WormBase Tree Display for Gene: WBGene00000235
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WBGene00000235 | Evidence | Paper_evidence | WBPaper00004269 | ||||
---|---|---|---|---|---|---|---|
SMap | S_parent | Sequence | B0464 | ||||
Identity | Version | 2 | |||||
Name | CGC_name | baf-1 | Person_evidence | WBPerson346 | |||
Sequence_name | B0464.7 | ||||||
Molecular_name | B0464.7 | ||||||
B0464.7.1 | |||||||
CE26704 | |||||||
Other_name | 3J557 | Accession_evidence | EMBL | AF303272 | |||
pna-1 | Person_evidence | WBPerson561 | |||||
WBPerson1780 | |||||||
CELE_B0464.7 | Accession_evidence | NDB | BX284603 | ||||
Public_name | baf-1 | ||||||
DB_info | Database (11) | ||||||
Species | Caenorhabditis elegans | ||||||
History | Version_change (2) | ||||||
Acquires_merge | WBGene00004065 | ||||||
Status | Live | ||||||
Gene_info | Biotype | SO:0001217 | |||||
Gene_class | baf | ||||||
Allele (13) | |||||||
Legacy_information | [Schnabel H] maternal effect embryonic lethal with abnormal pronuclear apppearance | ||||||
Strain (11) | |||||||
RNASeq_FPKM (74) | |||||||
GO_annotation (28) | |||||||
Contained_in_operon | CEOP3588 | ||||||
Ortholog (35) | |||||||
Structured_description | Concise_description | baf-1 encodes a small, novel protein that is highly conserved amongst metazoa; BAF-1 binds double-stranded DNA nonspecifically in vitro and is essential for proper chromosome segregation, embryogenesis, and gonad development in vivo; biochemical and phenotypic analyses suggest that BAF-1 functions as an intramolecular bridge that mediates nuclear assembly and chromatin capture by the reforming nuclear envelope; by homology with mammalian BAF proteins, BAF-1 is also predicted to play a role in regulating gene expression and higher-order chromatin structure; during interphase, BAF-1 colocalizes with LMN-1/lamin to the nuclear envelope and nuclear interior; during mitosis, BAF-1 is present in a more punctate pattern, localizing near condensing chromatin and maintaining this localization through telophase; BAF-1 localization during nuclear assembly requires the activity of LMN-1/lamin, EMR-1/emerin, and LEM-2/MAN1; baf-1 mutations also exhibit hypersensitivity to DNA damage and baf-1 exhibits genetics interactions with lem-3, suggesting that these two genes function together to regulate the DNA damage response. | Paper_evidence | WBPaper00004269 | |||
WBPaper00005828 | |||||||
WBPaper00024974 | |||||||
WBPaper00040826 | |||||||
Curator_confirmed | WBPerson1843 | ||||||
Date_last_updated | 12 Apr 2012 00:00:00 | ||||||
Automated_description | Predicted to enable double-stranded DNA binding activity and identical protein binding activity. Involved in several processes, including chromosome segregation; embryo development; and response to X-ray. Located in condensed chromosome, centromeric region; cytoplasm; and nucleus. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in Nestor-Guillermo progeria syndrome and hepatocellular carcinoma. Is an ortholog of human BANF1 (BAF nuclear assembly factor 1). | Paper_evidence | WBPaper00065943 | ||||
Curator_confirmed | WBPerson324 | ||||||
WBPerson37462 | |||||||
Inferred_automatically | This description was generated automatically by a script based on data from the WS291 version of WormBase | ||||||
Date_last_updated | 29 Nov 2023 00:00:00 | ||||||
Disease_info | Experimental_model | DOID:9884 | Homo sapiens | Paper_evidence | WBPaper00030942 | ||
Accession_evidence | OMIM | 614008 | |||||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 04 Feb 2013 00:00:00 | ||||||
Potential_model | DOID:0081334 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17397) | |||
DOID:684 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:17397) | ||||
Disease_relevance | Mutations in the human ortholog of baf-1, banf1, which encodes for the Barrier to Autointegration Factor 1 (BAF1), are found in Nestor-Guillerno progeria syndrome; Progeria syndromes are rare disorders that involve premature aging, characterized by aged appearance, growth retardation, decreased subcutaneous fat, thin limbs, and stiff joints; in vertebrates, BAF links nuclear lamina LEM domain proteins, like Emerin and LEM2, with DNA and heterochromatin; studies in elegans have discovered that BAF1 is required for viability, stable chromosome segregation, proper localization of emr-1/emerin and LEM2 at the nuclear periphery and together with emerin and lmn-1/lamin is required for nuclear membrane reassembly at the end of mitosis; BAF, in addition to be being regulated by the different complexes it forms with different LEM domain proteins is also regulated by cell-cycle dependent phosphorylation in elegans and mammals. | Homo sapiens | Paper_evidence | WBPaper00040268 | |||
Accession_evidence | OMIM | 614008 | |||||
603811 | |||||||
Curator_confirmed | WBPerson324 | ||||||
Date_last_updated | 05 Mar 2012 00:00:00 | ||||||
Models_disease_asserted | WBDOannot00000046 | ||||||
Molecular_info | Corresponding_CDS | B0464.7 | |||||
Corresponding_CDS_history | B0464.7:wp40 | ||||||
Corresponding_transcript | B0464.7.1 | ||||||
Other_sequence (50) | |||||||
Associated_feature | WBsf645489 | ||||||
WBsf645490 | |||||||
WBsf659408 | |||||||
WBsf976279 | |||||||
WBsf976280 | |||||||
WBsf976281 | |||||||
WBsf976282 | |||||||
WBsf976283 | |||||||
WBsf225571 | |||||||
WBsf225572 | |||||||
Experimental_info | RNAi_result (29) | ||||||
Expr_pattern | Expr3213 | ||||||
Expr4385 | |||||||
Expr7803 | |||||||
Expr1013669 | |||||||
Expr1030149 | |||||||
Expr1143252 | |||||||
Expr2009526 | |||||||
Expr2027763 | |||||||
Drives_construct (9) | |||||||
Construct_product | WBCnstr00004961 | ||||||
WBCnstr00004962 | |||||||
WBCnstr00004963 | |||||||
WBCnstr00011958 | |||||||
WBCnstr00037641 | |||||||
Antibody | WBAntibody00000919 | ||||||
WBAntibody00000920 | |||||||
WBAntibody00000921 | |||||||
WBAntibody00001196 | |||||||
Microarray_results (27) | |||||||
Expression_cluster (131) | |||||||
Interaction (115) | |||||||
Map_info | Map | III | Position | 0.562218 | Error | 0.005745 | |
Positive | Positive_clone | B0464 | Inferred_automatically | From CDS info | |||
From sequence, transcript, pseudogene data | |||||||
Mapping_data | Multi_point | 5000 | |||||
5288 | |||||||
Pseudo_map_position | |||||||
Reference (24) | |||||||
Remark | Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC. | CGC_data_submission | |||||
Method | Gene |