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Protein

Four and a half LIM domains protein 1

Gene

FHL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May have an involvement in muscle development or hypertrophy.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri7 – 31C4-typeSequence analysisAdd BLAST25

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ13642

Names & Taxonomyi

Protein namesi
Recommended name:
Four and a half LIM domains protein 1
Short name:
FHL-1
Alternative name(s):
Skeletal muscle LIM-protein 1
Short name:
SLIM
Short name:
SLIM-1
Gene namesi
Name:FHL1
Synonyms:SLIM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000022267.16
HGNCiHGNC:3702 FHL1
MIMi300163 gene
neXtProtiNX_Q13642

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & 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.
See also OMIM:300696
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075357209C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149EnsemblClinVar.1
Natural variantiVAR_075358276C → Y in EDMD6; drastically reduced protein levels in muscle. 1 Publication1
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.
See also OMIM:300695
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042603122W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140EnsemblClinVar.1
Natural variantiVAR_076566154H → P in SPM. 1 Publication1
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.
See also OMIM:300696
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042604128T → TI in XMPMA. 1 Publication1
Natural variantiVAR_042605224C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141EnsemblClinVar.1
Natural variantiVAR_075359280V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811EnsemblClinVar.1
Isoform 1 (identifier: Q13642-1)
Natural varianti246H → Y in XMPMA, unknown pathological significance. 1 Publication1
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.
See also OMIM:300717
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075350101C → F in RBMX1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_075353123H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812EnsemblClinVar.1
Natural variantiVAR_075354123H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813EnsemblClinVar.1
Natural variantiVAR_045999123H → Y in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458142EnsemblClinVar.1
Natural variantiVAR_046000132C → F in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458143EnsemblClinVar.1
Natural variantiVAR_075356150C → Y in RBMX1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459146EnsemblClinVar.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.
See also OMIM:300718
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075351102 – 104Missing in RBMX1B; unknown pathological significance. 1 Publication3
Natural variantiVAR_075352104C → R in RBMX1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459147EnsemblClinVar.1
Natural variantiVAR_075355150C → S in RBMX1B. 1 Publication1
Natural variantiVAR_046001153C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144EnsemblClinVar.1
Natural variantiVAR_046002153C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145EnsemblClinVar.1
Uruguay faciocardiomusculoskeletal syndrome (FCMSU)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300280

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNETi2273
GeneReviewsiFHL1
MalaCardsiFHL1
MIMi300280 phenotype
300695 phenotype
300696 phenotype
300717 phenotype
300718 phenotype
OpenTargetsiENSG00000022267
Orphaneti155 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
PharmGKBiPA28141

Polymorphism and mutation databases

BioMutaiFHL1
DMDMi59800384

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000757352 – 323Four and a half LIM domains protein 1Add BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei4N6-acetyllysineBy similarity1
Cross-linki86Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiQ13642
PeptideAtlasiQ13642
PRIDEiQ13642
ProteomicsDBi59642
59643 [Q13642-1]
59644 [Q13642-3]
59645 [Q13642-4]
59646 [Q13642-5]
TopDownProteomicsiQ13642-1 [Q13642-1]

PTM databases

iPTMnetiQ13642
PhosphoSitePlusiQ13642

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

BgeeiENSG00000022267 Expressed in 243 organ(s), highest expression level in biceps brachii
ExpressionAtlasiQ13642 baseline and differential
GenevisibleiQ13642 HS

Organism-specific databases

HPAiCAB020817
HPA001040
HPA001391

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108564, 37 interactors
CORUMiQ13642
IntActiQ13642, 30 interactors
MINTiQ13642
STRINGi9606.ENSP00000071281

Structurei

Secondary structure

1323
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13642
SMRiQ13642
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13642

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 92LIM zinc-binding 1PROSITE-ProRule annotationAdd BLAST53
Domaini101 – 153LIM zinc-binding 2PROSITE-ProRule annotationAdd BLAST53
Domaini162 – 212LIM zinc-binding 3PROSITE-ProRule annotationAdd BLAST51

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri7 – 31C4-typeSequence analysisAdd BLAST25

Keywords - Domaini

LIM domain, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410INGD Eukaryota
ENOG410YDMU LUCA
GeneTreeiENSGT00760000118910
HOVERGENiHBG074526
InParanoidiQ13642
KOiK14365
OMAiVEDQFYC
OrthoDBiEOG091G07C5
PhylomeDBiQ13642
TreeFamiTF318571

Family and domain databases

InterProiView protein in InterPro
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00412 LIM, 3 hits
SMARTiView protein in SMART
SM00132 LIM, 3 hits
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 3 hits
PS50023 LIM_DOMAIN_2, 3 hits

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 15 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:323
Mass (Da):36,263
Last modified:January 23, 2007 - v4
Checksum:i50FD17F7B2606823
GO
Isoform 1 (identifier: Q13642-1) [UniParc]FASTAAdd to basket
Also known as: FHL1, FHL1A, SLIM1

The sequence of this isoform differs from the canonical sequence as follows:
     231-323: KRTVSRVSHP...TTASTAKNAP → FGKGSSVVAY...VYCPDCAKKL

Show »
Length:280
Mass (Da):31,895
Checksum:i2FC873D70E62834D
GO
Isoform 3 (identifier: Q13642-3) [UniParc]FASTAAdd to basket
Also known as: FHL1C

The sequence of this isoform differs from the canonical sequence as follows:
     168-296: Missing.

Show »
Length:194
Mass (Da):22,017
Checksum:i2DBD610944FFE5EC
GO
Isoform 4 (identifier: Q13642-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTFYVASLALELIWMLSSPAGPSSYKVGTM
     231-323: KRTVSRVSHP...TTASTAKNAP → FGKGSSVVAY...VYCPDCAKKL

Note: No experimental confirmation available.
Show »
Length:309
Mass (Da):34,997
Checksum:i70D165A814166097
GO
Isoform 5 (identifier: Q13642-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASHRHSGPSSYKVGTM
     231-323: KRTVSRVSHP...TTASTAKNAP → FGKGSSVVAY...VYCPDCAKKL

Note: No experimental confirmation available.
Show »
Length:296
Mass (Da):33,579
Checksum:i24EAD21C9DEF4DAD
GO

Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5JXI2Q5JXI2_HUMAN
Four and a half LIM domains protein...
FHL1
210Annotation score:
Q5JXH8Q5JXH8_HUMAN
Four and a half LIM domains protein...
FHL1
204Annotation score:
Q5JXI8Q5JXI8_HUMAN
Four and a half LIM domains protein...
FHL1
257Annotation score:
Q5JXH7Q5JXH7_HUMAN
Four and a half LIM domains protein...
FHL1
205Annotation score:
Q5JXH9Q5JXH9_HUMAN
Four and a half LIM domains protein...
FHL1
155Annotation score:
Q5JXI0Q5JXI0_HUMAN
Four and a half LIM domains protein...
FHL1
141Annotation score:
Q5JXI3Q5JXI3_HUMAN
Four and a half LIM domains protein...
FHL1
207Annotation score:
A0A0D9SG53A0A0D9SG53_HUMAN
Four and a half LIM domains protein...
FHL1
130Annotation score:
A0A0D9SFZ9A0A0D9SFZ9_HUMAN
Four and a half LIM domains protein...
FHL1
175Annotation score:
A0A0D9SFI6A0A0D9SFI6_HUMAN
Four and a half LIM domains protein...
FHL1
147Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence AAH88369 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti73H → Q in AAC52021 (PubMed:8753811).Curated1
Sequence conflicti81 – 91VAKDNKILCNK → CGQGQQRSCAQ in AAD21579 (PubMed:10352231).CuratedAdd BLAST11
Sequence conflicti98S → F (PubMed:8753811).Curated1
Sequence conflicti98S → F (PubMed:10352231).Curated1
Sequence conflicti158F → L (PubMed:8753811).Curated1
Sequence conflicti158F → L (PubMed:7626119).Curated1
Sequence conflicti239H → R in AAC72390 (PubMed:10524257).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075350101C → F in RBMX1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_075351102 – 104Missing in RBMX1B; unknown pathological significance. 1 Publication3
Natural variantiVAR_075352104C → R in RBMX1B; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459147EnsemblClinVar.1
Natural variantiVAR_042603122W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140EnsemblClinVar.1
Natural variantiVAR_075353123H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812EnsemblClinVar.1
Natural variantiVAR_075354123H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813EnsemblClinVar.1
Natural variantiVAR_045999123H → Y in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458142EnsemblClinVar.1
Natural variantiVAR_042604128T → TI in XMPMA. 1 Publication1
Natural variantiVAR_046000132C → F in RBMX1A; the mutant protein initiates aggregation of the FHL1 protein causing reducing bodies formation; dominant-negative effect. 2 PublicationsCorresponds to variant dbSNP:rs122458143EnsemblClinVar.1
Natural variantiVAR_075355150C → S in RBMX1B. 1 Publication1
Natural variantiVAR_075356150C → Y in RBMX1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459146EnsemblClinVar.1
Natural variantiVAR_046001153C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144EnsemblClinVar.1
Natural variantiVAR_046002153C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145EnsemblClinVar.1
Natural variantiVAR_076566154H → P in SPM. 1 Publication1
Natural variantiVAR_075357209C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149EnsemblClinVar.1
Natural variantiVAR_042605224C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141EnsemblClinVar.1
Natural variantiVAR_075358276C → Y in EDMD6; drastically reduced protein levels in muscle. 1 Publication1
Natural variantiVAR_075359280V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811EnsemblClinVar.1
Isoform 1 (identifier: Q13642-1)
Natural varianti246H → Y in XMPMA, unknown pathological significance. 1 Publication1
Natural varianti275D → N1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0431621M → MTFYVASLALELIWMLSSPA GPSSYKVGTM in isoform 4. 1 Publication1
Alternative sequenceiVSP_0434041M → MASHRHSGPSSYKVGTM in isoform 5. 1 Publication1
Alternative sequenceiVSP_010693168 – 296Missing in isoform 3. 1 PublicationAdd BLAST129
Alternative sequenceiVSP_010694231 – 323KRTVS…AKNAP → FGKGSSVVAYEGQSWHDYCF HCKKCSVNLANKRFVFHQEQ VYCPDCAKKL in isoform 1, isoform 4 and isoform 5. 6 PublicationsAdd BLAST93

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60115 mRNA Translation: AAC52021.1
U29538 mRNA Translation: AAC35421.1
AF110763 Genomic DNA Translation: AAD21579.1
AF098518 mRNA Translation: AAC72390.1
AF063002 mRNA Translation: AAC72886.1
AF220153 mRNA Translation: AAF32351.1
AK122708 mRNA Translation: BAG53680.1
AK289411 mRNA Translation: BAF82100.1
AK299381 mRNA Translation: BAH13020.1
AK301642 mRNA Translation: BAH13529.1
CR456974 mRNA Translation: CAG33255.1
AL078638 Genomic DNA No translation available.
CH471150 Genomic DNA Translation: EAW88476.1
CH471150 Genomic DNA Translation: EAW88478.1
CH471150 Genomic DNA Translation: EAW88479.1
BC010998 mRNA Translation: AAH10998.1
BC088369 mRNA Translation: AAH88369.1 Different initiation.
U60118 mRNA Translation: AAC50795.1
CCDSiCCDS14655.1 [Q13642-1]
CCDS55505.1 [Q13642-4]
CCDS55506.1 [Q13642-5]
CCDS55507.1 [Q13642-2]
CCDS76036.1 [Q13642-3]
PIRiG01884
JC4893 G02741
RefSeqiNP_001153171.1, NM_001159699.1 [Q13642-5]
NP_001153172.1, NM_001159700.1 [Q13642-1]
NP_001153173.1, NM_001159701.1 [Q13642-4]
NP_001153174.1, NM_001159702.2 [Q13642-2]
NP_001153175.1, NM_001159703.1 [Q13642-3]
NP_001153176.1, NM_001159704.1 [Q13642-1]
NP_001161291.1, NM_001167819.1 [Q13642-1]
NP_001440.2, NM_001449.4 [Q13642-1]
XP_006724807.1, XM_006724744.2 [Q13642-2]
XP_006724808.1, XM_006724745.3 [Q13642-2]
XP_006724809.1, XM_006724746.2 [Q13642-2]
XP_006724810.1, XM_006724747.2 [Q13642-1]
XP_016884846.1, XM_017029357.1 [Q13642-1]
UniGeneiHs.435369

Genome annotation databases

EnsembliENST00000345434; ENSP00000071281; ENSG00000022267 [Q13642-2]
ENST00000370683; ENSP00000359717; ENSG00000022267 [Q13642-5]
ENST00000370690; ENSP00000359724; ENSG00000022267 [Q13642-1]
ENST00000394153; ENSP00000377709; ENSG00000022267 [Q13642-1]
ENST00000394155; ENSP00000377710; ENSG00000022267 [Q13642-2]
ENST00000535737; ENSP00000444815; ENSG00000022267 [Q13642-1]
ENST00000539015; ENSP00000437673; ENSG00000022267 [Q13642-4]
ENST00000543669; ENSP00000443333; ENSG00000022267 [Q13642-1]
ENST00000618438; ENSP00000477609; ENSG00000022267 [Q13642-3]
ENST00000628568; ENSP00000486782; ENSG00000022267 [Q13642-1]
ENST00000629039; ENSP00000486439; ENSG00000022267 [Q13642-1]
ENST00000630084; ENSP00000485897; ENSG00000022267 [Q13642-1]
GeneIDi2273
KEGGihsa:2273
UCSCiuc004ezl.3 human [Q13642-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60115 mRNA Translation: AAC52021.1
U29538 mRNA Translation: AAC35421.1
AF110763 Genomic DNA Translation: AAD21579.1
AF098518 mRNA Translation: AAC72390.1
AF063002 mRNA Translation: AAC72886.1
AF220153 mRNA Translation: AAF32351.1
AK122708 mRNA Translation: BAG53680.1
AK289411 mRNA Translation: BAF82100.1
AK299381 mRNA Translation: BAH13020.1
AK301642 mRNA Translation: BAH13529.1
CR456974 mRNA Translation: CAG33255.1
AL078638 Genomic DNA No translation available.
CH471150 Genomic DNA Translation: EAW88476.1
CH471150 Genomic DNA Translation: EAW88478.1
CH471150 Genomic DNA Translation: EAW88479.1
BC010998 mRNA Translation: AAH10998.1
BC088369 mRNA Translation: AAH88369.1 Different initiation.
U60118 mRNA Translation: AAC50795.1
CCDSiCCDS14655.1 [Q13642-1]
CCDS55505.1 [Q13642-4]
CCDS55506.1 [Q13642-5]
CCDS55507.1 [Q13642-2]
CCDS76036.1 [Q13642-3]
PIRiG01884
JC4893 G02741
RefSeqiNP_001153171.1, NM_001159699.1 [Q13642-5]
NP_001153172.1, NM_001159700.1 [Q13642-1]
NP_001153173.1, NM_001159701.1 [Q13642-4]
NP_001153174.1, NM_001159702.2 [Q13642-2]
NP_001153175.1, NM_001159703.1 [Q13642-3]
NP_001153176.1, NM_001159704.1 [Q13642-1]
NP_001161291.1, NM_001167819.1 [Q13642-1]
NP_001440.2, NM_001449.4 [Q13642-1]
XP_006724807.1, XM_006724744.2 [Q13642-2]
XP_006724808.1, XM_006724745.3 [Q13642-2]
XP_006724809.1, XM_006724746.2 [Q13642-2]
XP_006724810.1, XM_006724747.2 [Q13642-1]
XP_016884846.1, XM_017029357.1 [Q13642-1]
UniGeneiHs.435369

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1X63NMR-A91-159[»]
2CUPNMR-A40-127[»]
2CURNMR-A162-217[»]
2EGQNMR-A211-280[»]
ProteinModelPortaliQ13642
SMRiQ13642
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108564, 37 interactors
CORUMiQ13642
IntActiQ13642, 30 interactors
MINTiQ13642
STRINGi9606.ENSP00000071281

PTM databases

iPTMnetiQ13642
PhosphoSitePlusiQ13642

Polymorphism and mutation databases

BioMutaiFHL1
DMDMi59800384

Proteomic databases

PaxDbiQ13642
PeptideAtlasiQ13642
PRIDEiQ13642
ProteomicsDBi59642
59643 [Q13642-1]
59644 [Q13642-3]
59645 [Q13642-4]
59646 [Q13642-5]
TopDownProteomicsiQ13642-1 [Q13642-1]

Protocols and materials databases

DNASUi2273
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345434; ENSP00000071281; ENSG00000022267 [Q13642-2]
ENST00000370683; ENSP00000359717; ENSG00000022267 [Q13642-5]
ENST00000370690; ENSP00000359724; ENSG00000022267 [Q13642-1]
ENST00000394153; ENSP00000377709; ENSG00000022267 [Q13642-1]
ENST00000394155; ENSP00000377710; ENSG00000022267 [Q13642-2]
ENST00000535737; ENSP00000444815; ENSG00000022267 [Q13642-1]
ENST00000539015; ENSP00000437673; ENSG00000022267 [Q13642-4]
ENST00000543669; ENSP00000443333; ENSG00000022267 [Q13642-1]
ENST00000618438; ENSP00000477609; ENSG00000022267 [Q13642-3]
ENST00000628568; ENSP00000486782; ENSG00000022267 [Q13642-1]
ENST00000629039; ENSP00000486439; ENSG00000022267 [Q13642-1]
ENST00000630084; ENSP00000485897; ENSG00000022267 [Q13642-1]
GeneIDi2273
KEGGihsa:2273
UCSCiuc004ezl.3 human [Q13642-2]

Organism-specific databases

CTDi2273
DisGeNETi2273
EuPathDBiHostDB:ENSG00000022267.16
GeneCardsiFHL1
GeneReviewsiFHL1
HGNCiHGNC:3702 FHL1
HPAiCAB020817
HPA001040
HPA001391
MalaCardsiFHL1
MIMi300163 gene
300280 phenotype
300695 phenotype
300696 phenotype
300717 phenotype
300718 phenotype
neXtProtiNX_Q13642
OpenTargetsiENSG00000022267
Orphaneti155 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
PharmGKBiPA28141
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INGD Eukaryota
ENOG410YDMU LUCA
GeneTreeiENSGT00760000118910
HOVERGENiHBG074526
InParanoidiQ13642
KOiK14365
OMAiVEDQFYC
OrthoDBiEOG091G07C5
PhylomeDBiQ13642
TreeFamiTF318571

Enzyme and pathway databases

SIGNORiQ13642

Miscellaneous databases

ChiTaRSiFHL1 human
EvolutionaryTraceiQ13642
GeneWikiiFHL1
GenomeRNAii2273
PROiPR:Q13642
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000022267 Expressed in 243 organ(s), highest expression level in biceps brachii
ExpressionAtlasiQ13642 baseline and differential
GenevisibleiQ13642 HS

Family and domain databases

InterProiView protein in InterPro
IPR001781 Znf_LIM
PfamiView protein in Pfam
PF00412 LIM, 3 hits
SMARTiView protein in SMART
SM00132 LIM, 3 hits
PROSITEiView protein in PROSITE
PS00478 LIM_DOMAIN_1, 3 hits
PS50023 LIM_DOMAIN_2, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiFHL1_HUMAN
AccessioniPrimary (citable) accession number: Q13642
Secondary accession number(s): B7Z5T4
, B7Z793, O95212, Q13230, Q13645, Q5JXI7, Q5M7Y6, Q6IB30, Q9NZ40, Q9UKZ8, Q9Y630
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 187 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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