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    FHL1 four and a half LIM domains 1 [ Homo sapiens (human) ]

    Gene ID: 2273, updated on 15-Jul-2015
    Official Symbol
    FHL1provided by HGNC
    Official Full Name
    four and a half LIM domains 1provided by HGNC
    Primary source
    HGNC:HGNC:3702
    See related
    Ensembl:ENSG00000022267; HPRD:02157; MIM:300163; Vega:OTTHUMG00000022504
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KYOT; SLIM; FHL-1; FHL1A; FHL1B; FLH1A; SLIM1; XMPMA; SLIM-1; SLIMMER
    Summary
    This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]
    Orthologs
    See FHL1 in Epigenomics, MapViewer
    Location:
    Xq26
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (136146702..136211359)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (135228861..135293518)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 Neighboring gene E2F transcription factor 6 pseudogene 4 Neighboring gene MAP7 domain containing 3 Neighboring gene serine/threonine kinase 24 pseudogene 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC111107

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    four and a half LIM domains protein 1
    Names
    LIM protein SLIMMER
    four-and-a-half Lin11, Isl-1 and Mec-3 domains 1
    skeletal muscle LIM-protein 1

    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.

    Genomic

    1. NG_015895.1 RefSeqGene

      Range
      4303..68960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159699.1NP_001153171.1  four and a half LIM domains protein 1 isoform 5

      See identical proteins and their annotated locations for NP_001153171.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, 3' UTR, and 3' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 5) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      BC088369, BM995585, DC373386
      Consensus CDS
      CCDS55506.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000359717, OTTHUMP00000024100, ENST00000370683, OTTHUMT00000058463
      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
    2. NM_001159700.1NP_001153172.1  four and a half LIM domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001153172.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).
      Source sequence(s)
      AK304680, AL078638, BC088369, BM995585, DC363191
      Consensus CDS
      CCDS14655.1
      UniProtKB/TrEMBL
      B7Z9A1
      UniProtKB/Swiss-Prot
      Q13642
      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
    3. NM_001159701.1NP_001153173.1  four and a half LIM domains protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001153173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, 3' UTR, and coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AK301642, BC010998, BM995585, DC373304
      Consensus CDS
      CCDS55505.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000437673, OTTHUMP00000278523, ENST00000539015, OTTHUMT00000481744
      Conserved Domains (5) summary
      cd09344
      Location:69122
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09348
      Location:246309
      LIM4_FHL1; The fourth LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09424
      Location:130187
      LIM2_FHL1; The second LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cd09429
      Location:191243
      LIM3_FHL1; The third LIM domain of Four and a half LIM domains protein 1 (FHL1)
      cl02475
      Location:3462
      LIM; LIM is a small protein-protein interaction domain, containing two zinc fingers
    4. NM_001159702.2NP_001153174.1  four and a half LIM domains protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001153174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AF063002, AF098518, BC010998, BM995585, DA497183
      Consensus CDS
      CCDS55507.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000377710, ENST00000394155
      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. NM_001159703.1NP_001153175.1  four and a half LIM domains protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001153175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding region, compared to variant 1. The encoded protein (isoform 4) is shorter than isoform 1.
      Source sequence(s)
      AF220153, AK301642, AL078638, BC010998, BE965488, BM995585, DA497183
      Consensus CDS
      CCDS76036.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000477609, OTTHUMP00000278534, ENST00000618438, OTTHUMT00000481754
      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
    6. NM_001159704.1NP_001153176.1  four and a half LIM domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001153176.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).
      Source sequence(s)
      AK122708, AL078638, BM995585
      Consensus CDS
      CCDS14655.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000443333, OTTHUMP00000278522, ENST00000543669, OTTHUMT00000481743
      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
    7. NM_001167819.1NP_001161291.1  four and a half LIM domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001161291.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) uses a different segment for its 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).
      Source sequence(s)
      BC010998, BM995585, DA917361, DA982372
      Consensus CDS
      CCDS14655.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000377709, ENST00000394153
      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
    8. NM_001449.4NP_001440.2  four and a half LIM domains protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001440.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The encoded protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Variants 2, 3, 4 and 9 encode the same protein (isoform 2).
      Source sequence(s)
      BC010998, BM995585, DA497183
      Consensus CDS
      CCDS14655.1
      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000359724, OTTHUMP00000024097, ENST00000370690, OTTHUMT00000058460
      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

    RNA

    1. NR_027621.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) includes an additional exon at the 5' end, compared to variant 1. This variant is represented as non-coding because it contains an upstream ORF that is predicted to interfere with translation of the downstream expected ORF as used in variant 1.
      Source sequence(s)
      AK289411, AL078638, BC010998, BM995585

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      136146702..136211359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006724744.2XP_006724807.1  

      See identical proteins and their annotated locations for XP_006724807.1

      UniProtKB/Swiss-Prot
      Q13642
      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. XM_006724745.2XP_006724808.1  

      See identical proteins and their annotated locations for XP_006724808.1

      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000071281, OTTHUMP00000024098, ENST00000345434, OTTHUMT00000058461
      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
    3. XM_006724743.2XP_006724806.1  

      See identical proteins and their annotated locations for XP_006724806.1

      Conserved Domains (4) summary
      cd09344
      Location:56109
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      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
    4. XM_011531316.1XP_011529618.1  

      See identical proteins and their annotated locations for XP_011529618.1

      UniProtKB/TrEMBL
      Q5JXI2
      Conserved Domains (3) summary
      cd09344
      Location:56109
      LIM1_FHL1; The first LIM domain of Four and a half LIM domains protein 1
      cd09424
      Location:117174
      LIM2_FHL1; The second 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
    5. XM_006724746.2XP_006724809.1  

      See identical proteins and their annotated locations for XP_006724809.1

      UniProtKB/Swiss-Prot
      Q13642
      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
    6. XM_006724747.2XP_006724810.1  

      See identical proteins and their annotated locations for XP_006724810.1

      UniProtKB/Swiss-Prot
      Q13642
      Related
      ENSP00000486782, OTTHUMP00000278524, ENST00000628568, OTTHUMT00000481745
      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      135139444..135204087
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)