TRIM64C

Summary

TRIM64C (tripartite motif containing 64C, HGNC:37148) is a protein-coding gene on chromosome 11p11.12, encoding Tripartite motif-containing protein 64C (A6NLI5).

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response and regulation of gene expression. Predicted to be active in cytoplasm.

Source: NCBI Gene 646754 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 97 total
• MANE Select transcript: NM_001206631

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37148
Approved symbol	TRIM64C
Name	tripartite motif containing 64C
Location	11p11.12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214891
Ensembl biotype	protein_coding
Entrez	646754

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000617704

RefSeq mRNA: 1 — MANE Select: NM_001206631 NM_001206631

CCDS: CCDS73287

Canonical transcript exons

ENST00000617704 — 6 exons

Exon	Start	End
ENSE00001536879	49056359	49056381
ENSE00002140227	49055310	49055407
ENSE00002156626	49058701	49059112
ENSE00002179599	49058078	49058172
ENSE00003717030	49057148	49057378
ENSE00003790534	49053714	49054207

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 53.47.

Top tissues by expression

133 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	53.47	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
monocyte	CL:0000576	29.36	gold quality
leukocyte	CL:0000738	29.20	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.04	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
muscle of leg	UBERON:0001383	24.80	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	24.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.28

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

Tripartite motif-containing protein 64C — A6NLI5 (reviewed: A6NLI5)

All UniProt accessions (1): A6NLI5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TRIM/RBCC family.

RefSeq proteins (1): NP_001193560* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR003877	SPRY_dom	Domain
IPR003879	Butyrophylin_SPRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR050143	TRIM/RBCC	Family

Pfam: PF00622, PF00643

UniProt features (9 total): binding site 4, zinc finger region 2, chain 1, domain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NLI5-F1	84.08	0.44

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 92; 95; 114; 120

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_AMINOACYLTRANSFERASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_LIGASE_ACTIVITY, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERSPECIES_INTERACTION_BETWEEN_ORGANISMS, chr11p11

GO Biological Process (2): regulation of gene expression (GO:0010468), innate immune response (GO:0045087)

GO Molecular Function (4): zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of macromolecule biosynthetic process	1
immune response	1
defense response to symbiont	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM64C	TRIM44	Q96DX7	250
TRIM64C	TRIM66	O15016	249
TRIM64C	NAALAD2	Q9Y3Q0	218
TRIM64C	JAK2	O60674	214
TRIM64C	IGFBP3	P17936	213
TRIM64C	FOLH1	Q04609	199
TRIM64C	MTPAP	Q9NVV4	166
TRIM64C	CNOT8	Q9UFF9	156
TRIM64C	RNF181	Q9P0P0	151
TRIM64C	STAT3	P40763	138
TRIM64C	UBE2B	P23567	102
TRIM64C	UBE2A	P49459	102
TRIM64C	MBD3L5	A6NJ08	95
TRIM64C	MBD3L3	A6NE82	95
TRIM64C	MBD3L2	Q8NHZ7	95

IntAct

2 interactions, top by confidence:

A	B	Type	Score
TRIM64C	CHCHD3	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A0A3B3IT33, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, C9J1S8, I1YAP6, K7N6K2, P0CI25, P0CI26, P15533, Q0PF16, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q2YEM8, Q2YEM9, Q2YEN0, Q2YEN2, Q3ZEE5, Q587N6, Q587N7, Q5BN31, Q5C8T6, Q5C8T8, Q5C8U1, Q5C8U3, Q5C8U4, Q5D7H7, Q5D7H8, Q5D7I0, Q5D7I1, Q5D7I2, Q5D7I3, Q5D7I5, Q5D7I6, Q5D7I9, Q5D7J0

Diamond homologs: A0A3B3IT33, A6NCK2, A6NDI0, A6NGJ6, A6NI03, A6NLI5, B0BLU1, C9J1S8, I1YAP6, O00478, O00481, O15344, O75677, O75678, O75679, O76064, P0CI25, P0CI26, P18892, P19474, P62603, P86448, P86449, Q13410, Q2HJ46, Q3C1V9, Q3TL54, Q4KLN8, Q5EBN2, Q5PQN2, Q5R4I2, Q5R996, Q61510, Q62556, Q6INS5, Q6MFY8, Q6UX41, Q6UXE8, Q6ZWI9, Q7T308

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM64C	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

456 predictions. Top by Δscore:

Variant	Effect	Δscore
11:49054208:C:CC	acceptor_gain	1.0000
11:49056355:TCACC:T	donor_loss	1.0000
11:49056356:CA:C	donor_loss	1.0000
11:49056357:A:C	donor_loss	1.0000
11:49056382:C:CC	acceptor_gain	1.0000
11:49056382:CT:C	acceptor_loss	1.0000
11:49056383:T:C	acceptor_loss	1.0000
11:49054204:TCCA:T	acceptor_gain	0.9900
11:49054205:CCA:C	acceptor_gain	0.9900
11:49054205:CCAC:C	acceptor_gain	0.9900
11:49054206:CA:C	acceptor_gain	0.9900
11:49054206:CAC:C	acceptor_gain	0.9900
11:49055408:C:CC	acceptor_gain	0.9900
11:49056357:A:AC	donor_gain	0.9900
11:49056358:C:CC	donor_gain	0.9900
11:49056358:CCTTG:C	donor_gain	0.9900
11:49056378:CATC:C	acceptor_gain	0.9900
11:49056379:ATC:A	acceptor_gain	0.9900
11:49056380:TC:T	acceptor_gain	0.9900
11:49056381:CC:C	acceptor_gain	0.9900
11:49056385:C:CT	acceptor_gain	0.9900
11:49058703:AC:A	donor_gain	0.9900
11:49058704:CC:C	donor_gain	0.9900
11:49055403:CAGTT:C	acceptor_gain	0.9800
11:49056377:ACATC:A	acceptor_gain	0.9800
11:49056378:CATCC:C	acceptor_gain	0.9800
11:49058704:CCCTG:C	donor_gain	0.9800
11:49058819:AGTCT:A	donor_gain	0.9800
11:49054203:ATCCA:A	acceptor_gain	0.9700
11:49055406:TT:T	acceptor_gain	0.9700

AlphaMissense

3004 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:49058807:G:C	F102L	0.944
11:49058807:G:T	F102L	0.944
11:49058809:A:G	F102L	0.944
11:49059011:A:C	F34L	0.927
11:49059011:A:T	F34L	0.927
11:49059013:A:G	F34L	0.927
11:49053837:A:C	F410L	0.926
11:49053837:A:T	F410L	0.926
11:49053839:A:G	F410L	0.926
11:49055314:G:C	F285L	0.915
11:49055314:G:T	F285L	0.915
11:49055316:A:G	F285L	0.915
11:49053807:A:C	F420L	0.903
11:49053807:A:T	F420L	0.903
11:49053809:A:G	F420L	0.903
11:49054059:G:C	F336L	0.894
11:49054059:G:T	F336L	0.894
11:49054061:A:G	F336L	0.894
11:49054038:C:A	W343C	0.889
11:49054038:C:G	W343C	0.889
11:49054040:A:G	W343R	0.887
11:49054040:A:T	W343R	0.887
11:49054010:A:G	W353R	0.870
11:49054010:A:T	W353R	0.870
11:49053735:G:C	F444L	0.841
11:49053735:G:T	F444L	0.841
11:49053737:A:G	F444L	0.841
11:49053771:A:C	F432L	0.840
11:49053771:A:T	F432L	0.840
11:49053773:A:G	F432L	0.840

dbSNP variants (sampled 300 via entrez): RS1000190373 (11:49060393 A>T), RS1000437683 (11:49054695 G>C,T), RS1001191359 (11:49058901 T>C), RS1001222544 (11:49059191 G>A), RS1002273871 (11:49057713 C>A,G,T), RS1003452749 (11:49057271 T>TGCTTCTCTTTC), RS1004587803 (11:49057805 G>A,T), RS1005667299 (11:49056635 C>T), RS1006230756 (11:49055495 G>A), RS1007128801 (11:49060264 T>C), RS1007201581 (11:49053756 G>A,C), RS1007235873 (11:49054052 C>A,T), RS1008094453 (11:49058432 G>A), RS1008542003 (11:49058722 C>A,T), RS1010929594 (11:49057047 C>G,T)

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

2 associations (top):

Study	Trait	p-value
GCST008759_12	Intake of total sugars	7.000000e-06
GCST012100_10	Hypertrophic cardiomyopathy (sarcomere positive)	3.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010158	sugar consumption measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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