FHOD3
entrez
80206
canonical
uniprot
Q2V2M9
canonical
ensembl
ENSG00000134775
resolver
ensp
ENSP00000257209
resolver
ensp
ENSP00000352186
resolver
ensp
ENSP00000466937
resolver
ensp
ENSP00000468163
resolver
ensp
ENSP00000533163
resolver
ensp
ENSP00000533164
resolver
ensp
ENSP00000533166
resolver
ensp
ENSP00000533167
resolver
ensp
ENSP00000533173
resolver
ensp
ENSP00000533175
resolver
ensp
ENSP00000533176
resolver
genesymbol
FHOD3
resolver
genesymbol_syn
FHOS2
resolver
genesymbol_syn
KIAA1695
resolver
hgnc
HGNC:26178
resolver
uniprot
A8MQT4
resolver
uniprot
E5F5Q0
resolver
uniprot
Q642I2
resolver
uniprot
Q6ZRQ7
resolver
uniprot
Q86TF9
resolver
uniprot
Q8N3A5
resolver
uniprot
Q9C0G8
resolver
uniprot
Q9H604
resolver
uniprot
Q9H6G7
resolver
uniprot_entry
FHOD3_HUMAN
resolver
uniprot_sec
A8MQT4
resolver
uniprot_sec
E5F5Q0
resolver
uniprot_sec
Q642I2
resolver
uniprot_sec
Q6ZRQ7
resolver
uniprot_sec
Q86TF9
resolver
uniprot_sec
Q8N3A5
resolver
uniprot_sec
Q9C0G8
resolver
uniprot_sec
Q9H604
resolver
uniprot_sec
Q9H6G7
resolver
amino_acid_sequence
MATLACRVQFLDDTDPFNSTNFPEPSRPPLFTFREDLALGTQLAGVHRLLQAPHKLDDCTLQLSHNGAYLDLEATLAEQRDELEGFQDDAGRGKKHSIILRTQLSVRVHACIEKLYNSSGRDLRRALFSLKQIFQDDKDLVHEFVVAEGLTCLIKVGAEADQNYQNYILRALGQIMLYVDGMNGVINRNETIQWLYTLIGSKFRLVVKTALKLLLVFVEYSESNAPLLIQAVTAVDTKRGVKPWSNIMEILEEKDGVDTELLVYAMTLVNKTLSGLPDQDTFYDVVDCLEELGIAAVSQRHLNKKGTDLDLVEQLNIYEVALRHEDGDETTEPPPSGCRDRRRASVCSSGGGEHRGLDRRRSRRHSVQSIKSTLSAPTSPCSQSAPSFKPNQVRDLREKYSNFGNNSYHSSRPSSGSSVPTTPTSSVSPPQEARLERSSPSGLLTSSFRQHQESLAAERERRRQEREERLQRIEREERNKFRYKYLEQLAAEEHEKELRSRSVSRGRADLSLDLTSPAAPACLAPLSHSPSSSDSQEALTVSASSPGTPHHPQASAGDPEPESEAEPEAEAGAGQVADEAGQDIASAHEGAETEVEQALEQEPEERASLSEKERQNEGVNERDNCSASSVSSSSSTLEREEKEDKLSRDRTTGLWPAGVQDAGVNGQCGDILTNKRFMLDMLYAHNRKSPDDEEKGDGEAGRTQQEAEAVASLATRISTLQANSQTQDESVRRVDVGCLDNRGSVKAFAEKFNSGDLGRGSISPDAEPNDKVPETAPVQPKTESDYIWDQLMANPRELRIQDMDFTDLGEEDDIDVLDVDLGHREAPGPPPPPPPTFLGLPPPPPPPLLDSIPPPPVPGNLLVPPPPVFNAPQGLGWSQVPRGQPTFTKKKKTIRLFWNEVRPFDWPCKNNRRCREFLWSKLEPIKVDTSRLEHLFESKSKELSVSKKTAADGKRQEIIVLDSKRSNAINIGLTVLPPPRTIKIAILNFDEYALNKEGIEKILTMIPTDEEKQKIQEAQLANPEIPLGSAEQFLLTLSSISELSARLHLWAFKMDYETTEKEVAEPLLDLKEGIDQLENNKTLGFILSTLLAIGNFLNGTNAKAFELSYLEKVPEVKDTVHKQSLLHHVCTMVVENFPDSSDLYSEIGAITRSAKVDFDQLQDNLCQMERRCKASWDHLKAIAKHEMKPVLKQRMSEFLKDCAERIIILKIVHRRIINRFHSFLLFMGHPPYAIREVNINKFCRIISEFALEYRTTRERVLQQKQKRANHRERNKTRGKMITDSGKFSGSSPAPPSQPQGLSYAEDAAEHENMKAVLKTSSPSVEDATPALGVRTRSRASRGSTSSWTMGTDDSPNVTDDAADEIMDRIVKSATQVPSQRVVPRERKRSRANRKSLRRTLKSGLTPEEARALGLVGTSELQL
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 28 (CMH28) [MIM:619402]: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance. {ECO:0000269|PubMed:30442288, ECO:0000269|PubMed:31742804}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes. {ECO:0000250, ECO:0000269|PubMed:21149568}.
uniprot
proteins
mass_dalton
158613
uniprot
proteins
post_translational_modification
PTM: [Isoform 4]: Phosphorylated on Thr-1474 and Thr-1476 by CK2. {ECO:0000269|PubMed:21149568}.
uniprot
proteins
protein_family
Formin homology family
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15966898
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21149568
uniprot
proteins
pubmed
30442288
uniprot
proteins
pubmed
31742804
uniprot
proteins
sequence_length
1422
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21149568}. Note=Main part of the protein localizes to actin fibers and the remaining part displays filamentous staining. {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform 4]: Cytoplasm, myofibril, sarcomere, Z line. Note=Threonine phosphorylation in isoform 4-specific sequence TDTDEEEEVE is required for targeting to myofibrils in cardiomyocytes.
uniprot
proteins