Tubb1 MGI Mouse Gene Detail - MGI:107814 - tubulin, beta 1 class VI

Symbol

Tubb1
Name

tubulin, beta 1 class VI
Synonyms

2810484G07Rik

Feature Type

protein coding gene
IDs

MGI:107814
NCBI Gene: 545486
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr2:174292488-174299675 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 97.95 cM, cytoband H
Mapping Data

2 experiments

SNPs within 2kb

324 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_107814	protein coding gene	Chr2:174292388-174300173 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026968	protein coding gene	Chr2:180808377-180818129 (+)
A/J	MGP_AJ_G0026935	protein coding gene	Chr2:173189671-173196979 (+)
AKR/J	MGP_AKRJ_G0026906	protein coding gene	Chr2:178405443-178412557 (+)
BALB/cJ	MGP_BALBcJ_G0026944	protein coding gene	Chr2:173584797-173593969 (+)
C3H/HeJ	MGP_C3HHeJ_G0026686	protein coding gene	Chr2:178784282-178792539 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027391	protein coding gene	Chr2:186002754-186009924 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024760	protein coding gene	Chr2:166424862-166432174 (+)
CAST/EiJ	MGP_CASTEiJ_G0026145	protein coding gene	Chr2:179514267-179521453 (+)
CBA/J	MGP_CBAJ_G0026663	protein coding gene	Chr2:192933681-192943381 (+)
DBA/2J	MGP_DBA2J_G0026801	protein coding gene	Chr2:172288610-172295710 (+)
FVB/NJ	MGP_FVBNJ_G0026767	protein coding gene	Chr2:170912280-170919555 (+)
LP/J	MGP_LPJ_G0026902	protein coding gene	Chr2:180721036-180730039 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026786	protein coding gene	Chr2:195827691-195834852 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027448	protein coding gene	Chr2:178434387-178441650 (+)
PWK/PhJ	MGP_PWKPhJ_G0025881	protein coding gene	Chr2:172102955-172110559 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025681	protein coding gene	Chr2:177480905-177488320 (+)
WSB/EiJ	MGP_WSBEiJ_G0026217	protein coding gene	Chr2:179398648-179405737 (+)

Human Ortholog

TUBB1, tubulin beta 1 class VI

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TUBB1, tubulin beta 1 class VI
Synonyms

MACTHC1
Links

HGNC:16257

NCBI Gene ID: 81027

neXtProt AC: NX_Q9H4B7

UniProt: Q9H4B7
Chr Location

20q13.32; chr20:59016438-59026654 (+) GRCh38

MGI Vertebrate Homology

Tubb1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TUBB1
Gene Tree

Tubb1

Diseases

1 with human TUBB1 associations

				Human Disease	Mouse Models
				autosomal dominant isolated macrothrombocytopenia 1 IDs autosomal dominant isolated macrothrombocytopenia 1 DOID:0090102 ICD10CM:D69.4 OMIM:613112 ORDO:140957

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

4 phenotypes from 1 allele in 2 genetic backgrounds
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Endonuclease-mediated

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available

Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects.

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All GO Annotations

25
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

739
Tissues

10
cDNA Data

8
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA TUBB1

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All Sequences

34
RefSeq

3
UniProt

1
CCDS

CCDS38359.1

Ensembl

ENSMUSG00000016255 (Evidence)
NCBI Gene

545486

			Length	Strain/Species	Flank
genomic	ENSMUSG00000016255	Ensembl Gene Model \| MGI Sequence Detail	7188	C57BL/6J	± kb
transcript	ENSMUST00000016399	Ensembl \| MGI Sequence Detail	1406	Not Applicable
polypeptide	ENSMUSP00000016399	Ensembl \| MGI Sequence Detail	451	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000016815 tubulin beta-1 chain

(term hierarchy)
InterPro Domains

IPR002453 Beta tubulin

IPR013838 Beta tubulin, autoregulation binding site

IPR000217 Tubulin

IPR017975 Tubulin, conserved site

IPR023123 Tubulin, C-terminal

IPR018316 Tubulin/FtsZ, 2-layer sandwich domain

IPR008280 Tubulin/FtsZ, C-terminal

IPR003008 Tubulin/FtsZ, GTPase domain

IPR036525 Tubulin/FtsZ, GTPase domain superfamily

IPR037103 Tubulin/FtsZ-like, C-terminal domain

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All nucleic 10

cDNA 8

Primer pair 1

Other 1

Microarray probesets 3

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MGD-MRK-36391, MGI:1920067

Summaries

All 49

Developmental Gene Expression 8

Gene Ontology 8

Phenotypes 8
Earliest

J:35227 Wang D, et al., The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype. J Cell Biol. 1986 Nov;103(5):1903-10
Latest

J:340672 Kimmerlin Q, et al., Loss of alpha4A- and beta1-tubulins leads to severe platelet spherocytosis and strongly impairs hemostasis in mice. Blood. 2022 Nov 24;140(21):2290-2299

TSS for Tubb1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr22154	Chr2:174292471-174292501 (+)	-2 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24