KEGG   Homo sapiens (human): 55690
Entry
55690             CDS       T01001                                 
Symbol
PACS1, MRD17, SHMS
Name
(RefSeq) phosphofurin acidic cluster sorting protein 1
  KO
K23290  phosphofurin acidic cluster sorting protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00773  Autosomal dominant intellectual developmental disorder
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55690 (PACS1)
Membrane trafficking [BR:hsa04131]
 Endosome - Golgi transport
  Others
   Others
    55690 (PACS1)
SSDB
Motif
Pfam: Pacs-1
Other DBs
NCBI-GeneID: 55690
NCBI-ProteinID: NP_060496
OMIM: 607492
HGNC: 30032
Ensembl: ENSG00000175115
UniProt: Q6VY07
Position
11:66070272..66244744
AA seq 963 aa
MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSST
SAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRL
FSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYP
HFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHPNEGALVLGLHSNVKD
VSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQD
LFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIR
EVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVK
TPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSERTNSSDSERSPDLGHS
TQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQ
AVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFL
IIPLGSHPVAKYLGSVDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATT
HQLPVAEAMLTCRHKFPDEDSYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPST
SPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDK
RDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEV
DSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGS
KAT
NT seq 2892 nt   +upstreamnt  +downstreamnt
atggcggaacgcggaggggcgggcggtggtcccggaggcgccgggggcggcagcggccag
cggggatccggggtcgcccagtcccctcagcagccgccgccgcagcagcagcagcagcag
ccgccgcagcagccgacgccccccaagctggcccaggccacctcgtcgtcctcgtccacc
tcggcggcggctgcctcctcctcgtcctcgtctacctccacctccatggccgtggcggtg
gcctcgggctccgcgcctcccggtggcccggggccaggccgcacccccgccccggtgcag
atgaacctgtacgccacctgggaggtggaccggagctcgtccagctgcgtgcctaggcta
ttcagcttgaccctgaagaaactcgtcatgctaaaagaaatggacaaagatcttaactca
gtggtcatcgctgtgaagctgcagggttcaaaaagaattcttcgctccaacgagatcgtc
cttccagctagtggactggtggaaacagagctccaattaaccttctcccttcagtaccct
catttccttaagcgagatgccaacaagctgcagatcatgctgcaaaggagaaaacgttac
aagaatcggaccatcttgggctataagaccttggccgtgggactcatcaacatggcagag
gtgatgcagcatcctaatgaaggcgcactggtgcttggcctacacagcaacgtgaaggat
gtctctgtgcctgtggcagaaataaagatctactccctgtccagccaacccattgaccat
gaaggaatcaaatccaagctttctgatcgttctcctgatattgacaattattctgaggaa
gaggaagagagtttctcatcagaacaggaaggcagtgatgatccattgcatgggcaggac
ttgttctacgaagacgaagatctccggaaagtgaagaagacccggaggaaactaacctca
acctctgccatcacaaggcaacctaacatcaaacagaagtttgtggccctcctgaagcgg
tttaaagtttcagatgaggtgggctttgggctggagcatgtgtcccgcgagcagatccgg
gaagtggaagaggacttggatgaattgtatgacagtctggagatgtacaaccccagcgac
agtggccctgagatggaggagacagaaagcatcctcagcacgccaaagcccaagctcaag
cctttctttgaggggatgtcgcagtccagctcccagacggagattggcagcctcaacagc
aaaggcagcctcggaaaagacaccaccagccctatggaattggctgctctagaaaaaatt
aaatctacttggattaaaaaccaagatgacagcttgactgaaacagacactctggaaatc
actgaccaggacatgtttggagatgccagcacgagtctggttgtgccggagaaagtcaaa
actcccatgaagtccagtaaaacggatctccagggctctgcctcccccagcaaagtggag
ggggtgcacacaccccggcagaagaggagcacgcccctgaaggagcggcagctctccaag
cccctaagtgagaggaccaacagttccgacagcgagcgctccccagatctgggccacagc
acgcagattccaagaaaggtggtgtatgaccagctcaatcagatcctggtgtcagatgca
gccctcccagaaaatgtcattctggtgaacaccactgactggcagggccagtatgtggct
gagctgctccaggaccagcggaagcctgtggtgtgcacctgctccaccgtggaggtccag
gccgtgctgtccgccctgctcacccggatccagcgctactgcaactgcaactcttccatg
ccgaggccagtgaaggtggctgctgtgggaggccagagctacctgagctccatcctcagg
ttctttgtcaagtccctggccaacaagacctccgactggcttggctacatgcgcttcctc
atcatccccctcggttctcaccctgtggccaaatacttggggtcagtcgacagtaaatac
agtagttccttcctggattctggttggagagatctgttcagtcgctcggagccaccagtg
tcagagcaactggacgtggcagggcgggtgatgcagtacgtcaacggggcagccacgaca
caccagcttcccgtggccgaagccatgctgacttgccggcataagttccctgatgaagac
tcctatcagaagtttattcccttcattggcgtggtgaaggtgggtctggttgaagactct
ccctccacagcaggcgatggggacgattctcctgtggtcagccttactgtgccctccaca
tcaccaccctccagctcgggcctgagccgagacgccacggccacccctccctcctcccca
tctatgagcagcgccctggccatcgtggggagccctaatagcccatatggggacgtgatt
ggcctccaggtggactactggctgggccaccccggggagcggaggagggaaggcgacaag
agggacgccagctcgaagaacaccctcaagagtgtcttccgctcagtgcaggtgtcccgc
ctgccccatagtggggaggcccagctttctggcaccatggccatgactgtggtcaccaaa
gaaaagaacaagaaagttcccaccatcttcctgagcaagaaaccccgagaaaaggaggtg
gattctaagagccaggtcattgaaggcatcagccgcctcatctgctcagccaagcagcag
cagactatgctgagagtgtccatcgatggggtcgagtggagtgacatcaagttcttccag
ctggcagcccagtggcccacccatgtcaagcactttccagtgggactcttcagtggcagc
aaggccacctga

  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 (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (14)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (36)   
   RefSeq(nuc) (6)   
   GenBank (15)   
   EMBL (15)   
Protein domain (1)   
   Pfam (1)   
All databases (77)   

Download RDF
DBGET integrated database retrieval system