Cavin1 (caveolae associated protein 1)

Gene: Cavin1 (caveolae associated protein 1) Chinchilla lanigera

Analyze

Symbol:

Cavin1

Name:

caveolae associated protein 1

RGD ID:

8749846

Description:

ENCODES a protein that exhibits identical protein binding (ortholog); rRNA primary transcript binding (ortholog); INVOLVED IN positive regulation of cell motility (ortholog); protein secretion (ortholog); rRNA transcription (ortholog); PARTICIPATES IN RNA polymerase I transcription pathway; ASSOCIATED WITH congenital generalized lipodystrophy (ortholog); congenital generalized lipodystrophy type 4 (ortholog); diabetes mellitus (ortholog); FOUND IN caveola (ortholog); cytoplasm (ortholog); endoplasmic reticulum (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

polymerase I and transcript release factor; Ptrf

RGD Orthologs

Alliance Genes

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_004955451	16,364,915 - 16,374,634 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	16,364,915 - 16,374,523 (-)	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

congenital generalized lipodystrophy (ISO)

congenital generalized lipodystrophy type 4 (ISO)

diabetes mellitus (ISO)

genetic disease (ISO)

growth hormone insensitivity syndrome with immune dysregulation 1 (ISO)

hyper IgE recurrent infection syndrome 1 (ISO)

methylmalonic acidemia (ISO)

pulmonary hypertension (ISO)

Weight Gain (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

positive regulation of cell motility (ISO)

protein secretion (ISO)

rRNA transcription (ISO)

termination of RNA polymerase I transcription (ISO)

transcription initiation at RNA polymerase I promoter (ISO)

Cellular Component

caveola (ISO)

cytoplasm (ISO)

endoplasmic reticulum (ISO)

intracellular membrane-bounded organelle (ISO)

membrane raft (ISO)

mitochondrion (ISO)

nucleus (ISO)

plasma membrane (ISO)

protein-containing complex (ISO)

Molecular Function

identical protein binding (ISO)

protein binding (ISO)

rRNA primary transcript binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

RNA polymerase I transcription pathway (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

Cavin1
(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_004955451	16,364,915 - 16,374,634 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955451	16,364,915 - 16,374,523 (-)	NCBI	ChiLan1.0	ChiLan1.0

CAVIN1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	42,402,449 - 42,423,256 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	42,402,449 - 42,423,256 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	40,554,467 - 40,575,274 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	37,808,001 - 37,828,800 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	37,808,000 - 37,828,800	NCBI
Celera	17	37,209,860 - 37,230,741 (-)	NCBI		Celera
Cytogenetic Map	17	q21.2	NCBI
HuRef	17	36,319,636 - 36,340,510 (-)	NCBI		HuRef
CHM1_1	17	40,790,357 - 40,811,225 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	43,259,715 - 43,280,533 (-)	NCBI		T2T-CHM13v2.0

Cavin1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	100,847,562 - 100,861,443 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	100,847,559 - 100,861,713 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	100,956,736 - 100,970,617 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	100,956,733 - 100,970,887 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	100,818,050 - 100,831,931 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	100,772,826 - 100,786,707 (-)	NCBI		MGSCv36	mm8
Celera	11	112,252,831 - 112,266,712 (-)	NCBI		Celera
Cytogenetic Map	11	D	NCBI
cM Map	11	63.95	NCBI

Cavin1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	86,384,401 - 86,398,240 (-)	NCBI		GRCr8
mRatBN7.2	10	85,884,100 - 85,896,136 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	85,889,036 - 85,896,120 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	90,920,367 - 90,932,349 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	90,398,948 - 90,411,164 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	85,792,119 - 85,804,336 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	88,862,513 - 88,874,495 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	88,860,733 - 88,874,528 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	88,659,595 - 88,671,569 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	89,893,481 - 89,905,343 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	89,907,956 - 89,920,032 (-)	NCBI
Celera	10	84,601,760 - 84,613,734 (-)	NCBI		Celera
Cytogenetic Map	10	q31	NCBI

CAVIN1
(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	19	22,561,005 - 22,582,092 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	24,451,217 - 24,472,071 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	14,892,936 - 14,914,017 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	15,117,091 - 15,136,724 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	15,117,091 - 15,139,223 (+)	Ensembl	panpan1.1		panPan2

CAVIN1
(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	20,511,079 - 20,525,973 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	20,511,089 - 20,524,794 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	19,973,100 - 19,987,993 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	21,230,262 - 21,245,153 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	21,230,250 - 21,245,142 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	20,015,951 - 20,030,833 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	20,281,303 - 20,296,174 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	20,385,360 - 20,400,256 (+)	NCBI		UU_Cfam_GSD_1.0

Cavin1
(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_024405602	19,860,801 - 19,877,554 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936490	17,197,585 - 17,200,041 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CAVIN1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	20,372,476 - 20,389,509 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	20,372,476 - 20,390,250 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	20,689,222 - 20,690,171 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CAVIN1
(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	16	63,840,693 - 63,863,162 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	63,840,859 - 63,863,296 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666077	34,649,021 - 34,670,341 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cavin1
(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_004624795	1,624,373 - 1,634,292 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624795	1,624,535 - 1,635,409 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005394458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01043673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBDK01017777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000024224 ⟹ ENSCLAP00000023994

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955451	16,364,915 - 16,374,634 (-)	Ensembl

RefSeq Acc Id:

XM_005394458 ⟹ XP_005394515

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955451	16,364,915 - 16,374,523 (-)	NCBI

Sequence:

show sequence

CGGCGCGGGCAGTGCTGGCCGCCGTCCCGGGGCGCACGGACGTGGCTCGCGTTTCCTGCGCGCC
CGGCTCCCCGCGCCCCCGCTCCGCGCCGTCTTCGCCGGCTCCGCGTCGCCCGCTGCCCCCGGTC
GGCCCCGGACAGCCATGGAGGACGTCACGCTGCACATCGTGGAGCGCCCTTTCGCGGGGTACCC
GGACGCGGCCGAGGCCTCTGAGCCCCCCGCCGGGGGCGCCCCGGCCGCCGAGGAGCCGTCTGGG
GCCGGCGCGGAGGAGCTGATCAAGGCGGACCAGGTGAACGGCGTGCTGGTGCTCAGCCTGCTGG
ACAAGATCATCGGCGCCGTGGACCAGATCCAGCTGACCCAGGCGCAGCTGGAGGAGCGGCAGGC
GGAGATGGAGGGCGCGGTGCAGAGCATCCAGGCGGAGCTGGCCAAGCTGGGCCGCGCGCACGCC
GCCACCAGCGGCACGGTGGGGAAGCTGCTGGACAAGGTGCGCAAGGTCAGCGTGAACGTCAAGA
CGGTGCGCGGCAGCCTGGAGCGCCAGGCGGCGCAGATCAAGAAGCTGGAGGCCAACGAGGCCGA
GCTGCTGCGGCGCCGCAACTTCAAAGTCATGATCTACCAGGACGAGGTGAAGCTGCCGGCCAAG
CTGAGCGTGAGCAAGTCGCTCAAGGAGGCGGAAGCGCTGCCCGAGCGCGAGGGCGAGGACGCAG
GCGAGGGCGCGCGGCCTGAGGACGAGGAGGACGCGGCGGCGCCCGAGCTGTCGTCGGACGAGGC
GGTGGAGGTGGAGGAGGTGATCGAGGAGTCGCGCGCCGAGCGCATCCGGCGCAGCGGGATGCGG
CGCGTGGACGACCTGCGCAAGGCCTTCTCACGCGAGAAGATGGAGCGCACGCGCCTGCGCACCA
AGGAGAACCTGGAGAAGACGCGCGTGCGCACCCGTGAGAACCTGGAGAAGACGCGGCACTCGCT
GGAGCGGCGCGTGACCACGCTGGGCGCGCGCCTCGTGCCAGCGGAGCGCCGTGAGAAGCTGCGG
TCCTCTCGCGAGAAGCTGCGCAAGTCCTTCACTCCCGACCACGTGGTGTACGCGCGCTCCAAGA
CCGCTGTCTACAAGGTGCCGCCCTTCACCTTCCATGTCAAGAAGATCCGCGAGGGTGCGGCCGA
GCCTCCACGTGCCACCGAGATGGTGCCGGTGGGCGCCGACGAGGATGAGCCCGGGCCCGAGCGC
AGTGACGCCGGCGACCTGCTGCGCGCCAGCAGCCCCGACATGCACGCGCTGCTGGAGATCACCG
AGGAGTCGGACGCCGTGCTGGTGGACAGGAGCGACAGCGACTGAGCCCTCCCTGCTGTCCCTTG
CCCGCTTGCTCTG

hide sequence

Protein Sequences


Protein RefSeqs	XP_005394515	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000023994
	ENSCLAP00000023994.1

RefSeq Acc Id:

XP_005394515 ⟸ XM_005394458

- UniProtKB:

A0A8C2W2I2 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MEDVTLHIVERPFAGYPDAAEASEPPAGGAPAAEEPSGAGAEELIKADQVNGVLVLSLLDKIIG
AVDQIQLTQAQLEERQAEMEGAVQSIQAELAKLGRAHAATSGTVGKLLDKVRKVSVNVKTVRGS
LERQAAQIKKLEANEAELLRRRNFKVMIYQDEVKLPAKLSVSKSLKEAEALPEREGEDAGEGAR
PEDEEDAAAPELSSDEAVEVEEVIEESRAERIRRSGMRRVDDLRKAFSREKMERTRLRTKENLE
KTRVRTRENLEKTRHSLERRVTTLGARLVPAERREKLRSSREKLRKSFTPDHVVYARSKTAVYK
VPPFTFHVKKIREGAAEPPRATEMVPVGADEDEPGPERSDAGDLLRASSPDMHALLEITEESDA
VLVDRSDSD

hide sequence

RefSeq Acc Id:

ENSCLAP00000023994 ⟸ ENSCLAT00000024224

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000016470	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000024224	ENTREZGENE
	ENSCLAT00000024224.1	UniProtKB/TrEMBL
InterPro	Cavin_fam	UniProtKB/TrEMBL
NCBI Gene	Ptrf	ENTREZGENE
PANTHER	PTHR15240	UniProtKB/TrEMBL
	PTHR15240:SF3	UniProtKB/TrEMBL
Pfam	PTRF_SDPR	UniProtKB/TrEMBL
UniProt	A0A8C2W2I2	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-28	Cavin1	caveolae associated protein 1	Ptrf	polymerase I and transcript release factor	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations