KEGG   Homo sapiens (human): 50619
Entry
50619             CDS       T01001                                 
Symbol
DEF6, IBP, IMD87, SLAT, SWAP70L
Name
(RefSeq) DEF6 guanine nucleotide exchange factor
  KO
K20072  switch-associated protein 70
Organism
hsa  Homo sapiens (human)
Disease
H02526  Disorders of adaptive immunity
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    50619 (DEF6)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Macropinocytosis
   Others
    50619 (DEF6)
SSDB
Motif
Pfam: EF-hand_SWAP70_N PH PH_3 PH_8 PH_2 EF-hand_7 EF-hand_6
Other DBs
NCBI-GeneID: 50619
NCBI-ProteinID: NP_071330
OMIM: 610094
HGNC: 2760
Ensembl: ENSG00000023892
UniProt: Q9H4E7
Position
6:35297818..35321771
AA seq 631 aa
MALRKELLKSIWYAFTALDVEKSGKVSKSQLKVLSHNLYTVLHIPHDPVALEEHFRDDDD
GPVSSQGYMPYLNKYILDKVEEGAFVKEHFDELCWTLTAKKNYRADSNGNSMLSNQDAFR
LWCLFNFLSEDKYPLIMVPDEVEYLLKKVLSSMSLEVSLGELEELLAQEAQVAQTTGGLS
VWQFLELFNSGRCLRGVGRDTLSMAIHEVYQELIQDVLKQGYLWKRGHLRRNWAERWFQL
QPSCLCYFGSEECKEKRGIIPLDAHCCVEVLPDRDGKRCMFCVKTANRTYEMSASDTRQR
QEWTAAIQMAIRLQAEGKTSLHKDLKQKRREQREQRERRRAAKEEELLRLQQLQEEKERK
LQELELLQEAQRQAERLLQEEEERRRSQHRELQQALEGQLREAEQARASMQAEMELKEEE
AARQRQRIKELEEMQQRLQEALQLEVKARRDEESVRIAQTRLLEEEEEKLKQLMQLKEEQ
ERYIERAQQEKEELQQEMAQQSRSLQQAQQQLEEVRQNRQRADEDVEAAQRKLRQASTNV
KHWNVQMNRLMHPIEPGDKRPVTSSSFSGFQPPLLAHRDSSLKRLTRWGSQGNRTPSPNS
NEQQKSLNGGDEAPAPASTPQEDKLDPAPEN
NT seq 1896 nt   +upstreamnt  +downstreamnt
atggccctgcgcaaggaactgctcaagtccatctggtacgcctttaccgcgctggacgtg
gagaagagtggcaaagtctccaagtcccagctcaaggtgctgtcccacaacctgtacacg
gtcctgcacatcccccatgaccccgtggccctggaggaacacttccgagatgatgatgac
ggccctgtgtccagccagggatacatgccctacctcaacaagtacatcctggacaaggtg
gaggagggggcttttgttaaagagcactttgatgagctgtgctggacgctgacggccaag
aagaactatcgggcagatagcaacgggaacagtatgctctccaatcaggatgccttccgc
ctctggtgcctcttcaacttcctgtctgaggacaagtaccctctgatcatggttcctgat
gaggtggaatacctgctgaaaaaggtactcagcagcatgagcttggaggtgagcttgggt
gagctggaggagcttctggcccaggaggcccaggtggcccagaccaccggggggctcagc
gtctggcagttcctggagctcttcaattcgggccgctgcctgcggggcgtgggccgggac
accctcagcatggccatccacgaggtctaccaggagctcatccaagatgtcctgaagcag
ggctacctgtggaagcgagggcacctgagaaggaactgggccgaacgctggttccagctg
cagcccagctgcctctgctactttgggagtgaagagtgcaaagagaaaaggggcattatc
ccgctggatgcacactgctgcgtggaggtgctgccagaccgcgacggaaagcgctgcatg
ttctgtgtgaagacagccaaccgcacgtatgagatgagcgcctcagacacgcgccagcgc
caggagtggacagctgccatccagatggcgatccggctgcaggccgaggggaagacgtcc
ctacacaaggacctgaagcagaaacggcgcgagcagcgggagcagcgggagcggcgccgg
gcggccaaggaagaggagctgctgcggctgcagcagctgcaggaggagaaggagcggaag
ctgcaggagctggagctgctgcaggaggcgcagcggcaggccgagcggctgctgcaggag
gaggaggaacggcgccgcagccagcaccgcgagctgcagcaggcgctcgagggccaactg
cgcgaggcggagcaggcccgggcctccatgcaggctgagatggagctgaaggaggaggag
gctgcccggcagcggcagcgcatcaaggagctggaggagatgcagcagcggttgcaggag
gccctgcaactagaggtgaaagctcggcgagatgaagaatctgtgcgaatcgctcagacc
agactgctggaagaggaggaagagaagctgaagcagttgatgcagctgaaggaggagcag
gagcgctacatcgaacgggcgcagcaggagaaggaagagctgcagcaggagatggcacag
cagagccgctccctgcagcaggcccagcagcagctggaggaggtgcggcagaaccggcag
agggctgacgaggatgtggaggctgcccagagaaaactgcgccaggccagcaccaacgtg
aaacactggaatgtccagatgaaccggctgatgcatccaattgagcctggagataagcgt
ccggtcaccagcagctccttctcaggcttccagccccctctgcttgcccaccgtgactcc
tccctaaagcgcctgacccgctggggatcccagggcaacaggaccccctcgcccaacagc
aatgagcagcagaagtccctcaatggtggggatgaggctcctgccccggcttccacccct
caggaagataaactggatccagcaccagaaaattag

  All links  
Disease (2)   
   OMIM (2)   
Gene (21)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (17)   
   RefSeq(nuc) (3)   
   GenBank (7)   
   EMBL (7)   
Protein domain (7)   
   Pfam (7)   
All databases (52)   

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