119	CLIP-seq
MIRT2396490	hsa-miR-3169	CLIP-seq
MIRT2396491	hsa-miR-4318	CLIP-seq
MIRT2396492	hsa-miR-4474-3p	CLIP-seq
MIRT2462658	hsa-miR-34a	CLIP-seq
MIRT2462659	hsa-miR-34c-5p	CLIP-seq
MIRT2462660	hsa-miR-3609	CLIP-seq
MIRT2462661	hsa-miR-449a	CLIP-seq
MIRT2462662	hsa-miR-449b	CLIP-seq
MIRT2462663	hsa-miR-512-3p	CLIP-seq
MIRT2462664	hsa-miR-548ah	CLIP-seq
MIRT2462665	hsa-miR-607	CLIP-seq
MIRT2653259	hsa-miR-1276	CLIP-seq
MIRT2653260	hsa-miR-2278	CLIP-seq
MIRT2653261	hsa-miR-3650	CLIP-seq
MIRT2653262	hsa-miR-371-5p	CLIP-seq
MIRT2653263	hsa-miR-371b-5p	CLIP-seq
MIRT2139302	hsa-miR-4468	CLIP-seq
MIRT2653264	hsa-miR-513c	CLIP-seq
MIRT2653265	hsa-miR-514b-5p	CLIP-seq
MIRT2653266	hsa-miR-938	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18849486
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0030220	Process	Platelet formation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046785	Process	Microtubule polymerization	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051225	Process	Spindle assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070327	Process	Thyroid hormone transport	IEA
GO:0070527	Process	Platelet aggregation	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA

MIM	HGNC	e!Ensembl
612901	16257	ENSG00000101162

Q9H4B7

Protein name

Tubulin beta-1 chain

Protein function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00091	Tubulin	3 → 212	Tubulin/FtsZ family, GTPase domain	Domain
PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins. {ECO:0000269|PubMed:20191564}.

Sequence

MREIVHIQIGQCGNQIGAKFWEMIGEEHGIDLAGSDRGASALQLERISVYYNEAYGRKYV
PRAVLVDLEPGTMDSIRSSKLGALFQPDSFVHGNSGAGNNWAKGHYTEGAELIENVLEVV
RHESESCDCLQGFQIVHSLGGGTGSGMGTLLMNKIREEYPDRIMNSFSVMPSPKVSDTVV
EPYNAVLSIHQLIENADACFCIDNEALYDICFRTLKLTTPTYGDLNHLVSLTMSGITTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTAQGSQQYRALSVAELTQQMFDARNTM
AACDLRRGRYLTVACIFRGKMSTKEVDQQLLSVQTRNSSCFVEWIPNNVKVAVCDIPPRG
LSMAATFIGNNTAIQEIFNRVSEHFSAMFKRKAFVHWYTSEGMDINEFGEAENNIHDLVS
EYQQFQDAKAVLEEDEEVTEEAEMEPEDKGH

Sequence length

451

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Phagosome	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Gap junction	MHC class II antigen presentation
Motor proteins	Separation of Sister Chromatids
Alzheimer disease	Resolution of Sister Chromatid Cohesion
Parkinson disease	HSP90 chaperone cycle for steroid hormone receptors (SHR)
Amyotrophic lateral sclerosis	Recruitment of NuMA to mitotic centrosomes
Huntington disease	Recycling pathway of L1
Prion disease	Hedgehog 'off' state
Pathways of neurodegeneration - multiple diseases	Cilium Assembly
Pathogenic Escherichia coli infection	Intraflagellar transport
Salmonella infection	RHO GTPases activate IQGAPs
	RHO GTPases Activate Formins
	COPI-mediated anterograde transport
	COPI-dependent Golgi-to-ER retrograde traffic
	COPI-independent Golgi-to-ER retrograde traffic
	Mitotic Prometaphase
	The role of GTSE1 in G2/M progression after G2 checkpoint
	Carboxyterminal post-translational modifications of tubulin
	HCMV Early Events
	Aggrephagy
	EML4 and NUDC in mitotic spindle formation
	Sealing of the nuclear envelope (NE) by ESCRT-III
	Kinesins

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	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (7)
Abnormal bleeding	Likely pathogenic	rs1300096139	RCV001270603	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypothyroidism	Pathogenic	rs560702757	RCV000714241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic	rs1601239696, rs1601238563, rs770554119	RCV000851666 RCV001003536 RCV001004042	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Pathogenic	rs2146377060	RCV002272630	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia, isolated, 1, autosomal dominant	Likely pathogenic; Pathogenic	rs376073390, rs890185415, rs1293743818, rs2515915876, rs1057517996, rs1300096139	RCV001330075 RCV002245394 RCV002280966 RCV002290091 RCV001030026 RCV005360012 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic	rs1601239459, rs1300096139	RCV000851911 RCV001270603	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TUBB1-related disorder	Likely pathogenic; Pathogenic	rs1057517996	RCV003922675	★★★★★ ★★★★☆ 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.
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	18849486, 18849486, 18849486	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	GWAS catalog	40465716	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOPENIA 4	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TUBA8	1	["Macrothrombocytopenia"]	28	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	2	["Orphanet (Macrothrombocytopenia)","Disgenet (Macrothrombocytopenia)"]
TUBB3	0	[]	30	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	0	[]
TUBB2B	0	[]	30	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	0	[]
TUBB2A	0	[]	30	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	0	[]
TUBB6	0	[]	30	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	0	[]

TUBB1 (tubulin beta 1 class VI)

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