WormBase Tree Display for Gene: WBGene00022281
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| WBGene00022281 | SMap | S_parent | Sequence | CHROMOSOME_I | |||||
|---|---|---|---|---|---|---|---|---|---|
| Identity | Version | 3 | |||||||
| Name | CGC_name | abtm-1 | Person_evidence | WBPerson4191 | |||||
| Sequence_name | Y74C10AR.3 | ||||||||
| Molecular_name | Y74C10AR.3a | ||||||||
| Y74C10AR.3a.1 | |||||||||
| CE37072 | |||||||||
| Y74C10AR.3b | |||||||||
| CE49984 | |||||||||
| Y74C10AR.3c | |||||||||
| CE49914 | |||||||||
| Y74C10AR.3b.1 | |||||||||
| Y74C10AR.3c.1 | |||||||||
| Other_name | CELE_Y74C10AR.3 | Accession_evidence | NDB | BX284601 | |||||
| Public_name | abtm-1 | ||||||||
| DB_info | Database | AceView | gene | 1D44 | |||||
| WormFlux | gene | WBGene00022281 | |||||||
| NDB | locus_tag | CELE_Y74C10AR.3 | |||||||
| Panther | gene | CAEEL|WormBase=WBGene00022281|UniProtKB=G4SRS5 | |||||||
| family | PTHR24221 | ||||||||
| NCBI | gene | 171807 | |||||||
| RefSeq | protein | NM_001026659.3 | |||||||
| NM_001393067.1 | |||||||||
| NM_001306377.3 | |||||||||
| TrEMBL | UniProtAcc | G4SRS5 | |||||||
| A0A061AJH7 | |||||||||
| A0A061ACG9 | |||||||||
| UniProt_GCRP | UniProtAcc | G4SRS5 | |||||||
| OMIM | gene | 300135 | |||||||
| Species | Caenorhabditis elegans | ||||||||
| History | Version_change | 1 | 28 May 2004 13:31:05 | WBPerson1971 | Event | Imported | Initial conversion from CDS class of stlace from WS125 | ||
| 2 | 19 Jul 2004 09:54:09 | WBPerson1849 | Name_change | Sequence_name | Y74C10AM.1 -> Y74C10AR.3 | ||||
| 3 | 05 Jun 2006 09:29:59 | WBPerson2970 | Name_change | CGC_name | abtm-1 | ||||
| Status | Live | ||||||||
| Gene_info | Biotype | SO:0001217 | |||||||
| Gene_class | abtm | ||||||||
| Allele (498) | |||||||||
| Strain | WBStrain00007401 | ||||||||
| WBStrain00007403 | |||||||||
| WBStrain00007404 | |||||||||
| WBStrain00007405 | |||||||||
| WBStrain00007406 | |||||||||
| RNASeq_FPKM (74) | |||||||||
| GO_annotation (16) | |||||||||
| Contained_in_operon | CEOP1920 | ||||||||
| Ortholog (42) | |||||||||
| Paralog (23) | |||||||||
| Structured_description | Concise_description | abtm-1 encodes a protein orthologous to the highly conserved ABCB7 protein and has the typical ABC superfamily structure with six transmembrane domains and an ATP binding domain; ABCB7 is involved in the transport of iron-sulphur clusters into the cytoplasm and thus in iron homeostasis; abtm-1 is an essential gene and knock-down of abtm-1 via RNA interference results in pleiotropic phenotypes that include partial embryonic lethality, morphogenetic defects, premature apoptosis, increase in total iron content and daf-16/FOXO-dependent increase in life-span; ABTM-1 is a widely expressed mitochondrial protein. | Paper_evidence | WBPaper00038292 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| WBPerson1823 | |||||||||
| WBPerson567 | |||||||||
| Date_last_updated | 13 Sep 2011 00:00:00 | ||||||||
| Automated_description | Predicted to enable ATPase-coupled transmembrane transporter activity. Involved in intracellular iron ion homeostasis. Located in mitochondrion. Expressed in coelomocyte; hypodermis; intestine; and spermatheca. Used to study X-linked sideroblastic anemia with ataxia. Human ortholog(s) of this gene implicated in X-linked sideroblastic anemia with ataxia. Is an ortholog of human ABCB7 (ATP binding cassette subfamily B member 7). | 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:0050554 | Homo sapiens | Paper_evidence | WBPaper00038292 | ||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 04 Feb 2019 00:00:00 | ||||||||
| Potential_model | DOID:8955 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:48) | |||||
| DOID:0050554 | Homo sapiens | Inferred_automatically | Inferred by orthology to human genes with DO annotation (HGNC:48) | ||||||
| Disease_relevance | abtm-1 encodes a protein orthologous to the highly conserved human gene ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7), which is involved in the transport of iron-sulphur clusters into the cytoplasm and thus in iron homeostasis; ABCB7, when mutated leads to X-linked sideroblastic anemia with ataxia (XLSA/A), which is a mitochondrial disease; the heme synthesis pathway is also affected which is responsible for the anemia; knock-down of abtm-1 in elegans recapitulates the partial-loss of function found in XLSA/A patients. | Homo sapiens | Paper_evidence | WBPaper00038292 | |||||
| Curator_confirmed | WBPerson324 | ||||||||
| Date_last_updated | 21 Sep 2011 00:00:00 | ||||||||
| Models_disease_asserted | WBDOannot00000009 | ||||||||
| Molecular_info | Corresponding_CDS | Y74C10AR.3a | |||||||
| Y74C10AR.3b | |||||||||
| Y74C10AR.3c | |||||||||
| Corresponding_CDS_history | Y74C10AM.1:wp82 | ||||||||
| Y74C10AM.1:wp127 | |||||||||
| Corresponding_transcript | Y74C10AR.3a.1 | ||||||||
| Y74C10AR.3b.1 | |||||||||
| Y74C10AR.3c.1 | |||||||||
| Other_sequence (48) | |||||||||
| Associated_feature | WBsf648973 | ||||||||
| WBsf648974 | |||||||||
| WBsf663953 | |||||||||
| WBsf982879 | |||||||||
| WBsf219037 | |||||||||
| WBsf219038 | |||||||||
| Experimental_info | RNAi_result (22) | ||||||||
| Expr_pattern | Expr9215 | ||||||||
| Expr1022502 | |||||||||
| Expr1039832 | |||||||||
| Expr1161829 | |||||||||
| Expr2009098 | |||||||||
| Expr2027334 | |||||||||
| Drives_construct | WBCnstr00013804 | ||||||||
| Microarray_results (27) | |||||||||
| Expression_cluster (69) | |||||||||
| Interaction | WBInteraction000504784 | ||||||||
| WBInteraction000504785 | |||||||||
| WBInteraction000521766 | |||||||||
| WBInteraction000521767 | |||||||||
| WBInteraction000563180 | |||||||||
| WBInteraction000563604 | |||||||||
| WBInteraction000583553 | |||||||||
| WBInteraction000585646 | |||||||||
| WBInteraction000586562 | |||||||||
| Map_info | Map | I | Position | -8.54167 | Error | 0.030124 | |||
| Positive | Positive_clone | Y74C10AM | Inferred_automatically | From sequence, transcript, pseudogene data | |||||
| Y74C10AR | Inferred_automatically | From sequence, transcript, pseudogene data | |||||||
| Pseudo_map_position | |||||||||
| Reference | WBPaper00033238 | ||||||||
| WBPaper00038292 | |||||||||
| WBPaper00038491 | |||||||||
| WBPaper00042659 | |||||||||
| WBPaper00048226 | |||||||||
| WBPaper00055090 | |||||||||
| WBPaper00062979 | |||||||||
| 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 |
