Family Search for PF15735 (DUF4683)
PF15735 hits 7 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
XP_015140065 DNA polymerase zeta catalytic subunit from Gallus gallus
Aligns to 747:1139 / 3167 (12.4%), covers 99.8% of PF15735, 617.1 bits
REV3L_HUMAN / O60673 DNA polymerase zeta catalytic subunit; Protein reversionless 3-like; REV3-like; hREV3; EC 2.7.7.7 from Homo sapiens (Human) (see 3 papers)
NP_002903 DNA polymerase zeta catalytic subunit isoform a from Homo sapiens
Aligns to 745:1133 / 3130 (12.4%), covers 99.8% of PF15735, 585.2 bits
- function: Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function.
catalytic activity: a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1) (RHEA:22508)
cofactor: [4Fe-4S] cluster (Binds 1 [4Fe-4S] cluster.)
subunit: Heterodimer with MAD2L2. This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context. Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta. - Peptidome characterization of ovarian cancer serum and the identification of tumor suppressive peptide ZYX36-58
Wang, Annals of translational medicine 2020 - “...1.94901 Down 0.021372 O00161 SNP23_HUMAN TNGQLQQPT 1.92509 Down 0.013627 P02671 FIBA_HUMAN MADEAGSEADHEGTHST 1.89567 Down 0.031302 O60673 DPOLZ_HUMAN PYLRQ 1.84589 Down 0.021651 P02775 CXCL7_HUMAN NLAKGKEESLDSD 1.69837 Down 0.029394 P01024 CO3_HUMAN TLDPER 1.69714 Down 0.041666 P01024 CO3_HUMAN SEETKENEGF 1.64204 Down 0.016716 P01024 CO3_HUMAN EGFTVTAEGK 1.63584 Down 0.048265 P01024...”
- Evolutionary Study of Disorder in Protein Sequences.
Kastano, Biomolecules 2020 - “...annotated with the GO term translesion synthesis: REV3L, REV1 and POLH (DNA polymerase eta, Pol) (O60673, Q9Y253 and Q9UBZ9). According to the HIPPIE database, these proteins are known to interact with each other [ 35 , 36 ]. These results suggest that disorder evolution might be...”
- Functional Polymorphisms in DNA Repair Genes Are Associated with Sporadic Colorectal Cancer Susceptibility and Clinical Outcome.
Jiraskova, International journal of molecular sciences 2018 - “...> G Asn373Ser 0.12 no no deleterious NA Destabilizing (0.596 Kcal/mol) X X REV3L DSB O60673 rs3204953 G > A Val2986Ile 0.17 no no deleterious Destabilizing (Core 1.965) NA X X RPA1 BER, DSB, NER P27694 rs5030755 A > G Thr351Ala 0.10 no no deleterious NA...”
- Quantitative proteomic analysis for high-throughput screening of differential glycoproteins in hepatocellular carcinoma serum
Gao, Cancer biology & medicine 2015 - “...12 OS=Homo sapiens GN=AKAP12 PE=1 SV=4 - [AKA12_HUMAN] 1.80 2 2 2 1,782 191.4 4.41 O60673 DNA polymerase zeta catalytic subunit OS=Homo sapiens GN=REV3L PE=1 SV=2 - [DPOLZ_HUMAN] 0.58 3 2 2 3,130 352.6 8.47 B4E2M2 cDNA FLJ54903 OS=Homo sapiens PE=2 SV=1 - [B4E2M2_HUMAN] 4.96 2...”
- Altered blood proteome in girls with high urine concentrations of bisphenol a, genistein, mono-ethyl hexylphthalate and mono-benzyl phthalate.
Wang, MOJ proteomics & bioinformatics 2015 - “...0.88 3 +4.94 1.53 Q99543 DnaJ homolog subfamily C member 2 0.99 2 +2.57 0.92 O60673 DNA polymerase zeta catalytic subunit 0.92 2 2.66 0.95 Q8WXX0 dynein heavy chain 7 0.80 2 +2.11 2.33 O75411 Krueppel-like factor 10 (KLFI0) 0.95 2 +2.61 1.47 P08F94 fibrocystin 0.98...”
- Single-nucleotide base excision repair DNA polymerase activity in C. elegans in the absence of DNA polymerase β.
Asagoshi, Nucleic acids research 2012 - “...POLS Q5XG87 ZK858.1 Q94419 845 94.31 REV1L (REV1) Q9UBZ9 ZK675.2 Q09615 1027 115.85 REV3L (POLZ) O60673 Y37B11A.2 Q9BKQ3 1133 129.07 a In this search, pol , pol and pol were not found in C. elegans . In the experiments described below, we found BER in extracts,...”
- A targeted proteomic analysis of the ubiquitin-like modifier nedd8 and associated proteins
Jones, Journal of proteome research 2008 - “...Q07864 DNA polymerase epsilon catalytic subunit A O60673 DNA polymerase zeta catalytic subunit P11388 DNA topoisomerase 2-alpha Q02880 DNA topoisomerase 2-beta...”
- A sophisticated mechanism governs Pol ζ activity in response to replication stress.
Li, Nature communications 2024 - GeneRIF: A sophisticated mechanism governs Pol zeta activity in response to replication stress.
- Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.
Halas, Journal of molecular medicine (Berlin, Germany) 2021 (PubMed)- GeneRIF: Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.
- Error-prone bypass patch by a low-fidelity variant of DNA polymerase zeta in human cells.
Suzuki, DNA repair 2021 (PubMed)- GeneRIF: Error-prone bypass patch by a low-fidelity variant of DNA polymerase zeta in human cells.
- Disruption of DNA polymerase ζ engages an innate immune response.
Martin, Cell reports 2021 - GeneRIF: Disruption of DNA polymerase zeta engages an innate immune response.
- REV1-Polζ maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps.
Taglialatela, Molecular cell 2021 - GeneRIF: REV1-Polzeta maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps.
- DNA polymerase zeta contributes to heterochromatin replication to prevent genome instability.
Ben, The EMBO journal 2021 - GeneRIF: DNA polymerase zeta contributes to heterochromatin replication to prevent genome instability.
- The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair.
Adeyemi, Molecular cell 2021 - GeneRIF: The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair.
- REV3L single nucleotide variants lead to increased susceptibility towards non-small cell lung cancer in the population of Jammu and Kashmir.
Jamwal, Cancer epidemiology 2021 (PubMed)- GeneRIF: REV3L single nucleotide variants lead to increased susceptibility towards non-small cell lung cancer in the population of Jammu and Kashmir.
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NEXMI_HUMAN / Q5QGS0 Neurite extension and migration factor; XLMR protein related to neurite extension; XPN from Homo sapiens (Human) (see 7 papers)
NP_001008537 neurite extension and migration factor from Homo sapiens
Aligns to 284:690 / 1516 (26.8%), covers 100.0% of PF15735, 421.8 bits
- function: Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).
- Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
Celik, Eye (London, England) 2022 - GeneRIF: Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation.
- NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
Langley, American journal of medical genetics. Part A 2022 - GeneRIF: NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent.
- NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.
Chen, Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022 - GeneRIF: NEXMIF mutations in intellectual disability and epilepsy: A report of 2 cases and literature review.", trans "NEXMIF2.
- [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].
Gamirova, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2022 (PubMed)- GeneRIF: [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].", trans "Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022.
- NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger, Genetics in medicine : official journal of the American College of Medical Genetics 2021 (PubMed)- GeneRIF: NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
- Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
Panda, Brain & development 2020 (PubMed)- GeneRIF: Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.
- Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo, American journal of medical genetics. Part A 2018 (PubMed)- GeneRIF: Clinical spectrum of KIAA2022 pathogenic variants in males.[review]
- Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert, Journal of human genetics 2018 (PubMed)- GeneRIF: This is a study of the novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
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- Utilizing glycine N-methyltransferasegene knockout mice as a model for identification of missing proteins in hepatocellular carcinoma.
Yang, Oncotarget 2018 - “...Evidence at protein level Q8TDG2 23 ACTRT1 Actin-related protein T1 ENSG00000123165 Evidence at protein level Q5QGS0 23 KIAA2022-001 Protein KIAA2022 ENSG00000050030 Evidence at transcript level Q96NR3 23 PTCHD1-201 Patched domain-containing protein 1 ENSG00000165186 Evidence at transcript level V A6NM62 1 LRRC53 Leucine-rich repeat-containing protein 53 ENSG00000162621...”
- Altered blood proteome in girls with high urine concentrations of bisphenol a, genistein, mono-ethyl hexylphthalate and mono-benzyl phthalate.
Wang, MOJ proteomics & bioinformatics 2015 - “...B9A064 immunoglobulin lambda-like polypeptide 5 0.92 3 3.48 1.11 Q6NS18 KIAA1841 0.98 3 2.70 1.47 Q5QGS0 KIAA2022 0.91 2 +2.56 1.13 Q9Y496 kinesin-like protein 0.82 2 +2.47 1.20 Q9UMY1 nucleolar 7 0.82 2 +2.10 1.02 Q9NQX1 PR domain zinc finger 5 (PRDM5) 0.97 5 +2.30 0.95...”
NEXMI_MOUSE / Q5DTT1 Neurite extension and migration factor; KIAA2022 protein associated with intellectual disability, language impairment and autistic behavior homolog; KIDLIA from Mus musculus (Mouse) (see 3 papers)
XP_030107200 neurite extension and migration factor isoform X1 from Mus musculus
Aligns to 284:690 / 1515 (26.9%), covers 99.8% of PF15735, 414.0 bits
- function: Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).
- NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.
Gilbert, The Journal of neuroscience : the official journal of the Society for Neuroscience 2020 - GeneRIF: ale NEXMIF KO mice demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory. Loss of NEXMIF/KIDLIA expression results in a significant decrease in synapse density and synaptic protein expression. Male KO animals show aberrant synaptic function as measured by excitatory miniatures and postsynaptic currents in the hippocampus.
- The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and δ-Catenin Signaling.
Gilbert, eNeuro - GeneRIF: Knockdown of KIAA2022/KIDLIA leads to altered neuron migration and a reduction in dendritic growth and disorganized apical dendrite projections in layer II/III cortical neurons. In cultured neurons loss of KIDLIA expression also leads to suppression of dendritic growth and branching. KIDLIA suppression leads to an increase in cell-surface N-cadherin and an elevated association of N-cadherin with delta-catenin.
- Utilizing Experimental Mouse Model to Identify Effectors of Hepatocellular Carcinoma Induced by HBx Antigen.
Yang, Cancers 2020 - “...from 3-phosphoadenosine 5-phosphosulfate (PAPS) to position 6 of the N-sulfoglucosamine residue (GlcNS) of heparan sulfate. Q5DTT1 KIAA2022-001 Neurite extension and migration factor Nucleus Cytoplasm Neurogenesis, Transcription, Transcription regulation Developmental protein Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by...”
NEXMI_RAT / D3ZGX1 Neurite extension and migration factor; KIAA2022 protein associated with intellectual disability, language impairment and autistic behavior homolog; KIDLIA; XLMR protein related to neurite extension; Xpn from Rattus norvegicus (Rat) (see 4 papers)
Aligns to 284:674 / 1517 (25.8%), covers 89.8% of PF15735, 407.5 bits
- function: Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway (PubMed:22531377, PubMed:23615299, PubMed:24071057, PubMed:27822498). May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1) (PubMed:24071057, PubMed:27822498).
AHDC1_MOUSE / Q6PAL7 Transcription factor Gibbin; AT-hook DNA-binding motif-containing protein 1 from Mus musculus (Mouse) (see paper)
NP_001391059 transcription factor Gibbin isoform 1 from Mus musculus
Aligns to 563:639 / 1594 (4.8%), covers 14.4% of PF15735, 45.4 bits
- function: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (By similarity). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (By similarity).
disruption phenotype: Lethality; mice do not survive past birth (PubMed:35585237). Mutant mice show developmental patterning defects affecting craniofacial structure, abdominal wall closure and epidermal stratification (PubMed:35585237). - Comparative proteomic profiling of dystroglycan-associated proteins in wild type, mdx, and Galgt2 transgenic mouse skeletal muscle.
Yoon, Journal of proteome research 2012 - “...58045.1 2.29E-04 8.10 2 1.77E-06 20.20 2 10 AT-hook DNA-binding motif-containing protein 1 (Ahdc1) IPI00420683 Q6PAL7 168072.5 4.44E-04 10.13 1 9.52E-05 10.14 2 11 GDP-L-fucose synthase (Tsta3) IPI00133690 P23591 35855.0 8.93E-04 10.09 1 3.67E-04 9.15 1 Table 6 Proteins unique to Galgt2 Tg DG IPs not...”
- Ahdc1 is a potent regulator of obesity and energy metabolism.
Li, American journal of physiology. Endocrinology and metabolism 2023 (PubMed)- GeneRIF: Ahdc1 is a potent regulator of obesity and energy metabolism.
AHDC1_HUMAN / Q5TGY3 Transcription factor Gibbin; AT-hook DNA-binding motif-containing protein 1 from Homo sapiens (Human) (see 14 papers)
NP_001025053 transcription factor Gibbin from Homo sapiens
Aligns to 570:642 / 1603 (4.6%), covers 14.1% of PF15735, 45.1 bits
- function: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter chromatin architecture (PubMed:35585237). Interacts with many sequence-specific zinc-finger transcription factors and methyl-CpG-binding proteins to regulate the expression of mesoderm genes that wire surface ectoderm stratification (PubMed:35585237).
- Alternative 3'-end processing of long noncoding RNA initiates construction of nuclear paraspeckles.
Naganuma, The EMBO journal 2012 - Gibbin mesodermal regulation patterns epithelial development.
Collier, Nature 2022 - GeneRIF: Gibbin mesodermal regulation patterns epithelial development.
- AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
Kitagawa, PloS one 2022 - GeneRIF: AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing's sarcoma cells.
- Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat, Human mutation 2021 - GeneRIF: Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
- Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman, European journal of medical genetics 2021 (PubMed)- GeneRIF: Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
- Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
Wang, European journal of medical genetics 2020 (PubMed)- GeneRIF: Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
- Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency.
Cheng, Molecular genetics & genomic medicine 2019 - GeneRIF: De novo heterozygous variants in AHDC1 gene were identified in two patients with partial growth hormone deficiency.
- Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
Yang, BioMed research international 2019 - GeneRIF: Three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals.
- De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Xia, American journal of human genetics 2014 - GeneRIF: this study hasidentified AHDC1 de novo truncating mutations that most likely cause syndromic expressive language delay, hypotonia, and sleep apnea.
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Or search for genetic data about PF15735 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory