KEGG   Homo sapiens (human): 23258
Entry
23258             CDS       T01001                                 
Symbol
DENND5A, DEE49, EIEE49, RAB6IP1
Name
(RefSeq) DENN domain containing 5A
  KO
K20164  DENN domain-containing protein 5
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    23258 (DENND5A)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Rab GTPases and associated proteins
   Rab associated proteins
    23258 (DENND5A)
SSDB
Motif
Pfam: DENN RUN uDENN dDENN PLAT
Other DBs
NCBI-GeneID: 23258
NCBI-ProteinID: NP_056028
OMIM: 617278
HGNC: 19344
Ensembl: ENSG00000184014
UniProt: Q6IQ26
Position
11:complement(9138825..9265350)
AA seq 1287 aa
MSGGGGGGGSAPSRFADYFVICGLDTETGLEPDELSALCQYIQASKARDGASPFISSTTE
GENFEQTPLRRTFKSKVLARYPENVEWNPFDQDAVGMLCMPKGLAFKTQADPREPQFHAF
IITREDGSRTFGFALTFYEEVTSKQICSAMQTLYHMHNAEYDVLHAPPADDRDQSSMEDG
EDTPVTKLQRFNSYDISRDTLYVSKCICLITPMSFMKACRSVLEQLHQAVTSPQPPPLPL
ESYIYNVLYEVPLPPPGRSLKFSGVYGPIICQRPSTNELPLFDFPVKEVFELLGVENVFQ
LFTCALLEFQILLYSQHYQRLMTVAETITALMFPFQWQHVYVPILPASLLHFLDAPVPYL
MGLHSNGLDDRSKLELPQEANLCFVDIDNHFIELPEDLPQFPNKLEFVQEVSEILMAFGI
PPEGNLHCSESASKLKRLRASELVSDKRNGNIAGSPLHSYELLKENETIARLQALVKRTG
VSLEKLEVREDPSSNKDLKVQCDEEELRIYQLNIQIREVFANRFTQMFADYEVFVIQPSQ
DKESWFTNREQMQNFDKASFLSDQPEPYLPFLSRFLETQMFASFIDNKIMCHDDDDKDPV
LRVFDSRVDKIRLLNVRTPTLRTSMYQKCTTVDEAEKAIELRLAKIDHTAIHPHLLDMKI
GQGKYEPGFFPKLQSDVLSTGPASNKWTKRNAPAQWRRKDRQKQHTEHLRLDNDQREKYI
QEARTMGSTIRQPKLSNLSPSVIAQTNWKFVEGLLKECRNKTKRMLVEKMGREAVELGHG
EVNITGVEENTLIASLCDLLERIWSHGLQVKQGKSALWSHLLHYQDNRQRKLTSGSLSTS
GILLDSERRKSDASSLMPPLRISLIQDMRHIQNIGEIKTDVGKARAWVRLSMEKKLLSRH
LKQLLSDHELTKKLYKRYAFLRCDDEKEQFLYHLLSFNAVDYFCFTNVFTTILIPYHILI
VPSKKLGGSMFTANPWICISGELGETQIMQIPRNVLEMTFECQNLGKLTTVQIGHDNSGL
YAKWLVEYVMVRNEITGHTYKFPCGRWLGKGMDDGSLERILVGELLTSQPEVDERPCRTP
PLQQSPSVIRRLVTISPNNKPKLNTGQIQESIGEAVNGIVKHFHKPEKERGSLTLLLCGE
CGLVSALEQAFQHGFKSPRLFKNVFIWDFLEKAQTYYETLEKNEVVPEENWHTRARNFCR
FVTAINNTPRNIGKDGKFQMLVCLGARDHLLHHWIALLADCPITAHMYEDVALIKDHTLV
NSLIRVLQTLQEFNITLETSLVKGIDI
NT seq 3864 nt   +upstreamnt  +downstreamnt
atgagtggcggcggcggcggagggggctcggcgcccagtcgcttcgccgactactttgtc
atctgcggactggacacggagaccgggctggagccggacgagctgtcggcattatgccag
tacatacaggcttctaaagccagggatggtgccagccctttcatttcaagtacgactgaa
ggagaaaattttgagcagacaccattgagaagaacattcaaatctaaggtccttgcacga
tatcctgagaacgtagaatggaatccctttgaccaagatgcagtaggaatgctatgtatg
ccgaaagggctggcattcaagacccaggctgatcccagggagccccaattccatgccttt
attatcacaagggaggatggctctcggacatttgggtttgccctcacattttatgaagag
gtgactagcaagcagatctgcagtgcaatgcagaccctctaccacatgcacaatgctgag
tatgatgtcctacatgctccccctgctgatgacagagaccagagcagcatggaggatggt
gaagacactcctgtgaccaaactgcagcgcttcaactcctatgacattagccgggacact
ctctacgtctctaagtgcatctgcctcatcacacccatgtctttcatgaaggcatgtcgg
agcgtgctggagcaactccaccaggcagtcacttcacctcagccccctccactgcccctt
gagagctacatatacaacgtactctacgaggtgccgctcccacctcctggccggtccttg
aagttttctggggtctatgggccaataatctgccagagaccaagtaccaatgagcttccc
ctatttgactttcctgtcaaagaggtttttgaactgctcggggtggagaatgtgtttcag
ctttttacttgtgcccttctggagtttcaaatcctgctctactcacagcattaccagaga
ctgatgactgtggcggagacgattacagctctcatgtttcctttccagtggcagcatgtc
tatgtccctattctcccagcttctctcctgcatttcttagatgctcctgttccatacctg
atgggtttgcattccaatggcctggatgaccggtcaaagctggagctgcctcaagaggct
aacctctgctttgtggacattgacaaccacttcattgagttgccagaggacttgccacag
ttccccaacaaattggagtttgtccaggaagtctctgagattctcatggcatttggaatt
ccccctgaagggaatcttcattgcagtgagagtgcctccaagctgaagaggctgcgggcc
tctgagcttgtctcggacaagaggaatgggaacattgctggctcccctttgcattcctac
gagcttcttaaggagaatgaaactattgcccggctgcaagccttggtcaagagaactggg
gtgagcctggaaaagttggaagtgcgtgaagaccccagcagcaataaggatctcaaagtt
cagtgtgatgaagaagaactcaggatttaccagctaaacattcagatccgggaagttttt
gcaaatcgtttcactcagatgtttgcagattatgaggtgtttgtcatccaacccagccag
gataaggaatcctggtttaccaacagggagcaaatgcaaaactttgataaagcatctttt
ctgtcagatcagcctgagccctacctgcccttcctctcaagattcctggagacccagatg
tttgcatctttcattgacaacaaaataatgtgtcatgatgatgatgataaagaccctgta
ctccgggtatttgattcccgagttgacaagatcaggctgttgaatgttcggacacctact
ctccgtacatccatgtaccagaagtgtaccactgtggatgaagcagagaaagcaattgag
ctgcgtctggcaaaaattgaccatactgcaattcacccacatttacttgacatgaagatt
ggacaagggaaatatgagccgggcttcttccctaagctgcagtctgatgtactttccact
gggccagccagcaacaagtggacgaaaaggaatgcccctgcccagtggaggcggaaagat
cggcagaagcagcacacagaacacctgcgtttagataatgaccagagggagaagtacatc
caggaagccaggactatgggcagcactatccgccagcccaaactgtccaacctctctcca
tcagtgattgcccagaccaattggaagtttgtagagggcctgctgaaggaatgccgcaat
aagaccaagaggatgctggtggaaaagatgggccgagaagctgtggagctagggcatggg
gaggtgaacatcacaggggtggaagagaacaccctgattgccagcctttgtgatctcctg
gaaaggatctggagtcatggactacaagtgaaacaggggaaatcagccttatggtcccac
ctgttacattatcaggacaaccggcagagaaaactcacatcaggaagcctcagtacctca
ggaatacttcttgattcagaacgtaggaagtctgatgccagctcactcatgcctcccctg
aggatctccctgattcaggatatgaggcacatccagaacatcggggaaatcaagactgat
gtgggaaaggccagagcatgggtgcgactgtccatggaaaaaaagttactttccagacac
ctgaagcagctcctctcagaccatgagctcaccaaaaagttatataagcgctatgccttc
ctgcgctgtgatgacgagaaggagcagttcctctatcacctcctgtctttcaatgccgtc
gattacttttgcttcaccaatgtcttcacaactatcctgatcccgtaccacattctgatc
gtaccaagcaagaagctggggggctccatgttcactgccaacccatggatctgtatatca
ggagaattgggtgagacacagatcatgcagattcccaggaatgtgctagagatgaccttc
gagtgccagaacttggggaagcttactactgtccagattggccatgataactctgggctg
tatgccaaatggctggtggagtatgtgatggtcaggaatgagatcacaggacatacctac
aagttcccgtgtggccggtggttagggaagggcatggatgatggaagcctggagcggatc
ctagttggggagctgctcacatcccagcctgaggtggatgagaggccatgccggaccccg
ccgctgcagcagtcccccagtgtcatccggaggcttgttaccatctcacccaacaacaag
cccaagctgaacactgggcagatccaggagtccatcggggaggcagtcaatggcattgtg
aagcacttccataagcctgagaaagagcgaggcagtctgacgctgttgctctgtggagag
tgtggccttgtctcggccttggaacaggctttccagcatggatttaaatcgccccggctc
ttcaaaaatgtcttcatttgggatttcctggaaaaagcacaaacctattatgagacatta
gagaagaatgaagtagtccctgaggaaaactggcatacaagagcccggaacttctgccga
tttgtcactgcaatcaacaatactccccggaacatcggcaaggatggcaagtttcagatg
ctggtgtgcttgggagccagagatcacctcctacaccactggattgccctgctggctgac
tgccccatcactgcacacatgtatgaggatgtggcactgatcaaagaccatacacttgtc
aattccttgattcgtgtgctgcagacattgcaggagttcaacatcacgctggagacgtcc
cttgtcaagggcatcgacatctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (35)   
   RefSeq(nuc) (5)   
   GenBank (15)   
   EMBL (15)   
Protein domain (5)   
   Pfam (5)   
All databases (75)   

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