C9orf72 (C9orf72-SMCR8 complex subunit) - Rat Genome Database

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Gene: C9orf72 (C9orf72-SMCR8 complex subunit) Pan paniscus
Analyze
Symbol: C9orf72
Name: C9orf72-SMCR8 complex subunit
RGD ID: 11843188
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: C9H9orf72; chromosome 9 C9orf72 homolog; chromosome 9 open reading frame, human C9orf72; guanine nucleotide exchange C9orf72 homolog; guanine nucleotide exchange factor C9orf72 homolog; LOC117981664; uncharacterized LOC117981664
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: Mhudiblu_PPA_v0 - Bonobo Mhudiblu_PPA_v0 Assembly
Position:
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21196,969,169 - 96,996,389 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1996,975,114 - 97,013,601 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0927,395,054 - 27,422,282 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1928,001,498 - 28,026,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl928,001,813 - 28,022,066 (-)Ensemblpanpan1.1panPan2
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
C9orf72
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21196,969,169 - 96,996,389 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1996,975,114 - 97,013,601 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0927,395,054 - 27,422,282 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1928,001,498 - 28,026,192 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl928,001,813 - 28,022,066 (-)Ensemblpanpan1.1panPan2
C9orf72
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38927,546,546 - 27,573,866 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl927,535,640 - 27,573,866 (-)EnsemblGRCh38hg38GRCh38
GRCh37927,546,544 - 27,573,864 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36927,536,544 - 27,563,842 (-)NCBINCBI36Build 36hg18NCBI36
Celera927,474,665 - 27,501,967 (-)NCBICelera
Cytogenetic Map9p21.2NCBI
HuRef927,499,333 - 27,526,665 (-)NCBIHuRef
CHM1_1927,546,336 - 27,573,669 (-)NCBICHM1_1
T2T-CHM13v2.0927,557,112 - 27,584,475 (-)NCBIT2T-CHM13v2.0
C9orf72
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39435,191,285 - 35,226,153 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl435,191,285 - 35,226,175 (-)EnsemblGRCm39 Ensembl
GRCm38435,191,285 - 35,226,153 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl435,191,285 - 35,226,175 (-)EnsemblGRCm38mm10GRCm38
MGSCv37435,138,531 - 35,173,129 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36435,380,169 - 35,415,010 (-)NCBIMGSCv36mm8
Celera434,907,703 - 34,942,307 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map417.13NCBI
RGD1359108
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8554,562,570 - 54,587,649 (-)NCBIGRCr8
mRatBN7.2549,766,340 - 49,791,434 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl549,766,325 - 49,791,408 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx551,959,515 - 51,984,642 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0553,559,771 - 53,584,898 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0553,461,625 - 53,486,752 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0550,666,444 - 50,691,523 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl550,668,040 - 50,684,409 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0555,229,460 - 55,254,965 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4551,839,724 - 51,865,205 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1551,839,902 - 51,865,384 (-)NCBI
Celera548,510,000 - 48,535,299 (-)NCBICelera
Cytogenetic Map5q21NCBI
C9orf72
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554727,310,788 - 7,337,735 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554727,299,092 - 7,337,591 (+)NCBIChiLan1.0ChiLan1.0
C9orf72
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11145,664,942 - 45,688,777 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1145,666,293 - 45,688,780 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1144,341,334 - 44,365,451 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01146,611,075 - 46,635,216 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1146,611,079 - 46,634,080 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11145,266,465 - 45,290,597 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01145,163,231 - 45,187,545 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01145,903,891 - 45,927,956 (-)NCBIUU_Cfam_GSD_1.0
C9orf72
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947160,566,757 - 160,593,838 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366112,078,716 - 2,101,881 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366112,074,655 - 2,101,846 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C9orf72
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1038,389,331 - 38,415,901 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11038,389,366 - 38,415,903 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21043,532,175 - 43,558,682 (+)NCBISscrofa10.2Sscrofa10.2susScr3
C9orf72
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473631,751,268 - 31,788,253 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473631,737,606 - 31,787,900 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSPPAT00000033031   ⟹   ENSPPAP00000010381
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl928,001,813 - 28,022,066 (-)Ensembl
RefSeq Acc Id: ENSPPAT00000033034   ⟹   ENSPPAP00000010384
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
PanPan1.1 Ensembl928,003,187 - 28,022,022 (-)Ensembl
RefSeq Acc Id: XM_034967283   ⟹   XP_034823174
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,545 - 96,996,389 (+)NCBI
NHGRI_mPanPan1996,975,490 - 97,002,334 (+)NCBI
Mhudiblu_PPA_v0927,395,054 - 27,421,893 (-)NCBI
RefSeq Acc Id: XM_034967284   ⟹   XP_034823175
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,169 - 96,996,389 (+)NCBI
NHGRI_mPanPan1996,975,114 - 97,002,334 (+)NCBI
Mhudiblu_PPA_v0927,395,054 - 27,422,282 (-)NCBI
RefSeq Acc Id: XM_034967285   ⟹   XP_034823176
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,548 - 96,996,389 (+)NCBI
NHGRI_mPanPan1996,975,493 - 97,002,334 (+)NCBI
Mhudiblu_PPA_v0927,395,054 - 27,421,893 (-)NCBI
RefSeq Acc Id: XM_034967287   ⟹   XP_034823178
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,548 - 96,996,389 (+)NCBI
NHGRI_mPanPan1996,975,493 - 97,002,334 (+)NCBI
Mhudiblu_PPA_v0927,396,753 - 27,421,893 (-)NCBI
RefSeq Acc Id: XM_055092068   ⟹   XP_054948043
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,210 - 96,996,389 (+)NCBI
NHGRI_mPanPan1996,975,161 - 97,002,334 (+)NCBI
RefSeq Acc Id: XM_063594013   ⟹   XP_063450083
Type: CODING
Position:
Bonobo AssemblyChrPosition (strand)Source
NHGRI_mPanPan1-v21196,969,548 - 96,996,389 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: XP_034823175   ⟸   XM_034967284
- Peptide Label: isoform X1
- UniProtKB: A0A2R9A3T9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_034823176   ⟸   XM_034967285
- Peptide Label: isoform X2
- UniProtKB: A0A2R8ZZG4 (UniProtKB/TrEMBL),   A0A2R9A3T9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_034823174   ⟸   XM_034967283
- Peptide Label: isoform X1
- UniProtKB: A0A2R9A3T9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_034823178   ⟸   XM_034967287
- Peptide Label: isoform X3
- UniProtKB: A0A2R9A3T9 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSPPAP00000010381   ⟸   ENSPPAT00000033031
RefSeq Acc Id: ENSPPAP00000010384   ⟸   ENSPPAT00000033034
RefSeq Acc Id: XP_054948043   ⟸   XM_055092068
- Peptide Label: isoform X3
RefSeq Acc Id: XP_063450083   ⟸   XM_063594013
- Peptide Label: isoform X4


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSPPAG00000028395 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSPPAT00000033031.1 UniProtKB/TrEMBL
  ENSPPAT00000033034.1 UniProtKB/TrEMBL
InterPro C9orf72 UniProtKB/TrEMBL
NCBI Gene C9H9orf72 ENTREZGENE
PANTHER GUANINE NUCLEOTIDE EXCHANGE C9ORF72 UniProtKB/TrEMBL
  PTHR31855 UniProtKB/TrEMBL
Pfam C9orf72-like UniProtKB/TrEMBL
PROSITE DENN_C9ORF72 UniProtKB/TrEMBL
UniProt A0A2R8ZZG4 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R9A3T9 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-04-20 C9orf72  C9orf72-SMCR8 complex subunit  LOC117981664  uncharacterized LOC117981664  Data merged from RGD:32731602 737654 PROVISIONAL
2019-01-15 C9orf72  C9orf72-SMCR8 complex subunit  C9H9orf72  chromosome 9 C9orf72 homolog  Symbol and/or name change 5135510 APPROVED
2018-05-08 C9H9orf72  chromosome 9 C9orf72 homolog    chromosome 9 open reading frame, human C9orf72  Symbol and/or name change 5135510 APPROVED