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    Fhl1 four and a half LIM domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 14199, updated on 28-Oct-2024

    Summary

    Official Symbol
    Fhl1provided by MGI
    Official Full Name
    four and a half LIM domains 1provided by MGI
    Primary source
    MGI:MGI:1298387
    See related
    Ensembl:ENSMUSG00000023092 AllianceGenome:MGI:1298387
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    KyoT; SLIM; FHL-1; SLIM-1; RAM14-1
    Summary
    Predicted to enable transmembrane transporter binding activity. Predicted to be involved in several processes, including negative regulation of mitotic cell cycle phase transition; regulation of membrane depolarization; and regulation of potassium ion transport. Predicted to be located in cytosol; nucleus; and plasma membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study scapuloperoneal myopathy. Human ortholog(s) of this gene implicated in Uruguay faciocardiomusculoskeletal syndrome; X-linked Emery-Dreifuss muscular dystrophy 6; reducing body myopathy 1A; and reducing body myopathy 1B. Orthologous to human FHL1 (four and a half LIM domains 1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in bladder adult (RPKM 335.4), lung adult (RPKM 134.7) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Fhl1 in Genome Data Viewer
    Location:
    X A6; X 30.06 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (55776569..55838704)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (56731209..56793346)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 36289 Neighboring gene predicted gene, 26312 Neighboring gene predicted gene, 23258 Neighboring gene MAP7 domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_47209 Neighboring gene STARR-seq mESC enhancer starr_47210 Neighboring gene adhesion G protein-coupled receptor G4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane transporter binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmembrane transporter binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    four and a half LIM domains protein 1
    Names
    RBP-associated molecule 14-1
    skeletal muscle LIM-protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001077361.2NP_001070829.1  four and a half LIM domains protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001070829.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL671998
      Consensus CDS
      CCDS40981.1
      UniProtKB/TrEMBL
      A2AEY2
      Related
      ENSMUSP00000110417.3, ENSMUST00000114769.9
      Conserved Domains (4) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    2. NM_001077362.3NP_001070830.1  four and a half LIM domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001070830.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' and 3' UTRs and lacks an exon in the 3' coding region resulting in a translational frameshift compared to variant 1. The encoded protein (isoform 2) has a longer N-terminus, a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL671998
      Consensus CDS
      CCDS40980.1
      UniProtKB/TrEMBL
      A2AEX6, A2AEX8
      Related
      ENSMUSP00000110420.3, ENSMUST00000114772.9
      Conserved Domains (5) summary
      cd09344
      Location:56109
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09348
      Location:233296
      LIM4_FHL1; The fourth LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09424
      Location:117174
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:178230
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:2149
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    3. NM_001287800.2NP_001274729.1  four and a half LIM domains protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001274729.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the use of an alternate promoter, differs in the 5' and 3' UTRs and lacks an exon in the 3' coding region resulting in a translational frameshift compared to variant 1. The encoded protein (isoform 3, also known as KyoT1) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 4 encode the same protein.
      Source sequence(s)
      AL671998
      Consensus CDS
      CCDS30148.1
      UniProtKB/Swiss-Prot
      O55181, P97447, Q8K318
      UniProtKB/TrEMBL
      A2AEX6
      Related
      ENSMUSP00000110421.4, ENSMUST00000114773.10
      Conserved Domains (5) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09348
      Location:217280
      LIM4_FHL1; The fourth LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    4. NM_001412079.1NP_001399008.1  four and a half LIM domains protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671998
      UniProtKB/TrEMBL
      A2AEY2
    5. NM_001412080.1NP_001399009.1  four and a half LIM domains protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671998
      UniProtKB/TrEMBL
      A2AEY2
    6. NM_001412081.1NP_001399010.1  four and a half LIM domains protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL671998
      UniProtKB/TrEMBL
      A2AEY2
    7. NM_001412082.1NP_001399011.1  four and a half LIM domains protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL671998
      UniProtKB/Swiss-Prot
      O55181, P97447, Q8K318
      Related
      ENSMUSP00000112295.2, ENSMUST00000116596.8
    8. NM_001412083.1NP_001399012.1  four and a half LIM domains protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL671998
    9. NM_001412084.1NP_001399013.1  four and a half LIM domains protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL671998
    10. NM_001412085.1NP_001399014.1  four and a half LIM domains protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL671998
      UniProtKB/TrEMBL
      A2AEX7
      Related
      ENSMUSP00000110416.4, ENSMUST00000114768.10
    11. NM_001412086.1NP_001399015.1  four and a half LIM domains protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL671998
    12. NM_001412087.1NP_001399016.1  four and a half LIM domains protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL671998
    13. NM_001412088.1NP_001399017.1  four and a half LIM domains protein 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL671998
    14. NM_010211.4NP_034341.2  four and a half LIM domains protein 1 isoform 3

      See identical proteins and their annotated locations for NP_034341.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and lacks an exon in the 3' coding region resulting in a translational frameshift compared to variant 1. The encoded protein (isoform 3, also known as KyoT1) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 4 encode the same protein.
      Source sequence(s)
      AL671998
      Consensus CDS
      CCDS30148.1
      UniProtKB/Swiss-Prot
      O55181, P97447, Q8K318
      UniProtKB/TrEMBL
      A2AEX6
      Related
      ENSMUSP00000023854.4, ENSMUST00000023854.10
      Conserved Domains (5) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09348
      Location:217280
      LIM4_FHL1; The fourth LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      55776569..55838704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251223.2XP_030107083.1  four and a half LIM domains protein 1 isoform X3

      UniProtKB/Swiss-Prot
      O55181, P97447, Q8K318
      UniProtKB/TrEMBL
      A2AEX6
      Conserved Domains (5) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09348
      Location:217280
      LIM4_FHL1; The fourth LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    2. XM_030251225.2XP_030107085.1  four and a half LIM domains protein 1 isoform X5

      Conserved Domains (3) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    3. XM_006527805.3XP_006527868.1  four and a half LIM domains protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006527868.1

      UniProtKB/TrEMBL
      A2AEY2
      Conserved Domains (4) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    4. XM_006527807.2XP_006527870.2  four and a half LIM domains protein 1 isoform X4

      UniProtKB/TrEMBL
      A2AEY1
      Related
      ENSMUSP00000116725.2, ENSMUST00000144600.8
      Conserved Domains (4) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    5. XM_006527804.2XP_006527867.1  four and a half LIM domains protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006527867.1

      UniProtKB/TrEMBL
      A2AEY2
      Conserved Domains (4) summary
      cd09344
      Location:4093
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:101158
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:162214
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:533
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers