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UniProtKB - Q13642 (FHL1_HUMAN)

>sp|Q13642|FHL1_HUMAN Four and a half LIM domains protein 1 OS=Homo sapiens OX=9606 GN=FHL1 PE=1 SV=4
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRF
WHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGT
VWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQP
WHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHP
VSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVK
APVWWPMKDNPGTTTASTAKNAP

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History
Entry version 187 (07 Nov 2018)
Sequence version 4 (23 Jan 2007)
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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 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
Inferred from physical interactionⁱ
- 18281375
metal ion binding Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ morphogenesis
Source: UniProtKB
Non-traceable author statementⁱ
- 7626119
cell differentiation Source: UniProtKB-KW
muscle organ development
Source: UniProtKB
Non-traceable author statementⁱ
- 7626119
negative regulation of cell growth
Source: UniProtKB
Inferred from direct assayⁱ
- 21702045
negative regulation of G1/S transition of mitotic cell cycle
Source: UniProtKB
Inferred from direct assayⁱ
- 21702045
negative regulation of G2/M transition of mitotic cell cycle
Source: UniProtKB
Inferred from direct assayⁱ
- 21702045
positive regulation of potassium ion transport
Source: BHF-UCL
Inferred from direct assayⁱ
- 18281375
regulation of membrane depolarization
Source: BHF-UCL
Inferred from direct assayⁱ
- 18281375
regulation of potassium ion transmembrane transporter activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 18281375

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein
Biological process	Differentiation
Ligand	Metal-binding, Zinc

Enzyme and pathway databases

SIGNORⁱ

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000022267.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3702 FHL1
MIMⁱ	300163 gene
neXtProtⁱ	NX_Q13642

Subcellular locationⁱ

UniProt annotation
GO - Cellular component

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 key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_075357	209	C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149EnsemblClinVar.		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.

See also OMIM:300695

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_042603	122	W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140EnsemblClinVar.		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.

See also OMIM:300696

Feature 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:rs122458141EnsemblClinVar.		1
Natural variantⁱVAR_075359	280	V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811EnsemblClinVar.		1
Isoform 1 (identifier: Q13642-1)
Natural variantⁱ	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.

See also OMIM:300717

Feature 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:rs267606812EnsemblClinVar.		1
Natural variantⁱVAR_075354	123	H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813EnsemblClinVar.		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:rs122458142EnsemblClinVar.		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:rs122458143EnsemblClinVar.		1
Natural variantⁱVAR_075356	150	C → 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 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:rs122459147EnsemblClinVar.		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:rs122458144EnsemblClinVar.		1
Natural variantⁱVAR_046002	153	C → 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

DisGeNET More...DisGeNETⁱ	2273
GeneReviewsⁱ	FHL1
MalaCards human disease database More...MalaCardsⁱ	FHL1
MIMⁱ	300280 phenotype 300695 phenotype 300696 phenotype 300717 phenotype 300718 phenotype
Open Targets More...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

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 conjugation

Proteomic databases

PaxDbⁱ	Q13642
PeptideAtlas More...PeptideAtlasⁱ	Q13642
PRIDEⁱ	Q13642
ProteomicsDBⁱ	59642 59643 [Q13642-1] 59644 [Q13642-3] 59645 [Q13642-4] 59646 [Q13642-5]
TopDownProteomicsⁱ	Q13642-1 [Q13642-1]

PTM databases

iPTMnetⁱ	Q13642
PhosphoSitePlusⁱ	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 243 organ(s), highest expression level in biceps brachii
ExpressionAtlasⁱ	Q13642 baseline and differential
Genevisibleⁱ	Q13642 HS

Organism-specific databases

HPAⁱ

CAB020817
HPA001040
HPA001391

Interactionⁱ

Binary interactionsⁱ

GO - Molecular functionⁱ

ion channel binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 18281375

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108564, 37 interactors
CORUMⁱ	Q13642
IntActⁱ	Q13642, 30 interactors
Molecular INTeraction database More...MINTⁱ	Q13642
STRINGⁱ	9606.ENSP00000071281

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

3D structure databases

ProteinModelPortalⁱ	Q13642
SMRⁱ	Q13642
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

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-finger

Phylogenomic databases

eggNOGⁱ	ENOG410INGD Eukaryota ENOG410YDMU LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118910
HOVERGENⁱ	HBG074526
InParanoidⁱ	Q13642
KEGG Orthology (KO) More...KOⁱ	K14365
OMAⁱ	VEDQFYC
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G07C5
PhylomeDBⁱ	Q13642
TreeFamⁱ	TF318571

Family and domain databases

InterProⁱ	View protein in InterPro IPR001781 Znf_LIM
Pfam protein domain database More...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

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. Align Add to basket

This entry has 5 described isoforms and 15 potential isoforms that are computationally mapped.Show all Align All

Isoform 2 (identifier: Q13642-2) [UniParc]FASTA Add 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.

        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

Isoform 1 (identifier: Q13642-1) [UniParc]FASTA Add 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

        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 FGKGSSVVAY EGQSWHDYCF 
       260        270        280
HCKKCSVNLA NKRFVFHQEQ VYCPDCAKKL

Length:280

Mass (Da):31,895

Checksum:ⁱ2FC873D70E62834D

Isoform 3 (identifier: Q13642-3) [UniParc]FASTA Add to basket

Also known as: FHL1C

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

        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 
VTCHETKFAK HCVKCNKGLV KAPVWWPMKD NPGTTTASTA KNAP

Length:194

Mass (Da):22,017

Checksum:ⁱ2DBD610944FFE5EC

Isoform 4 (identifier: Q13642-4) [UniParc]FASTA Add to basket

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

        10         20         30         40         50
MTFYVASLAL ELIWMLSSPA GPSSYKVGTM AEKFDCHYCR DPLQGKKYVQ 
        60         70         80         90        100
KDGHHCCLKC FDKFCANTCV ECRKPIGADS KEVHYKNRFW HDTCFRCAKC 
       110        120        130        140        150
LHPLANETFV AKDNKILCNK CTTREDSPKC KGCFKAIVAG DQNVEYKGTV 
       160        170        180        190        200
WHKDCFTCSN CKQVIGTGSF FPKGEDFYCV TCHETKFAKH CVKCNKAITS 
       210        220        230        240        250
GGITYQDQPW HADCFVCVTC SKKLAGQRFT AVEDQYYCVD CYKNFVAKKC 
       260        270        280        290        300
AGCKNPITGF GKGSSVVAYE GQSWHDYCFH CKKCSVNLAN KRFVFHQEQV 

YCPDCAKKL

Note: No experimental confirmation available.

Length:309

Mass (Da):34,997

Checksum:ⁱ70D165A814166097

Isoform 5 (identifier: Q13642-5) [UniParc]FASTA Add to basket

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

        10         20         30         40         50
MASHRHSGPS SYKVGTMAEK FDCHYCRDPL QGKKYVQKDG HHCCLKCFDK 
        60         70         80         90        100
FCANTCVECR KPIGADSKEV HYKNRFWHDT CFRCAKCLHP LANETFVAKD 
       110        120        130        140        150
NKILCNKCTT REDSPKCKGC FKAIVAGDQN VEYKGTVWHK DCFTCSNCKQ 
       160        170        180        190        200
VIGTGSFFPK GEDFYCVTCH ETKFAKHCVK CNKAITSGGI TYQDQPWHAD 
       210        220        230        240        250
CFVCVTCSKK LAGQRFTAVE DQYYCVDCYK NFVAKKCAGC KNPITGFGKG 
       260        270        280        290 
SSVVAYEGQS WHDYCFHCKK CSVNLANKRF VFHQEQVYCP DCAKKL

Note: No experimental confirmation available.

Length:296

Mass (Da):33,579

Checksum:ⁱ24EAD21C9DEF4DAD

Computationally mapped potential isoform sequencesⁱ

There are 15 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	Q5JXI2	Q5JXI2_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	210	Annotation score:
	Q5JXH8	Q5JXH8_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	204	Annotation score:
	Q5JXI8	Q5JXI8_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	257	Annotation score:
	Q5JXH7	Q5JXH7_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	205	Annotation score:
	Q5JXH9	Q5JXH9_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	155	Annotation score:
	Q5JXI0	Q5JXI0_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	141	Annotation score:
	Q5JXI3	Q5JXI3_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	207	Annotation score:
	A0A0D9SG53	A0A0D9SG53_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	130	Annotation score:
	A0A0D9SFZ9	A0A0D9SFZ9_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	175	Annotation score:
	A0A0D9SFI6	A0A0D9SFI6_HUMAN		Four and a half LIM domains protein... Four and a half LIM domains protein 1	FHL1	147	Annotation 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 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:rs122459147EnsemblClinVar.		1
Natural variantⁱVAR_042603	122	W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140EnsemblClinVar.		1
Natural variantⁱVAR_075353	123	H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812EnsemblClinVar.		1
Natural variantⁱVAR_075354	123	H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813EnsemblClinVar.		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:rs122458142EnsemblClinVar.		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:rs122458143EnsemblClinVar.		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:rs122459146EnsemblClinVar.		1
Natural variantⁱVAR_046001	153	C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144EnsemblClinVar.		1
Natural variantⁱVAR_046002	153	C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145EnsemblClinVar.		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:rs122459149EnsemblClinVar.		1
Natural variantⁱVAR_042605	224	C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141EnsemblClinVar.		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:rs267606811EnsemblClinVar.		1
Isoform 1 (identifier: Q13642-1)
Natural variantⁱ	246	H → Y in XMPMA, unknown pathological significance. 1 Publication		1
Natural variantⁱ	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

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14655.1 [Q13642-1] CCDS55505.1 [Q13642-4] CCDS55506.1 [Q13642-5] CCDS55507.1 [Q13642-2] CCDS76036.1 [Q13642-3]
PIRⁱ	G01884 JC4893 G02741
NCBI Reference Sequences More...RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.435369

Genome annotation databases

Ensemblⁱ	ENST00000345434; 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]
GeneIDⁱ	2273
KEGGⁱ	hsa:2273
UCSC genome browser More...UCSCⁱ	uc004ezl.3 human [Q13642-2]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

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
CCDSⁱ	CCDS14655.1 [Q13642-1] CCDS55505.1 [Q13642-4] CCDS55506.1 [Q13642-5] CCDS55507.1 [Q13642-2] CCDS76036.1 [Q13642-3]
PIRⁱ	G01884 JC4893 G02741
RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.435369

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	Q13642
SMRⁱ	Q13642
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108564, 37 interactors
CORUMⁱ	Q13642
IntActⁱ	Q13642, 30 interactors
MINTⁱ	Q13642
STRINGⁱ	9606.ENSP00000071281

PTM databases

iPTMnetⁱ	Q13642
PhosphoSitePlusⁱ	Q13642

Polymorphism and mutation databases

BioMutaⁱ	FHL1
DMDMⁱ	59800384

Proteomic databases

PaxDbⁱ	Q13642
PeptideAtlasⁱ	Q13642
PRIDEⁱ	Q13642
ProteomicsDBⁱ	59642 59643 [Q13642-1] 59644 [Q13642-3] 59645 [Q13642-4] 59646 [Q13642-5]
TopDownProteomicsⁱ	Q13642-1 [Q13642-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2273
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000345434; 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]
GeneIDⁱ	2273
KEGGⁱ	hsa:2273
UCSCⁱ	uc004ezl.3 human [Q13642-2]

Organism-specific databases

CTDⁱ	2273
DisGeNETⁱ	2273
EuPathDBⁱ	HostDB:ENSG00000022267.16
GeneCardsⁱ	FHL1
GeneReviewsⁱ	FHL1
HGNCⁱ	HGNC:3702 FHL1
HPAⁱ	CAB020817 HPA001040 HPA001391
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410INGD Eukaryota ENOG410YDMU LUCA
GeneTreeⁱ	ENSGT00760000118910
HOVERGENⁱ	HBG074526
InParanoidⁱ	Q13642
KOⁱ	K14365
OMAⁱ	VEDQFYC
OrthoDBⁱ	EOG091G07C5
PhylomeDBⁱ	Q13642
TreeFamⁱ	TF318571

Enzyme and pathway databases

SIGNORⁱ

Miscellaneous databases

ChiTaRSⁱ	FHL1 human
EvolutionaryTraceⁱ	Q13642
GeneWikiⁱ	FHL1
GenomeRNAiⁱ	2273
Protein Ontology More...PROⁱ	PR:Q13642
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000022267 Expressed in 243 organ(s), highest expression level in biceps brachii
ExpressionAtlasⁱ	Q13642 baseline and differential
Genevisibleⁱ	Q13642 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR001781 Znf_LIM
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...

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:	November 7, 2018
	This is version 187 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, Complete proteome, Direct protein sequencing, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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