WormBase Tree Display for Gene: WBGene00002181
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| WBGene00002181 | Evidence | CGC_data_submission | |||||||
|---|---|---|---|---|---|---|---|---|---|
| SMap | S_parent | Sequence | CHROMOSOME_I | ||||||
| Identity | Version | 1 | |||||||
| Name | CGC_name | kal-1 | Person_evidence | WBPerson52 | |||||
| Sequence_name | K03D10.1 | ||||||||
| Molecular_name | K03D10.1 | ||||||||
| K03D10.1.1 | |||||||||
| CE35892 | |||||||||
| Other_name | CELE_K03D10.1 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | kal-1 | ||||||||
| DB_info | Database (11) | ||||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 07 Apr 2004 11:29:26 | WBPerson1971 | Event | Imported | Initial conversion from geneace | ||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | kal | ||||||||
| Allele (285) | |||||||||
| Strain | WBStrain00029304 | ||||||||
| WBStrain00028629 | |||||||||
| WBStrain00031791 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (18) | |||||||||
| Ortholog (31) | |||||||||
| Structured_description | Concise_description | kal-1 encodes a cell surface protein that contains a WAP-type protease inhibitor domain and Type III fibronectin domains and is the C. elegans ortholog of human KAL-1, mutated in the X-linked form of the neurological disorder Kallmann syndrome; in C. elegans, both kal-1 loss-of-function mutations and kal-1 overexpression result in similar phenotypes that indicate KAL-1 activity is required for epithelial morphogenesis and axon branching; kal-1 transcriptional reporters reveal expression beginning in the 50-cell stage embryo in 2-3 cells with later embryonic expression in at least 8-10 AB-derived ventral neuroblasts that are a substrate for migrating epidermal cells during ventral enclosure; later expression in larvae and adults is restricted to anterior neurons, including AIY, AIZ, RID, M5, ASI, and labial sensory neurons, ventral nerve cord motorneurons, midbody neurons HSN, CAN, and PVM, tail neurons DVB, DVC, and PDB, and the nonneuronal excretory cell as well as in uterine muscles; in the AIY interneurons, kal-1 is part of a gene battery whose expression is under the control of the CEH-10 and TTX-3 Paired and LIM-type homeodomains, respectively. | Paper_evidence | WBPaper00005138 | |||||
| WBPaper00005236 | |||||||||
| WBPaper00024232 | |||||||||
| Curator_confirmed | WBPerson1843 | ||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 12 Jan 2005 00:00:00 | ||||||||
| Automated_description | Enables heparan sulfate proteoglycan binding activity; heparin binding activity; and syndecan binding activity. Involved in anatomical structure morphogenesis; embryo development; and neuron migration. Located in cell surface. Expressed in several structures, including egg-laying apparatus; excretory cell; nerve ring; neuroblasts; and neurons. Used to study Kallmann syndrome. Human ortholog(s) of this gene implicated in hypogonadotropic hypogonadism 1 with or without anosmia. Is an ortholog of human ANOS1 (anosmin 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:3614 | Homo sapiens | Paper_evidence | WBPaper00027618 | ||||
| WBPaper00005138 | |||||||||
| Accession_evidence | OMIM | 308700 | |||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 03 Apr 2013 00:00:00 | ||||||||
| Potential_model | DOID:0090094 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:6211) | |||||
| Disease_relevance | Mutations in the human gene KAL1 (encoding the Anosmin 1 protein/Adhesion molecule like, X-linked; ADMLX) are implicated in Kallmann syndrome characterized by failure of migration of the olfactory nerve cells and gonadotropin-releasing hormone producing nerve cells to their normal locations in the developing brain, resulting in impaired olfactory function (anosmia) and impaired sex hormone production, causing delayed or absence of puberty; the C. elegans genetic model has been particularly useful for elucidating KAL1 cellular level functions and interaction partners; in C. elegans, kal-1 is required for normal migration of ventral neuroblasts during embryonic epidermal morphogenesis and binds the heparin sulphate (HS) proteogylcans, syndecan/SDN-1 and glypican/GPN-1 via an HS dependent interaction; kal-1 is also involved in male tale formation and affects neurite outgrowth in vivo by modulating branching; kal-1 functions with the two 3-O-sulfotransferases, hst-3.1 and hst-3.2, that modify heparin sulphate, an extracellular matrix component that growing neurons interact with, in the generation of stereotypical neurite branches; human KAL-1 cDNA can compensate for the loss of worm kal-1 and overexpression of worm or human KAL-1 cDNAs in the worm results in the same phenotypes, indicative of the functional conservation between the human and nematode proteins. | Homo sapiens | Paper_evidence | WBPaper00039874 | |||||
| WBPaper00027618 | |||||||||
| WBPaper00005138 | |||||||||
| WBPaper00005236 | |||||||||
| Accession_evidence | OMIM | 308700 | |||||||
| 300836 | |||||||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 14 May 2014 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000125 | ||||||||
| WBDOannot00001003 | |||||||||
| WBDOannot00001004 | |||||||||
| Molecular_info | Corresponding_CDS | K03D10.1 | |||||||
| Corresponding_CDS_history | K03D10.1:wp111 | ||||||||
| Corresponding_transcript | K03D10.1.1 | ||||||||
| Other_sequence (13) | |||||||||
| Associated_feature (29) | |||||||||
| Experimental_info | RNAi_result | WBRNAi00116499 | Inferred_automatically | RNAi_primary | |||||
| WBRNAi00112239 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00049808 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00089111 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00092213 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00033914 | Inferred_automatically | RNAi_primary | |||||||
| WBRNAi00003903 | Inferred_automatically | RNAi_primary | |||||||
| Expr_pattern (11) | |||||||||
| Drives_construct | WBCnstr00001563 | ||||||||
| WBCnstr00007234 | |||||||||
| WBCnstr00010479 | |||||||||
| WBCnstr00010498 | |||||||||
| Construct_product (11) | |||||||||
| Antibody | WBAntibody00000507 | ||||||||
| Microarray_results (18) | |||||||||
| Expression_cluster (196) | |||||||||
| Interaction (80) | |||||||||
| Map_info | Map | I | Position | 23.2384 | Error | 0.032252 | |||
| Positive | Positive_clone | K03D10 | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Mapping_data | Multi_point | 4451 | |||||||
| 5270 | |||||||||
| Pseudo_map_position | |||||||||
| Reference (59) | |||||||||
| Remark | Sequence connection from [Di Schiavi E, Bazzicalupo P] | ||||||||
| 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 |
