KEGG   Homo sapiens (human): 55690Help
Entry
55690             CDS       T01001                                 

Gene name
PACS1, MRD17, SHMS
Definition
(RefSeq) phosphofurin acidic cluster sorting protein 1
Organism
hsa  Homo sapiens (human)
Disease
H00773  Autosomal dominant mental retardation
SSDB OrthologParalogGFIT
Motif
Pfam: Pacs-1
Motif
Other DBs
NCBI-GeneID: 55690
NCBI-ProteinID: NP_060496
OMIM: 607492
HGNC: 30032
Ensembl: ENSG00000175115
Vega: OTTHUMG00000166889
Pharos: Q6VY07(Tbio)
UniProt: Q6VY07 A0A024R5H6
Position
11q13.1-q13.2
AA seq 963 aa AA seqDB search
MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSST
SAAAASSSSSSTSTSMAVAVASGSAPPGGPGPGRTPAPVQMNLYATWEVDRSSSSCVPRL
FSLTLKKLVMLKEMDKDLNSVVIAVKLQGSKRILRSNEIVLPASGLVETELQLTFSLQYP
HFLKRDANKLQIMLQRRKRYKNRTILGYKTLAVGLINMAEVMQHPNEGALVLGLHSNVKD
VSVPVAEIKIYSLSSQPIDHEGIKSKLSDRSPDIDNYSEEEEESFSSEQEGSDDPLHGQD
LFYEDEDLRKVKKTRRKLTSTSAITRQPNIKQKFVALLKRFKVSDEVGFGLEHVSREQIR
EVEEDLDELYDSLEMYNPSDSGPEMEETESILSTPKPKLKPFFEGMSQSSSQTEIGSLNS
KGSLGKDTTSPMELAALEKIKSTWIKNQDDSLTETDTLEITDQDMFGDASTSLVVPEKVK
TPMKSSKTDLQGSASPSKVEGVHTPRQKRSTPLKERQLSKPLSERTNSSDSERSPDLGHS
TQIPRKVVYDQLNQILVSDAALPENVILVNTTDWQGQYVAELLQDQRKPVVCTCSTVEVQ
AVLSALLTRIQRYCNCNSSMPRPVKVAAVGGQSYLSSILRFFVKSLANKTSDWLGYMRFL
IIPLGSHPVAKYLGSVDSKYSSSFLDSGWRDLFSRSEPPVSEQLDVAGRVMQYVNGAATT
HQLPVAEAMLTCRHKFPDEDSYQKFIPFIGVVKVGLVEDSPSTAGDGDDSPVVSLTVPST
SPPSSSGLSRDATATPPSSPSMSSALAIVGSPNSPYGDVIGLQVDYWLGHPGERRREGDK
RDASSKNTLKSVFRSVQVSRLPHSGEAQLSGTMAMTVVTKEKNKKVPTIFLSKKPREKEV
DSKSQVIEGISRLICSAKQQQTMLRVSIDGVEWSDIKFFQLAAQWPTHVKHFPVGLFSGS
KAT
NT seq 2892 nt NT seq  +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

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