Smcr8 (SMCR8-C9orf72 complex subunit) - Rat Genome Database

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Gene: Smcr8 (SMCR8-C9orf72 complex subunit) Chinchilla lanigera
Analyze
Symbol: Smcr8
Name: SMCR8-C9orf72 complex subunit
RGD ID: 8962845
Description: ENCODES a protein that exhibits guanyl-nucleotide exchange factor activity (ortholog); protein kinase binding (ortholog); protein kinase inhibitor activity (ortholog); INVOLVED IN negative regulation of autophagosome assembly (ortholog); negative regulation of gene expression (ortholog); negative regulation of macroautophagy (ortholog); ASSOCIATED WITH autistic disorder (ortholog); common variable immunodeficiency 2 (ortholog); Joubert syndrome 1 (ortholog); FOUND IN Atg1/ULK1 kinase complex (ortholog); chromatin (ortholog); cytoplasm (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: Smith-Magenis syndrome chromosome region, candidate 8
RGD Orthologs
Human
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: ChiLan1.0 - Chinchilla ChiLan1.0 Assembly
Position:
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,002,174 - 11,015,123 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,002,174 - 11,015,123 (-)NCBIChiLan1.0ChiLan1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Transitive Annotation Pipeline Automated assignment of GO, PW and RDO ISO annotations across species
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
Smcr8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,002,174 - 11,015,123 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,002,174 - 11,015,123 (-)NCBIChiLan1.0ChiLan1.0
SMCR8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,315,293 - 18,328,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,315,293 - 18,328,056 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,218,607 - 18,231,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,159,319 - 18,172,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341718,159,440 - 18,167,109NCBI
Celera1719,159,665 - 19,172,441 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,972,126 - 17,984,902 (+)NCBIHuRef
CHM1_11718,227,353 - 18,240,129 (+)NCBICHM1_1
T2T-CHM13v2.01718,262,099 - 18,274,862 (+)NCBIT2T-CHM13v2.0
Smcr8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,668,351 - 60,679,113 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,668,350 - 60,679,113 (+)EnsemblGRCm39 Ensembl
GRCm381160,777,525 - 60,788,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,777,524 - 60,788,287 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,591,027 - 60,601,789 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,593,737 - 60,597,262 (+)NCBIMGSCv36mm8
MGSCv361161,208,627 - 61,212,152 (+)NCBIMGSCv36mm8
Cytogenetic Map11B2NCBI
cM Map1137.83NCBI
Smcr8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81045,957,146 - 45,968,388 (+)NCBIGRCr8
mRatBN7.21045,457,962 - 45,465,101 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,457,605 - 45,468,876 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1050,159,207 - 50,166,360 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01049,649,603 - 49,656,756 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01045,153,192 - 45,160,345 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01047,019,326 - 47,026,465 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1047,018,974 - 47,026,465 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,791,502 - 46,798,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,924,224 - 46,931,363 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1044,712,528 - 44,719,666 (+)NCBICelera
Cytogenetic Map10q22NCBI
SMCR8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21952,939,905 - 52,952,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11757,651,042 - 57,663,823 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01732,858,205 - 32,871,132 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11737,884,037 - 37,897,031 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1737,884,037 - 37,896,972 (-)Ensemblpanpan1.1panPan2
SMCR8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.0541,356,732 - 41,369,920 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl541,361,422 - 41,369,287 (-)EnsemblROS_Cfam_1.0 Ensembl
Smcr8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560261,018,506 - 61,028,302 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367411,838,834 - 1,844,459 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367411,838,974 - 1,848,742 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMCR8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,435,273 - 60,443,520 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,435,276 - 60,443,525 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SMCR8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,358,952 - 17,367,323 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1617,359,577 - 17,366,851 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660593,537,962 - 3,546,697 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smcr8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,149,121 - 3,159,273 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,147,251 - 3,159,358 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSCLAT00000021468   ⟹   ENSCLAP00000021266
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0 EnsemblNW_00495547811,002,174 - 11,015,123 (-)Ensembl
RefSeq Acc Id: XM_005402280   ⟹   XP_005402337
Type: CODING
Position:
Chinchilla AssemblyChrPosition (strand)Source
ChiLan1.0NW_00495547811,002,174 - 11,015,123 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs XP_005402337 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCLAP00000021266
  ENSCLAP00000021266.1
Reference Protein Sequences
RefSeq Acc Id: XP_005402337   ⟸   XM_005402280
- UniProtKB: A0A8C2VVH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCLAP00000021266   ⟸   ENSCLAT00000021468
Protein Domains
uDENN FLCN/SMCR8-type


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCLAG00000014564 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCLAT00000021468 ENTREZGENE
  ENSCLAT00000021468.1 UniProtKB/TrEMBL
InterPro FLCN/SMCR8_DENN UniProtKB/TrEMBL
  Folliculin/SMCR8_longin UniProtKB/TrEMBL
NCBI Gene Smcr8 ENTREZGENE
PANTHER GUANINE NUCLEOTIDE EXCHANGE PROTEIN SMCR8 UniProtKB/TrEMBL
  SMITH-MAGENIS SYNDROME REGION GENE 8 PROTEIN UniProtKB/TrEMBL
Pfam Folliculin UniProtKB/TrEMBL
PROSITE DENN_FLCN_SMCR8 UniProtKB/TrEMBL
UniProt A0A8C2VVH0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 Smcr8  SMCR8-C9orf72 complex subunit    Smith-Magenis syndrome chromosome region, candidate 8  Symbol and/or name change 5135510 APPROVED