KEGG   Homo sapiens (human): 81
Entry
81                CDS       T01001                                 

Gene name
ACTN4, ACTININ-4, FSGS, FSGS1
Definition
(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
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)
  09163 Immune disease
   05322 Systemic lupus erythematosus
    81 (ACTN4)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    81 (ACTN4)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    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 CAMSAP_CH EF-hand_7 EF-hand_8
Other DBs
NCBI-GeneID: 81
NCBI-ProteinID: NP_004915
OMIM: 604638
HGNC: 166
Ensembl: ENSG00000130402
Vega: OTTHUMG00000137382
Pharos: O43707(Tbio)
UniProt: O43707 A0A0S2Z3G9
Structure
PDB: 
1YDI 2R0O 1WLX

Position
19q13.2
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

KEGG   Homo sapiens (human): 87
Entry
87                CDS       T01001                                 

Gene name
ACTN1, BDPLT15
Definition
(RefSeq) actinin alpha 1
  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
Disease
H01740  Macrothrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    87 (ACTN1)
   04520 Adherens junction
    87 (ACTN1)
   04530 Tight junction
    87 (ACTN1)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    87 (ACTN1)
 09150 Organismal Systems
  09151 Immune system
   04670 Leukocyte transendothelial migration
    87 (ACTN1)
 09160 Human Diseases
  09161 Cancer: overview
   05203 Viral carcinogenesis
    87 (ACTN1)
  09163 Immune disease
   05322 Systemic lupus erythematosus
    87 (ACTN1)
  09171 Infectious disease: bacterial
   05131 Shigellosis
    87 (ACTN1)
  09174 Infectious disease: parasitic
   05146 Amoebiasis
    87 (ACTN1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    87 (ACTN1)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    87 (ACTN1)
   04147 Exosome [BR:hsa04147]
    87 (ACTN1)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    87 (ACTN1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     87 (ACTN1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   87 (ACTN1)
  Exosomal proteins of colorectal cancer cells
   87 (ACTN1)
  Exosomal proteins of bladder cancer cells
   87 (ACTN1)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen EF-hand_1 EF-hand_6 EF-hand_7 CAMSAP_CH EF-hand_8 EF-hand_5 XisI
Other DBs
NCBI-GeneID: 87
NCBI-ProteinID: NP_001093
OMIM: 102575
HGNC: 163
Ensembl: ENSG00000072110
Vega: OTTHUMG00000171386
Pharos: P12814(Tbio)
UniProt: P12814 A0A024R694
Structure
PDB: 
2EYI 2EYN 1YDI 2N8Y 2N8Z

Position
14q24.1; 14q22-q24
AA seq 892 aa
MDHYDSQQTNDYMQPEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFR
DGLKLMLLLEVISGERLAKPERGKMRVHKISNVNKALDFIASKGVKLVSIGAEEIVDGNV
KMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNIQNFHISWKDGLGFC
ALIHRHRPELIDYGKLRKDDPLTNLNTAFDVAEKYLDIPKMLDAEDIVGTARPDEKAIMT
YVSSFYHAFSGAQKAETAANRICKVLAVNQENEQLMEDYEKLASDLLEWIRRTIPWLENR
VPENTMHAMQQKLEDFRDYRRLHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGRM
VSDINNAWGCLEQVEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLRQK
DYETATLSEIKALLKKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSPSVNARCQKIC
DQWDNLGALTQKRREALERTEKLLETIDQLYLEYAKRAAPFNNWMEGAMEDLQDTFIVHT
IEEIQGLTTAHEQFKATLPDADKERLAILGIHNEVSKIVQTYHVNMAGTNPYTTITPQEI
NGKWDHVRQLVPRRDQALTEEHARQQHNERLRKQFGAQANVIGPWIQTKMEEIGRISIEM
HGTLEDQLSHLRQYEKSIVNYKPKIDQLEGDHQLIQEALIFDNKHTNYTMEHIRVGWEQL
LTTIARTINEVENQILTRDAKGISQEQMNEFRASFNHFDRDHSGTLGPEEFKACLISLGY
DIGNDPQGEAEFARIMSIVDPNRLGVVTFQAFIDFMSRETADTDTADQVMASFKILAGDK
NYITMDELRRELPPDQAEYCIARMAPYTGPDSVPGALDYMSFSTALYGESDL
NT seq 2679 nt   +upstreamnt  +downstreamnt
atggaccattatgattctcagcaaaccaacgattacatgcagccagaagaggactgggac
cgggacctgctcctggacccggcctgggagaagcagcagagaaagacattcacggcatgg
tgtaactcccacctccggaaggcggggacacagatcgagaacatcgaagaggacttccgg
gatggcctgaagctcatgctgctgctggaggtcatctcaggtgaacgcttggccaagcca
gagcgaggcaagatgagagtgcacaagatctccaacgtcaacaaggccctggatttcata
gccagcaaaggcgtcaaactggtgtccatcggagccgaagaaatcgtggatgggaatgtg
aagatgaccctgggcatgatctggaccatcatcctgcgctttgccatccaggacatctcc
gtggaagagacttcagccaaggaagggctgctcctgtggtgtcagagaaagacagcccct
tacaaaaatgtcaacatccagaacttccacataagctggaaggatggcctcggcttctgt
gctttgatccaccgacaccggcccgagctgattgactacgggaagctgcggaaggatgat
ccactcacaaatctgaatacggcttttgacgtggcagagaagtacctggacatccccaag
atgctggatgccgaagacatcgttggaactgcccgaccggatgagaaagccatcatgact
tacgtgtctagcttctaccacgccttctctggagcccagaaggcggagacagcagccaat
cgcatctgcaaggtgttggccgtcaaccaggagaacgagcagcttatggaagactacgag
aagctggccagtgatctgttggagtggatccgccgcacaatcccgtggctggagaaccgg
gtgcccgagaacaccatgcatgccatgcaacagaagctggaggacttccgggactaccgg
cgcctgcacaagccgcccaaggtgcaggagaagtgccagctggagatcaacttcaacacg
ctgcagaccaagctgcggctcagcaaccggcctgccttcatgccctctgagggcaggatg
gtctcggacatcaacaatgcctggggctgcctggagcaggtggagaagggctatgaggag
tggttgctgaatgagatccggaggctggagcgactggaccacctggcagagaagttccgg
cagaaggcctccatccacgaggcctggactgacggcaaagaggccatgctgcgacagaag
gactatgagaccgccaccctctcggagatcaaggccctgctcaagaagcatgaggccttc
gagagtgacctggctgcccaccaggaccgtgtggagcagattgccgccatcgcacaggag
ctcaatgagctggactattatgactcacccagtgtcaacgcccgttgccaaaagatctgt
gaccagtgggacaatctgggggccctaactcagaagcgaagggaagctctggagcggacc
gagaaactgctggagaccattgaccagctgtacttggagtatgccaagcgggctgcaccc
ttcaacaactggatggagggggccatggaggacctgcaggacaccttcattgtgcacacc
attgaggagatccagggactgaccacagcccatgagcagttcaaggccaccctccctgat
gccgacaaggagcgcctggccatcctgggcatccacaatgaggtgtccaagattgtccag
acctaccacgtcaatatggcgggcaccaacccctacacaaccatcacgcctcaggagatc
aatggcaaatgggaccacgtgcggcagctggtgcctcggagggaccaagctctgacggag
gagcatgcccgacagcagcacaatgagaggctacgcaagcagtttggagcccaggccaat
gtcatcgggccctggatccagaccaagatggaggagatcgggaggatctccattgagatg
catgggaccctggaggaccagctcagccacctgcggcagtatgagaagagcatcgtcaac
tacaagccaaagattgatcagctggagggcgaccaccagctcatccaggaggcgctcatc
ttcgacaacaagcacaccaactacaccatggagcacatccgtgtgggctgggagcagctg
ctcaccaccatcgccaggaccatcaatgaggtagagaaccagatcctgacccgggatgcc
aagggcatcagccaggagcagatgaatgagttccgggcctccttcaaccactttgaccgg
gatcactccggcacactgggtcccgaggagttcaaagcctgcctcatcagcttgggttat
gatattggcaacgacccccagggagaagcagaatttgcccgcatcatgagcattgtggac
cccaaccgcctgggggtagtgacattccaggccttcattgacttcatgtcccgcgagaca
gccgacacagatacagcagaccaagtcatggcttccttcaagatcctggctggggacaag
aactacattaccatggacgagctgcgccgcgagctgccacccgaccaggctgagtactgc
atcgcgcggatggccccctacaccggccccgactccgtgccaggtgctctggactacatg
tccttctccacggcgctgtacggcgagagtgacctctaa

KEGG   Homo sapiens (human): 88
Entry
88                CDS       T01001                                 

Gene name
ACTN2, CMD1AA, CMH23, MPD6, MYOCOZ
Definition
(RefSeq) actinin alpha 2
  KO
K21073  actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00294  Dilated cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    88 (ACTN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    88 (ACTN2)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    88 (ACTN2)
   04147 Exosome [BR:hsa04147]
    88 (ACTN2)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    88 (ACTN2)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     88 (ACTN2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   88 (ACTN2)
  Exosomal proteins of colorectal cancer cells
   88 (ACTN2)
  Exosomal proteins of bladder cancer cells
   88 (ACTN2)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen CAMSAP_CH EF-hand_1 EF-hand_8 EF-hand_7 EF-hand_6 XisI Nsp1_C EF-hand_11 HisKA_2
Other DBs
NCBI-GeneID: 88
NCBI-ProteinID: NP_001094
OMIM: 102573
HGNC: 164
Ensembl: ENSG00000077522
Vega: OTTHUMG00000040059
Pharos: P35609(Tbio)
UniProt: P35609
Structure
PDB: 

Position
1q43
AA seq 894 aa
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIE
NIEEDFRNGLKLMLLLEVISGERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAE
EIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNIQNFHTSW
KDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP
DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRT
IPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAF
MPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGK
EQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN
DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQ
DMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYS
TVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEI
ARSSIQITGALEDQMNQLKQYEHNIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI
RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRA
CLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILAS
DKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL
NT seq 2685 nt   +upstreamnt  +downstreamnt
atgaaccagatagagcccggcgtgcagtacaactacgtgtacgacgaggatgagtacatg
atccaggaggaggagtgggaccgcgacctgctcctggacccagcctgggagaagcagcag
aggaagaccttcactgcctggtgtaactcccacctaaggaaagccggcacccagattgag
aacatcgaggaagacttcaggaatggccttaagctcatgctgcttttggaagtcatctca
ggggaaaggctgcccaaacctgaccggggaaaaatgcggttccacaaaattgctaatgtc
aacaaagctttggattacatagccagcaaaggggtgaaactggtgtccattggcgctgaa
gaaattgttgatggcaacgtgaaaatgaccctgggtatgatctggaccatcatccttcgc
tttgctattcaggatatttcggttgaagaaacatctgccaaagaaggtctgctgctttgg
tgtcagaggaaaactgctccttatagaaatgtgaacattcagaacttccatactagctgg
aaagatggccttggactctgtgccctcatccaccgacaccggcctgacctcattgactac
tcaaagcttaacaaggatgaccccataggaaatattaacctggccatggaaatcgctgag
aagcacctggatattcctaaaatgttggatgctgaagacatcgtgaacacccctaaaccc
gatgaaagagccatcatgacgtacgtctcttgcttctaccacgcttttgcgggcgcggag
caggccgagacagcggctaacaggatatgtaaggttcttgctgtgaatcaagagaatgag
aggctgatggaagaatatgagaggctagcgagtgagcttttggaatggattcgtcgcacg
atcccctggctggagaaccggactcccgagaagaccatgcaagccatgcagaagaagctg
gaggacttccgggattaccgccggaagcacaagccacccaaggtgcaggagaaatgccag
ctggagatcaacttcaacacgctgcagaccaagctgcggatcagcaaccgtcctgccttc
atgccctccgagggcaagatggtgtcggatattgctggtgcctggcagaggctggagcag
gctgagaagggttacgaggagtggttgctcaatgagattcggagactggagcgcttggaa
cacctggctgagaagttcaggcagaaggcctcaacgcacgagacttgggcttatggcaaa
gagcagatcttgctgcagaaggattacgagtcggcgtcgctgacagaggtgcgggctctg
ctgcggaagcacgaggcgttcgagagcgacctggcagcgcaccaggaccgcgtggagcag
atcgcagccatcgcgcaggagctcaatgaactggactatcacgacgctgtgaatgtcaat
gatcggtgccagaaaatttgtgaccagtgggaccgactgggaacgcttactcagaagagg
agagaagccctagagagaatggagaaattgctagaaaccattgatcagcttcacctggag
tttgccaagagggctgctcctttcaacaattggatggagggcgctatggaggatctgcaa
gatatgttcattgtccacagcattgaggagatccagagtctgatcactgcgcatgagcag
ttcaaggccacgctgcccgaggcggacggagagcggcagtccatcatggccatccagaac
gaggtggagaaggtgattcagagctacaacatcagaatcagctcaagcaacccgtacagc
actgtcaccatggatgagctccggaccaagtgggacaaggtgaagcaactcgtgcccatc
cgcgatcaatccctgcaggaggagctggctcgccagcatgctaacgagcgtctgaggcgc
cagtttgctgcccaagccaatgccattgggccctggatccagaacaagatggaggagatt
gcccggagctccatccagatcacaggagccctggaagaccagatgaaccagctgaagcag
tatgagcacaacatcatcaactataagaacaacatcgacaagctggagggagaccatcag
ctcatccaggaggcccttgtctttgacaacaagcacacgaactacacgatggagcacatt
cgtgttggatgggagctgctgctgacaaccatcgccagaaccatcaatgaggtggagact
cagatcctgacgagagatgcgaagggcatcacccaggagcagatgaatgagttcagagcc
tccttcaaccactttgacaggaggaagaatggcctgatggatcatgaggatttcagagcc
tgcctgatttccatgggttatgacctgggtgaagccgaatttgcccgcattatgaccctg
gtagatcccaacgggcaaggcaccgtcaccttccaatccttcatcgacttcatgactaga
gagacggctgacaccgacactgccgagcaggtcatcgcctccttccggatcctggcttct
gataagccatacatcctggcggaggagctgcgtcgggagctgcccccggatcaggcccag
tactgcatcaagaggatgcccgcctactcgggcccaggcagtgtgcctggtgcactggat
tacgctgcgttctcttccgcactctacggggagagcgatctgtga

KEGG   Homo sapiens (human): 89
Entry
89                CDS       T01001                                 

Gene name
ACTN3, ACTN3D
Definition
(RefSeq) actinin alpha 3
  KO
K21073  actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    89 (ACTN3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    89 (ACTN3)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    89 (ACTN3)
   04147 Exosome [BR:hsa04147]
    89 (ACTN3)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    89 (ACTN3)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     89 (ACTN3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   89 (ACTN3)
  Exosomal proteins of colorectal cancer cells
   89 (ACTN3)
  Exosomal proteins of bladder cancer cells
   89 (ACTN3)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen CAMSAP_CH EF-hand_7 EF-hand_1 EF-hand_6 EF-hand_8 PRP9_N
Other DBs
NCBI-GeneID: 89
NCBI-ProteinID: NP_001095
OMIM: 102574
HGNC: 165
Ensembl: ENSG00000248746
Vega: OTTHUMG00000160815
Pharos: Q08043(Tbio)
UniProt: Q08043 B4DZQ2
Structure
PDB: 
1WKU 1TJT 3LUE

Position
11q13.2
AA seq 901 aa
MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR
KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK
LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV
QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED
IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL
LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR
LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY
HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD
GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP
CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI
QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT
VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM
EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD
L
NT seq 2706 nt   +upstreamnt  +downstreamnt
atgatgatggttatgcagcccgagggtctgggggccggggaggggcgctttgcgggcggc
ggcgggggcggcgagtacatggaacaggaggaggactgggaccgcgacctgctgctggac
ccggcctgggagaagcagcagcggaaaaccttcactgcctggtgcaactcacacctgcgc
aaggcaggcacccagatcgagaacatcgaggaagatttccgcaatggcctcaaactcatg
ctgctcctggaggtcatttcaggtgagaggctgcctaggccagataaaggcaagatgcgc
ttccacaaaatcgccaacgttaacaaggccctggacttcattgccagcaagggggttaaa
ctggtgtccattggtgctgaagagattgttgacgggaacctgaagatgaccctgggcatg
atctggaccatcatccttcgcttcgccatccaggacatctctgtggaagaaacctcagcc
aaggaaggcttgcttctgtggtgccagaggaagacagcaccgtaccgcaacgtcaacgtg
cagaacttccacaccagctggaaggatggcctggccctctgtgccctcatccaccgacac
cgccctgacctcatcgactacgccaaactgcgaaaggatgaccccatcggaaacctgaac
actgcctttgaggtggcagagaaatacctggacatccccaagatgttggatgcagaagac
attgtgaacaccccaaagccggatgagaaggccatcatgacctatgtgtcctgcttctac
catgcctttgccggggctgagcaggcagagacagctgccaacaggatctgcaaggtgctg
gcagtgaaccaggaaaacgagaagctgatggaggagtatgagaagcttgccagtgagctg
ctggagtggatccgccgcactgtcccatggctggagaaccgtgtgggtgagcccagcatg
agtgccatgcagcgcaaactagaggactttcgggactaccggcgtctgcacaagccgccc
cgcattcaggaaaagtgccagctggagatcaacttcaacacactgcagaccaagttgcgg
ctcagccaccggcctgccttcatgccctccgagggcaagctggtctcggacatcgccaac
gcctggcgggggctggagcaggtggaaaagggctatgaggactggctgctctcggagatc
cggcgcctgcagcgactccagcacctggctgagaagttccggcagaaggcctccctgcac
gaagcctggacccggggaaaggaggagatgctgagccagcgcgactacgattcggctttg
ctacaggaggtgcgggcgttgctgcggcgccacgaggcctttgagagcgacctggcggcg
caccaggaccgcgtggagcacattgccgcgctggcccaggagctcaatgagctggactac
cacgaggcagcctcagtgaatagccgctgccaggccatctgcgatcagtgggacaacctg
ggcaccctgacccagaagaggcgggatgcgctagagcggatggagaagctcctggagacc
attgaccggctgcaactggagtttgcccggcgggccgcgcccttcaacaactggctggat
ggtgccgtggaggacctgcaggacgtgtggctggtacactctgtggaggagacccagagc
ctgctgacagcgcacgatcagttcaaggcaacactgcccgaggctgaccgagagcgaggt
gccatcatgggcatccagggtgagatccagaagatctgccagacgtatgggctgcggccc
tgctccaccaatccctacatcaccctcagcccgcaggacatcaacaccaagtgggatatg
gtccgaaagctggtgcccagctgtgaccagacactgcaggaggagctggcacggcagcag
gtaaacgagaggctccggcgacagtttgcggcccaggccaatgccattggaccctggatc
caggcgaaggtggaggaagtggggcggctggcagcagggctagctggctctctggaggag
cagatggctgggctacggcagcaggagcagaacattatcaactacaagactaacattgac
cggctggagggtgaccaccagctgctgcaggagagcctggtgttcgacaataagcacacc
gtctacagcatggagcacatccgcgtgggctgggagcagctgctcacctccattgcccgc
accatcaatgaagtggagaaccaggtactgacccgagacgccaagggactgagccaggag
cagctcaacgagttccgagcatccttcaaccactttgacaggaagcagaatgggatgatg
gagcctgatgacttccgagcttgcctcatctccatgggctatgacctgggggaagtggag
tttgctcgcatcatgaccatggtggaccccaacgcagctggggtggtgaccttccaggcc
ttcatagacttcatgacccgagagacagccgagactgacacgactgagcaagttgtagct
tccttcaagatcttggcaggagacaagaactacatcacccccgaggagctgcggcgcgag
ctccctgccaagcaggccgagtactgcatccgccgtatggtgccctacaagggatccggg
gccccggctggagccctggactacgtggccttctccagtgccctctatggggagagcgac
ctttga

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