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Gene: Pjvk (pejvakin) Chinchilla lanigera

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Symbol:

Pjvk

Name:

pejvakin

RGD ID:

9001219

Description:

INVOLVED IN detection of mechanical stimulus involved in sensory perception of sound (ortholog); pexophagy (ortholog); programmed cell death in response to reactive oxygen species (ortholog); ASSOCIATED WITH autosomal recessive nonsyndromic deafness (ortholog); autosomal recessive nonsyndromic deafness 59 (ortholog); beta thalassemia (ortholog); FOUND IN ciliary rootlet (ortholog); cortical actin cytoskeleton (ortholog); cytoplasm (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

deafness, autosomal recessive 59; Dfnb59

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	PJVK (pejvakin)	NCBI	Ortholog
Mus musculus (house mouse):	Pjvk (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Pjvk (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	PJVK (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Canis lupus familiaris (dog):	PJVK (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pjvk (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	PJVK (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	PJVK (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Pjvk (pejvakin)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

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_004955403	18,386,705 - 18,393,771 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	18,386,705 - 18,393,771 (-)	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

autosomal recessive nonsyndromic deafness (ISO)

autosomal recessive nonsyndromic deafness 59 (ISO)

beta thalassemia (ISO)

Deafness (ISO)

dilated cardiomyopathy 1G (ISO)

dystonia (ISO)

dystonia 16 (ISO)

genetic disease (ISO)

Hearing Loss (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

detection of mechanical stimulus involved in sensory perception of sound (ISO)

pexophagy (ISO)

programmed cell death in response to reactive oxygen species (ISO)

regulation of peroxisome organization (ISO)

response to reactive oxygen species (ISO)

sensory perception of sound (ISO)

stereocilium maintenance (ISO)

Cellular Component

ciliary rootlet (ISO)

cortical actin cytoskeleton (ISO)

cytoplasm (ISO)

neuronal cell body (ISO)

peroxisomal membrane (ISO)

stereocilium base (ISO)

Molecular Function

protein binding (ISO)

References

References - curated

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

Additional References at PubMed

PMID:30032202

Genomics

Comparative Map Data

Pjvk
(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_004955403	18,386,705 - 18,393,771 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955403	18,386,705 - 18,393,771 (-)	NCBI	ChiLan1.0	ChiLan1.0

PJVK
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	178,451,378 - 178,462,102 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	178,451,346 - 178,462,102 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	179,316,105 - 179,326,829 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	179,026,351 - 179,034,310 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	172,919,049 - 172,928,999 (+)	NCBI		Celera
Cytogenetic Map	2	q31.2	NCBI
HuRef	2	171,186,847 - 171,196,797 (+)	NCBI		HuRef
CHM1_1	2	179,322,170 - 179,332,144 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	178,934,171 - 178,944,894 (+)	NCBI		T2T-CHM13v2.0

Pjvk
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	76,480,617 - 76,488,898 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	76,478,820 - 76,488,900 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	76,650,273 - 76,658,554 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	76,648,476 - 76,658,556 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	76,488,330 - 76,496,613 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	76,449,338 - 76,459,395 (+)	NCBI		MGSCv36	mm8
Celera	2	78,311,949 - 78,320,233 (+)	NCBI		Celera
Cytogenetic Map	2	C3	NCBI
cM Map	2	45.08	NCBI

Pjvk
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	82,002,106 - 82,012,273 (+)	NCBI		GRCr8
mRatBN7.2	3	61,594,644 - 61,605,051 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	61,596,641 - 61,605,045 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	3	63,508,386 - 63,518,163 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	63,510,293 - 63,518,147 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	70,083,296 - 70,091,353 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	59,348,728 - 59,356,706 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	61,080,528 - 61,090,733 (+)	NCBI		Celera
Cytogenetic Map	3	q24	NCBI

PJVK
(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	13	81,098,713 - 81,111,146 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	81,113,687 - 81,124,634 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	65,708,635 - 65,725,766 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	183,413,375 - 183,423,503 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	183,413,265 - 183,423,224 (+)	Ensembl	panpan1.1		panPan2

PJVK
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	36	22,080,574 - 22,087,537 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	36	22,040,303 - 22,092,249 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	36	22,099,201 - 22,106,550 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	36	22,224,490 - 22,231,855 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	36	22,183,736 - 22,231,259 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	36	22,333,855 - 22,341,196 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	36	22,296,525 - 22,303,268 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	36	22,412,988 - 22,420,325 (+)	NCBI		UU_Cfam_GSD_1.0

Pjvk
(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_024405303	139,115,170 - 139,124,763 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936509	7,670,325 - 7,677,581 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936509	7,670,557 - 7,677,480 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PJVK
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	84,158,639 - 84,165,906 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	84,157,864 - 84,165,763 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	93,691,740 - 93,699,282 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PJVK
(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	10	64,004,113 - 64,013,025 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	64,005,259 - 64,014,571 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	135,561,744 - 135,613,400 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pjvk
(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_004624844	426,636 - 433,043 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624844	424,903 - 432,841 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005373379	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01002098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDJ01222619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCLAT00000015747 ⟹ ENSCLAP00000015585

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955403	18,386,705 - 18,393,771 (-)	Ensembl

RefSeq Acc Id:

XM_005373379 ⟹ XP_005373436

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955403	18,386,705 - 18,393,771 (-)	NCBI

Sequence:

show sequence

TCCCGGCGCCCCGCTTCGGCTTTCGGGCCCGCGGCGCCCGGCCCTGACCCCCGGGTGTCCCTGC
GTCCTGACCCTGCGCCCTTCATCCTCAGAAGCGGTGCTGGCCGCGCTGGGCCCCGGGTCTGCGA
GCCCCGCCGCTCAGCTTGTCGAGGGATGCGGAGTAAAGATTGGGGGCTGGACATTTTAAGAAAG
ATTTTAAAATTCTGAAATCGGAATTGCCAGAGAACCCGAGCGAGCCTGTCCGGAAAACTGGAGG
CCCTGGGTTGATCTGCCCAGGAGGCTGCGGCGGGCTCCCGGCCCGAGCCTCGCGGGCAGCCGCC
TCTCCCCTGCGGCCGGCGCCTTTGTCTGGAGGGTTTTCGTGGCGAGTTGCACGGAGGGCCGCGG
AGCCAGCCCAGCAAGGCACTGGGGTGTACCACAATCCTGGTGTCAGAATCCTGGCAGATGCCGA
TTCTGCCTGCCTGGGTTGTTGGTTTTAATGGCGTTTGCCTGGAATGCACCACCTTTGGTGGGGG
TTGACCTTAGGTGTGTCGCCTAAGGGGTTTGCTAGCCACTTGTGGAAAAGGCTCCCTGTGCTTA
CTAGGTGCTGTGAAATACGGGTTTACACAATGTTACTGTGTCTCCCAAAGGAACGTTATTAAAG
TATGTTTTTGGTTGCATGTCAGCCTTGGATATTTGAAAGCAAGCAAGAGAGTATCTAGAATCTA
ATTAAGCAGATTTCAGTTATTTGAGGCTTAAGCCTACACTCTCCTCCTGTACCTCCTGCATGTA
TATTGATTATTATTACCCAACAATGTTACACTTTCATGAATAACATTATAAGAACATTATAAGA
CACAATTTCCAAATGCGTTAATGTAAGCTAGGGATGGTGGTGGATCATGCGTGTAATCCTAGCA
GTCTGGGAGGCCGAGGCAAGGGGGATTGCCCTTCCCCCTTAATGCCCTCCCTGCACTAACCACA
AGCTATTTCAGTAGAGATTTGTCCCCAAAATTTATTTTTAGCCACAAAATTCCTTAAAAATAAA
CCAACCCCTTACATGGCTCTTTACAGTTTGAGTAATTGGTATAATGATGAGACAAATCAAAAGT
TAATCAACAGTTCTGCAGCAGGACTCCATTTCAGGTGTTGTAGACCAAGTGCCCAGCTTCTGAG
GAAGAAACCACTGCATTCTGATAGGTTTTTTTTTTTTACATGTAATGTAGCTTTTAGTGTTTTA
TAAAGATCTGCATATAATTGTTTCCACATATTCTGTGAAATTATAGTCAGTATTAACACAGTTT
TGTAAACATACGAGACAAAACGAATGAAGTGCTCACACAGTGAACTATATACCATGAGGATTCA
AATCAGCACTTTTCTGTTGCCACAATTGGCCTGGTGGACTTGTGAAGGAATTCCCTTTGGACTA
GGTCCATGGTAGATAATATTCAGGACTGATGTTAGTGCCTAAATTGCATTGTTTCCCATTGGAA
TATATGCTCCCCGCAAGATTGGCCTATTGCCACTGCCAAATCGCTATCAGTGGAAGAATCTTCA
GCAAGGATATTGTTAGTGTGCTTGAATTCATTTTCTGTGTATGTTTTAGTATTGTCGCTTGCCA
TTCCAAATGAGACCTGCTTTTAGTGTATCATTTTCCCCCGCGATCTATTATTTATTACCTGAGC
GCATGAGGAAGGCGGTGTTGTGATACACACGTTGGTAAACGTCTTGGTGAGACCATACTTTGTA
TTTTTACCGTGTGTAATTACATTTGAGATCAAGCAAAGCTTAGTTTTGTTATTGATTTTCCTCG
GTGAAGATGGATTTGTTACCTGGGGATTGCAGTTGATGACGTTTTGATATTAATATGTTTGCTG
CTGCTACCAAGAGCTTTGTCAAGCAAGTTGGAGATGGAGGGAGATTAGTTCCTGTTCCAAGCCT
CAGTGAAGCTGACAAATACCAACCTCTAAGTCTGGTGGTAAAAAAGAAGCGATGCTTTCTGTTT
CCTAGATATAAATTTACCTCAACGCCCTTTACACTGAAAGATATTCTCCTCGGAGATAGAGAAA
TTTCAGCTGGCATTTCATCTTATCAGTTATTGAATTATGAAGATGAATCAGATGTTTCACTCTA
TGGACGTCGAGGCAACCATATTGTAAATGACGTTGGGATTAATGTTACTGGATCAGATTCCATT
GCAGTAAAAGCTTCATTTGGTGTAGTTACTAAACATGAAGTGGAAGTATCAACATTACTAAAGG
AAATTACTACACGAAAGATTAACTTTGACCACAGCTTGATACGTCAGTCAAGGAGCAGCAGGAA
GGCAGTGTTGTGCGTGGTCATGGAAAGTATTAGAACCACACGACAGTGCTCGCTGTCCGTCCAC
GCGGGAATCCGAGGGGAAGCAATGCGGTTTCATTTTATGGATGAACAGAATCCCAAGGGAAGGG
ACAAAGCTATTGTTTTTCCAGCACATACAACCATAGCTTTCAGTGTTTTTGAACTCTTCATTTA
CCTGGATGGTGCCTTTGACCTTTGTGTCACTTCAGTGTCAAAAGGAGGATTTGAAAGGGAAGAA
ACGGCAACATTTGCACTACTCTACAGACTGAGAAATATACTATTTGAAAGAAATAGAAGAGTGA
TGGATGCCATTTCTCGCTCACAGTTTTACTTGGATGATCTTTTTTCTGACTACTATGACAAACC
TCTCAGCATGACTGATATTTCGCTTAAGGAAGGGACTCACATCCGAGTTAACTTACTCAATCAC
AACATTCCCAAAGGGCCTTGCATACTCTGTGGAATGGGGAACTTAAAAAGGGAGACAGTCTATG
GCTGCTTTCAGTGTTCTGTGGATGGACAGAAGTATGTTAGACTTCATGCAGTCCCTTGTTTTGA
TATTTGGCACAAGAGGATGAAATAAAAAGAAAAATGGAATATA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005373436	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000015585
	ENSCLAP00000015585.1

RefSeq Acc Id:

XP_005373436 ⟸ XM_005373379

- UniProtKB:

A0A8C2VMQ3 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLG
DREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVTGSDSIAVKASFGVVTKHEVEVST
LLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNP
KGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERN
RRVMDAISRSQFYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNLKRE
TVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK

hide sequence

Ensembl Acc Id:

ENSCLAP00000015585 ⟸ ENSCLAT00000015747

Protein Domains

Gasdermin pore forming

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000010713	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000015747	ENTREZGENE
	ENSCLAT00000015747.1	UniProtKB/TrEMBL
InterPro	Gasdermin_pore	UniProtKB/TrEMBL
	GSDME	UniProtKB/TrEMBL
NCBI Gene	Dfnb59	ENTREZGENE
PANTHER	NONSYNDROMIC HEARING IMPAIRMENT PROTEIN	UniProtKB/TrEMBL
	PEJVAKIN	UniProtKB/TrEMBL
Pfam	Gasdermin	UniProtKB/TrEMBL
UniProt	A0A8C2VMQ3	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-07-04	Pjvk	pejvakin	Dfnb59	deafness, autosomal recessive 59	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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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM