KEGG   Homo sapiens (human): 4644
Entry
4644              CDS       T01001                                 
Symbol
MYO5A, GS1, MYH12, MYO5, MYR12
Name
(RefSeq) myosin VA
  KO
K10357  myosin V
Organism
hsa  Homo sapiens (human)
Pathway
hsa04814  Motor proteins
hsa05130  Pathogenic Escherichia coli infection
Network
nt06541  Cytoskeleton in neurons
  Element
N01851  MYO5A-mediated vesicle transport
Disease
H02022  Griscelli syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04814 Motor proteins
    4644 (MYO5A)
 09160 Human Diseases
  09171 Infectious disease: bacterial
   05130 Pathogenic Escherichia coli infection
    4644 (MYO5A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    4644 (MYO5A)
   04131 Membrane trafficking [BR:hsa04131]
    4644 (MYO5A)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    4644 (MYO5A)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    4644 (MYO5A)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Factors involved in mRNA localization
    Cargo complex
     4644 (MYO5A)
   mRNA cycle factors
    P-body specific factors
     4644 (MYO5A)
Membrane trafficking [BR:hsa04131]
 Others
  Actin-binding proteins
   Myosins
    4644 (MYO5A)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Retention of mitochondria
    4644 (MYO5A)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Myosins
     4644 (MYO5A)
SSDB
Motif
Pfam: Myosin_head DIL IQ Csm1_N AAA_16 Myosin_N AAA_22 NPHP3_N nSTAND3 DUF5382
Other DBs
NCBI-GeneID: 4644
NCBI-ProteinID: NP_000250
OMIM: 160777
HGNC: 7602
Ensembl: ENSG00000197535
UniProt: Q9Y4I1 Q9UES4
Structure
LinkDB
Position
15:complement(52307283..52529050)
AA seq 1855 aa
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELP
HLRNPDILVGENDLTALSYLHEPAVLHNLRVRFIDSKLIYTYCGIVLVAINPYEQLPIYG
EDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMR
TYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVD
DAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CDLMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVN
QALHSAVKQHSFIGVLDIYGFETFEINSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKE
QIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAIS
PTSATSSGRTPLTRTPAKPTKGRPGQMAKEHKKTVGHQFRNSLHLLMETLNATTPHYVRC
IKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGW
LLRKKYLRMRKAAITMQRYVRGYQARCYAKFLRRTKAATIIQKYWRMYVVRRRYKIRRAA
TIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSE
TEKLRSDLERLQLSEEEAKVATGRVLSLQEEIAKLRKDLEQTRSEKKCIEEHADRYKQET
EQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRT
EEPSEKKVPLDMSLFLKLQKRVTELEQEKQVMQDELDRKEEQVLRSKAKEEERPQIRGAE
LEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNR
SSALDYHELNEDGELWLVYEGLKQANRLLESQLQSQKRSHENEAEALRGEIQSLKEENNR
QQQLLAQNLQLPPEARIEASLQHEITRLTNENLDLMEQLEKQDKTVRKLKKQLKVFAKKI
GELEVGQMENISPGQIIDEPIRPVNIPRKEKDFQGMLEYKKEDEQKLVKNLILELKPRGV
AVNLIPGLPAYILFMCVRHADYLNDDQKVRSLLTSTINSIKKVLKKRGDDFETVSFWLSN
TCRFLHCLKQYSGEEGFMKHNTSRQNEHCLTNFDLAEYRQVLSDLAIQIYQQLVRVLENI
LQPMIVSGMLEHETIQGVSGVKPTGLRKRTSSIADEGTYTLDSILRQLNSFHSVMCQHGM
DPELIKQVVKQMFYIIGAITLNNLLLRKDMCSWSKGMQIRYNVSQLEEWLRDKNLMNSGA
KETLEPLIQAAQLLQVKKKTDDDAEAICSMCNALTTAQIVKVLNLYTPVNEFEERVSVSF
IRTIQMRLRDRKDSPQLLMDAKHIFPVTFPFNPSSLALETIQIPASLGLGFISRV
NT seq 5568 nt   +upstreamnt  +downstreamnt
atggctgcgtcggagctctacacaaagtttgccagggtttggatacctgatccagaggaa
gtctggaagtcagcagagctgctcaaagattataagccaggagataaagtcctcctgctt
cacctcgaggaaggaaaggatttggaataccatctagatccaaagaccaaggagctgcct
cacttacgaaatcctgacatacttgttggtgaaaatgacctcacagccctcagctatctt
catgagcctgctgtgctccataatctcagagtccgctttattgattccaaacttatttat
acgtattgtggtatagtcctagtagctataaatccctatgaacagctgcctatttatgga
gaagatattattaatgcatacagtggtcagaacatgggtgatatggatccacatatcttt
gcagtagctgaagaagcttacaagcaaatggccagagatgaacgaaatcagtccatcatc
gtaagtggagagtctggggcaggaaaaacagtctcagctaagtatgccatgcgatacttt
gcaactgtgagtggttctgccagtgaggccaatgtggaggaaaaggtcttggcctccaac
cccatcatggagtccattggaaatgctaaaacaaccaggaatgataatagcagccgtttt
gggaagtatattgagattggttttgataagagatatcgaatcattggtgccaatatgaga
acttatcttttagagaaatccagagtggtattccaggcagaagaggagagaaactatcat
atcttctatcagctttgtgcctcagcaaagttacctgaatttaaaatgctacgattagga
aatgcagataactttaattacacaaaacaaggaggcagtcctgtgattgaaggagtggat
gatgcaaaggagatggcacatactaggcaggcctgcactttgctaggaattagtgaatct
catcaaatgggaattttccgaatacttgctggcatccttcacttaggcaatgttggattt
acatcccgagatgcagacagctgcacaatacctcccaagcatgaacctctctgcatcttc
tgtgacctcatgggtgtggactatgaggagatgtgtcactggctctgccatcggaaactg
gctactgccacagagacatacatcaagcccatctccaagctgcaggccacgaatgcccgc
gatgctttggccaagcacatctatgccaagctctttaactggattgtagataatgtcaat
caggctctccattctgctgtcaaacagcactcttttattggtgtgctagacatttacgga
tttgaaacatttgagataaatagttttgaacagttttgcataaattatgcaaatgaaaaa
ctacagcaacaattcaatatgcatgtcttcaaattggagcaagaagaatatatgaaggaa
caaattccatggacactcatagatttttatgataatcagccttgtattaatcttatagaa
tcaaaactaggcattctagatttactggatgaggaatgcaagatgcctaaaggcacagat
gacacctgggcccaaaaattgtacaacacacatttgaacaaatgtgcactctttgaaaag
cctcgtctatcaaacaaagctttcatcatccaacattttgctgacaaagtggaataccag
tgtgaaggatttctcgaaaagaataaagacaccgtttttgaagaacaaattaaagttctt
aaatcaagcaagtttaagatgctaccagaactatttcaagatgatgagaaggccatcagt
ccaacttcagccacctcctcagggcgcacacccctcacacgaactcctgcaaagcccacc
aaaggcagaccaggccaaatggccaaagagcacaagaaaacagtggggcatcagttcaga
aactccctgcacctgcttatggagacactcaatgccactacccctcactatgtgcgctgt
atcaagcctaatgacttcaagttcccattcacgtttgatgagaagagggcagtgcagcag
ctgagagcatgtggtgtcctggaaaccatccgaatcagtgcggccggtttcccctcacgg
tggacttaccaagaatttttcagccgctaccgtgtcctaatgaagcagaaagatgtgctg
agtgacagaaagcaaacatgcaagaatgtgttagagaaactgatactggacaaggacaaa
taccagtttggtaagacaaagatctttttccgtgccggtcaagtggcctatctagaaaaa
ttgagagctgacaaactgagagctgcctgcatccggatccagaagaccatccgagggtgg
ctgctgagaaagaagtacctacgcatgcggaaggcagccatcaccatgcagagatacgtg
cggggctaccaggcccgatgctatgctaagtttctgcgcagaaccaaggcagcaaccatc
attcaaaagtactggcgcatgtatgtggtccgcaggaggtacaagattagacgagctgcc
actattgttcttcagtcttacttgcgaggcttcttggccagaaataggtatcgcaagata
ctccgtgagcacaaagcagtcatcattcagaagcgagtccggggctggctggcccgcaca
cactacaagaggagcatgcatgccatcatctaccttcagtgctgcttcaggcggatgatg
gccaagcgtgagctaaagaagctcaaaatcgaggctcgctcagtggagcgctataagaag
ctgcacatcggcatggagaacaagatcatgcagctgcagcgcaaagttgatgagcagaac
aaagactacaaatgccttgtggagaaactaaccaatctggaaggaatatacaactctgag
actgagaaactacgaagtgacttagaacgtcttcaactaagtgaagaggaagcgaaagtt
gccactgggcgggtccttagtctgcaggaagaaattgccaagctccggaaagacctggag
caaactcgttcagagaaaaaatgcattgaggaacatgcagatcgatacaaacaagaaaca
gagcagctggtatcaaatctgaaggaagaaaatactttgctgaagcaagaaaaagaagcc
ctcaatcaccgcatcgtgcagcaggctaaggagatgacagaaactatggagaagaagtta
gtagaagaaacgaaacaactggaactcgaccttaatgatgaaaggctgagatatcagaac
cttctgaatgagttcagtcgcctggaagaaagatatgatgacctcaaggaagagatgacc
cttatggtgcatgtgcctaagcctggacacaagagaacagactccacccacagcagcaac
gagtctgaatatatctttagctctgaaattgcagaaatggaagacattccatcaaggaca
gaggaaccaagtgagaagaaggtacctctggacatgtcattgttccttaagctccagaag
cgggtcacagagctggagcaggagaagcaggtgatgcaggatgagctggaccgcaaggag
gagcaggtgctccgcagcaaggccaaggaagaagaaagaccacaaattagaggtgcagaa
ctggaatatgagtcactcaagcgtcaagaactagaatcagaaaacaaaaaactgaagaat
gagctaaatgagttgcgcaaggccctcagtgagaaaagtgccccagaggtgaccgcccca
ggtgcacctgcctaccgtgtcctcatggagcagctgacctctgtgagcgaggagcttgat
gtccgcaaggaggaagtcctcatcttaaggtctcaactggtgagccagaaagaggccatc
caacccaaggatgacaagaatacaatgacagattccacaatacttttggaagatgtacaa
aaaatgaaagataaaggtgaaatagcacaagcatacattggtttgaaagaaacaaataga
tcatctgctctggattaccatgagttgaatgaggatggagagctgtggctggtttatgaa
gggttaaaacaagccaacaggctcctggaatcccagctgcagtcacagaagaggagccat
gagaatgaggccgaggccctccgtggggagatccagagcctgaaggaggagaacaaccga
cagcagcagctgctggcccagaacctgcagctgcccccagaggcccgcattgaggccagc
ctgcagcacgagatcacccggctgaccaacgaaaacttggatttgatggaacaacttgaa
aaacaggataagacggtccgtaaactgaaaaaacaactgaaagtatttgccaaaaaaatt
ggcgaactagaagtgggccagatggagaacatatccccaggacagatcattgatgaaccc
atccgaccagtcaacattcccaggaaagaaaaggatttccaagggatgctggaatacaag
aaggaggatgagcaaaaacttgttaagaacctgattctggaactgaagccacgtggtgta
gcagtcaatttgattccaggattaccggcatatatcctgttcatgtgtgttcgacatgct
gactacctgaatgatgatcagaaagtaaggtcgttgctaacatcaacaattaacagcatc
aaaaaagtattgaagaaaagaggtgatgattttgaaaccgtctccttctggctctctaac
acatgccgatttttgcactgcttgaaacagtacagtggagaagagggctttatgaagcac
aacacatctcgccagaatgaacactgcctcaccaattttgacctggctgagtatcggcag
gtgctgagtgacttggccattcagatctaccagcagctcgtgcgggtgttagagaacatc
cttcagccaatgattgtctcaggcatgctggaacatgaaacgattcagggcgtgtctggg
gtgaagcccacagggttgagaaagcgaacctccagtatcgccgatgagggcacctacaca
ctggactccatcctccggcagctcaactccttccactcggtcatgtgtcagcatggcatg
gaccctgaactgatcaagcaggtggtcaagcagatgttctacatcataggggccatcacc
ctgaacaaccttctcctgcggaaggacatgtgctcctggagtaaaggcatgcagatcagg
tacaatgtcagtcaactggaagaatggctgcgtgacaagaatctgatgaatagtggggct
aaagaaaccctggaacctctcattcaggctgctcaacttttgcaagtgaaaaagaaaaca
gatgatgatgcagaagccatttgttctatgtgcaatgctttaactactgcccagattgtg
aaagtgttgaatttgtatactccagttaatgagtttgaagaaagagtctctgtgtcgttc
attcgtactatacagatgcgtttacgagacaggaaagactctccccagctgctcatggat
gctaaacacatctttcctgtcacctttcctttcaacccatcttccctcgcactagaaacc
atccagattccagccagcctcggcctgggcttcatttcacgggtctga

KEGG   Homo sapiens (human): 79083
Entry
79083             CDS       T01001                                 
Symbol
MLPH, SLAC2-A
Name
(RefSeq) melanophilin
  KO
K22235  melanophilin
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01851  MYO5A-mediated vesicle transport
Disease
H02022  Griscelli syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    79083 (MLPH)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    79083 (MLPH)
SSDB
Motif
Pfam: FYVE_2 Rab_eff_C FYVE
Other DBs
NCBI-GeneID: 79083
NCBI-ProteinID: NP_077006
OMIM: 606526
HGNC: 29643
Ensembl: ENSG00000115648
UniProt: Q9BV36
LinkDB
Position
2:237486410..237555322
AA seq 600 aa
MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLN
ETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEW
YYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQ
PFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHK
AEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRN
EQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLEN
TVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS
VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAE
SEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKA
MAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS
NT seq 1803 nt   +upstreamnt  +downstreamnt
atggggaagaaactggatctttccaagctcactgatgaagaggcccagcatgtcttggaa
gttgttcaacgagattttgacctccgaaggaaagaagaggaacggctagaggcgttgaag
ggcaagattaagaaggaaagctccaagagggagctgctttccgacactgcccatctgaac
gagacccactgcgcccgctgcctgcagccctaccagctgcttgtgaatagcaaaaggcag
tgcctggaatgtggcctcttcacctgcaaaagctgtggccgcgtccacccggaggagcag
ggctggatctgtgacccctgccatctggccagagtcgtgaagatcggctcactggagtgg
tactatgagcatgtgaaagcccgcttcaagaggttcggaagtgccaaggtcatccggtcc
ctccacgggcggctgcagggtggagctgggcctgaactgatatctgaagagagaagtgga
gacagcgaccagacagatgaggatggagaacctggctcagaggcccaggcccaggcccag
ccctttggcagcaaaaaaaagcgcctcctctccgtccacgacttcgacttcgagggagac
tcagatgactccactcagcctcaaggtcactccctgcacctgtcctcagtccctgaggcc
agggacagcccacagtccctcacagatgagtcctgctcagagaaggcagcccctcacaag
gctgagggcctggaggaggctgatactggggcctctgggtgccactcccatccggaagag
cagccgaccagcatctcaccttccagacacggcgccctggctgagctctgcccgcctgga
ggctcccacaggatggccctggggactgctgctgcactcgggtcgaatgtcatcaggaat
gagcagctgcccctgcagtacttggccgatgtggacacctctgatgaggaaagcatccgg
gctcacgtgatggcctcccaccattccaagcggagaggccgggcgtcttctgagagtcag
atctttgagctgaataagcatatttcagctgtggaatgcctgctgacctacctggagaac
acagttgtgcctcccttggccaagggtctaggtgctggagtgcgcacggaggccgatgta
gaggaggaggccctgaggaggaagctggaggagctgaccagcaacgtcagtgaccaggag
acctcgtccgaggaggaggaagccaaggacgaaaaggcagagcccaacagggacaaatca
gttgggcctctcccccaggcggacccggaggtgggcacggctgcccatcaaaccaacaga
caggaaaaaagcccccaggaccctggggaccccgtccagtacaacaggaccacagatgag
gagctgtcagagctggaggacagagtggcagtgacggcctcagaagtccagcaggcagag
agcgaggtttcagacattgaatccaggattgcagccctgagggccgcagggctcacggtg
aagccctcgggaaagccccggaggaagtcaaacctcccgatatttctccctcgagtggct
gggaaacttggcaagagaccagaggacccaaatgcagacccttcaagtgaggccaaggca
atggctgtgccctatcttctgagaagaaagttcagtaattccctgaaaagtcaaggtaaa
gatgatgattcttttgatcggaaatcagtgtaccgaggctcgctgacacagagaaacccc
aacgcgaggaaaggaatggccagccacaccttcgcgaaacctgtggtggcccaccagtcc
taa

KEGG   Homo sapiens (human): 5873
Entry
5873              CDS       T01001                                 
Symbol
RAB27A, GS2, HsT18676, RAB27, RAM
Name
(RefSeq) RAB27A, member RAS oncogene family
  KO
K07885  Ras-related protein Rab-27A
Organism
hsa  Homo sapiens (human)
Network
nt06541  Cytoskeleton in neurons
  Element
N01851  MYO5A-mediated vesicle transport
Disease
H02022  Griscelli syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    5873 (RAB27A)
  09183 Protein families: signaling and cellular processes
   04031 GTP-binding proteins [BR:hsa04031]
    5873 (RAB27A)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab GTPases
    5873 (RAB27A)
GTP-binding proteins [BR:hsa04031]
 Small (monomeric) G-proteins
  Rab Family
   Rab3/27 [OT]
    5873 (RAB27A)
SSDB
Motif
Pfam: Ras Roc Arf GTP_EFTU RsgA_GTPase MMR_HSR1 TPP_enzyme_M
Other DBs
NCBI-GeneID: 5873
NCBI-ProteinID: NP_004571
OMIM: 603868
HGNC: 9766
Ensembl: ENSG00000069974
UniProt: P51159 A2RU94
Structure
LinkDB
Position
15:complement(55202966..55319123)
AA seq 221 aa
MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGIDFREKRVVYRASGPDG
ATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLTNEQSFLNVRNWISQLQMH
AYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYFETSAANGTNISQAIEMLLDL
IMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGACGC
NT seq 666 nt   +upstreamnt  +downstreamnt
atgtctgatggagattatgattacctcatcaagtttttagctttgggagactctggtgta
gggaagaccagtgtactttaccaatatacagatggtaaatttaactccaaatttatcaca
acagtgggcattgatttcagggaaaaaagagtggtgtacagagccagtgggccggatgga
gccactggcagaggccagagaatccacctgcagttatgggacacagcagggcaggagagg
tttcgtagcttaacgacagcgttcttcagagatgctatgggttttcttctactttttgat
ctgacaaatgagcaaagtttcctcaatgtcagaaactggataagccagctacagatgcat
gcatattgtgaaaacccagatatagtgctgtgtggaaacaagagtgatctggaggaccag
agagtagtgaaagaggaggaagccatagcactcgcagagaaatatggaatcccctacttt
gaaactagtgctgccaatgggacaaacataagccaagcaattgagatgcttctggacctg
ataatgaagcgaatggaacggtgtgtggacaagtcctggattcctgaaggagtggtgcga
tcaaatggtcatgcctctacggatcagttaagtgaagaaaaggagaaaggggcatgtggc
tgttga

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