SPDYE8 (speedy/RINGO cell cycle regulator family member E8) - Rat Genome Database

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Gene: SPDYE8 (speedy/RINGO cell cycle regulator family member E8) Homo sapiens
Analyze
No known orthologs.
Symbol: SPDYE8
Name: speedy/RINGO cell cycle regulator family member E8
RGD ID: 2303884
HGNC Page HGNC:33771
Description: Enables acetylcholine receptor regulator activity; INTERACTS WITH all-trans-retinoic acid; butan-1-ol; butanal.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical LOC441257; LOC441257; MGC131642; MGC48646; putative speedy protein E8; SPDYE8P; SPDYE9; speedy homolog E pseudogene; speedy homolog E8, pseudogene; speedy/RINGO cell cycle regulator family member E1 pseudogene; speedy/RINGO cell cycle regulator family member E8, pseudogene; Williams Beuren syndrome chromosome region 19 pseudogene
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38773,019,719 - 73,029,766 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl773,019,719 - 73,029,766 (-)EnsemblGRCh38hg38GRCh38
GRCh37772,490,248 - 72,500,313 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36772,156,258 - 72,163,557 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map7q11.23NCBI
CHM1_1772,664,042 - 72,671,338 (-)NCBICHM1_1
T2T-CHM13v2.0774,247,948 - 74,258,006 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2771,823,082 - 71,833,131 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9847074   PMID:12477932   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1 copy number loss See cases [RCV000050996] Chr7:72930548..74869255 [GRCh38]
Chr7:72401086..74285345 [GRCh37]
Chr7:72039022..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3 copy number gain See cases [RCV000051965] Chr7:72649515..75361855 [GRCh38]
Chr7:72196405..74991125 [GRCh37]
Chr7:71752436..74829061 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1 copy number loss See cases [RCV000052321] Chr7:68668307..73710276 [GRCh38]
Chr7:68133294..72806397 [GRCh37]
Chr7:67771230..72762542 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 copy number loss See cases [RCV000135816] Chr7:71461127..73614730 [GRCh38]
Chr7:70926112..72806397 [GRCh37]
Chr7:70564048..72666996 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 copy number loss See cases [RCV000142528] Chr7:62736364..75432710 [GRCh38]
Chr7:62196742..75061986 [GRCh37]
Chr7:61834177..74899922 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3 copy number gain See cases [RCV000142242] Chr7:62977085..75415352 [GRCh38]
Chr7:62437463..75044630 [GRCh37]
Chr7:62074898..74882566 [NCBI36]
Chr7:7q11.21-11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3 copy number gain See cases [RCV000136287] Chr7:72938064..74779028 [GRCh38]
Chr7:72408602..74193374 [GRCh37]
Chr7:72046538..73831310 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1 copy number loss See cases [RCV000143344] Chr7:71478043..73444574 [GRCh38]
Chr7:70943028..72806397 [GRCh37]
Chr7:70580964..72496840 [NCBI36]
Chr7:7q11.22-11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3 copy number gain See cases [RCV000051966] Chr7:72768821..74869255 [GRCh38]
Chr7:72233835..74285345 [GRCh37]
Chr7:71871771..73923281 [NCBI36]
Chr7:7q11.23		 pathogenic
Markers in Region
D7S3265  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q22.1UniSTS
RH71228  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7q11.23UniSTS
GeneMap99-GB4 RH Map7426.84UniSTS
NCBI RH Map7887.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system
High
Medium
Low
Below cutoff 11 6 4 31 4 19 2 11 7 11 35

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000333385   ⟹   ENSP00000498819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl773,019,719 - 73,029,766 (-)Ensembl
RefSeq Acc Id: NM_001382525   ⟹   NP_001369454
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38773,019,719 - 73,029,766 (-)NCBI
T2T-CHM13v2.0774,247,948 - 74,258,006 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001369454 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000498819
  ENSP00000498819.1
GenBank Protein P0DUD1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001369454   ⟸   NM_001382525
- UniProtKB: P0DUX0 (UniProtKB/Swiss-Prot),   P0DUD2 (UniProtKB/Swiss-Prot),   P0DUD1 (UniProtKB/Swiss-Prot),   P0DTA3 (UniProtKB/Swiss-Prot),   A0A494C191 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000498819   ⟸   ENST00000333385

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A494C191-F1-model_v2 AlphaFold A0A494C191 1-265 view protein structure
AF-P0DUD1-F1-model_v2 AlphaFold P0DUD1 1-265 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33771 AgrOrtholog
COSMIC SPDYE8 COSMIC
Ensembl Genes ENSG00000273520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333385 ENTREZGENE
  ENST00000333385.11 UniProtKB/Swiss-Prot
GTEx ENSG00000273520 GTEx
HGNC ID HGNC:33771 ENTREZGENE
Human Proteome Map SPDYE8 Human Proteome Map
InterPro Speedy UniProtKB/Swiss-Prot
NCBI Gene SPDYE8P ENTREZGENE
PANTHER PTHR31156 UniProtKB/Swiss-Prot
  SPEEDY PROTEIN E2-RELATED UniProtKB/Swiss-Prot
Pfam Spy1 UniProtKB/Swiss-Prot
UniProt A0A494C191 ENTREZGENE
  P0DTA3 ENTREZGENE
  P0DUD1 ENTREZGENE
  P0DUD2 ENTREZGENE
  P0DUX0 ENTREZGENE
  SPD8_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-26 SPDYE8  speedy/RINGO cell cycle regulator family member E8  SPDYE8P  speedy/RINGO cell cycle regulator family member E8, pseudogene  Symbol and/or name change 5135510 APPROVED
2016-04-01 SPDYE8P  speedy/RINGO cell cycle regulator family member E8, pseudogene  LOC441257  hypothetical LOC441257  Data merged from RGD:1605480 737654 PROVISIONAL
2013-05-14 SPDYE8P  speedy/RINGO cell cycle regulator family member E8, pseudogene    speedy homolog E8 (Xenopus laevis), pseudogene  Symbol and/or name change 5135510 APPROVED