Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	81027
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin beta 1 class VI
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUBB1
Synonyms (NCBI Gene) Gene synonyms aliases	MACTHC1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MACTHC1
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.32
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(11)

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

Show/Hide all(67)

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

Show/Hide all(10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	18849486
GO:0005874	Component	Microtubule	IBA	21873635
GO:0051225	Process	Spindle assembly	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
612901	16257	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

Interactions

View interactions

	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Macrothrombocytopenia	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related, Macrothrombocytopenia, Autosomal dominant macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302 View all (32 more)	18849486, 24344610, 31064749
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Coronary syndrome	Acute Coronary Syndrome		21751358	ClinVar

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
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

TUBB1 (tubulin beta 1 class VI)