C9orf72 (C9orf72-SMCR8 complex subunit)

Gene: C9orf72 (C9orf72-SMCR8 complex subunit) Ictidomys tridecemlineatus

Analyze

Symbol:

C9orf72

Name:

C9orf72-SMCR8 complex subunit

RGD ID:

12722645

Description:

ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); INVOLVED IN regulation of synaptic vesicle cycle (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); autism spectrum disorder (ortholog); autoimmune disease (ortholog); FOUND IN Atg1/ULK1 kinase complex (ortholog); dendrite (ortholog); glutamatergic synapse (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

chromosome unknown C9orf72 homolog; chromosome unknown open reading frame, human C9orf72; CUNH9orf72; guanine nucleotide exchange C9orf72 homolog; LOC101974960; protein C9orf72 homolog

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	160,566,757 - 160,593,838 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936611	2,078,716 - 2,101,881 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936611	2,074,655 - 2,101,846 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

amyotrophic lateral sclerosis (ISO)

autism spectrum disorder (ISO)

autoimmune disease (ISO)

eye disease (ISO)

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis (ISO)

frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (ISO)

Frontotemporal Lobar Degeneration (ISO)

juvenile rheumatoid arthritis (ISO)

Nerve Degeneration (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

autophagy (IEA)

axon extension (IEA)

endocytosis (IEA)

late endosome to lysosome transport (IEA)

negative regulation of protein phosphorylation (IEA)

positive regulation of macroautophagy (IEA)

regulation of actin filament organization (IEA)

regulation of autophagosome assembly (IEA)

regulation of autophagy (IEA)

regulation of protein localization (IEA)

regulation of synaptic vesicle cycle (ISO)

regulation of TORC1 signaling (IEA)

stress granule assembly (IEA)

Cellular Component

Atg1/ULK1 kinase complex (IEA,ISO)

autophagosome (IEA)

axonal growth cone (IEA)

cytoplasm (IEA)

cytoplasmic stress granule (IEA)

cytosol (IEA)

dendrite (ISO)

endosome (IEA)

extracellular space (IEA)

Flemming body (IEA)

glutamatergic synapse (ISO)

guanyl-nucleotide exchange factor complex (IEA,ISO)

hippocampal mossy fiber to CA3 synapse (ISO)

intracellular membrane-bounded organelle (IEA)

lysosome (IEA)

main axon (IEA)

neuron projection (IEA)

nuclear membrane (ISO)

nucleus (IEA)

P-body (IEA)

perikaryon (IEA)

postsynapse (IEA,ISO)

presynapse (IEA)

Molecular Function

guanyl-nucleotide exchange factor activity (IEA,ISO)

protein binding (ISO)

small GTPase binding (IEA)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

C9orf72
(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	160,566,757 - 160,593,838 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936611	2,078,716 - 2,101,881 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936611	2,074,655 - 2,101,846 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

C9orf72
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	9	27,546,546 - 27,573,866 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	9	27,535,640 - 27,573,866 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	9	27,546,544 - 27,573,864 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	9	27,536,544 - 27,563,842 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	9	27,474,665 - 27,501,967 (-)	NCBI		Celera
Cytogenetic Map	9	p21.2	NCBI
HuRef	9	27,499,333 - 27,526,665 (-)	NCBI		HuRef
CHM1_1	9	27,546,336 - 27,573,669 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	9	27,557,112 - 27,584,475 (-)	NCBI		T2T-CHM13v2.0

C9orf72
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	35,191,285 - 35,226,153 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	35,191,285 - 35,226,175 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	35,191,285 - 35,226,153 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	35,191,285 - 35,226,175 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	35,138,531 - 35,173,129 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	35,380,169 - 35,415,010 (-)	NCBI		MGSCv36	mm8
Celera	4	34,907,703 - 34,942,307 (-)	NCBI		Celera
Cytogenetic Map	4	A5	NCBI
cM Map	4	17.13	NCBI

RGD1359108
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	54,562,570 - 54,587,649 (-)	NCBI		GRCr8
mRatBN7.2	5	49,766,340 - 49,791,434 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	49,766,325 - 49,791,408 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	51,959,515 - 51,984,642 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	53,559,771 - 53,584,898 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	53,461,625 - 53,486,752 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	50,666,444 - 50,691,523 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	50,668,040 - 50,684,409 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	55,229,460 - 55,254,965 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	51,839,724 - 51,865,205 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	51,839,902 - 51,865,384 (-)	NCBI
Celera	5	48,510,000 - 48,535,299 (-)	NCBI		Celera
Cytogenetic Map	5	q21	NCBI

C9orf72
(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_004955472	7,310,788 - 7,337,735 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955472	7,299,092 - 7,337,591 (+)	NCBI	ChiLan1.0	ChiLan1.0

C9orf72
(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	96,969,169 - 96,996,389 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	9	96,975,114 - 97,013,601 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	9	27,395,054 - 27,422,282 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	9	28,001,498 - 28,026,192 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	9	28,001,813 - 28,022,066 (-)	Ensembl	panpan1.1		panPan2

C9orf72
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	11	45,664,942 - 45,688,777 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	11	45,666,293 - 45,688,780 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	11	44,341,334 - 44,365,451 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	11	46,611,075 - 46,635,216 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	11	46,611,079 - 46,634,080 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	11	45,266,465 - 45,290,597 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	11	45,163,231 - 45,187,545 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	11	45,903,891 - 45,927,956 (-)	NCBI		UU_Cfam_GSD_1.0

C9orf72
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	38,389,331 - 38,415,901 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	38,389,366 - 38,415,903 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	43,532,175 - 43,558,682 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

C9orf72
(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_004624736	31,751,268 - 31,788,253 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624736	31,737,606 - 31,787,900 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005334183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_013362346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_021732347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_040285909	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000010691 ⟹ ENSSTOP00000009597

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936611	2,078,716 - 2,101,881 (+)	Ensembl

RefSeq Acc Id:

ENSSTOT00000038079 ⟹ ENSSTOP00000032042

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936611	2,078,716 - 2,101,881 (+)	Ensembl

RefSeq Acc Id:

XM_005334183 ⟹ XP_005334240

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404947	160,566,757 - 160,593,543 (-)	NCBI
SpeTri2.0	NW_004936611	2,074,888 - 2,101,846 (+)	NCBI

Sequence:

show sequence

CGGCGGTGGCGGAGGTTCTGGCGGCGGCGGCGGAGGTTCTGGCGGCGGCGAGTGGAAAATTGGA
ACTTGGAAGATCTTCAACCATCAAAGTAGTCTCCTGCTAACATCTAACATCAATGTTGTCATGA
TTCAATGATCCAGGATCACCTGAAGTGGATGTCTTCTTCCTGATGTATCATCAGAAGGTCATTA
GTAGCCTAAAGCTGCGTCACAGCACATGTCATTCACTCCACTTTATCACATATTCATTGTATTA
TCTCCCATTATCATAGGAAGAAGAAGATATCTCTGGAACATTTGGATAATGTGAAATTTGGGAT
GCAGTGATGTCGACTCTCTGCCCACCACCATCTCCTGCTGTTGCCAAGACAGAGATTGCTTTAA
GTGGTGAATCACCTTTATTAGCAGCTACCTTTGCTTACTGGGACAATATTCTTGGTCCTAGAGT
AAGGCATATTTGGGCCCCTAAGACAGATCAGGTACTTCTCAGTGATGGAGAAATAACTTTTCTT
GCCAACCACACCCTAAATGGAGAAATTCTTCGAAATGCAGAGAGTGGGGCTATAGATGTAAAGT
TTTTTGTCTTGTCTGAAAAAGGAGTAATTATTGTTTCATTAATCTTCGATGGAAACTGGAATGG
AGATCGGAGTACTTATGGACTATCAATTATACTTCCACAGACGGAGCTTAGTTTCTATCTCCCA
CTTCACAGAGTGTGTGTTGATAGATTAACACATATTATTCGGAAAGGACGGATATGGATGCATA
AGGAAAGGCAAGAAAATGTCCAGAAGATTGTCTTAGAAGGCACAGAGAGAATGGAAGATCAGGG
TCAAAGTATTATTCCAATGCTTACTGGAGAAGTCATTCCTGTAATGGAACTGCTTTCATCTATG
AAATCTCACAGTGTTCCTGAAGAAATAGATATAGCTGATACGGTACTCAATGATGATGATATTG
GTGACAGTTGTCATGAAGGCTTTCTTCTCAATGCCATCAGCTCACACTTGCAAACCTGTGGCTG
CTCTGTTGTAGTAGGCAGCAGTGCAGAGAAAGTAAATAAGATAGTGAGAACATTATGCCTTTTT
CTGACTCCAGCAGAGAGAAAATGCTCCAGATTATGTGAAGCAGAATCATCATTTAAATATGAGT
CAGGACTCTTTGTGCAAGGCCTGCTAAAGGATTCAACTGGAAGCTTTGTACTGCCCTTCCGTCA
AGTCATGTATGCACCATATCCCACCACACATATCGATGTGGATGTCAATACTGTGAAGCAGATG
CCACCCTGTCATGAACACATTTATAATCAGCGTAGATACATGAGATCGGAGCTGACAGCATTTT
GGAGAGCCACTTCAGAAGAAGACATGGCACAGGACACCATCATCTACACAGATGAGAGCTTCAC
TCCTGATTTGAATATTTTCCAGGATGTCTTACACAGAGACACTCTAGTCAAAGCCTTCCTGGAT
CAGGTCTTTCATTTGAAACCTGGTTTATCTCTCAGGAGTACTTTCCTTGCACAGTTTCTGCTTG
TCCTTCACAGAAAAGCCTTGACACTAATAAAATACATAGAAGATGATACGCAGAAGGGGAAAAA
GCCCTTTAAATCTCTTCGAAATCTGAAGATAGACCTTGAATTAACAGCAGAGGGCGATCTTAAC
ATAATAATGGCTCTAGCAGAGAAAATCAAACCAGGCCTACATTCTTTTATCTTTGGAAGACCTT
TCTACACAAGTGTACAAGAACGAGATGTCCTAATGACTTTTTAAACGTGGAATTTATTAAGTAT
ATTTCATCACAGTCACTATTGCTATTGAAATAGTTCCATGGTGTGGGAAGCATCATTCCCCAAA
ATTATGCCCCTAGAGTCCTACTCAGCATTGCAGTTAAAGTTAGTTACACTACAGTTGCCACAAG
AGGTCTGTAGGGGATGTCAGGTGCATCGTTAACATTGAATATATCTCTTTCTAGATGTGCTCTC
TTGGGGACTTCTGTTTACAATTATAACAAATACTATTGCTGTCTTTTAAAGATATATTAATAGT
ATATAAATTTGACCACAACTACTGTTTTTTTTTTAATTTATGATTCATGGTTTACATGTATCAA
AGTGAAATCTGAGTTAGCTTCTGCAAATATCATAGTAATTGACTTGACATTTTTTGGTGTTTCT
TGGTATGTAGGATTACTGTAAGACTTTTGCAATCATCTGCAAATTTAGAGCATTTAAAATTTTC
AGTTCCACAGAAAAGAAGTTAGCTTGAATAGGAAGAAGAGATTGATCAATAATTCAATAATTAT
TGAAATTTAATCATTAGATCCTACTTTGTAGATTTAGTCTTTAGAATTCAGTCTATATAAAAAT
GTCAGGCAGTTATTTGCAGTCCCTGATTATGGTAAACTCAGTGTGGTTTTTGTTTATCATTGTT
GTCAACATCCAATATGGTTAAGCTCTGTCCAGGAAAATATAGGAAATTGAATTGTTTTAGTAGT
TGTTGCCAACTTTTCAGATTAATTTTTATTATTTTCAAGCCAAATAGAAATGTGCACCTCCTGC
GCCTTCCCCACCCCCCCATGGAAAGTATAATTACTTGGAAGAAGTTCGGATTCCACTAGTCAGT
CCTTTCCACTTATTTTTCTCATACAGAATCTATCATTTACCTGGTTTGGCAGTCATGGTGATCC
AAGTTTATAAAATGCATTAGAGAATACACTAACTAATAAGATCTTTTGAGAACAGAAAACAGTT
TTTGGTCTTCTTCCACCTTTTATTTCTGCCCATGTAATGGAAGTTATTGCCTTGCTGCCTGCAT
CACATAAGAGCAGCAGGAGAAACTTAACGGAAGTGATATTTTTTTAGGTGCTATTTTTGTCAGA
ACTAAGTGGTCTGTTTCTTTACTTTCCTTAATGTGTTTGGACCATTTTACTGGCTAAAAAATAA
TTAACATAATTCTCTGCTAGAGAAGTGTTGACATAGGAGCATATCAAACACAGATATTTTTATT
TAAAACTGGAAGTGACATGAAAGGGAAAATATAAGTAGATGAAAGATATAAAATTGATAGAGCC
CTTCTGCTCCCATCTACAAAATTTAATGAAAAAGATATGTTCTATTCTGAAAGGTCATAATAGC
TTTTGCATAATGAGTCAGAAAGAGGTAGACATCTTAAACACTGAACAAGATGGATATACTACGT
GTAGCTCAGTCAAGAAAAATTTTGTAGATACCATCTTTTAGTGTCCTGTATGTGCTCAATGCTT
TTATATGGTAGATCCCTATTTAAGAGCTGACTTATTTTCTTTTGTTGGTTTATTGTATTGTTGT
ATAGAACATAAGATGTACAGTGAAATAAGTTATTAAAGCATGTGTAAACATTGTTACCTTTTCT
CCTAGTTGGAGAATTTTGAATAAAATTCTTTGAAATTTTGTCTCTTTCATTTATTGTTCAGGAA
AAAACACTATTATGATATTGGAAGATTGATTAGCTTCTGATTTGGCTGACAGTCATGTTGGATC
TAAACTATCTTTTTTTAATTTTCTATCTTCAAAGAAAATATATTTAAAGGTACTGTATGATGCA
GCACTCTTATGTTTAAAAAATAAAATAGTGTTTTGTTT

hide sequence

RefSeq Acc Id:

XM_013362346 ⟹ XP_013217800

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404947	160,566,757 - 160,593,558 (-)	NCBI
SpeTri2.0	NW_004936611	2,074,869 - 2,101,846 (+)	NCBI

Sequence:

show sequence

GTTGCGGTCCCAGCGCCCGCGGCGGTGGCGGAGGTTCTGGCGGCGGCGGCGGAGGTTCTGGCGG
CGGCGAGTGGATATCTCTGGAACATTTGGATAATGTGAAATTTGGGATGCAGTGATGTCGACTC
TCTGCCCACCACCATCTCCTGCTGTTGCCAAGACAGAGATTGCTTTAAGTGGTGAATCACCTTT
ATTAGCAGCTACCTTTGCTTACTGGGACAATATTCTTGGTCCTAGAGTAAGGCATATTTGGGCC
CCTAAGACAGATCAGGTACTTCTCAGTGATGGAGAAATAACTTTTCTTGCCAACCACACCCTAA
ATGGAGAAATTCTTCGAAATGCAGAGAGTGGGGCTATAGATGTAAAGTTTTTTGTCTTGTCTGA
AAAAGGAGTAATTATTGTTTCATTAATCTTCGATGGAAACTGGAATGGAGATCGGAGTACTTAT
GGACTATCAATTATACTTCCACAGACGGAGCTTAGTTTCTATCTCCCACTTCACAGAGTGTGTG
TTGATAGATTAACACATATTATTCGGAAAGGACGGATATGGATGCATAAGGAAAGGCAAGAAAA
TGTCCAGAAGATTGTCTTAGAAGGCACAGAGAGAATGGAAGATCAGGGTCAAAGTATTATTCCA
ATGCTTACTGGAGAAGTCATTCCTGTAATGGAACTGCTTTCATCTATGAAATCTCACAGTGTTC
CTGAAGAAATAGATATAGCTGATACGGTACTCAATGATGATGATATTGGTGACAGTTGTCATGA
AGGCTTTCTTCTCAATGCCATCAGCTCACACTTGCAAACCTGTGGCTGCTCTGTTGTAGTAGGC
AGCAGTGCAGAGAAAGTAAATAAGATAGTGAGAACATTATGCCTTTTTCTGACTCCAGCAGAGA
GAAAATGCTCCAGATTATGTGAAGCAGAATCATCATTTAAATATGAGTCAGGACTCTTTGTGCA
AGGCCTGCTAAAGGATTCAACTGGAAGCTTTGTACTGCCCTTCCGTCAAGTCATGTATGCACCA
TATCCCACCACACATATCGATGTGGATGTCAATACTGTGAAGCAGATGCCACCCTGTCATGAAC
ACATTTATAATCAGCGTAGATACATGAGATCGGAGCTGACAGCATTTTGGAGAGCCACTTCAGA
AGAAGACATGGCACAGGACACCATCATCTACACAGATGAGAGCTTCACTCCTGATTTGAATATT
TTCCAGGATGTCTTACACAGAGACACTCTAGTCAAAGCCTTCCTGGATCAGGTCTTTCATTTGA
AACCTGGTTTATCTCTCAGGAGTACTTTCCTTGCACAGTTTCTGCTTGTCCTTCACAGAAAAGC
CTTGACACTAATAAAATACATAGAAGATGATACGCAGAAGGGGAAAAAGCCCTTTAAATCTCTT
CGAAATCTGAAGATAGACCTTGAATTAACAGCAGAGGGCGATCTTAACATAATAATGGCTCTAG
CAGAGAAAATCAAACCAGGCCTACATTCTTTTATCTTTGGAAGACCTTTCTACACAAGTGTACA
AGAACGAGATGTCCTAATGACTTTTTAAACGTGGAATTTATTAAGTATATTTCATCACAGTCAC
TATTGCTATTGAAATAGTTCCATGGTGTGGGAAGCATCATTCCCCAAAATTATGCCCCTAGAGT
CCTACTCAGCATTGCAGTTAAAGTTAGTTACACTACAGTTGCCACAAGAGGTCTGTAGGGGATG
TCAGGTGCATCGTTAACATTGAATATATCTCTTTCTAGATGTGCTCTCTTGGGGACTTCTGTTT
ACAATTATAACAAATACTATTGCTGTCTTTTAAAGATATATTAATAGTATATAAATTTGACCAC
AACTACTGTTTTTTTTTTAATTTATGATTCATGGTTTACATGTATCAAAGTGAAATCTGAGTTA
GCTTCTGCAAATATCATAGTAATTGACTTGACATTTTTTGGTGTTTCTTGGTATGTAGGATTAC
TGTAAGACTTTTGCAATCATCTGCAAATTTAGAGCATTTAAAATTTTCAGTTCCACAGAAAAGA
AGTTAGCTTGAATAGGAAGAAGAGATTGATCAATAATTCAATAATTATTGAAATTTAATCATTA
GATCCTACTTTGTAGATTTAGTCTTTAGAATTCAGTCTATATAAAAATGTCAGGCAGTTATTTG
CAGTCCCTGATTATGGTAAACTCAGTGTGGTTTTTGTTTATCATTGTTGTCAACATCCAATATG
GTTAAGCTCTGTCCAGGAAAATATAGGAAATTGAATTGTTTTAGTAGTTGTTGCCAACTTTTCA
GATTAATTTTTATTATTTTCAAGCCAAATAGAAATGTGCACCTCCTGCGCCTTCCCCACCCCCC
CATGGAAAGTATAATTACTTGGAAGAAGTTCGGATTCCACTAGTCAGTCCTTTCCACTTATTTT
TCTCATACAGAATCTATCATTTACCTGGTTTGGCAGTCATGGTGATCCAAGTTTATAAAATGCA
TTAGAGAATACACTAACTAATAAGATCTTTTGAGAACAGAAAACAGTTTTTGGTCTTCTTCCAC
CTTTTATTTCTGCCCATGTAATGGAAGTTATTGCCTTGCTGCCTGCATCACATAAGAGCAGCAG
GAGAAACTTAACGGAAGTGATATTTTTTTAGGTGCTATTTTTGTCAGAACTAAGTGGTCTGTTT
CTTTACTTTCCTTAATGTGTTTGGACCATTTTACTGGCTAAAAAATAATTAACATAATTCTCTG
CTAGAGAAGTGTTGACATAGGAGCATATCAAACACAGATATTTTTATTTAAAACTGGAAGTGAC
ATGAAAGGGAAAATATAAGTAGATGAAAGATATAAAATTGATAGAGCCCTTCTGCTCCCATCTA
CAAAATTTAATGAAAAAGATATGTTCTATTCTGAAAGGTCATAATAGCTTTTGCATAATGAGTC
AGAAAGAGGTAGACATCTTAAACACTGAACAAGATGGATATACTACGTGTAGCTCAGTCAAGAA
AAATTTTGTAGATACCATCTTTTAGTGTCCTGTATGTGCTCAATGCTTTTATATGGTAGATCCC
TATTTAAGAGCTGACTTATTTTCTTTTGTTGGTTTATTGTATTGTTGTATAGAACATAAGATGT
ACAGTGAAATAAGTTATTAAAGCATGTGTAAACATTGTTACCTTTTCTCCTAGTTGGAGAATTT
TGAATAAAATTCTTTGAAATTTTGTCTCTTTCATTTATTGTTCAGGAAAAAACACTATTATGAT
ATTGGAAGATTGATTAGCTTCTGATTTGGCTGACAGTCATGTTGGATCTAAACTATCTTTTTTT
AATTTTCTATCTTCAAAGAAAATATATTTAAAGGTACTGTATGATGCAGCACTCTTATGTTTAA
AAAATAAAATAGTGTTTTGTTT

hide sequence

RefSeq Acc Id:

XM_021732347 ⟹ XP_021588022

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404947	160,566,757 - 160,593,838 (-)	NCBI
SpeTri2.0	NW_004936611	2,074,655 - 2,101,846 (+)	NCBI

Sequence:

show sequence

GGGGCGGGTCTAACTAGAGCAGATATCTCTGGAACATTTGGATAATGTGAAATTTGGGATGCAG
TGATGTCGACTCTCTGCCCACCACCATCTCCTGCTGTTGCCAAGACAGAGATTGCTTTAAGTGG
TGAATCACCTTTATTAGCAGCTACCTTTGCTTACTGGGACAATATTCTTGGTCCTAGAGTAAGG
CATATTTGGGCCCCTAAGACAGATCAGGTACTTCTCAGTGATGGAGAAATAACTTTTCTTGCCA
ACCACACCCTAAATGGAGAAATTCTTCGAAATGCAGAGAGTGGGGCTATAGATGTAAAGTTTTT
TGTCTTGTCTGAAAAAGGAGTAATTATTGTTTCATTAATCTTCGATGGAAACTGGAATGGAGAT
CGGAGTACTTATGGACTATCAATTATACTTCCACAGACGGAGCTTAGTTTCTATCTCCCACTTC
ACAGAGTGTGTGTTGATAGATTAACACATATTATTCGGAAAGGACGGATATGGATGCATAAGGA
AAGGCAAGAAAATGTCCAGAAGATTGTCTTAGAAGGCACAGAGAGAATGGAAGATCAGGGTCAA
AGTATTATTCCAATGCTTACTGGAGAAGTCATTCCTGTAATGGAACTGCTTTCATCTATGAAAT
CTCACAGTGTTCCTGAAGAAATAGATATAGCTGATACGGTACTCAATGATGATGATATTGGTGA
CAGTTGTCATGAAGGCTTTCTTCTCAATGCCATCAGCTCACACTTGCAAACCTGTGGCTGCTCT
GTTGTAGTAGGCAGCAGTGCAGAGAAAGTAAATAAGATAGTGAGAACATTATGCCTTTTTCTGA
CTCCAGCAGAGAGAAAATGCTCCAGATTATGTGAAGCAGAATCATCATTTAAATATGAGTCAGG
ACTCTTTGTGCAAGGCCTGCTAAAGGATTCAACTGGAAGCTTTGTACTGCCCTTCCGTCAAGTC
ATGTATGCACCATATCCCACCACACATATCGATGTGGATGTCAATACTGTGAAGCAGATGCCAC
CCTGTCATGAACACATTTATAATCAGCGTAGATACATGAGATCGGAGCTGACAGCATTTTGGAG
AGCCACTTCAGAAGAAGACATGGCACAGGACACCATCATCTACACAGATGAGAGCTTCACTCCT
GATTTGAATATTTTCCAGGATGTCTTACACAGAGACACTCTAGTCAAAGCCTTCCTGGATCAGG
TCTTTCATTTGAAACCTGGTTTATCTCTCAGGAGTACTTTCCTTGCACAGTTTCTGCTTGTCCT
TCACAGAAAAGCCTTGACACTAATAAAATACATAGAAGATGATACGCAGAAGGGGAAAAAGCCC
TTTAAATCTCTTCGAAATCTGAAGATAGACCTTGAATTAACAGCAGAGGGCGATCTTAACATAA
TAATGGCTCTAGCAGAGAAAATCAAACCAGGCCTACATTCTTTTATCTTTGGAAGACCTTTCTA
CACAAGTGTACAAGAACGAGATGTCCTAATGACTTTTTAAACGTGGAATTTATTAAGTATATTT
CATCACAGTCACTATTGCTATTGAAATAGTTCCATGGTGTGGGAAGCATCATTCCCCAAAATTA
TGCCCCTAGAGTCCTACTCAGCATTGCAGTTAAAGTTAGTTACACTACAGTTGCCACAAGAGGT
CTGTAGGGGATGTCAGGTGCATCGTTAACATTGAATATATCTCTTTCTAGATGTGCTCTCTTGG
GGACTTCTGTTTACAATTATAACAAATACTATTGCTGTCTTTTAAAGATATATTAATAGTATAT
AAATTTGACCACAACTACTGTTTTTTTTTTAATTTATGATTCATGGTTTACATGTATCAAAGTG
AAATCTGAGTTAGCTTCTGCAAATATCATAGTAATTGACTTGACATTTTTTGGTGTTTCTTGGT
ATGTAGGATTACTGTAAGACTTTTGCAATCATCTGCAAATTTAGAGCATTTAAAATTTTCAGTT
CCACAGAAAAGAAGTTAGCTTGAATAGGAAGAAGAGATTGATCAATAATTCAATAATTATTGAA
ATTTAATCATTAGATCCTACTTTGTAGATTTAGTCTTTAGAATTCAGTCTATATAAAAATGTCA
GGCAGTTATTTGCAGTCCCTGATTATGGTAAACTCAGTGTGGTTTTTGTTTATCATTGTTGTCA
ACATCCAATATGGTTAAGCTCTGTCCAGGAAAATATAGGAAATTGAATTGTTTTAGTAGTTGTT
GCCAACTTTTCAGATTAATTTTTATTATTTTCAAGCCAAATAGAAATGTGCACCTCCTGCGCCT
TCCCCACCCCCCCATGGAAAGTATAATTACTTGGAAGAAGTTCGGATTCCACTAGTCAGTCCTT
TCCACTTATTTTTCTCATACAGAATCTATCATTTACCTGGTTTGGCAGTCATGGTGATCCAAGT
TTATAAAATGCATTAGAGAATACACTAACTAATAAGATCTTTTGAGAACAGAAAACAGTTTTTG
GTCTTCTTCCACCTTTTATTTCTGCCCATGTAATGGAAGTTATTGCCTTGCTGCCTGCATCACA
TAAGAGCAGCAGGAGAAACTTAACGGAAGTGATATTTTTTTAGGTGCTATTTTTGTCAGAACTA
AGTGGTCTGTTTCTTTACTTTCCTTAATGTGTTTGGACCATTTTACTGGCTAAAAAATAATTAA
CATAATTCTCTGCTAGAGAAGTGTTGACATAGGAGCATATCAAACACAGATATTTTTATTTAAA
ACTGGAAGTGACATGAAAGGGAAAATATAAGTAGATGAAAGATATAAAATTGATAGAGCCCTTC
TGCTCCCATCTACAAAATTTAATGAAAAAGATATGTTCTATTCTGAAAGGTCATAATAGCTTTT
GCATAATGAGTCAGAAAGAGGTAGACATCTTAAACACTGAACAAGATGGATATACTACGTGTAG
CTCAGTCAAGAAAAATTTTGTAGATACCATCTTTTAGTGTCCTGTATGTGCTCAATGCTTTTAT
ATGGTAGATCCCTATTTAAGAGCTGACTTATTTTCTTTTGTTGGTTTATTGTATTGTTGTATAG
AACATAAGATGTACAGTGAAATAAGTTATTAAAGCATGTGTAAACATTGTTACCTTTTCTCCTA
GTTGGAGAATTTTGAATAAAATTCTTTGAAATTTTGTCTCTTTCATTTATTGTTCAGGAAAAAA
CACTATTATGATATTGGAAGATTGATTAGCTTCTGATTTGGCTGACAGTCATGTTGGATCTAAA
CTATCTTTTTTTAATTTTCTATCTTCAAAGAAAATATATTTAAAGGTACTGTATGATGCAGCAC
TCTTATGTTTAAAAAATAAAATAGTGTTTTGTTT

hide sequence

RefSeq Acc Id:

XM_040285909 ⟹ XP_040141843

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404947	160,566,757 - 160,593,620 (-)	NCBI

Protein Sequences


Protein RefSeqs	XP_005334240	(Get FASTA)	NCBI Sequence Viewer
	XP_013217800	(Get FASTA)	NCBI Sequence Viewer
	XP_021588022	(Get FASTA)	NCBI Sequence Viewer
	XP_040141843	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000009597.2
	ENSSTOP00000032042.1
GenBank Protein	KAG3287355	(Get FASTA)	NCBI Sequence Viewer
	KAG3287356	(Get FASTA)	NCBI Sequence Viewer
	KAG3287357	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_013217800 ⟸ XM_013362346

- UniProtKB:

I3MFZ1 (UniProtKB/TrEMBL), A0A287DES1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSTLCPPPSPAVAKTEIALSGESPLLAATFAYWDNILGPRVRHIWAPKTDQVLLSDGEITFLAN
HTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLH
RVCVDRLTHIIRKGRIWMHKERQENVQKIVLEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKS
HSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLT
PAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPP
CHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQV
FHLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLELTAEGDLNII
MALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF

hide sequence

RefSeq Acc Id:

XP_005334240 ⟸ XM_005334183

- UniProtKB:

I3MFZ1 (UniProtKB/TrEMBL), A0A287DES1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSTLCPPPSPAVAKTEIALSGESPLLAATFAYWDNILGPRVRHIWAPKTDQVLLSDGEITFLAN
HTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLH
RVCVDRLTHIIRKGRIWMHKERQENVQKIVLEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKS
HSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLT
PAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPP
CHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQV
FHLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLELTAEGDLNII
MALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF

hide sequence

RefSeq Acc Id:

XP_021588022 ⟸ XM_021732347

- UniProtKB:

I3MFZ1 (UniProtKB/TrEMBL), A0A287DES1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSTLCPPPSPAVAKTEIALSGESPLLAATFAYWDNILGPRVRHIWAPKTDQVLLSDGEITFLAN
HTLNGEILRNAESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLH
RVCVDRLTHIIRKGRIWMHKERQENVQKIVLEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKS
HSVPEEIDIADTVLNDDDIGDSCHEGFLLNAISSHLQTCGCSVVVGSSAEKVNKIVRTLCLFLT
PAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMYAPYPTTHIDVDVNTVKQMPP
CHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDTLVKAFLDQV
FHLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLELTAEGDLNII
MALAEKIKPGLHSFIFGRPFYTSVQERDVLMTF

hide sequence

RefSeq Acc Id:	XP_040141843 ⟸ XM_040285909
- UniProtKB:	I3MFZ1 (UniProtKB/TrEMBL), A0A287DES1 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSSTOP00000032042 ⟸ ENSSTOT00000038079

RefSeq Acc Id:

ENSSTOP00000009597 ⟸ ENSSTOT00000010691

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000010692	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000010691.3	UniProtKB/TrEMBL
	ENSSTOT00000038079.1	UniProtKB/TrEMBL
InterPro	C9orf72	UniProtKB/TrEMBL
NCBI Gene	LOC101974960	ENTREZGENE
PANTHER	GUANINE NUCLEOTIDE EXCHANGE C9ORF72	UniProtKB/TrEMBL
	PTHR31855	UniProtKB/TrEMBL
Pfam	C9orf72-like	UniProtKB/TrEMBL
PROSITE	DENN_C9ORF72	UniProtKB/TrEMBL
UniProt	A0A287DES1	ENTREZGENE, UniProtKB/TrEMBL
	I3MFZ1	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-15	C9orf72	C9orf72-SMCR8 complex subunit	CUNH9orf72	chromosome unknown C9orf72 homolog	Symbol and/or name change	5135510	APPROVED
2017-07-13	CUNH9orf72	chromosome unknown C9orf72 homolog	LOC101974960	chromosome unknown open reading frame, human C9orf72	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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