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UniProtKB - Q13642 (FHL1_HUMAN)

Entry version 204 (02 Dec 2020)
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:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May have an involvement in muscle development or hypertrophy.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri7 – 31C4-typeSequence analysisAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processDifferentiation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13642

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q13642

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FHL1
Synonyms:SLIM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000022267.16

Human Gene Nomenclature Database

More...HGNCi		HGNC:3702, FHL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300163, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13642

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075357209C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149Ensembl.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042603122W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140Ensembl.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042604128T → TI in XMPMA. 1 Publication1
Natural variantiVAR_042605224C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141Ensembl.1
Natural variantiVAR_075359280V → M in XMPMA. 1 PublicationCorresponds to variant dbSNP:rs267606811Ensembl.1
Isoform 1 (identifier: Q13642-1)
Natural variantiVAR_082844246H → 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.
Related information in OMIM
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:rs267606812Ensembl.1
Natural variantiVAR_075354123H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813Ensembl.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:rs122458142Ensembl.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:rs122458143Ensembl.1
Natural variantiVAR_075356150C → 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 OMIM
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:rs122459147Ensembl.1
Natural variantiVAR_075355150C → S in RBMX1B. 1 Publication1
Natural variantiVAR_046001153C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144Ensembl.1
Natural variantiVAR_046002153C → 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 OMIM

Keywords - Diseasei

Disease mutation, Emery-Dreifuss muscular dystrophy

Organism-specific databases

DisGeNET

More...DisGeNETi		2273

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		FHL1

MalaCards human disease database

More...MalaCardsi		FHL1
MIMi300280, phenotype
300695, phenotype
300696, phenotype
300717, phenotype
300718, phenotype

Open Targets

More...OpenTargetsi		ENSG00000022267

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28141

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13642, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FHL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		59800384

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000757352 – 323Four and a half LIM domains protein 1Add BLAST322

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei4N6-acetyllysineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki86Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13642

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13642

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13642

PeptideAtlas

More...PeptideAtlasi		Q13642

PRoteomics IDEntifications database

More...PRIDEi		Q13642

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59642 [Q13642-2]
59643 [Q13642-1]
59644 [Q13642-3]
59645 [Q13642-4]
59646 [Q13642-5]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q13642-1 [Q13642-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13642

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13642

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q13642

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Elevated levels during postnatal muscle growth.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000022267, Expressed in biceps brachii and 255 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13642, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13642, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000022267, Group enriched (skeletal muscle, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108564, 58 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q13642

Protein interaction database and analysis system

More...IntActi		Q13642, 34 interactors

Molecular INTeraction database

More...MINTi		Q13642

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377710

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13642, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13642

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q13642

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1704, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154833

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_860421_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13642

Identification of Orthologs from Complete Genome Data

More...OMAi		EKDGHHC

Database of Orthologous Groups

More...OrthoDBi		642235at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13642

TreeFam database of animal gene trees

More...TreeFami		TF318571

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR042997, Fhl1
IPR001781, Znf_LIM

The PANTHER Classification System

More...PANTHERi		PTHR47029, PTHR47029, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00412, LIM, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00132, LIM, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00478, LIM_DOMAIN_1, 3 hits
PS50023, LIM_DOMAIN_2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Show »
Length:296
Mass (Da):33,579
Checksum:i24EAD21C9DEF4DAD
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 17 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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXI8Q5JXI8_HUMAN
Four and a half LIM domains protein...
FHL1
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXH7Q5JXH7_HUMAN
Four and a half LIM domains protein...
FHL1
205Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXH8Q5JXH8_HUMAN
Four and a half LIM domains protein...
FHL1
204Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXH9Q5JXH9_HUMAN
Four and a half LIM domains protein...
FHL1
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXI0Q5JXI0_HUMAN
Four and a half LIM domains protein...
FHL1
141Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JXI3Q5JXI3_HUMAN
Four and a half LIM domains protein...
FHL1
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFB0A0A0D9SFB0_HUMAN
Four and a half LIM domains protein...
FHL1
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFI6A0A0D9SFI6_HUMAN
Four and a half LIM domains protein...
FHL1
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFZ9A0A0D9SFZ9_HUMAN
Four and a half LIM domains protein...
FHL1
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH88369 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs122459147Ensembl.1
Natural variantiVAR_042603122W → S in SPM. 1 PublicationCorresponds to variant dbSNP:rs122458140Ensembl.1
Natural variantiVAR_075353123H → L in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606812Ensembl.1
Natural variantiVAR_075354123H → Q in RBMX1A. 1 PublicationCorresponds to variant dbSNP:rs267606813Ensembl.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:rs122458142Ensembl.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:rs122458143Ensembl.1
Natural variantiVAR_075355150C → S in RBMX1B. 1 Publication1
Natural variantiVAR_075356150C → Y in RBMX1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs122459146Ensembl.1
Natural variantiVAR_046001153C → R in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458144Ensembl.1
Natural variantiVAR_046002153C → Y in RBMX1B. 2 PublicationsCorresponds to variant dbSNP:rs122458145Ensembl.1
Natural variantiVAR_076566154H → P in SPM. 1 Publication1
Natural variantiVAR_075357209C → R in EDMD6. 2 PublicationsCorresponds to variant dbSNP:rs122459149Ensembl.1
Natural variantiVAR_042605224C → W in XMPMA. 2 PublicationsCorresponds to variant dbSNP:rs122458141Ensembl.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:rs267606811Ensembl.1
Isoform 1 (identifier: Q13642-1)
Natural variantiVAR_082844246H → Y in XMPMA, unknown pathological significance. 1 Publication1
Natural variantiVAR_082845275D → N1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Protein sequence database of the Protein Information Resource

More...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
XP_006724808.1, XM_006724745.3
XP_006724809.1, XM_006724746.2 [Q13642-2]
XP_006724810.1, XM_006724747.2
XP_016884846.1, XM_017029357.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000370683; ENSP00000359717; ENSG00000022267 [Q13642-5]
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]
ENST00000628919; ENSP00000487147; ENSG00000022267 [Q13642-1]
ENST00000629039; ENSP00000486439; ENSG00000022267 [Q13642-1]
ENST00000630084; ENSP00000485897; ENSG00000022267 [Q13642-1]
ENST00000651089; ENSP00000498684; ENSG00000022267 [Q13642-2]
ENST00000651929; ENSP00000499016; ENSG00000022267 [Q13642-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2273

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2273

UCSC genome browser

More...UCSCi		uc004ezl.3, human [Q13642-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
XP_006724808.1, XM_006724745.3
XP_006724809.1, XM_006724746.2 [Q13642-2]
XP_006724810.1, XM_006724747.2
XP_016884846.1, XM_017029357.1

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 entryMethodResolution (Å)ChainPositionsPDBsum
1X63NMR-A91-159[»]
2CUPNMR-A40-127[»]
2CURNMR-A162-217[»]
2EGQNMR-A211-280[»]
SMRiQ13642
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108564, 58 interactors
CORUMiQ13642
IntActiQ13642, 34 interactors
MINTiQ13642
STRINGi9606.ENSP00000377710

PTM databases

iPTMnetiQ13642
PhosphoSitePlusiQ13642
SwissPalmiQ13642

Polymorphism and mutation databases

BioMutaiFHL1
DMDMi59800384

Proteomic databases

jPOSTiQ13642
MassIVEiQ13642
PaxDbiQ13642
PeptideAtlasiQ13642
PRIDEiQ13642
ProteomicsDBi59642 [Q13642-2]
59643 [Q13642-1]
59644 [Q13642-3]
59645 [Q13642-4]
59646 [Q13642-5]
TopDownProteomicsiQ13642-1 [Q13642-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		16643, 466 antibodies

The DNASU plasmid repository

More...DNASUi		2273

Genome annotation databases

EnsembliENST00000370683; ENSP00000359717; ENSG00000022267 [Q13642-5]
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]
ENST00000628919; ENSP00000487147; ENSG00000022267 [Q13642-1]
ENST00000629039; ENSP00000486439; ENSG00000022267 [Q13642-1]
ENST00000630084; ENSP00000485897; ENSG00000022267 [Q13642-1]
ENST00000651089; ENSP00000498684; ENSG00000022267 [Q13642-2]
ENST00000651929; ENSP00000499016; ENSG00000022267 [Q13642-1]
GeneIDi2273
KEGGihsa:2273
UCSCiuc004ezl.3, human [Q13642-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2273
DisGeNETi2273
EuPathDBiHostDB:ENSG00000022267.16

GeneCards: human genes, protein and diseases

More...GeneCardsi		FHL1
GeneReviewsiFHL1
HGNCiHGNC:3702, FHL1
HPAiENSG00000022267, Group enriched (skeletal muscle, tongue)
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

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1704, Eukaryota
GeneTreeiENSGT00940000154833
HOGENOMiCLU_860421_0_0_1
InParanoidiQ13642
OMAiEKDGHHC
OrthoDBi642235at2759
PhylomeDBiQ13642
TreeFamiTF318571

Enzyme and pathway databases

PathwayCommonsiQ13642
SIGNORiQ13642

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2273, 4 hits in 476 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FHL1, human
EvolutionaryTraceiQ13642

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FHL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2273
PharosiQ13642, Tbio

Protein Ontology

More...PROi		PR:Q13642
RNActiQ13642, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000022267, Expressed in biceps brachii and 255 other tissues
ExpressionAtlasiQ13642, baseline and differential
GenevisibleiQ13642, HS

Family and domain databases

InterProiView protein in InterPro
IPR042997, Fhl1
IPR001781, Znf_LIM
PANTHERiPTHR47029, PTHR47029, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFHL1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13642
Secondary accession number(s): B7Z5T4
, B7Z793, O95212, Q13230, Q13645, Q5JXI7, Q5M7Y6, Q6IB30, Q9NZ40, Q9UKZ8, Q9Y630
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

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Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

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