Paxx (PAXX non-homologous end joining factor)

Gene: Paxx (PAXX non-homologous end joining factor) Chinchilla lanigera

Analyze

Symbol:

Paxx

Name:

PAXX non-homologous end joining factor

RGD ID:

8747332

Description:

ENCODES a protein that exhibits DNA polymerase binding (ortholog); identical protein binding (ortholog); molecular adaptor activity (ortholog); INVOLVED IN DNA damage response (ortholog); double-strand break repair via nonhomologous end joining (ortholog); ASSOCIATED WITH Adams-Oliver Syndrome 5 (ortholog); autosomal dominant intellectual developmental disorder 8 (ortholog); autosomal dominant nocturnal frontal lobe epilepsy 5 (ortholog); FOUND IN Ku70:Ku80 complex (ortholog); nonhomologous end joining complex (ortholog); nucleoplasm (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

chromosome unknown open reading frame, human C9orf142; LOC102028998; PAXX, non-homologous end joining factor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955513	5,017,971 - 5,019,489 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	5,017,971 - 5,019,489 (+)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Adams-Oliver Syndrome 5 (ISO)

autosomal dominant intellectual developmental disorder 8 (ISO)

autosomal dominant nocturnal frontal lobe epilepsy 5 (ISO)

developmental and epileptic encephalopathy 14 (ISO)

epilepsy (ISO)

Joubert syndrome 1 (ISO)

Kleefstra syndrome 1 (ISO)

Leigh disease (ISO)

primary coenzyme Q10 deficiency 7 (ISO)

Rafiq syndrome (ISO)

tuberous sclerosis 1 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA damage response (ISO)

double-strand break repair via nonhomologous end joining (ISO)

Cellular Component

Ku70:Ku80 complex (ISO)

nonhomologous end joining complex (ISO)

nucleoplasm (ISO)

nucleus (ISO)

site of double-strand break (ISO)

Molecular Function

DNA polymerase binding (ISO)

identical protein binding (ISO)

molecular adaptor activity (ISO)

protein binding (ISO)

protein homodimerization activity (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Paxx
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955513	5,017,971 - 5,019,489 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955513	5,017,971 - 5,019,489 (+)	NCBI	ChiLan1.0	ChiLan1.0

PAXX
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	136,992,422 - 136,993,976 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	136,992,422 - 136,993,984 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	139,886,874 - 139,888,428 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	139,006,691 - 139,008,249 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	110,399,180 - 110,400,738 (+)	NCBI		Celera
Cytogenetic Map	9	q34.3	NCBI
HuRef	9	109,345,976 - 109,347,534 (+)	NCBI		HuRef
CHM1_1	9	140,035,627 - 140,037,185 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	9	149,226,833 - 149,228,387 (+)	NCBI		T2T-CHM13v2.0

Paxx
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	25,345,132 - 25,352,666 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	25,345,153 - 25,351,106 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	25,455,120 - 25,462,654 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	25,455,141 - 25,461,094 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	25,315,008 - 25,316,614 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	25,281,497 - 25,283,103 (-)	NCBI		MGSCv36	mm8
Celera	2	25,186,977 - 25,188,583 (-)	NCBI		Celera
Cytogenetic Map	2	A3	NCBI
cM Map	2	17.27	NCBI

Paxx
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	28,672,906 - 28,676,252 (-)	NCBI		GRCr8
mRatBN7.2	3	8,274,762 - 8,276,322 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	8,274,762 - 8,276,521 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	11,379,836 - 11,381,396 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	19,966,060 - 19,967,620 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	18,155,908 - 18,157,468 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	2,678,987 - 2,681,668 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	2,678,956 - 2,680,622 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	2,660,400 - 2,662,025 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	3,625,547 - 3,627,090 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	3,625,550 - 3,627,166 (-)	NCBI
Celera	3	3,099,865 - 3,101,408 (-)	NCBI		Celera
Cytogenetic Map	3	p13	NCBI

PAXX
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	11	2,404,868 - 2,406,487 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	2,407,205 - 2,408,794 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	108,052,793 - 108,055,298 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	137,021,230 - 137,022,812 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	137,021,230 - 137,022,805 (+)	Ensembl	panpan1.1		panPan2

PAXX
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	48,637,735 - 48,639,289 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	48,637,731 - 48,639,239 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	47,851,392 - 47,852,948 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	49,515,823 - 49,517,381 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	49,515,819 - 49,517,325 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	48,292,036 - 48,293,594 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	48,590,753 - 48,592,303 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	48,638,112 - 48,639,666 (-)	NCBI		UU_Cfam_GSD_1.0

Paxx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	202,422,235 - 202,423,802 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936669	951,261 - 952,769 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936669	951,256 - 952,804 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PAXX
(Sus scrofa - pig)

No map positions available.

PAXX
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	12	1,200,945 - 1,202,628 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	12	1,201,116 - 1,202,505 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666058	4,098,761 - 4,102,845 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Paxx
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624760	913,574 - 914,708 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624760	912,953 - 914,793 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005408570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01066950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBCQ01041922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000010933 ⟹ ENSCLAP00000010800

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955513	5,017,971 - 5,019,489 (+)	Ensembl

RefSeq Acc Id:

XM_005408570 ⟹ XP_005408627

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955513	5,017,971 - 5,019,489 (+)	NCBI

Sequence:

show sequence

CTCCGCCCCATACCAAGCCCCGCCCCGCACGCCGCTAGCACCGCCCCGGGGCCAGACAGCCCTA
CCCGCCTCCCGCCCCGCGCAGGCGCCCTAAGCCCCACGTCCGGCCCGCCAGACCTCCGAGGCCG
GCCTTCTGCGCAGGCGCGCTGGGCCCGCGCGCGCGGAACTGTCAACATGGTCCCGCCGCCGCCG
CCACTGTCGCCTCCGCTCTGCACGCTGCCTCCGGGCCCGGGGCCTCCCCGCTTCGTGTGCTACT
GCGAGCCGGAGGGTAGCGGGGCCGGGGATCGTGGCGTCTTCCACCTCCACGTGACGGACGGCGT
GGAGCTCTGGAGCGCCCGCCTCCCGCAGGACAGCGAGGCCGCGCGCAAAGCCTGCAGCGGCCTG
GGTGTGCACGAGGACCTCGCCGCGCGGTTCAGGACCGCCTGCCAGCAGCAAGCCGTCGCCCTGA
GCCTGCAGGAGGACAGCGCCTCCCTGACCCTCTCTGGGCCTCTCCCGACGCTGACCTTTGACCT
CTCCAAGGTGCCCGGCCCTGAGGCAGTCCCCAGGCTGCAGGCGCTGACCCTGGACCTGGCACAG
CGCGTGTGCAGCCTGGAACAGCGCCTGGCAGCTGTGGAAGAGACAGCTGCCAGTCCCAGGAAGA
GCCCCCGGCCGGCAGGGCCTCCGCTCTTCTTACCAGACTCCGATCCCCAGCGAGGCGGCGGCCC
TGGAGCTGGGGTCAGGAGACGCTGTCCTGGGGAGTCCCTCATCAACCCTGGCTTCAAGAGCAAG
AAACCGGCCGGTGGCGTGGACTTTGACGAGCCCTGAAGGAACAGCAGGACACTAGGCCTTTCAA
GGAGTCTGCGTGGGAGGGGACACGGCCCGCGGGACCCACTTACTGTGCTGCTGCTCCCCTGTCC
TTCCTAGCCATCTAATAAACGGCCCTCAGGTCGAG

hide sequence

Protein Sequences


Protein RefSeqs	XP_005408627	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000010800
	ENSCLAP00000010800.1

RefSeq Acc Id:

XP_005408627 ⟸ XM_005408570

- UniProtKB:

A0A8C2YN38 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MVPPPPPLSPPLCTLPPGPGPPRFVCYCEPEGSGAGDRGVFHLHVTDGVELWSARLPQDSEAAR
KACSGLGVHEDLAARFRTACQQQAVALSLQEDSASLTLSGPLPTLTFDLSKVPGPEAVPRLQAL
TLDLAQRVCSLEQRLAAVEETAASPRKSPRPAGPPLFLPDSDPQRGGGPGAGVRRRCPGESLIN
PGFKSKKPAGGVDFDEP

hide sequence

RefSeq Acc Id:

ENSCLAP00000010800 ⟸ ENSCLAT00000010933

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000007451	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000010933	ENTREZGENE
	ENSCLAT00000010933.1	UniProtKB/TrEMBL
InterPro	PAXX	UniProtKB/TrEMBL
NCBI Gene	LOC102028998	ENTREZGENE
PANTHER	PROTEIN PAXX	UniProtKB/TrEMBL
	PTHR28586	UniProtKB/TrEMBL
Pfam	PAXX	UniProtKB/TrEMBL
UniProt	A0A8C2YN38	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	Paxx	PAXX non-homologous end joining factor		PAXX, non-homologous end joining factor	Symbol and/or name change	5135510	APPROVED
2017-06-13	Paxx	PAXX, non-homologous end joining factor	LOC102028998	chromosome unknown open reading frame, human C9orf142	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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