| 1345145 | PML | PML nuclear body scaffold | The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor an d tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] | 15 | 73994716 | 74047827 | Human | 517 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1604582 | PRAM1 | PML-RARA regulated adaptor molecule 1 | The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expre ssion of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008] | 19 | 8490056 | 8502640 | Human | 67 | old_gene_name , name , description , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 16572626 | AC013486.1 | novel transcript, antisense to PML | | | | | Human | | name | gene, lncrna |
| 1606654 | GOLGA6A | golgin A6 family member A | The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008] | 15 | 74069857 | 74082550 | Human | 17 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 733999 | RARA | retinoic acid receptor alpha | This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Tr anslocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010] | 17 | 40309180 | 40357643 | Human | 562 | old_gene_name | gene, protein-coding, REVIEWED [RefSeq] |
| 736785 | PLLP | plasmolipin | Enables identical protein binding activity. Involved in myelin assembly and regulation of transcytosis. Located in myelin sheath and plasma membrane. Biomarker of schizophrenia. [provided by Alliance of Genome Resources, Jul 2025] | 16 | 57256097 | 57284672 | Human | 130 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1605941 | SNIP1 | Smad nuclear interacting protein 1 | This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signa ling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012] | 1 | 37534449 | 37554293 | Human | 143 | old_gene_name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1346209 | GJC2 | gap junction protein gamma 2 | This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defec ts in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008] | 1 | 228149930 | 228159826 | Human | 479 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1348100 | SP100 | SP100 nuclear antigen | This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011] | 2 | 230416201 | 230545606 | Human | 196 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1316870 | THAP1 | THAP domain containing 1 | The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAW R to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] | 8 | 42836674 | 42843325 | Human | 181 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1347816 | CIART | circadian associated repressor of transcription | Predicted to enable E-box binding activity. Predicted to be involved in circadian regulation of gene expression; locomotor rhythm; and negative regulation of DNA-templated transcription. Predicted to be located in PML body. Predicted to be active in nucleus. [pr ovided by Alliance of Genome Resources, Jul 2025] | 1 | 150282554 | 150287093 | Human | 120 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1323023 | EIF3E | eukaryotic translation initiation factor 3 subunit E | Enables RNA binding activity and cadherin binding activity. Contributes to translation initiation factor activity. Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; and translational initiation. Located in PML 0;'>PML body and cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 108201216 | 108248717 | Human | 163 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1346265 | GCNA | germ cell nuclear acidic peptidase | Enables SUMO polymer binding activity. Involved in protein-DNA covalent cross-linking repair. Located in PML body. Implicated in X-linked spermatogenic failure 4. [provided by Alliance of Genome Resources, Jul 2025] | X | 71578437 | 71613583 | Human | 76 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1315131 | HABP4 | hyaluronan binding protein 4 | Enables SUMO binding activity. Involved in PML body organization; positive regulation of RNA splicing; and positive regulation of translational initiation. Located in several cellular components, including cytoplasmic stress granule; nuclear lumen; and nuclear m embrane. [provided by Alliance of Genome Resources, Jul 2025] | 9 | 96450102 | 96491336 | Human | 110 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1315218 | MLIP | muscular LMNA interacting protein | Predicted to enable lamin binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of cardiac muscle hypertrophy in response to stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymeras e II. Predicted to be located in PML body; nuclear envelope; and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 54018970 | 54266280 | Human | 105 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1605706 | N4BP1 | NEDD4 binding protein 1 | Enables RNA nuclease activity; mRNA binding activity; and ubiquitin binding activity. Involved in cellular response to UV and negative regulation of viral genome replication. Predicted to be located in cytosol and nucleolus. Predicted to be active in PML body. [ provided by Alliance of Genome Resources, Jul 2025] | 16 | 48538726 | 48610180 | Human | 122 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1603852 | RD3 | RD3 regulator of GUCY2D | This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing res ults in multiple transcript variants. [provided by RefSeq, Sep 2009] | 1 | 211476522 | 211492162 | Human | 167 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604268 | RPAIN | RPA interacting protein | Predicted to enable zinc ion binding activity. Acts upstream of or within protein import into nucleus and response to UV. Located in PML body; cytoplasm; and fibrillar center. [provided by Alliance of Genome Resources, Jul 2025] | 17 | 5420182 | 5432877 | Human | 75 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1606807 | SERBP1 | SERPINE1 mRNA binding protein 1 | Enables several functions, including SUMO binding activity; mRNA 3'-UTR binding activity; and ribosome binding activity. Involved in PML body organization and ribosome hibernation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jul 20 25] | 1 | 67407810 | 67430402 | Human | 156 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1604161 | SIMC1 | SUMO interacting motifs containing 1 | Enables SUMO polymer binding activity and peptidase inhibitor activity. Located in PML body and sarcomere. [provided by Alliance of Genome Resources, Jul 2025] | 5 | 176238424 | 176345989 | Human | 57 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1349080 | SLF2 | SMC5/6 complex localization factor 2 | Enables ubiquitin protein ligase binding activity. Involved in several processes, including positive regulation of cellular component organization; positive regulation of double-strand break repair; and protein localization to site of double-strand break. Located in PML L body; chromatin; and site of double-strand break. Implicated in mosaic variegated aneuploidy syndrome. [provided by Alliance of Genome Resources, Jul 2025] | 10 | 100912963 | 100965134 | Human | 127 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1312269 | SPTBN4 | spectrin beta, non-erythrocytic 4 | Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 19 | 40467001 | 40576464 | Human | 219 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1601685 | SUMO1P1 | SUMO1 pseudogene 1 | Enables identical protein binding activity. Involved in PML body organization and protein sumoylation. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025] | 20 | 53874498 | 53875709 | Human | 21 | description | gene, pseudo, PROVISIONAL [RefSeq] |
| 1318027 | UBA7 | ubiquitin like modifier activating enzyme 7 | The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008] | 3 | 49805209 | 49813953 | Human | 162 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1314152 | ZNF451 | zinc finger protein 451 | Enables SUMO ligase activity; transcription corepressor activity; and transcription regulator inhibitor activity. Involved in negative regulation of transcription initiation by RNA polymerase II; negative regulation of transforming growth factor beta receptor signaling pathway; and protein sumoylati on. Located in PML body. [provided by Alliance of Genome Resources, Jul 2025] | 6 | 57090188 | 57170305 | Human | 93 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 16556958 | AL020989.1 | transmembrane 4 superfamily member 11 (plasmolipin) (PMLP) pseudogene | | | | | Human | | name | gene, processed_pseudogene |
