UniProtKB - Q13642 (FHL1_HUMAN)
Protein
Four and a half LIM domains protein 1
Gene
FHL1
Organism
Homo sapiens (Human)
Status
Functioni
May have an involvement in muscle development or hypertrophy.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 7 – 31 | C4-typeSequence analysisAdd BLAST | 25 |
GO - Molecular functioni
- ion channel binding Source: BHF-UCL
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- animal organ morphogenesis Source: UniProtKB
- cell differentiation Source: UniProtKB-KW
- muscle organ development Source: UniProtKB
- negative regulation of cell growth Source: UniProtKB
- negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
- negative regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
- positive regulation of potassium ion transport Source: BHF-UCL
- regulation of membrane depolarization Source: BHF-UCL
- regulation of potassium ion transmembrane transporter activity Source: BHF-UCL
Keywordsi
Molecular function | Developmental protein |
Biological process | Differentiation |
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q13642 |
SIGNORi | Q13642 |
Names & Taxonomyi
Protein namesi | Recommended name: Four and a half LIM domains protein 1Short name: FHL-1 Alternative name(s): Skeletal muscle LIM-protein 1 Short name: SLIM Short name: SLIM-1 |
Gene namesi | Name:FHL1 Synonyms:SLIM1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000022267.16 |
HGNCi | HGNC:3702, FHL1 |
MIMi | 300163, gene |
neXtProti | NX_Q13642 |
Subcellular locationi
Other locations
Cytosol
- cytosol Source: HPA
Nucleus
- nucleus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: BHF-UCL
Other locations
- cytoplasm Source: UniProtKB
- focal adhesion Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Emery-Dreifuss muscular dystrophy 6, X-linked (EDMD6)2 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionA form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075357 | 209 | C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149Ensembl. | 1 | |
Natural variantiVAR_075358 | 276 | C → Y in EDMD6; drastically reduced protein levels in muscle. 1 Publication | 1 |
Scapuloperoneal myopathy, X-linked dominant (SPM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_042603 | 122 | W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140Ensembl. | 1 | |
Natural variantiVAR_076566 | 154 | H → P in SPM. 1 Publication | 1 |
Myopathy, X-linked, with postural muscle atrophy (XMPMA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA progressive muscular dystrophy with onset in adulthood. Affected individuals develop a proximal myopathy characterized by specific atrophy of postural muscles, limited neck flexion, bent spine, contractures of the Achilles tendon, respiratory problems, and cardiomyopathy. Patients may show muscle hypertrophy in the early stages of the disorder.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_042604 | 128 | T → TI in XMPMA. 1 Publication | 1 | ||
Natural variantiVAR_042605 | 224 | C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141Ensembl. | 1 | ||
Natural variantiVAR_075359 | 280 | V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811Ensembl. | 1 | ||
Isoform 1 (identifier: Q13642-1) | |||||
Natural variantiVAR_082844 | 246 | H → Y in XMPMA, unknown pathological significance. 1 Publication | 1 |
Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset (RBMX1A)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075350 | 101 | C → F in RBMX1A; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_075353 | 123 | H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812Ensembl. | 1 | |
Natural variantiVAR_075354 | 123 | H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813Ensembl. | 1 | |
Natural variantiVAR_045999 | 123 | H → Y in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458142Ensembl. | 1 | |
Natural variantiVAR_046000 | 132 | C → F in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458143Ensembl. | 1 | |
Natural variantiVAR_075356 | 150 | C → Y in RBMX1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459146Ensembl. | 1 |
Reducing body myopathy, X-linked 1B, with late childhood or adult onset (RBMX1B)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075351 | 102 – 104 | Missing in RBMX1B; unknown pathological significance. 1 Publication | 3 | |
Natural variantiVAR_075352 | 104 | C → R in RBMX1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459147Ensembl. | 1 | |
Natural variantiVAR_075355 | 150 | C → S in RBMX1B. 1 Publication | 1 | |
Natural variantiVAR_046001 | 153 | C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144Ensembl. | 1 | |
Natural variantiVAR_046002 | 153 | C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145Ensembl. | 1 |
Uruguay faciocardiomusculoskeletal syndrome (FCMSU)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive syndrome characterized by brachyturricephaly, pugilistic coarse facies, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis.
Related information in OMIMKeywords - Diseasei
Disease mutation, Emery-Dreifuss muscular dystrophyOrganism-specific databases
DisGeNETi | 2273 |
GeneReviewsi | FHL1 |
MalaCardsi | FHL1 |
MIMi | 300280, phenotype 300695, phenotype 300696, phenotype 300717, phenotype 300718, phenotype |
OpenTargetsi | ENSG00000022267 |
Orphaneti | 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy 97239, Reducing body myopathy 98863, X-linked Emery-Dreifuss muscular dystrophy 178461, X-linked myopathy with postural muscle atrophy 431272, X-linked scapuloperoneal muscular dystrophy |
PharmGKBi | PA28141 |
Miscellaneous databases
Pharosi | Q13642, Tbio |
Polymorphism and mutation databases
BioMutai | FHL1 |
DMDMi | 59800384 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000075735 | 2 – 323 | Four and a half LIM domains protein 1Add BLAST | 322 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 4 | N6-acetyllysineBy similarity | 1 | |
Cross-linki | 86 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Ubl conjugationProteomic databases
jPOSTi | Q13642 |
MassIVEi | Q13642 |
PaxDbi | Q13642 |
PeptideAtlasi | Q13642 |
PRIDEi | Q13642 |
ProteomicsDBi | 59642 [Q13642-2] 59643 [Q13642-1] 59644 [Q13642-3] 59645 [Q13642-4] 59646 [Q13642-5] |
TopDownProteomicsi | Q13642-1 [Q13642-1] |
PTM databases
iPTMneti | Q13642 |
PhosphoSitePlusi | Q13642 |
SwissPalmi | Q13642 |
Expressioni
Tissue specificityi
Isoform 1 is highly expressed in skeletal muscle and to a lesser extent in heart, placenta, ovary, prostate, testis, small intestine, colon and spleen. Expression is barely detectable in brain, lung, liver, kidney, pancreas, thymus and peripheral blood leukocytes. Isoform 2 is expressed in brain, skeletal muscle and to a lesser extent in heart, colon, prostate and small intestine. Isoform 3 is expressed in testis, heart and skeletal muscle.5 Publications
Developmental stagei
Elevated levels during postnatal muscle growth.1 Publication
Gene expression databases
Bgeei | ENSG00000022267, Expressed in biceps brachii and 255 other tissues |
ExpressionAtlasi | Q13642, baseline and differential |
Genevisiblei | Q13642, HS |
Organism-specific databases
HPAi | ENSG00000022267, Group enriched (skeletal muscle, tongue) |
Interactioni
Binary interactionsi
Hide detailsQ13642
With | #Exp. | IntAct |
---|---|---|
NRIP1 [P48552] | 6 | EBI-912547,EBI-746484 |
PRNP [P04156] | 3 | EBI-912547,EBI-977302 |
Isoform 2 [Q13642-2]
With | #Exp. | IntAct |
---|---|---|
PPP2CB [P62714] | 3 | EBI-8477209,EBI-1044367 |
GO - Molecular functioni
- ion channel binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 108564, 58 interactors |
CORUMi | Q13642 |
IntActi | Q13642, 34 interactors |
MINTi | Q13642 |
STRINGi | 9606.ENSP00000377710 |
Miscellaneous databases
RNActi | Q13642, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13642 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q13642 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 40 – 92 | LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 101 – 153 | LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST | 53 | |
Domaini | 162 – 212 | LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST | 51 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 7 – 31 | C4-typeSequence analysisAdd BLAST | 25 |
Keywords - Domaini
LIM domain, Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1704, Eukaryota |
GeneTreei | ENSGT00940000154833 |
HOGENOMi | CLU_860421_0_0_1 |
InParanoidi | Q13642 |
OMAi | EKDGHHC |
OrthoDBi | 642235at2759 |
PhylomeDBi | Q13642 |
TreeFami | TF318571 |
Family and domain databases
InterProi | View protein in InterPro IPR042997, Fhl1 IPR001781, Znf_LIM |
PANTHERi | PTHR47029, PTHR47029, 1 hit |
Pfami | View protein in Pfam PF00412, LIM, 3 hits |
SMARTi | View protein in SMART SM00132, LIM, 3 hits |
PROSITEi | View protein in PROSITE PS00478, LIM_DOMAIN_1, 3 hits PS50023, LIM_DOMAIN_2, 3 hits |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All
Isoform 2 (identifier: Q13642-2) [UniParc]FASTAAdd to basket
Also known as: FHL1B, SLIMMER
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEKFDCHYC RDPLQGKKYV QKDGHHCCLK CFDKFCANTC VECRKPIGAD
60 70 80 90 100
SKEVHYKNRF WHDTCFRCAK CLHPLANETF VAKDNKILCN KCTTREDSPK
110 120 130 140 150
CKGCFKAIVA GDQNVEYKGT VWHKDCFTCS NCKQVIGTGS FFPKGEDFYC
160 170 180 190 200
VTCHETKFAK HCVKCNKAIT SGGITYQDQP WHADCFVCVT CSKKLAGQRF
210 220 230 240 250
TAVEDQYYCV DCYKNFVAKK CAGCKNPITG KRTVSRVSHP VSKARKPPVC
260 270 280 290 300
HGKRLPLTLF PSANLRGRHP GGERTCPSWV VVLYRKNRSL AAPRGPGLVK
310 320
APVWWPMKDN PGTTTASTAK NAP
Computationally mapped potential isoform sequencesi
There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5JXI2 | Q5JXI2_HUMAN | Four and a half LIM domains protein... | FHL1 | 210 | Annotation score: | ||
Q5JXI8 | Q5JXI8_HUMAN | Four and a half LIM domains protein... | FHL1 | 257 | Annotation score: | ||
Q5JXH7 | Q5JXH7_HUMAN | Four and a half LIM domains protein... | FHL1 | 205 | Annotation score: | ||
Q5JXH8 | Q5JXH8_HUMAN | Four and a half LIM domains protein... | FHL1 | 204 | Annotation score: | ||
Q5JXH9 | Q5JXH9_HUMAN | Four and a half LIM domains protein... | FHL1 | 155 | Annotation score: | ||
Q5JXI0 | Q5JXI0_HUMAN | Four and a half LIM domains protein... | FHL1 | 141 | Annotation score: | ||
Q5JXI3 | Q5JXI3_HUMAN | Four and a half LIM domains protein... | FHL1 | 207 | Annotation score: | ||
A0A0D9SFB0 | A0A0D9SFB0_HUMAN | Four and a half LIM domains protein... | FHL1 | 152 | Annotation score: | ||
A0A0D9SFI6 | A0A0D9SFI6_HUMAN | Four and a half LIM domains protein... | FHL1 | 147 | Annotation score: | ||
A0A0D9SFZ9 | A0A0D9SFZ9_HUMAN | Four and a half LIM domains protein... | FHL1 | 175 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence AAH88369 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 73 | H → Q in AAC52021 (PubMed:8753811).Curated | 1 | |
Sequence conflicti | 81 – 91 | VAKDNKILCNK → CGQGQQRSCAQ in AAD21579 (PubMed:10352231).CuratedAdd BLAST | 11 | |
Sequence conflicti | 98 | S → F (PubMed:8753811).Curated | 1 | |
Sequence conflicti | 98 | S → F (PubMed:10352231).Curated | 1 | |
Sequence conflicti | 158 | F → L (PubMed:8753811).Curated | 1 | |
Sequence conflicti | 158 | F → L (PubMed:7626119).Curated | 1 | |
Sequence conflicti | 239 | H → R in AAC72390 (PubMed:10524257).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_075350 | 101 | C → F in RBMX1A; unknown pathological significance. 1 Publication | 1 | ||
Natural variantiVAR_075351 | 102 – 104 | Missing in RBMX1B; unknown pathological significance. 1 Publication | 3 | ||
Natural variantiVAR_075352 | 104 | C → R in RBMX1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459147Ensembl. | 1 | ||
Natural variantiVAR_042603 | 122 | W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140Ensembl. | 1 | ||
Natural variantiVAR_075353 | 123 | H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812Ensembl. | 1 | ||
Natural variantiVAR_075354 | 123 | H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813Ensembl. | 1 | ||
Natural variantiVAR_045999 | 123 | H → Y in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458142Ensembl. | 1 | ||
Natural variantiVAR_042604 | 128 | T → TI in XMPMA. 1 Publication | 1 | ||
Natural variantiVAR_046000 | 132 | C → F in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458143Ensembl. | 1 | ||
Natural variantiVAR_075355 | 150 | C → S in RBMX1B. 1 Publication | 1 | ||
Natural variantiVAR_075356 | 150 | C → Y in RBMX1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459146Ensembl. | 1 | ||
Natural variantiVAR_046001 | 153 | C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144Ensembl. | 1 | ||
Natural variantiVAR_046002 | 153 | C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145Ensembl. | 1 | ||
Natural variantiVAR_076566 | 154 | H → P in SPM. 1 Publication | 1 | ||
Natural variantiVAR_075357 | 209 | C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149Ensembl. | 1 | ||
Natural variantiVAR_042605 | 224 | C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141Ensembl. | 1 | ||
Natural variantiVAR_075358 | 276 | C → Y in EDMD6; drastically reduced protein levels in muscle. 1 Publication | 1 | ||
Natural variantiVAR_075359 | 280 | V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811Ensembl. | 1 | ||
Isoform 1 (identifier: Q13642-1) | |||||
Natural variantiVAR_082844 | 246 | H → Y in XMPMA, unknown pathological significance. 1 Publication | 1 | ||
Natural variantiVAR_082845 | 275 | D → N1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043162 | 1 | M → MTFYVASLALELIWMLSSPA GPSSYKVGTM in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_043404 | 1 | M → MASHRHSGPSSYKVGTM in isoform 5. 1 Publication | 1 | |
Alternative sequenceiVSP_010693 | 168 – 296 | Missing in isoform 3. 1 PublicationAdd BLAST | 129 | |
Alternative sequenceiVSP_010694 | 231 – 323 | KRTVS…AKNAP → FGKGSSVVAYEGQSWHDYCF HCKKCSVNLANKRFVFHQEQ VYCPDCAKKL in isoform 1, isoform 4 and isoform 5. 6 PublicationsAdd BLAST | 93 |
Sequence databases
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1X63 | NMR | - | A | 91-159 | [»] | |
2CUP | NMR | - | A | 40-127 | [»] | |
2CUR | NMR | - | A | 162-217 | [»] | |
2EGQ | NMR | - | A | 211-280 | [»] | |
SMRi | Q13642 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108564, 58 interactors |
CORUMi | Q13642 |
IntActi | Q13642, 34 interactors |
MINTi | Q13642 |
STRINGi | 9606.ENSP00000377710 |
PTM databases
iPTMneti | Q13642 |
PhosphoSitePlusi | Q13642 |
SwissPalmi | Q13642 |
Polymorphism and mutation databases
BioMutai | FHL1 |
DMDMi | 59800384 |
Proteomic databases
jPOSTi | Q13642 |
MassIVEi | Q13642 |
PaxDbi | Q13642 |
PeptideAtlasi | Q13642 |
PRIDEi | Q13642 |
ProteomicsDBi | 59642 [Q13642-2] 59643 [Q13642-1] 59644 [Q13642-3] 59645 [Q13642-4] 59646 [Q13642-5] |
TopDownProteomicsi | Q13642-1 [Q13642-1] |
Protocols and materials databases
Antibodypediai | 16643, 466 antibodies |
DNASUi | 2273 |
Genome annotation databases
Organism-specific databases
CTDi | 2273 |
DisGeNETi | 2273 |
EuPathDBi | HostDB:ENSG00000022267.16 |
GeneCardsi | FHL1 |
GeneReviewsi | FHL1 |
HGNCi | HGNC:3702, FHL1 |
HPAi | ENSG00000022267, Group enriched (skeletal muscle, tongue) |
MalaCardsi | FHL1 |
MIMi | 300163, gene 300280, phenotype 300695, phenotype 300696, phenotype 300717, phenotype 300718, phenotype |
neXtProti | NX_Q13642 |
OpenTargetsi | ENSG00000022267 |
Orphaneti | 155, NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy 97239, Reducing body myopathy 98863, X-linked Emery-Dreifuss muscular dystrophy 178461, X-linked myopathy with postural muscle atrophy 431272, X-linked scapuloperoneal muscular dystrophy |
PharmGKBi | PA28141 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1704, Eukaryota |
GeneTreei | ENSGT00940000154833 |
HOGENOMi | CLU_860421_0_0_1 |
InParanoidi | Q13642 |
OMAi | EKDGHHC |
OrthoDBi | 642235at2759 |
PhylomeDBi | Q13642 |
TreeFami | TF318571 |
Enzyme and pathway databases
PathwayCommonsi | Q13642 |
SIGNORi | Q13642 |
Miscellaneous databases
BioGRID-ORCSi | 2273, 4 hits in 476 CRISPR screens |
ChiTaRSi | FHL1, human |
EvolutionaryTracei | Q13642 |
GeneWikii | FHL1 |
GenomeRNAii | 2273 |
Pharosi | Q13642, Tbio |
PROi | PR:Q13642 |
RNActi | Q13642, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000022267, Expressed in biceps brachii and 255 other tissues |
ExpressionAtlasi | Q13642, baseline and differential |
Genevisiblei | Q13642, HS |
Family and domain databases
InterProi | View protein in InterPro IPR042997, Fhl1 IPR001781, Znf_LIM |
PANTHERi | PTHR47029, PTHR47029, 1 hit |
Pfami | View protein in Pfam PF00412, LIM, 3 hits |
SMARTi | View protein in SMART SM00132, LIM, 3 hits |
PROSITEi | View protein in PROSITE PS00478, LIM_DOMAIN_1, 3 hits PS50023, LIM_DOMAIN_2, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FHL1_HUMAN | |
Accessioni | Q13642Primary (citable) accession number: Q13642 Secondary accession number(s): B7Z5T4 Q9Y630 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | January 23, 2007 | |
Last modified: | December 2, 2020 | |
This is version 204 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations