KEGG   Homo sapiens (human): 201294
Entry
201294            CDS       T01001                                 
Symbol
UNC13D, FHL3, HLH3, HPLH3, Munc13-4
Name
(RefSeq) unc-13 homolog D
  KO
K19728  protein unc-13 D
Organism
hsa  Homo sapiens (human)
Disease
H00109  Familial hemophagocytic lymphohistiocytosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    201294 (UNC13D)
Membrane trafficking [BR:hsa04131]
 SNARE
  SNARE associated proteins
   Syntaxin-binding proteins
    201294 (UNC13D)
SSDB
Motif
Pfam: C2 MUN
Other DBs
NCBI-GeneID: 201294
NCBI-ProteinID: NP_954712
OMIM: 608897
HGNC: 23147
Ensembl: ENSG00000092929
UniProt: Q70J99
Position
17:complement(75827225..75844404)
AA seq 1090 aa
MATLLSHPQQRPPFLRQAIKIRRRRVRDLQDPPPQMAPEIQPPSHHFSPEQRALLYEDAL
YTVLHRLGHPEPNHVTEASELLRYLQEAFHVEPEEHQQTLQRVRELEKPIFCLKATVKQA
KGILGKDVSGFSDPYCLLGIEQGVGVPGGSPGSRHRQKAVVRHTIPEEETHRTQVITQTL
NPVWDETFILEFEDITNASFHLDMWDLDTVESVRQKLGELTDLHGLRRIFKEARKDKGQD
DFLGNVVLRLQDLRCREDQWYPLEPRTETYPDRGQCHLQFQLIHKRRATSASRSQPSYTV
HLHLLQQLVSHEVTQHEAGSTSWDGSLSPQAATVLFLHATQKDLSDFHQSMAQWLAYSRL
YQSLEFPSSCLLHPITSIEYQWIQGRLKAEQQEELAASFSSLLTYGLSLIRRFRSVFPLS
VSDSPARLQSLLRVLVQMCKMKAFGELCPNTAPLPQLVTEALQTGTTEWFHLKQQHHQPM
VQGIPEAGKALLGLVQDVIGDLHQCQRTWDKIFHNTLKIHLFSMAFRELQWLVAKRVQDH
TTVVGDVVSPEMGESLFQLYISLKELCQLRMSSSERDGVLALDNFHRWFQPAIPSWLQKT
YNEALARVQRAVQMDELVPLGELTKHSTSAVDLSTCFAQISHTARQLDWPDPEEAFMITV
KFVEDTCRLALVYCSLIKARARELSSGQKDQGQAANMLCVVVNDMEQLRLVIGKLPAQLA
WEALEQRVGAVLEQGQLQNTLHAQLQSALAGLGHEIRTGVRTLAEQLEVGIAKHIQKLVG
VRESVLPEDAILPLMKFLEVELCYMNTNLVQENFSSLLTLLWTHTLTVLVEAAASQRSSS
LASNRLKIALQNLEICFHAEGCGLPPKALHTATFQALQRDLELQAASSRELIRKYFCSRI
QQQAETTSEELGAVTVKASYRASEQKLRVELLSASSLLPLDSNGSSDPFVQLTLEPRHEF
PELAARETQKHKKDLHPLFDETFEFLVPAEPCRKAGACLLLTVLDYDTLGADDLEGEAFL
PLREVPGLSGSEEPGEVPQTRLPLTYPAPNGDPILQLLEGRKGDREAQVFVRLRRHRAKQ
ASQHALRPAP
NT seq 3273 nt   +upstreamnt  +downstreamnt
atggcgacactcctctcccatccgcagcagcgccctcccttcttgcgccaggccatcaag
ataaggcgccgcagagtcagagatctacaggatcccccgccccaaatggccccggagatc
cagcctccatcccaccacttctcccccgagcagcgggccctgctctacgaggacgcactc
tacactgtcttgcaccgcctgggtcatcctgagcccaaccatgtgacggaggcctctgag
ctgctgcgatacctgcaggaggccttccacgtggagcccgaggagcaccagcagacactg
cagcgggtcagggagcttgagaagccaatattttgtctgaaggcaacagtgaaacaggcc
aagggcattctgggcaaagatgtcagtgggttcagcgacccctactgcctgctgggcatt
gagcagggggtaggtgtgccagggggcagccccgggtcccggcatcggcagaaggctgtg
gtgaggcacaccatccccgaggaggagacccaccgcacgcaggtcatcacccagacactc
aaccccgtctgggacgagaccttcatcctggagtttgaggacatcaccaatgcgagcttt
catctggacatgtgggacctggacactgtggagtctgtccgacagaagcttggggagctc
acggatctgcatgggcttcgcaggatctttaaagaggcccggaaggacaaaggccaggac
gactttctggggaacgtggttctgaggctgcaggacctgcgctgccgagaggaccagtgg
taccccctggaaccccgcactgagacctacccagaccgaggccagtgccacctccagttc
caactcatccataagcggagagccacttcggccagccgctcgcagccgagctacaccgtg
cacctccacctcctgcagcagcttgtgtcccacgaggtcacccagcacgaggcgggaagc
acctcctgggacgggtcgctgagtccccaggctgccaccgtcctctttctgcacgccaca
cagaaggacctatccgacttccaccagtccatggcgcagtggctggcctacagccgcctc
taccagagcctggagttccccagcagctgcctcctgcaccccatcaccagcatcgagtac
cagtggatccagggtcggctcaaggcagaacagcaggaggagctggccgcctcattcagc
tccctgctgacctacggcctctccctcatccggaggttccgctctgtcttccccctctct
gtctcggactccccagcccggctgcagtctcttctcagggtcctggtacagatgtgcaag
atgaaggcctttggagaactgtgccccaacaccgccccattgccccagctggtgactgag
gccctgcagactggcaccactgaatggttccacctgaagcagcagcaccatcaacccatg
gtgcagggcatcccggaggcaggcaaggccttgctgggcctggtacaggatgtcattggc
gacctgcaccagtgccagcgcacatgggacaagatcttccacaataccctcaagatccac
ctcttctccatggctttccgggagctgcagtggctggtggccaagcgggtgcaggaccac
acgacggttgtgggtgatgtagtgtccccagagatgggcgagagtctgttccagctctac
atcagcctcaaggagctctgccagctgcgcatgagctcctcagagagggatggagtcctg
gccctggataatttccaccgctggttccagccggccatcccctcctggctgcagaagacg
tacaacgaggccctggcgcgggtgcagcgcgctgtgcagatggatgagctggtgcccctg
ggtgaactgaccaagcacagcacatcagcggtggatctatccacctgctttgcccagatc
agccacactgcccggcagctggactggccagacccagaggaggccttcatgattaccgtc
aagtttgtggaggacacctgtcgcctggccctggtgtactgcagccttataaaggcccgg
gcccgcgagctctcttcaggccagaaggaccaaggccaggcagccaacatgctgtgtgtg
gtggtgaatgacatggagcagctgcggctggtgatcggcaagttgcccgcccagctggca
tgggaggccctggagcagcgggtaggggccgtgctggagcaggggcagctgcagaacacg
ctgcatgcccagctgcagagcgcgctggccgggctgggccatgagatccgcactggcgtc
cgcaccctggccgagcagttggaggtgggcatcgccaagcacatccagaaactggtgggc
gtcagggagtctgtcctgcctgaggatgccattctgcccctgatgaagttcctggaggtg
gagctttgctacatgaacaccaacttggtgcaggagaacttcagcagcctcctgaccctg
ctctggacccacacactcacagtgctggtggaggcggccgcctcccagcgcagctcatcc
ctggcttccaacaggctgaagattgccctgcagaacctggagatctgcttccacgctgag
ggctgtggcctgccacccaaggccctgcacactgccaccttccaggctctgcagagggac
ctggagctgcaggcggcctccagccgggaactcatccggaagtacttctgcagccgaatc
cagcagcaggcagaaaccacctctgaggagctgggggctgtgacagtcaaggcctcctac
cgcgcctctgagcagaagctgcgtgtggagctgctcagcgcctccagcctgctgcccctg
gactccaatggctccagcgacccctttgtccagctgaccttggagcccaggcatgagttc
cctgagctggccgcccgggagacccagaagcacaagaaggaccttcacccattgtttgat
gagacctttgaattcctggtgcctgctgagccgtgccgcaaggctggggcatgcctcctg
ctcaccgtgctggactacgacacgctgggggccgacgacctggaaggcgaggccttcctg
ccgctgcgtgaggtgcccgggctgagtggctctgaggagcctggtgaggtgcctcagacc
cgcctgcccctcacgtaccccgcacccaacggggacccaatcctgcagctgctggagggc
cggaagggtgaccgagaagcccaggtctttgtgaggctgcggcggcaccgggccaagcag
gcctcccagcatgccttgcggccggcaccgtag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (15)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (15)   
   RefSeq(nuc) (1)   
   GenBank (7)   
   EMBL (7)   
Protein domain (2)   
   Pfam (2)   
All databases (53)   

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