TUBB1 (tubulin beta 1 class VI)

Gene

• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 612901
• HGNC: 16257
• e!Ensembl: ENSG00000101162

Protein

• UniProt ID: 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

Pathways

KEGG:

Phagosome
Gap junction
Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection

Reactome:

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
MHC class II antigen presentation
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
HSP90 chaperone cycle for steroid hormone receptors (SHR)
Recruitment of NuMA to mitotic centrosomes
Recycling pathway of L1
Hedgehog 'off' state
Cilium Assembly
Intraflagellar transport
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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic	rs1300096139	RCV001270603
Congenital hypothyroidism	Pathogenic	rs560702757	RCV000714241
Macrothrombocytopenia	Likely pathogenic	rs1601239696, rs1601238563, rs770554119	RCV000851666 RCV001003536 RCV001004042
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Pathogenic	rs2146377060	RCV002272630
Macrothrombocytopenia, isolated, 1, autosomal dominant	Likely pathogenic; Pathogenic	rs376073390, rs890185415, rs1293743818, rs2515915876, rs1057517996, rs1300096139	RCV001330075 RCV002245394 RCV002280966 RCV002290091 RCV001030026 RCV005360012
Thrombocytopenia	Likely pathogenic	rs1601239459, rs1300096139	RCV000851911 RCV001270603
TUBB1-related disorder	Likely pathogenic; Pathogenic	rs1057517996	RCV003922675

Associations from Text Mining
Disease Name	Relationship Type	References
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Associate	33217855
Blood Platelet Disorders	Associate	33400601, 34516618
Carcinoma Hepatocellular	Associate	36627693
Cardiovascular Diseases	Associate	15956286, 17488662
Carotid Artery Thrombosis	Associate	15956286
Cerebral Hemorrhage	Associate	17488662
Congenital Hypothyroidism	Associate	40071799
COVID 19	Associate	37291167
Hemorrhage	Associate	31389738
Hemorrhagic Stroke	Associate	17488662
Hypertension	Associate	25937569
Job Syndrome	Stimulate	29985426
Leiomyosarcoma	Associate	36344048
Macrothrombocytopenia X Linked	Associate	33400601
Neoplasms	Associate	32892537
Osteoarthritis	Associate	37291167
Prostatic Neoplasms	Associate	30444038
Purpura Thrombocytopenic Idiopathic	Associate	39808791
Thrombasthenia	Associate	31565851
Thrombocytopenia	Associate	32892537, 34516618
Thrombocytopenia 1	Associate	37792884
Thrombosis	Associate	17488662, 37647632
Thyroid Dysgenesis	Associate	40071799