Format

Send to:

Choose Destination

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

Gene ID: 2273, updated on 8-Jul-2018
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 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; FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; SLIM1; XMPMA; RBMX1A; RBMX1B; 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]
Expression
Broad expression in heart (RPKM 286.6), fat (RPKM 281.6) and 18 other tissues See more
Orthologs
See FHL1 in Genome Data Viewer
Location:
Xq26.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
    Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
    Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
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 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
focal adhesion HDA 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
    5001..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
    ENSP00000359717.1, OTTHUMP00000024100, ENST00000370683.5, 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/Swiss-Prot
    Q13642
    UniProtKB/TrEMBL
    B7Z9A1
    Related
    ENSP00000485897.1, OTTHUMP00000278518, ENST00000630084.2, OTTHUMT00000481739
    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
    ENSP00000437673.1, OTTHUMP00000278523, ENST00000539015.5, 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
    ENSP00000377710.2, ENST00000394155.6
    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
    ENSP00000477609.1, OTTHUMP00000278534, ENST00000618438.4, 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
    ENSP00000443333.1, OTTHUMP00000278522, ENST00000543669.5, 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
    ENSP00000377709.2, ENST00000394153.6
    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_001330659.1NP_001317588.1  four and a half LIM domains protein 1 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) uses an alternate 5'-terminal exon, lacks two in-frame exons in the 3' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (6) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL078638
    Consensus CDS
    CCDS83493.1
    UniProtKB/TrEMBL
    Q5JXI2
    Related
    ENSP00000359710.3, ENST00000370676.7
    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
  9. 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
    ENSP00000359724.3, OTTHUMP00000024097, ENST00000370690.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006724744.3XP_006724807.1  four and a half LIM domains protein 1 isoform X2

    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_017029357.2XP_016884846.1  four and a half LIM domains protein 1 isoform X3

    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. XM_024452353.1XP_024308121.1  four and a half LIM domains protein 1 isoform X2

    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_024452354.1XP_024308122.1  four and a half LIM domains protein 1 isoform X2

    Related
    ENSP00000071281.6, ENST00000345434.7
    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_024452355.1XP_024308123.1  four and a half LIM domains protein 1 isoform X3

    Related
    ENSP00000444815.1, ENST00000535737.5
  6. XM_006724745.4XP_006724808.1  four and a half LIM domains protein 1 isoform X2

    See identical proteins and their annotated locations for XP_006724808.1

    UniProtKB/Swiss-Prot
    Q13642
    Related
    OTTHUMP00000024098
    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
  7. XM_006724743.2XP_006724806.1  four and a half LIM domains protein 1 isoform X1

    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
  8. XM_006724746.3XP_006724809.1  four and a half LIM domains protein 1 isoform X2

    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
  9. XM_006724747.3XP_006724810.1  four and a half LIM domains protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006724810.1

    UniProtKB/Swiss-Prot
    Q13642
    Related
    ENSP00000359708.1, OTTHUMP00000024102, ENST00000370674.3
    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
Support Center