ACTN1
entrez
87
canonical
uniprot
P12814
canonical
ensembl
ENSG00000072110
resolver
ensp
ENSP00000193403
resolver
ensp
ENSP00000366035
resolver
ensp
ENSP00000377941
resolver
ensp
ENSP00000414272
resolver
ensp
ENSP00000439828
resolver
ensp
ENSP00000504355
resolver
ensp
ENSP00000506977
resolver
ensp
ENSP00000508177
resolver
ensp
ENSP00000508329
resolver
ensp
ENSP00000574883
resolver
ensp
ENSP00000574884
resolver
ensp
ENSP00000574888
resolver
ensp
ENSP00000617450
resolver
enst
ENST00000376839
resolver
enst
ENST00000679147
resolver
enst
ENST00000682331
resolver
enst
ENST00000683225
resolver
enst
ENST00000684182
resolver
genesymbol
ACTN1
resolver
hgnc
HGNC:163
resolver
uniprot
A0A024R694
resolver
uniprot
A0A7I2V4Y4
resolver
uniprot
A0A804HL31
resolver
uniprot
A0A804HLF4
resolver
uniprot
B3V8S3
resolver
uniprot
B4DHH3
resolver
uniprot
B7TY16
resolver
uniprot
H9KV75
resolver
uniprot
Q1HE25
resolver
uniprot
Q9BTN1
resolver
uniprot_entry
A0A024R694_HUMAN
resolver
uniprot_entry
A0A7I2V4Y4_HUMAN
resolver
uniprot_entry
A0A804HL31_HUMAN
resolver
uniprot_entry
A0A804HLF4_HUMAN
resolver
uniprot_entry
ACTN1_HUMAN
resolver
uniprot_entry
H9KV75_HUMAN
resolver
uniprot_sec
B3V8S3
resolver
uniprot_sec
B4DHH3
resolver
uniprot_sec
B7TY16
resolver
uniprot_sec
Q1HE25
resolver
uniprot_sec
Q9BTN1
resolver
amino_acid_sequence
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRDGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFCALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENRVPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRMVSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQKDYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKICDQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHTIEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEINGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEMHGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGYDIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDKNYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL
uniprot
proteins
disease_involvement
DISEASE: Bleeding disorder, platelet-type, 15 (BDPLT15) [MIM:615193]: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. {ECO:0000269|PubMed:23434115, ECO:0000269|PubMed:24069336}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Association with IGSF8 regulates the immune synapse formation and is required for efficient T-cell activation (PubMed:22689882). {ECO:0000269|PubMed:22689882}.
uniprot
proteins
mass_dalton
103058
uniprot
proteins
protein_family
Alpha-actinin family
uniprot
proteins
pubmed
10369880
uniprot
proteins
pubmed
11114196
uniprot
proteins
pubmed
11369769
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
12615977
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16464232
uniprot
proteins
pubmed
16698282
uniprot
proteins
pubmed
18353764
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
2169343
uniprot
proteins
pubmed
22689882
uniprot
proteins
pubmed
23434115
uniprot
proteins
pubmed
2349951
uniprot
proteins
pubmed
24069336
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
2780298
uniprot
proteins
pubmed
7750553
uniprot
proteins
pubmed
8713105
uniprot
proteins
sequence_length
892
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24069336, ECO:0000269|PubMed:7750553}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:7750553}. Cell membrane {ECO:0000269|PubMed:22689882}. Cell junction {ECO:0000250|UniProtKB:Q9Z1P2}. Cell projection, ruffle {ECO:0000250|UniProtKB:Q7TPR4}. Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures. {ECO:0000250|UniProtKB:Q7TPR4}.
uniprot
proteins