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

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Gene: C9orf72 (C9orf72-SMCR8 complex subunit) Chinchilla lanigera
Analyze
Symbol: C9orf72
Name: C9orf72-SMCR8 complex subunit
RGD ID: 8893185
Description: ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); small GTPase binding (ortholog); INVOLVED IN autophagy (ortholog); axon extension (ortholog); endocytosis (ortholog); ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); autism spectrum disorder (ortholog); autoimmune disease (ortholog); FOUND IN Atg1/ULK1 kinase complex (ortholog); autophagosome (ortholog); axonal growth cone (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: chromosome unknown open reading frame, human C9orf72; LOC102018919
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
(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: ENSCLAT00000002628   ⟹   ENSCLAP00000002575
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_0049554727,310,788 - 7,337,735 (+)Ensembl
RefSeq Acc Id: XM_005401124   ⟹   XP_005401181
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554727,310,788 - 7,337,591 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005401125   ⟹   XP_005401182
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554727,312,837 - 7,335,786 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005401126   ⟹   XP_005401183
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554727,312,840 - 7,337,591 (+)NCBI
Sequence:
RefSeq Acc Id: XM_013522996   ⟹   XP_013378450
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554727,299,092 - 7,337,591 (+)NCBI
Sequence:
RefSeq Acc Id: XM_013522997   ⟹   XP_013378451
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_0049554727,312,840 - 7,337,591 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: XP_005401181   ⟸   XM_005401124
- Peptide Label: isoform X1
- UniProtKB: A0A8C2ULC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005401182   ⟸   XM_005401125
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005401183   ⟸   XM_005401126
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_013378450   ⟸   XM_013522996
- Peptide Label: isoform X1
- UniProtKB: A0A8C2ULC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_013378451   ⟸   XM_013522997
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSCLAP00000002575   ⟸   ENSCLAT00000002628


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000001862 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000002628 ENTREZGENE
  ENSCLAT00000002628.1 UniProtKB/TrEMBL
InterPro C9orf72 UniProtKB/TrEMBL
NCBI Gene LOC102018919 ENTREZGENE
PANTHER GUANINE NUCLEOTIDE EXCHANGE C9ORF72 UniProtKB/TrEMBL
  PTHR31855 UniProtKB/TrEMBL
Pfam C9orf72-like UniProtKB/TrEMBL
PROSITE DENN_C9ORF72 UniProtKB/TrEMBL
UniProt A0A8C2ULC5 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  LOC102018919  chromosome unknown open reading frame, human C9orf72  Symbol and/or name change 5135510 APPROVED