SSU72L6

Summary

SSU72L6 (SSU72 like 6, HGNC:43627) is a protein-coding gene on chromosome 7q31.33, encoding RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 6 (A0A1W2PR75). Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II.

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.

Source: NCBI Gene 136157 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001414004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43627
Approved symbol	SSU72L6
Name	SSU72 like 6
Location	7q31.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230268
Ensembl biotype	protein_coding
Entrez	136157

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000473520

RefSeq mRNA: 1 — MANE Select: NM_001414004 NM_001414004

Canonical transcript exons

ENST00000473520 — 1 exons

Exon	Start	End
ENSE00001846332	124476317	124477664

Expression profiles

Bgee: expression breadth broad, 12 present calls, max score 86.11.

Top tissues by expression

218 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.11	gold quality
secondary oocyte	CL:0000655	79.50	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	70.43	gold quality
myocardium	UBERON:0002349	63.87	gold quality
biceps brachii	UBERON:0001507	63.45	gold quality
vastus lateralis	UBERON:0001379	62.78	gold quality
quadriceps femoris	UBERON:0001377	62.66	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.66	gold quality
buccal mucosa cell	CL:0002336	62.19	gold quality
trabecular bone tissue	UBERON:0002483	59.45	gold quality
oocyte	CL:0000023	59.40	gold quality
deltoid	UBERON:0001476	58.79	gold quality
cerebellar vermis	UBERON:0004720	56.84	gold quality
gingival epithelium	UBERON:0001949	56.05	gold quality
Brodmann (1909) area 23	UBERON:0013554	55.94	gold quality
right testis	UBERON:0004534	54.94	gold quality
parotid gland	UBERON:0001831	54.84	gold quality
esophagus squamous epithelium	UBERON:0006920	54.76	gold quality
medial globus pallidus	UBERON:0002477	54.17	gold quality
tendon of biceps brachii	UBERON:0008188	54.11	gold quality
skeletal muscle tissue	UBERON:0001134	54.08	gold quality
gingiva	UBERON:0001828	53.91	gold quality
left testis	UBERON:0004533	53.85	gold quality
cartilage tissue	UBERON:0002418	53.51	gold quality
testis	UBERON:0000473	53.19	gold quality
oral cavity	UBERON:0000167	52.90	gold quality
lower lobe of lung	UBERON:0008949	52.88	silver quality
Brodmann (1909) area 46	UBERON:0006483	52.57	gold quality
globus pallidus	UBERON:0001875	52.53	gold quality
heart right ventricle	UBERON:0002080	51.68	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ssu72	ENSDARG00000031216
drosophila_melanogaster	Ssu72	FBGN0031054
caenorhabditis_elegans		WBGENE00020480

Paralogs (6): SSU72 (ENSG00000160075), SSU72L4 (ENSG00000283873), SSU72L5 (ENSG00000284018), SSU72L2 (ENSG00000284306), SSU72L1 (ENSG00000284438), SSU72L3 (ENSG00000284546)

Protein

Protein identifiers

RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 6 — A0A1W2PR75 (reviewed: A0A1W2PR75)

Alternative names: RNA polymerase II subunit A C-terminal domain phosphatase SSU72L6

All UniProt accessions (1): A0A1W2PR75

UniProt curated annotations — full annotation on UniProt →

Function. Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination.

Subcellular location. Nucleus.

Similarity. Belongs to the SSU72 phosphatase family.

RefSeq proteins (1): NP_001400933* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006811	RNA_pol_II_suA	Family
IPR036196	Ptyr_pPase_sf	Homologous_superfamily

Pfam: PF04722

Catalyzed reactions (Rhea), 2 shown:

• O-phospho-L-seryl-[protein] + H2O = L-seryl-[protein] + phosphate (RHEA:20629)
• O-phospho-L-threonyl-[protein] + H2O = L-threonyl-[protein] + phosphate (RHEA:47004)

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1W2PR75-F1	94.90	0.91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 24 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, GOBP_MRNA_3_END_PROCESSING, GOBP_TERMINATION_OF_RNA_POLYMERASE_II_TRANSCRIPTION, GOCC_MRNA_CLEAVAGE_FACTOR_COMPLEX, chr7q31, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_PROTEIN_SERINE_THREONINE_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHORIC_ESTER_HYDROLASE_ACTIVITY, GOBP_MRNA_PROCESSING, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_PHOSPHOPROTEIN_PHOSPHATASE_ACTIVITY, GOMF_RNA_POLYMERASE_II_CTD_HEPTAPEPTIDE_REPEAT_PHOSPHATASE_ACTIVITY, GOMF_PHOSPHATASE_ACTIVITY, GOCC_MRNA_CLEAVAGE_AND_POLYADENYLATION_SPECIFICITY_FACTOR_COMPLEX

GO Biological Process (4): termination of RNA polymerase II transcription (GO:0006369), mRNA 3’-end processing (GO:0031124), regulation of transcription by RNA polymerase II (GO:0006357), mRNA processing (GO:0006397)

GO Molecular Function (4): RNA polymerase II CTD heptapeptide repeat phosphatase activity (GO:0008420), phosphoprotein phosphatase activity (GO:0004721), protein serine/threonine phosphatase activity (GO:0004722), hydrolase activity (GO:0016787)

GO Cellular Component (2): mRNA cleavage and polyadenylation specificity factor complex (GO:0005847), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	2
DNA-templated transcription termination	1
mRNA processing	1
RNA 3’-end processing	1
regulation of DNA-templated transcription	1
RNA processing	1
mRNA metabolic process	1
protein serine/threonine phosphatase activity	1
RNA polymerase II CTD heptapeptide repeat modifying activity	1
phosphatase activity	1
catalytic activity, acting on a protein	1
phosphoprotein phosphatase activity	1
catalytic activity	1
mRNA cleavage factor complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

374 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SSU72L6	SYMPK	Q92797	207
SSU72L6	PCF11	O94913	207
SSU72L6	CSTF3	Q12996	207
SSU72L6	CTDP1	Q9Y5B0	207
SSU72L6	WDR82	Q6UXN9	206
SSU72L6	GTF2B	Q00403	206
SSU72L6	CPSF1	Q10570	206
SSU72L6	CPSF3	Q9UKF6	205
SSU72L6	CPSF2	Q9P2I0	205
SSU72L6	SUPT5H	O00267	205
SSU72L6	PIN1	Q13526	204
SSU72L6	WDR33	Q9C0J8	204
SSU72L6	RPAP2	Q8IXW5	204
SSU72L6	POLR2B	P30876	194
SSU72L6	POLR2A	P24928	188

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1W2PQ27, A0A1W2PQ64, A0A1W2PQC6, A0A1W2PQD8, A0A1W2PQJ5, A0A1W2PR75, A2AV36, A4QN59, A6QQV6, D4A1F2, F1RA39, G5E8F4, J9SQF3, O00142, O42868, O55239, O95050, O95932, O97972, P0CR76, P0CR77, P10938, P40261, P40936, P53538, Q01841, Q22453, Q32LP9, Q4R7D0, Q566Y1, Q5M9G7, Q5RFR7, Q5U4E8, Q5XG58, Q62160, Q6C195, Q6CQ61, Q6DE00, Q6FMU7, Q6PCI6

Diamond homologs: A0A1W2PQ27, A0A1W2PQ64, A0A1W2PQC6, A0A1W2PQD8, A0A1W2PQJ5, A0A1W2PR75, O42868, P0CR76, P0CR77, P53538, Q17QI2, Q22453, Q2HFZ9, Q2UPU5, Q4IPC8, Q4KLK9, Q4WHY5, Q558Z3, Q5ZJQ7, Q6BYP7, Q6C195, Q6CQ61, Q6FMU7, Q6NRQ7, Q6PC19, Q75E60, Q7SFY0, Q9CY97, Q9NP77

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:124476476:T:C	F36L	0.965
7:124476478:C:A	F36L	0.965
7:124476478:C:G	F36L	0.965
7:124476646:G:C	K92N	0.940
7:124476646:G:T	K92N	0.940
7:124476539:T:C	F57L	0.939
7:124476541:T:A	F57L	0.939
7:124476541:T:G	F57L	0.939
7:124476947:T:C	F193L	0.929
7:124476949:C:A	F193L	0.929
7:124476949:C:G	F193L	0.929
7:124476662:T:C	F98L	0.921
7:124476664:T:A	F98L	0.921
7:124476664:T:G	F98L	0.921
7:124476683:T:C	F105L	0.906
7:124476685:T:A	F105L	0.906
7:124476685:T:G	F105L	0.906
7:124476425:A:C	S19R	0.889
7:124476427:C:A	S19R	0.889
7:124476427:C:G	S19R	0.889
7:124476663:T:C	F98S	0.883
7:124476645:A:C	K92T	0.842
7:124476777:T:A	V136E	0.837
7:124476644:A:G	K92E	0.836
7:124476663:T:G	F98C	0.833
7:124476771:T:A	V134E	0.819
7:124476396:C:A	A9D	0.812
7:124476696:T:C	F109S	0.808
7:124476784:C:A	N138K	0.807
7:124476784:C:G	N138K	0.807

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.