SSU72L3 (SSU72 like 3) - Rat Genome Database

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Gene: SSU72L3 (SSU72 like 3) Homo sapiens
Analyze
No known orthologs.
Symbol: SSU72L3
Name: SSU72 like 3
RGD ID: 5683937
HGNC Page HGNC:43622
Description: Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in termination of RNA polymerase II transcription. Predicted to be located in nucleus. Predicted to be part of mRNA cleavage and polyadenylation specificity factor complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CTD phosphatase SSU72L3; RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L3; SSU72 pseudogene 3; SSU72 RNA polymerase II CTD phosphatase homolog pseudogene 3; SSU72P3
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38114,329,790 - 4,330,864 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl114,329,790 - 4,330,864 (+)EnsemblGRCh38hg38GRCh38
GRCh37114,351,094 - 4,351,679 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36114,307,671 - 4,308,255 (+)NCBINCBI36Build 36hg18NCBI36
Celera114,267,724 - 4,268,309 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef114,029,277 - 4,029,862 (+)NCBIHuRef
CHM1_1114,350,889 - 4,351,474 (+)NCBICHM1_1
T2T-CHM13v2.0114,394,877 - 4,395,951 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:16554811   PMID:21873635  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.4(chr11:4304835-4510624)x1 copy number loss See cases [RCV000140826] Chr11:4304835..4510624 [GRCh38]
Chr11:4326065..4531854 [GRCh37]
Chr11:4282641..4488430 [NCBI36]
Chr11:11p15.4		 uncertain significance
GRCh38/hg38 11p15.4(chr11:4241592-4346063)x3 copy number gain See cases [RCV000139376] Chr11:4241592..4346063 [GRCh38]
Chr11:4262822..4367293 [GRCh37]
Chr11:4219398..4323869 [NCBI36]
Chr11:11p15.4		 likely benign
GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3 copy number gain See cases [RCV000141996] Chr11:3685244..4414881 [GRCh38]
Chr11:3706474..4436111 [GRCh37]
Chr11:3663050..4392687 [NCBI36]
Chr11:11p15.4		 uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_001413998.1(SSU72L1):c.165C>T (p.Tyr55=) single nucleotide variant not provided [RCV003397871] Chr11:4339080 [GRCh38]
Chr11:4360310 [GRCh37]
Chr11:11p15.4		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:347
Count of miRNA genes:170
Interacting mature miRNAs:174
Transcripts:ENST00000334468, ENST00000531780
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


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 circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 1 1 1 1 2 4 2
Below cutoff 32 87 28 24 72 23 91 48 57 1 98 11 1 57 78

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000640302   ⟹   ENSP00000491768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl114,329,790 - 4,330,864 (+)Ensembl
RefSeq Acc Id: NM_001414000   ⟹   NP_001400929
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38114,329,790 - 4,330,864 (+)NCBI
T2T-CHM13v2.0114,394,877 - 4,395,951 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001400929 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1W2PQJ5 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000491768
  ENSP00000491768.1
Reference Protein Sequences
RefSeq Acc Id: ENSP00000491768   ⟸   ENST00000640302
RefSeq Acc Id: NP_001400929   ⟸   NM_001414000
- UniProtKB: A0A1W2PQJ5 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1W2PQJ5-F1-model_v2 AlphaFold A0A1W2PQJ5 1-194 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:43622 AgrOrtholog
COSMIC SSU72L3 COSMIC
Ensembl Genes ENSG00000284546 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000640302 ENTREZGENE
  ENST00000640302.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.2300 UniProtKB/Swiss-Prot
GTEx ENSG00000284546 GTEx
HGNC ID HGNC:43622 ENTREZGENE
Human Proteome Map SSU72L3 Human Proteome Map
InterPro Ptyr_pPase_sf UniProtKB/Swiss-Prot
  RNA_pol_II_suA UniProtKB/Swiss-Prot
NCBI Gene SSU72P3 ENTREZGENE
PANTHER RNA POLYMERASE II SUBUNIT A C-TERMINAL DOMAIN PHOSPHATASE UniProtKB/Swiss-Prot
  RNA POLYMERASE II SUBUNIT A C-TERMINAL DOMAIN PHOSPHATASE SSU72 UniProtKB/Swiss-Prot
Pfam Ssu72 UniProtKB/Swiss-Prot
Superfamily-SCOP Phosphotyrosine protein phosphatases I UniProtKB/Swiss-Prot
UniProt A0A1W2PQJ5 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-11-28 SSU72L3  SSU72 like 3  SSU72P3  SSU72 pseudogene 3  Symbol and/or name change 19259463 PROVISIONAL
2013-10-22 SSU72P3  SSU72 pseudogene 3    SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) pseudogene 3  Symbol and/or name change 5135510 APPROVED