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...”
- 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.
- Blood mRNA expression of REV3L and TYMS as potential predictive biomarkers from platinum-based chemotherapy plus pemetrexed in non-small cell lung cancer patients.
Agulló-Ortuño, Cancer chemotherapy and pharmacology 2020 (PubMed)- GeneRIF: Blood mRNA expression of REV3L and TYMS as potential predictive biomarkers from platinum-based chemotherapy plus pemetrexed in non-small cell lung cancer patients.
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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).
- 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...”
- 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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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).
- 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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- Alternative 3'-end processing of long noncoding RNA initiates construction of nuclear paraspeckles.
Naganuma, The EMBO journal 2012
Or search for genetic data about PF15735 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory