ENSG00000022267


Homo sapiens

Features
Gene ID: ENSG00000022267
  
Biological name :FHL1
  
Synonyms : FHL1 / four and a half LIM domains 1 / Q13642
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q26.3
Gene start: 136146702
Gene end: 136211359
  
Corresponding Affymetrix probe sets: 201539_s_at (Human Genome U133 Plus 2.0 Array)   201540_at (Human Genome U133 Plus 2.0 Array)   210298_x_at (Human Genome U133 Plus 2.0 Array)   210299_s_at (Human Genome U133 Plus 2.0 Array)   214505_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486134
Ensembl peptide - ENSP00000487377
Ensembl peptide - ENSP00000487360
Ensembl peptide - ENSP00000487318
Ensembl peptide - ENSP00000487147
Ensembl peptide - ENSP00000487030
Ensembl peptide - ENSP00000486782
Ensembl peptide - ENSP00000486631
Ensembl peptide - ENSP00000486439
Ensembl peptide - ENSP00000486436
Ensembl peptide - ENSP00000071281
Ensembl peptide - ENSP00000359708
Ensembl peptide - ENSP00000359710
Ensembl peptide - ENSP00000359717
Ensembl peptide - ENSP00000359724
Ensembl peptide - ENSP00000377709
Ensembl peptide - ENSP00000377710
Ensembl peptide - ENSP00000389920
Ensembl peptide - ENSP00000391779
Ensembl peptide - ENSP00000408038
Ensembl peptide - ENSP00000412642
Ensembl peptide - ENSP00000413798
Ensembl peptide - ENSP00000414604
Ensembl peptide - ENSP00000437673
Ensembl peptide - ENSP00000443333
Ensembl peptide - ENSP00000444815
Ensembl peptide - ENSP00000477609
Ensembl peptide - ENSP00000485897
NCBI entrez gene - 2273     See in Manteia.
OMIM - 300163
RefSeq - XM_017029357
RefSeq - XM_011531316
RefSeq - XM_006724747
RefSeq - XM_006724746
RefSeq - XM_006724745
RefSeq - XM_006724744
RefSeq - XM_006724743
RefSeq - NM_001159699
RefSeq - NM_001159700
RefSeq - NM_001159701
RefSeq - NM_001159702
RefSeq - NM_001159703
RefSeq - NM_001159704
RefSeq - NM_001449
RefSeq - NM_001167819
RefSeq Peptide - NP_001440
RefSeq Peptide - NP_001153171
RefSeq Peptide - NP_001153172
RefSeq Peptide - NP_001153173
RefSeq Peptide - NP_001153174
RefSeq Peptide - NP_001153175
RefSeq Peptide - NP_001153176
RefSeq Peptide - NP_001161291
RefSeq Peptide - NP_001317588
swissprot - A0A0D9SGD1
swissprot - Q13642
swissprot - Q5JXH7
swissprot - Q5JXH8
swissprot - Q5JXH9
swissprot - Q5JXI0
swissprot - Q5JXI2
swissprot - Q5JXI3
swissprot - Q5JXI8
swissprot - A0A0D9SEY7
swissprot - A0A0D9SFB0
swissprot - A0A0D9SFI6
swissprot - A0A0D9SFZ9
swissprot - A0A0D9SG53
swissprot - A0A0D9SGB2
swissprot - A0A0D9SGC5
Ensembl - ENSG00000022267
  
Related genetic diseases (OMIM): 300280 - ?Uruguay faciocardiomusculoskeletal syndrome, 300280
  300696 - Emery-Dreifuss muscular dystrophy 6, X-linked, 300696
  300717 - Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717
  300718 - Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
  300695 - Scapuloperoneal myopathy, X-linked dominant, 300695
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fhl1aENSDARG00000071498Danio rerio
 fhl1bENSDARG00000056653Danio rerio
 FHL1ENSGALG00000006190Gallus gallus
 Fhl1ENSMUSG00000023092Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FHL2 / Q14192 / four and a half LIM domains 2ENSG0000011564137
FHL5 / Q5TD97 / four and a half LIM domains 5ENSG0000011221435
FHL3 / Q13643 / four and a half LIM domains 3ENSG0000018338634
LIMS1 / P48059 / LIM zinc finger domain containing 1ENSG0000016975621
LIMS2 / Q7Z4I7 / LIM zinc finger domain containing 2ENSG0000007216320
LDB3 / O75112 / LIM domain binding 3ENSG0000012236719
PDLIM5 / Q96HC4 / PDZ and LIM domain 5ENSG0000016311018
O43294 / TGFB1I1 / transforming growth factor beta 1 induced transcript 1ENSG0000014068217
PXN / P49023 / paxillinENSG0000008915917
PDLIM7 / Q9NR12 / PDZ and LIM domain 7ENSG0000019692316
LPXN / O60711 / leupaxinENSG0000011003115
AC013271.1ENSG0000028433712
AC112229.3ENSG0000025720712
LIMS4 / P0CW20 / LIM zinc finger domain containing 4ENSG000002566712
LIMS3 / P0CW19 / LIM zinc finger domain containing 3ENSG000002569772


Protein motifs (from Interpro)
Interpro ID Name
 IPR001781  Zinc finger, LIM-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003254 regulation of membrane depolarization IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development NAS
 biological_processGO:0009887 animal organ morphogenesis NAS
 biological_processGO:0010972 negative regulation of G2/M transition of mitotic cell cycle IDA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030308 negative regulation of cell growth IDA
 biological_processGO:0043268 positive regulation of potassium ion transport IDA
 biological_processGO:1901016 regulation of potassium ion transmembrane transporter activity IDA
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion HDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000232 Everted lower lip 
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 HP:0000244 Brachyturricephaly 
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 HP:0000278 Retrognathia 
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 HP:0000336 Prominent supraorbital ridges "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators]
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 HP:0000339 Pugilistic facies  
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000470 Short neck 
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 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000664 Synophrys "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson]
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 HP:0001169 Broad hands 
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 HP:0001265 Hyporeflexia 
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 HP:0001284 Areflexia 
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 HP:0001371 Contractures 
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 HP:0001374 Congenital hip dislocation 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001639 Hypertrophic cardiomyopathy 
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0001714 Ventricular hypertrophy 
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 HP:0001821 Broad nails 
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 HP:0001822 Hallux valgus "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators]
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 HP:0001836 Camptodactyly (feet) 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002359 Frequent falls 
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 HP:0002515 Waddling gait 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002747 Respiratory insufficiency due to muscle weakness 
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 HP:0002808 Kyphosis 
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 HP:0002996 Limited elbow movement 
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 HP:0003198 Myopathy 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003306 Spinal rigidity 
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 HP:0003307 Hyperlordosis 
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 HP:0003376 Steppage gait "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators]
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 HP:0003418 Back pain 
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 HP:0003557 Increased variability in muscle fiber size "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003676 Progressive disorder 
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 HP:0003678 Rapidly progressive 
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 HP:0003691 Scapular winging 
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 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
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 HP:0003704 Scapuloperoneal weakness 
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 HP:0003715 Muscle biopsy shows myofibrillar myopathy 
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 HP:0003805 Rimmed vacuoles 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0008075 Progressive pes cavus 
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 HP:0008141 Dislocation of toes 
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 HP:0009027 Foot dorsiflexor weakness 
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 HP:0009042 Marked muscular hypertrophy "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators]
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 HP:0009054 Scapuloperoneal myopathy 
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 HP:0009473 Joint contractures involving the joints of the hand 
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr