KEGG   Homo sapiens (human): 55704
Entry
55704             CDS       T01001                                 
Symbol
CCDC88A, APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO, PEHOL
Name
(RefSeq) coiled-coil domain containing 88A
  KO
K25392  girdin
Organism
hsa  Homo sapiens (human)
Disease
H02338  PEHO-like syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    55704 (CCDC88A)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Other primary cilia associated proteins
   55704 (CCDC88A)
SSDB
Motif
Pfam: HOOK_N APG6_N
Other DBs
NCBI-GeneID: 55704
NCBI-ProteinID: NP_001129069
OMIM: 609736
HGNC: 25523
Ensembl: ENSG00000115355
UniProt: Q3V6T2 O14997
Structure
Position
2:complement(55287842..55419856)
AA seq 1870 aa
MENEIFTPLLEQFMTSPLVTWVKTFGPLAAGNGTNLDEYVALVDGVFLNQVMLQINPKLE
SQRVNKKVNNDASLRMHNLSILVRQIKFYYQETLQQLIMMSLPNVLIIGKNPFSEQGTEE
VKKLLLLLLGCAVQCQKKEEFIERIQGLDFDTKAAVAAHIQEVTHNQENVFDLQWMEVTD
MSQEDIEPLLKNMALHLKRLIDERDEHSETIIELSEERDGLHFLPHASSSAQSPCGSPGM
KRTESRQHLSVELADAKAKIRRLRQELEEKTEQLLDCKQELEQMEIELKRLQQENMNLLS
DARSARMYRDELDALREKAVRVDKLESEVSRYKERLHDIEFYKARVEELKEDNQVLLETK
TMLEDQLEGTRARSDKLHELEKENLQLKAKLHDMEMERDMDRKKIEELMEENMTLEMAQK
QSMDESLHLGWELEQISRTSELSEAPQKSLGHEVNELTSSRLLKLEMENQSLTKTVEELR
TTVDSVEGNASKILKMEKENQRLSKKVEILENEIVQEKQSLQNCQNLSKDLMKEKAQLEK
TIETLRENSERQIKILEQENEHLNQTVSSLRQRSQISAEARVKDIEKENKILHESIKETS
SKLSKIEFEKRQIKKELEHYKEKGERAEELENELHHLEKENELLQKKITNLKITCEKIEA
LEQENSELERENRKLKKTLDSFKNLTFQLESLEKENSQLDEENLELRRNVESLKCASMKM
AQLQLENKELESEKEQLKKGLELLKASFKKTERLEVSYQGLDIENQRLQKTLENSNKKIQ
QLESELQDLEMENQTLQKNLEELKISSKRLEQLEKENKSLEQETSQLEKDKKQLEKENKR
LRQQAEIKDTTLEENNVKIGNLEKENKTLSKEIGIYKESCVRLKELEKENKELVKRATID
IKTLVTLREDLVSEKLKTQQMNNDLEKLTHELEKIGLNKERLLHDEQSTDDRYKLLESKL
ESTLKKSLEIKEEKIAALEARLEESTNYNQQLRQELKTVKKNYEALKQRQDEERMVQSSP
PISGEDNKWERESQETTRELLKVKDRLIEVERNNATLQAEKQALKTQLKQLETQNNNLQA
QILALQRQTVSLQEQNTTLQTQNAKLQVENSTLNSQSTSLMNQNAQLLIQQSSLENENES
VIKEREDLKSLYDSLIKDHEKLELLHERQASEYESLISKHGTLKSAHKNLEVEHRDLEDR
YNQLLKQKGQLEDLEKMLKVEQEKMLLENKNHETVAAEYKKLCGENDRLNHTYSQLLKET
EVLQTDHKNLKSLLNNSKLEQTRLEAEFSKLKEQYQQLDITSTKLNNQCELLSQLKGNLE
EENRHLLDQIQTLMLQNRTLLEQNMESKDLFHVEQRQYIDKLNELRRQKEKLEEKIMDQY
KFYDPSPPRRRGNWITLKMRKLIKSKKDINRERQKSLTLTPTRSDSSEGFLQLPHQDSQD
SSSVGSNSLEDGQTLGTKKSSMVALKRLPFLRNRPKDKDKMKACYRRSMSMNDLVQSMVL
AGQWTGSTENLEVPDDISTGKRRKELGAMAFSTTAINFSTVNSSAGFRSKQLVNNKDTTS
FEDISPQGVSDDSSTGSRVHASRPASLDSGRTSTSNSNNNASLHEVKAGAVNNQSRPQSH
SSGEFSLLHDHEAWSSSGSSPIQYLKRQTRSSPVLQHKISETLESRHHKIKTGSPGSEVV
TLQQFLEESNKLTSVQIKSSSQENLLDEVMKSLSVSSDFLGKDKPVSCGLARSVSGKTPG
DFYDRRTTKPEFLRPGPRKTEDTYFISSAGKPTPGTQGKIKLVKESSLSRQSKDSNPYAT
LPRASSVISTAEGTTRRTSIHDFLTKDSRLPISVDSPPAAADSNTTAASNVDKVQESRNS
KSRSREQQSS
NT seq 5613 nt   +upstreamnt  +downstreamnt
atggagaacgaaatttttactccccttctggagcagttcatgaccagccctttggtcact
tgggttaaaacgtttggacctctggccgcaggaaatgggaccaaccttgatgaatatgtg
gctttggtggatggggtattcttgaaccaggtcatgctccaaattaatcctaaattggag
agtcagagagtaaataaaaaagtcaataatgatgcctcacttagaatgcacaatctatcc
attttggtgagacagataaaattttattaccaggagactttgcagcaattgatcatgatg
tcgttgccaaatgtcttaatcattggcaaaaatcccttttctgaacaaggcacagaagaa
gttaaaaaactgcttttacttttattgggttgtgcagttcagtgtcagaaaaaagaggaa
tttattgaaagaattcaaggtttagattttgatacaaaagcagcggttgccgcacatatt
caagaggtaactcataatcaggaaaatgtgtttgacctgcaatggatggaagtgactgat
atgtcgcaggaggacatagaaccactcttgaaaaatatggcattgcatctaaaaagactt
atagatgagagagatgaacattcagagactatcatagaactctctgaagagcgggatggt
ctccattttctaccccatgcctcttcatctgcacagtcaccctgtggttctccaggcatg
aagcgaacagaaagtcgacaacatctgtcggtggaactggcagatgctaaagccaagata
agaaggcttaggcaggaattggaggaaaagactgagcagttgttggattgtaaacaagaa
cttgagcaaatggaaatagaactcaaaaggctgcaacaagagaacatgaatttgctttcg
gatgctcgctctgccagaatgtaccgagatgaattagatgcacttcgagagaaagcagtc
agagtcgataagcttgaaagtgaagtcagcagatataaagagagactacatgatattgaa
ttttataaggcaagagttgaggaattaaaagaagacaatcaagttttattagaaacaaaa
accatgttggaagaccaactagagggaactcgtgctcgttctgataaattacatgaatta
gaaaaagagaacttacaactgaaagctaaacttcatgatatggaaatggaacgagatatg
gatagaaaaaagattgaagaattaatggaagaaaatatgactttggaaatggcacagaaa
caaagtatggatgaatcattacatcttggctgggaactggaacagatatccagaactagt
gaactttccgaagcaccccagaaatccctgggccatgaggtgaatgagttgacatcaagt
agattattgaagctagagatggaaaatcaaagtttgacaaaaaccgtagaagagcttcgg
actactgtggattctgtagaaggcaatgcttccaaaatcctgaaaatggaaaaagaaaat
caaaggctcagtaaaaaggttgagattcttgaaaatgagattgttcaagaaaagcaaagt
cttcagaattgtcagaatttaagcaaggatctaatgaaggagaaagctcagcttgaaaaa
acaatagaaacactgagagaaaattcagagagacagattaagatactggaacaggaaaat
gaacatctgaatcaaacagtgtcttccttaaggcagcggtcccagataagtgcagaagca
agagtgaaagacattgaaaaagaaaacaaaattcttcatgaatctatcaaagaaacaagt
agcaagctaagcaagattgaatttgaaaaaagacaaattaaaaaagaattggaacattat
aaagaaaaaggagaacgagctgaagaacttgaaaatgaattgcatcatcttgaaaaagaa
aatgaattattacagaaaaaaataactaatttaaaaattacttgtgaaaaaattgaggcc
ttagaacaagaaaattcagagctagaaagagaaaatagaaaattaaaaaaaacattggat
agctttaaaaatctgacctttcagttagaatccctagaaaaagagaattcccaacttgat
gaggaaaacttagaactgcgaaggaatgtagaatctttgaagtgtgcaagcatgaaaatg
gctcagctacagctagaaaacaaagaactggaaagtgaaaaagagcaacttaagaagggt
ttggagctcctgaaagcatctttcaagaaaacagaacgcttagaagttagctaccagggt
ttagatatagaaaatcaaagactgcaaaaaactttagagaacagcaataaaaaaatccag
caattagagagtgaactacaagacttagagatggaaaatcaaacattgcagaaaaaccta
gaagaactaaaaatatctagcaaaagactagaacagctggaaaaagaaaataaatcatta
gagcaagagacttctcaactggaaaaggataagaaacaattggagaaggaaaataagaga
ctccgacaacaagcagaaattaaagataccacattagaagaaaataatgtgaagattgga
aatttggaaaaagaaaacaaaaccctatccaaagaaattggtatatataaagaatcttgt
gtccgtctgaaagaactagaaaaagaaaataaggagcttgtgaaaagagcaactattgat
ataaaaacgttggttacactacgtgaggatttggtgagtgaaaagttgaagacccaacag
atgaacaatgatctcgaaaaattaactcatgagcttgagaagatagggttaaataaggag
cgactcttacatgatgaacaaagtactgatgacaggtataaacttttggaatcaaaatta
gaatccactcttaagaagtctcttgaaataaaagaagaaaaaattgctgctttagaagct
cgattagaagaatccacgaattataaccagcaattgcgccaagaacttaaaacagtgaaa
aaaaattatgaagctctcaaacagagacaagatgaggaaaggatggtacagagctctcct
ccaatatctggtgaagacaacaaatgggagcgagaaagtcaagaaacgactagagaactt
ctgaaagttaaagacagattaattgaagtagaaagaaataatgctacactgcaagcagag
aagcaagcgttgaaaactcaactgaagcaacttgagacacagaacaataatttgcaggct
cagattcttgcacttcagaggcagacagtgtcattacaagaacagaataccactcttcaa
acacagaatgccaagcttcaggttgaaaattccacccttaattcccaaagtacctcactc
atgaaccagaatgcccaactcctaatccagcagtcttccttagaaaatgaaaatgaatct
gtaatcaaagagcgagaagacctaaaatctctctatgattctctgatcaaagatcatgaa
aagctggaacttcttcatgaacgtcaggcttcagagtatgaatctcttatctctaaacat
ggaactctgaagtctgcccacaaaaatcttgaggtggaacatagagaccttgaagaccgt
tacaatcagttattaaaacagaaaggacagttggaagatttggaaaaaatgctcaaagta
gaacaggaaaaaatgctgcttgaaaataaaaatcatgaaacagtagctgcagaatacaag
aaactttgtggtgaaaatgataggctgaatcatacctatagtcaacttttaaaagagact
gaagttttacaaactgaccataaaaatttgaaaagtcttctgaataattccaaactggaa
caaacaagattagaagctgaattttcaaaactaaaggaacaataccaacaattggatatt
acatcaaccaagctgaataaccagtgtgagttgctaagccaacttaaaggaaatttagaa
gaagaaaatcggcatctactagatcaaattcagacattaatgctacagaacagaacactt
ttggagcagaatatggaaagcaaggatctttttcatgttgaacaaagacagtacattgat
aagttaaatgaattaagacgtcagaaggagaaactagaagagaaaattatggatcaatac
aaattttatgacccatctcctcctagaaggagaggcaactggattactctaaaaatgaga
aaattgataaagtctaagaaagatattaatcgggaacgccagaaatctctaacattaaca
cccacccgctcagactccagtgaaggatttcttcagctccctcatcaagacagtcaagat
agttcttcagtaggttcaaactctttagaagatggccagaccttggggaccaagaaaagc
agcatggttgcactgaaaagactgccctttttgaggaacagaccgaaggataaagacaaa
atgaaggcctgctaccgtcgttccatgtccatgaatgacctggtgcagtccatggtccta
gcaggacagtggacaggtagtactgagaatttggaggttcctgatgatatttcaacgggt
aaaaggagaaaagaattgggagctatggccttctctactacagccatcaacttttcaact
gtcaactcttctgcaggcttcagatccaagcagttggttaataataaagatactacatcc
tttgaagacataagtccacaaggtgttagtgatgattctagtacgggatcaagagttcat
gcttcaagaccagccagccttgatagtggcagaacatccactagcaatagcaataataat
gcttcactacatgaagtcaaagcaggtgcagttaataaccaaagcaggccacaaagccac
agcagtggagaatttagcctgcttcatgaccatgaggcttggtccagcagtggtagcagt
ccaatccagtacttgaaaagacagaccagatcaagcccagtgctccagcacaaaatatct
gaaacactggagagtcgacatcacaagatcaaaactggttcccctggaagtgaagttgtt
actctacaacagtttttggaagaaagcaataagcttacctcagtacagataaagtcctca
agtcaagagaatcttttagatgaagtaatgaaaagtttgtctgtctcttctgactttttg
ggaaaagacaaaccagttagctgtggtctggccaggtcagtaagtggaaaaaccccaggg
gacttctatgatagacggacaactaagcctgagtttttgagacctggtcctcgaaaaact
gaagatacctacttcattagttctgcgggaaaacctacaccaggcactcaaggaaaaata
aaattagtaaaagaatcttctctgtcacgacaatcaaaagatagtaacccttatgcaact
ttacctcgtgcaagcagcgtgatctcaactgccgaaggaactacacgaaggacaagcatc
catgattttttgaccaaggacagtagactgcctatatcagttgattcaccaccagctgct
gctgacagcaacaccactgcagcatctaatgtggacaaagtacaagaaagcagaaattca
aaaagcaggtctagggagcaacaaagctcctaa

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