Taf1 MGI Mouse Gene Detail - MGI:1336878 - TATA-box binding protein associated factor 1

Symbol

Taf1
Name

TATA-box binding protein associated factor 1
Synonyms

B430306D02Rik, Ccg-1, Ccg1, KAT4, Taf2a

Feature Type

protein coding gene
IDs

MGI:1336878
NCBI Gene: 270627
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

ChrX:100576335-100644635 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 44.29 cM
Mapping Data

16 experiments

SNPs within 2kb

1225 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1336878	protein coding gene	ChrX:100576335-100645395 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035963	protein coding gene	ChrX:98053561-98128160 (+)
A/J	MGP_AJ_G0035948	protein coding gene	ChrX:98046995-98117087 (+)
AKR/J	MGP_AKRJ_G0035864	protein coding gene	ChrX:100873548-100944351 (+)
BALB/cJ	MGP_BALBcJ_G0035931	protein coding gene	ChrX:96796819-96865609 (+)
C3H/HeJ	MGP_C3HHeJ_G0035640	protein coding gene	ChrX:98457130-98527525 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036460	protein coding gene	ChrX:100964804-101039221 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033290	protein coding gene	ChrX:95784123-95853286 (+)
CAST/EiJ	MGP_CASTEiJ_G0034927	protein coding gene	ChrX:82759234-82831498 (+)
CBA/J	MGP_CBAJ_G0035615	protein coding gene	ChrX:104094484-104170951 (+)
DBA/2J	MGP_DBA2J_G0035769	protein coding gene	ChrX:97263247-97332661 (+)
FVB/NJ	MGP_FVBNJ_G0035707	protein coding gene	ChrX:96639258-96710152 (+)
LP/J	MGP_LPJ_G0035859	protein coding gene	ChrX:99005447-99077024 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035742	protein coding gene	ChrX:108630531-108708439 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036487	protein coding gene	ChrX:97740826-97812402 (+)
PWK/PhJ	MGP_PWKPhJ_G0034626	protein coding gene	ChrX:80359504-80430770 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034454	protein coding gene	ChrX:83668694-83742974 (+)
WSB/EiJ	MGP_WSBEiJ_G0035066	protein coding gene	ChrX:96446805-96519995 (+)

Human Ortholog

TAF1, TATA-box binding protein associated factor 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TAF1, TATA-box binding protein associated factor 1
Synonyms

BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, NSCL2, N-TAF1, OF, P250, TAF2A, TAF(II)250, TAFII-250, TAFII250, XDP
Links

HGNC:11535

NCBI Gene ID: 6872

neXtProt AC: NX_P21675

UniProt: P21675
Chr Location

Xq13.1; chrX:71366136-71532374 (+) GRCh38

Human Ortholog

TAF1L, TATA-box binding protein associated factor 1 like
Synonyms

TAF2A2, TAF(II)210
Links

HGNC:18056

NCBI Gene ID: 138474

neXtProt AC: NX_Q8IZX4

UniProt: Q8IZX4
Chr Location

9p21.1; chr9:32629454-32635669 (-) GRCh38

MGI Vertebrate Homology

Taf1 stringent orthology
2 human;1 mouse;1 zebrafish
HCOP

vertebrate homology predictions: TAF1, TAF1L
Protein SuperFamily

TAF1_animal
Gene Tree

Taf1

Diseases

2 with human TAF1 associations

				Human Disease	Mouse Models
				syndromic X-linked intellectual disability IDs syndromic X-linked intellectual disability DOID:0060309 OMIM:PS309510
				X-linked dystonia-parkinsonism IDs X-linked dystonia-parkinsonism DOID:0090057 ICD10CM:G24.1 OMIM:314250 ORDO:53351

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

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Phenotype Summary

5 phenotype references

All Mutations and Alleles

14
Endonuclease-mediated

5
Gene trapped

9
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

12 strains or lines available

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All GO Annotations

94
GO References

16

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

857
Tissues

92
cDNA Data

123
Literature Summary

14

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase taf1

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All Sequences

78
RefSeq

25
UniProt

4
CCDS

CCDS41080.1, CCDS85793.1

Ensembl

ENSMUSG00000031314 (Evidence)
NCBI Gene

270627

			Length	Strain/Species	Flank
genomic	270627	NCBI Gene Model \| MGI Sequence Detail	68301	C57BL/6J	± kb
transcript	NM_001290729	RefSeq \| MGI Sequence Detail	7168	ZRU/MplStud
polypeptide	Q80UV9	UniProt \| EBI \| MGI Sequence Detail	1891	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000016014 transcription initiation factor TFIID subunit 1

(term hierarchy)
EC

2.3.1.48, 2.7.11.1
InterPro Domains

IPR001487 Bromodomain

IPR018359 Bromodomain, conserved site

IPR036427 Bromodomain-like superfamily

IPR009067 TAFII-230 TBP-binding

IPR036741 TAFII-230 TBP-binding domain superfamily

IPR040240 Transcription initiation factor TFIID subunit 1

IPR011177 Transcription initiation factor TFIID subunit 1, animal

IPR022591 Transcription initiation factor TFIID subunit 1, histone acetyltransferase domain

IPR041670 Zinc knuckle
GlyGen

Q80UV9 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 127

cDNA 125

Primer pair 2

Microarray probesets 3

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MGD-MRK-1796, MGD-MRK-1797, MGI:2147953, MGI:88292

Summaries

All 73

Developmental Gene Expression 14

Gene Ontology 16

Phenotypes 5
Earliest

J:12527 Derry JM, et al., Localization of the Ccg1 gene on the mouse X Chromosome. Cytogenet Cell Genet. 1989;51:988 (Abstr.)
Latest

J:352096 Crombie EM, et al., Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders. Dis Model Mech. 2024 Jul 1;17(7)

TSS for Taf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161678	ChrX:100576341-100576383 (+)	27 bp
Tssr161679	ChrX:100576398-100576481 (+)	105 bp
Tssr161680	ChrX:100577125-100577142 (+)	799 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