KEGG   Homo sapiens (human): 81
Entry
81                CDS       T01001                                 
Symbol
ACTN4, ACTININ-4, FSGS, FSGS1
Name
(RefSeq) actinin alpha 4
  KO
K05699  actinin alpha 1/4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04510  Focal adhesion
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04670  Leukocyte transendothelial migration
hsa04810  Regulation of actin cytoskeleton
hsa05131  Shigellosis
hsa05146  Amoebiasis
hsa05203  Viral carcinogenesis
hsa05322  Systemic lupus erythematosus
Network
nt06182  Shigella
  Element
N01080  ITGA/B-TALIN/VINCULIN signaling pathway
N01082  Shigella IpaA to ITGA/B-TALIN/VINCULIN signaling pathway
Disease
H00626  Focal segmental glomerulosclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    81 (ACTN4)
   04520 Adherens junction
    81 (ACTN4)
   04530 Tight junction
    81 (ACTN4)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    81 (ACTN4)
 09150 Organismal Systems
  09151 Immune system
   04670 Leukocyte transendothelial migration
    81 (ACTN4)
 09160 Human Diseases
  09161 Cancer: overview
   05203 Viral carcinogenesis
    81 (ACTN4)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    81 (ACTN4)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    81 (ACTN4)
  09163 Immune disease
   05322 Systemic lupus erythematosus
    81 (ACTN4)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    81 (ACTN4)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    81 (ACTN4)
   04147 Exosome [BR:hsa04147]
    81 (ACTN4)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    81 (ACTN4)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     81 (ACTN4)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   81 (ACTN4)
  Exosomal proteins of colorectal cancer cells
   81 (ACTN4)
  Exosomal proteins of bladder cancer cells
   81 (ACTN4)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen EF-hand_1 EF-hand_6 EF-hand_7 EF-hand_8 XisI
Other DBs
NCBI-GeneID: 81
NCBI-ProteinID: NP_004915
OMIM: 604638
HGNC: 166
Ensembl: ENSG00000130402
Pharos: O43707(Tbio)
UniProt: O43707 A0A0S2Z3G9
Structure
Position
19:38647649..38731589
AA seq 911 aa
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWC
NSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIA
SKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKM
LDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEK
LASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQ
KASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQEL
NELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPF
NNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAES
NHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANV
VGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIF
DNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKD
HGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETT
DTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKS
FSTALYGESDL
NT seq 2736 nt   +upstreamnt  +downstreamnt
atggtggactaccacgcggcgaaccagtcgtaccagtacggccccagcagcgcgggcaat
ggcgctggcggcgggggcagcatgggcgactacatggcccaggaggacgactgggaccgg
gacctgctgctggacccggcctgggagaagcagcagcgcaagaccttcacggcatggtgc
aactcccacctgcggaaggcaggcacacagatcgagaacattgatgaggacttccgagac
gggctcaagctcatgctgctcctggaggtcatatcaggggagcggttacctaagccggag
cgggggaagatgagagtgcacaaaatcaacaatgtgaacaaagcgctggactttattgcc
agcaaaggcgtcaagctggtctccatcggggcagaagagattgtggacggcaacgcaaag
atgaccctgggaatgatctggaccatcatccttaggttcgccatccaggacatctccgtg
gaagagacctcggccaaggaagggctccttctctggtgccagagaaagacagccccgtat
aagaacgtcaatgtgcagaacttccacatcagctggaaggatggtcttgccttcaatgcc
ctgatccaccggcacagaccagagctgattgagtatgacaagctgaggaaggacgaccct
gtcaccaacctgaacaatgccttcgaagtggctgagaaatacctcgacatccccaagatg
ctggatgcagaggacatcgtgaacacggcccggcccgacgagaaggccataatgacctat
gtgtccagcttctaccatgccttttcaggagcgcagaaggctgaaactgccgccaaccgg
atctgtaaggtgctggctgtcaaccaagagaacgagcacctgatggaggactacgagaag
ctggccagcgacctcctggagtggatccggcgcaccatcccctggctggaggaccgtgtg
ccccaaaagactatccaggagatgcagcagaagctggaggacttccgcgactaccggcgt
gtgcacaagccgcccaaggtgcaggagaagtgccagctggagatcaacttcaacacgctg
cagaccaagctgcgcctcagcaaccggcccgccttcatgccctccgagggcaagatggtc
tcggacatcaacaatggctggcagcacttggagcaggctgagaagggctacgaggagtgg
ctgctgaatgagatccgcaggctggagcggctcgaccacctggcagagaagttccggcag
aaggcctccatccacgaggcctggactgacgggaaggaagccatgctgaagcaccgggac
tacgagacggccacactatcggacatcaaagccctcattcgcaagcacgaggccttcgag
agcgacctggctgcgcaccaggaccgcgtggagcagatcgccgccattgcccaggagctc
aacgagctggattactacgactcccacaatgtcaacacccggtgccagaagatctgtgac
cagtgggacgccctcggctctctgacacatagtcgcagggaagccctggagaaaacagag
aagcagctggaggccatcgaccagctgcacctggaatacgccaagcgcgcggcccccttc
aacaactggatggagagcgccatggaggacctccaggacatgttcatcgtccataccatc
gaggagattgagggcctgatctcagcccatgaccagttcaagtccaccctgccggacgcc
gatagggagcgcgaggccatcctggccatccacaaggaggcccagaggatcgctgagagc
aaccacatcaagctgtcgggcagcaacccctacaccaccgtcaccccgcaaatcatcaac
tccaagtgggagaaggtgcagcagctggtgccaaaacgggaccatgccctcctggaggag
cagagcaagcagcagtccaacgagcacctgcgccgccagttcgccagccaggccaatgtt
gtggggccctggatccagaccaagatggaggagatcgggcgcatctccattgagatgaac
gggaccctggaggaccagctgagccacctgaagcagtatgaacgcagcatcgtggactac
aagcccaacctggacctgctggagcagcagcaccagctcatccaggaggccctcatcttc
gacaacaagcacaccaactataccatggagcacatccgcgtgggctgggagcagctgctc
accaccattgcccgcaccatcaacgaggtggagaaccagatcctcacccgcgacgccaag
ggcatcagccaggagcagatgcaggagttccgggcgtccttcaaccacttcgacaaggat
catggcggggcgctggggcccgaggagttcaaggcctgcctcatcagcctgggctacgac
gtggagaacgaccggcagggtgaggccgagttcaaccgcatcatgagcctggtcgacccc
aaccatagcggccttgtgaccttccaagccttcatcgacttcatgtcgcgggagaccacc
gacacggacacggctgaccaggtcatcgcttccttcaaggtcttagcaggggacaagaac
ttcatcacagctgaggagctgcggagagagctgccccccgaccaggccgagtactgcatc
gcccgcatggcgccataccagggccctgacgccgtgcccggtgccctcgactacaagtcc
ttctccacggccttgtatggcgagagcgacctgtga

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