WormBase Tree Display for Gene: WBGene00022816

WBGene00022816 SMap: S_parent: Sequence: CHROMOSOME_III
  Identity: Version: 3
    Name: CGC_name: fbn-1 Person_evidence: WBPerson545
            WBPerson3379
            WBPerson1983
      Sequence_name: ZK783.1
      Molecular_name (27)
      Other_name: let-821
        cpg-16 Paper_evidence: WBPaper00053350
        CELE_ZK783.1 Accession_evidence: NDB BX284603
      Public_name: fbn-1
    DB_info: Database: AceView gene 3I729
        WormQTL gene WBGene00022816
        WormFlux gene WBGene00022816
        OMIM disease 154700
          gene 134797
            612570
        NDB locus_tag CELE_ZK783.1
        Panther gene CAEEL|WormBase=WBGene00022816|UniProtKB=I6Z0I7
          family PTHR24039
        NCBI gene 176076
        RefSeq protein NM_001276783.3
            NM_001276787.4
            NM_001276782.4
            NM_001276789.4
            NM_001276785.3
            NM_001276780.3
            NM_001276786.3
            NM_066269.6
            NM_001276788.3
        TrEMBL UniProtAcc I7J4C9
            I7LFE6
            I7K4J6
            I7LHV9
            I7J4C8
            Q23587
            I6Z0I7
            I7K4J2
            I7LHV8
        UniProt_GCRP UniProtAcc I6Z0I7
    Species: Caenorhabditis elegans
    History: Version_change: 1 28 May 2004 13:31:06 WBPerson1971 Event: Imported: Initial conversion from CDS class of stlace from WS125
        2 28 Jul 2005 14:07:57 WBPerson2970 Name_change: CGC_name: fbn-1
        3 20 May 2019 14:10:26 WBPerson1983 Name_change: CGC_name: fbn-1
                Other_name: let-821
    Status: Live
  Gene_info: Biotype: SO:0001217
    Gene_class: fbn
    Allele: WBVar02148777
      WBVar02148459
      WBVar02148460
      WBVar02148776
      WBVar00260202
      WBVar01330995
      WBVar01330997
      WBVar01500260
      WBVar00065943
      WBVar00249339
      WBVar00065958
      WBVar01489423
      WBVar00065978
      WBVar00297272
      WBVar00297273
      WBVar01628825
      WBVar01628826
      WBVar01628827
      WBVar00563999
      WBVar00564000
      WBVar01837949
      WBVar01837950
      WBVar01837951
      WBVar01837952
      WBVar01837953
      WBVar01837954
      WBVar01837955
      WBVar00060970
      WBVar01837956
      WBVar01837957
      WBVar01837958
      WBVar01837959
      WBVar00060975
      WBVar01837960
      WBVar01837961
      WBVar01837962
      WBVar00060980
      WBVar01446804
      WBVar01837963
      WBVar01265664
      WBVar01265671
      WBVar01837964
      WBVar00060985
      WBVar01837965
      WBVar00401862
      WBVar00840054
      WBVar00401863
      WBVar00060990
      WBVar00401864
      WBVar00840055
      WBVar00401865
      WBVar00840056
      WBVar00840057
      WBVar00401866
      WBVar02132290
      WBVar00840058
      WBVar02132291
      WBVar00401867
      WBVar00401868
      WBVar00840059
      WBVar00840060
      WBVar00061000
      WBVar00401869
      WBVar01499774
      WBVar00401870
      WBVar00840061
      WBVar00401871
      WBVar00840062
      WBVar00401872
      WBVar00840063
      WBVar00401873
      WBVar00840064
      WBVar00840065
      WBVar00401874
      WBVar00061009
      WBVar00840066
      WBVar00401875
      WBVar00401876
      WBVar00840067
      WBVar00061014
      WBVar00840068
      WBVar00401877
      WBVar00401878
      WBVar00840069
      WBVar00401879
      WBVar00840070
      WBVar00401880
      WBVar00840071
      WBVar00840072
      WBVar00401881
      WBVar00401882
      WBVar00840073
      WBVar00061024
      WBVar00401883
      WBVar00840074
      WBVar00840075
      WBVar00401884
      WBVar00840076
      WBVar01607118
      WBVar00401885
      WBVar00840077
      WBVar00401886
      WBVar00401887
      WBVar00840078
      WBVar00840079
      WBVar00401888
      WBVar00061034
      WBVar00401889
      WBVar00840080
      WBVar00840081
      WBVar00401890
      WBVar01896356
      WBVar00840082
      WBVar00401891
      WBVar00401892
      WBVar00840083
      WBVar00061039
      WBVar00840084
      WBVar00401893
      WBVar00840085
      WBVar00401894
      WBVar00401895
      WBVar00840086
      WBVar00840087
      WBVar00840088
      WBVar00840089
      WBVar00840090
      WBVar00840091
      WBVar00840092
      WBVar00840093
      WBVar00840094
      WBVar00840095
      WBVar00840096
      WBVar00840097
      WBVar00840098
      WBVar00840099
      WBVar00840100
      WBVar00840101
      WBVar00840102
      WBVar00840103
      WBVar00840104
      WBVar00840105
      WBVar00840106
      WBVar00840107
      WBVar00840108
      WBVar00840109
      WBVar00840110
      WBVar00840111
      WBVar00840112
      WBVar00840113
      WBVar00840114
      WBVar00840115
      WBVar00840116
      WBVar00840117
      WBVar00840118
      WBVar00840119
      WBVar00304302
      WBVar00840120
      WBVar00840121
      WBVar00840122
      WBVar01479962
      WBVar00840123
      WBVar00840124
      WBVar00840125
      WBVar00840126
      WBVar00840127
      WBVar00840128
      WBVar00840129
      WBVar00840130
      WBVar00840131
      WBVar00840132
      WBVar00840133
      WBVar00840134
      WBVar00840135
      WBVar00840136
      WBVar01893613
      WBVar00840137
      WBVar00840138
      WBVar00840139
      WBVar00840140
      WBVar00840141
      WBVar00840142
      WBVar00840143
      WBVar00840144
      WBVar00840145
      WBVar00840146
      WBVar00840147
      WBVar00840148
      WBVar00840149
      WBVar00840150
      WBVar00840151
      WBVar01645496
      WBVar00840152
      WBVar00840153
      WBVar01645497
      WBVar00840154
      WBVar00840155
      WBVar00840156
      WBVar00840157
      WBVar02053372
      WBVar02053373
      WBVar02053374
      WBVar01566905
      WBVar01566906
      WBVar01330982
      WBVar01330992
      WBVar01330993
    Strain: WBStrain00054908
    RNASeq_FPKM (74)
    GO_annotation: 00023935
      00126798
    Ortholog (39)
    Paralog: WBGene00003173 Caenorhabditis elegans From_analysis: Panther
      WBGene00003482 Caenorhabditis elegans From_analysis: Panther
      WBGene00003497 Caenorhabditis elegans From_analysis: Panther
      WBGene00007170 Caenorhabditis elegans From_analysis: Panther
      WBGene00001106 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00004963 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00009114 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00010134 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00013498 Caenorhabditis elegans From_analysis: WormBase-Compara
      WBGene00013855 Caenorhabditis elegans From_analysis: WormBase-Compara
    Structured_description: Concise_description: fbn-1 encodes a protein homologous to the human extracellular matrix protein fibrillin-1 (FBN1); in C. elegans, fbn-1 activity is required for completion of molting, particularly the L3/L4 or L4/Adult molts. Paper_evidence: WBPaper00004103
            WBPaper00026763
          Curator_confirmed: WBPerson1843
            WBPerson567
          Date_last_updated: 18 Jul 2007 00:00:00
      Automated_description: Predicted to enable calcium ion binding activity. Predicted to be located in membrane. Expressed in vulval cell. Used to study connective tissue disease. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; aortic disease (multiple); and bone disease (multiple). Is an ortholog of human FBN1 (fibrillin 1); FBN2 (fibrillin 2); and FBN3 (fibrillin 3). 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:65 Homo sapiens Paper_evidence: WBPaper00046588
          Curator_confirmed: WBPerson324
          Date_last_updated: 26 Oct 2018 00:00:00
    Potential_model (13)
    Disease_relevance: Mutations in the human extracellular matrix protein fibrillin-1 (FBN1) lead to Marfan syndrome and several other disorders of connective tissue and skin; Both Marfan and Weill-Marchesani syndromes are characterized by abnormalities in connective tissue leading to heart, eye and skeletal abnormalities; FBN1 gene mutations also cause acromicric dysplasia characterized by severely short stature, short limbs and stiff joints; FBN1 gene mutations also cause MASS syndrome, involving abnormalities of the mitral heart valve, aorta, skeleton and skin; FBN1 gene mutations may also be involved in Shprintzen-Goldberg syndrome in infants which involves premature fusion of certain bones of the skull, and skeletal and skin abnormalities; in elegans mutations in fbn-1/fibrillin1 cause defects in molting. Homo sapiens Paper_evidence: WBPaper00026763
          Accession_evidence: OMIM 154700
              134797
          Curator_confirmed: WBPerson324
          Date_last_updated: 09 Dec 2013 00:00:00
  Models_disease_asserted: WBDOannot00000253
  Molecular_info: Corresponding_CDS: ZK783.1a
      ZK783.1b
      ZK783.1d
      ZK783.1e
      ZK783.1f
      ZK783.1g
      ZK783.1h
      ZK783.1j
      ZK783.1k
    Corresponding_CDS_history: ZK783.1:wp206
      ZK783.1i:wp275
    Corresponding_transcript: ZK783.1a.1
      ZK783.1b.1
      ZK783.1d.1
      ZK783.1e.1
      ZK783.1f.1
      ZK783.1g.1
      ZK783.1h.1
      ZK783.1j.1
      ZK783.1k.1
    Other_sequence (20)
    Associated_feature (22)
  Experimental_info: RNAi_result (22)
    Expr_pattern: Expr15951
      Expr1025080
      Expr1040095
      Expr1163127
      Expr2011446
      Expr2029684
    Drives_construct: WBCnstr00042617
    Construct_product: WBCnstr00014819
      WBCnstr00042617
    Microarray_results (30)
    Expression_cluster (280)
    Interaction (23)
  Map_info: Map: III Position: -0.655224 Error: 0.002689
    Positive: Positive_clone: ZK783 Inferred_automatically: From sequence, transcript, pseudogene data
    Mapping_data: Multi_point: 5355
        4789
    Pseudo_map_position
  Reference (19)
  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