KEGG   Homo sapiens (human): 3092
Entry
3092              CDS       T01001                                 

Gene name
HIP1, HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma
Definition
(RefSeq) huntingtin interacting protein 1
  KO
K04559  huntingtin interacting protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06414  Apoptosis
nt06461  Huntington disease
  Element
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    3092 (HIP1)
   05022 Pathways of neurodegeneration - multiple diseases
    3092 (HIP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    3092 (HIP1)
Membrane trafficking [BR:hsa04131]
 Endocytosis
  Clathrin-mediated endocytosis
   Others
    3092 (HIP1)
SSDB
Motif
Pfam: ANTH I_LWEQ HIP1_clath_bdg Filament CENP-K
Other DBs
NCBI-GeneID: 3092
NCBI-ProteinID: NP_005329
OMIM: 601767
HGNC: 4913
Ensembl: ENSG00000127946
Vega: OTTHUMG00000156050
Pharos: O00291(Tbio)
UniProt: O00291 B4DK46
Structure
PDB: 
3I00 2QA7 2NO2

Position
7q11.23
AA seq 1037 aa
MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQTVSINKAINTQEVAVKEKHA
RTCILGTHHEKGAQTFWSVVNRLPLSSNAVLCWKFCHVFHKLLRDGHPNVLKDSLRYRNE
LSDMSRMWGHLSEGYGQLCSIYLKLLRTKMEYHTKNPRFPGNLQMSDRQLDEAGESDVNN
FFQLTVEMFDYLECELNLFQTVFNSLDMSRSVSVTAAGQCRLAPLIQVILDCSHLYDYTV
KLLFKLHSCLPADTLQGHRDRFMEQFTKLKDLFYRSSNLQYFKRLIQIPQLPENPPNFLR
ASALSEHISPVVVIPAEASSPDSEPVLEKDDLMDMDASQQNLFDNKFDDIFGSSFSSDPF
NFNSQNGVNKDEKDHLIERLYREISGLKAQLENMKTESQRVVLQLKGHVSELEADLAEQQ
HLRQQAADDCEFLRAELDELRRQREDTEKAQRSLSEIERKAQANEQRYSKLKEKYSELVQ
NHADLLRKNAEVTKQVSMARQAQVDLEREKKELEDSLERISDQGQRKTQEQLEVLESLKQ
ELATSQRELQVLQGSLETSAQSEANWAAEFAELEKERDSLVSGAAHREEELSALRKELQD
TQLKLASTEESMCQLAKDQRKMLLVGSRKAAEQVIQDALNQLEEPPLISCAGSADHLLST
VTSISSCIEQLEKSWSQYLACPEDISGLLHSITLLAHLTSDAIAHGATTCLRAPPEPADS
LTEACKQYGRETLAYLASLEEEGSLENADSTAMRNCLSKIKAIGEELLPRGLDIKQEELG
DLVDKEMAATSAAIETATARIEEMLSKSRAGDTGVKLEVNERILGCCTSLMQAIQVLIVA
SKDLQREIVESGRGTASPKEFYAKNSRWTEGLISASKAVGWGATVMVDAADLVVQGRGKF
EELMVCSHEIAASTAQLVAASKVKADKDSPNLAQLQQASRGVNQATAGVVASTISGKSQI
EETDNMDFSSMTLTQIKRQEMDSQVRVLELENELQKERQKLGELRKKHYELAGVAEGWEE
GTEASPPTLQEVVTEKE
NT seq 3114 nt   +upstreamnt  +downstreamnt
atggatcggatggccagctccatgaagcaggtgcccaacccactgcccaaggtgctgagc
cggcgcggggtcggcgctgggctggaggcggcggagcgcgagagcttcgagcggactcag
actgtcagcatcaataaggccattaatacgcaggaagtggctgtaaaggaaaaacacgcc
agaacgtgcatactgggcacccaccatgagaaaggggcacagaccttctggtctgttgtc
aaccgcctgcctctgtctagcaacgcagtgctctgctggaagttctgccatgtgttccac
aaactcctccgagatggacacccgaacgtcctgaaggactctctgagatacagaaatgaa
ttgagtgacatgagcaggatgtggggccacctgagcgaggggtatggccagctgtgcagc
atctacctgaaactgctaagaaccaagatggagtaccacaccaaaaatcccaggttccca
ggcaacctgcagatgagtgaccgccagctggacgaggctggagaaagtgacgtgaacaac
tttttccagttaacagtggagatgtttgactacctggagtgtgaactcaacctcttccaa
acagtattcaactccctggacatgtcccgctctgtgtccgtgacggcagcagggcagtgc
cgcctcgccccgctgatccaggtcatcttggactgcagccacctttatgactacactgtc
aagcttctcttcaaactccactcctgcctcccagctgacaccctgcaaggccaccgggac
cgcttcatggagcagtttacaaagttgaaagatctgttctaccgctccagcaacctgcag
tacttcaagcggctcattcagatcccccagctgcctgagaacccacccaacttcctgcga
gcctcagccctgtcagaacatatcagccctgtggtggtgatccctgcagaggcctcatcc
cccgacagcgagccagtcctagagaaggatgacctcatggacatggatgcctctcagcag
aatttatttgacaacaagtttgatgacatctttggcagttcattcagcagtgatcccttc
aatttcaacagtcaaaatggtgtgaacaaggatgagaaggaccacttaattgagcgacta
tacagagagatcagtggattgaaggcacagctagaaaacatgaagactgagagccagcgg
gttgtgctgcagctgaagggccacgtcagcgagctggaagcagatctggccgagcagcag
cacctgcggcagcaggcggccgacgactgtgaattcctgcgggcagaactggacgagctc
aggaggcagcgggaggacaccgagaaggctcagcggagcctgtctgagatagaaaggaaa
gctcaagccaatgaacagcgatatagcaagctaaaggagaagtacagcgagctggttcag
aaccacgctgacctgctgcggaagaatgcagaggtgaccaaacaggtgtccatggccaga
caagcccaggtagatttggaacgagagaaaaaagagctggaggattcgttggagcgcatc
agtgaccagggccagcggaagactcaagaacagctggaagttctagagagcttgaagcag
gaacttgccacaagccaacgggagcttcaggttctgcaaggcagcctggaaacttctgcc
cagtcagaagcaaactgggcagccgagttcgccgagctagagaaggagcgggacagcctg
gtgagtggcgcagctcatagggaggaggaattatctgctcttcggaaagaactgcaggac
actcagctcaaactggccagcacagaggaatctatgtgccagcttgccaaagaccaacga
aaaatgcttctggtggggtccaggaaggctgcggagcaggtgatacaagacgccctgaac
cagcttgaagaacctcctctcatcagctgcgctgggtctgcagatcacctcctctccacg
gtcacatccatttccagctgcatcgagcaactggagaaaagctggagccagtatctggcc
tgcccagaagacatcagtggacttctccattccataaccctgctggcccacttgaccagc
gacgccattgctcatggtgccaccacctgcctcagagccccacctgagcctgccgactca
ctgaccgaggcctgtaagcagtatggcagggaaaccctcgcctacctggcctccctggag
gaagagggaagccttgagaatgccgacagcacagccatgaggaactgcctgagcaagatc
aaggccatcggcgaggagctcctgcccaggggactggacatcaagcaggaggagctgggg
gacctggtggacaaggagatggcggccacttcagctgctattgaaactgccacggccaga
atagaggagatgctcagcaaatcccgagcaggagacacaggagtcaaattggaggtgaat
gaaaggatccttggttgctgtaccagcctcatgcaagctattcaggtgctcatcgtggcc
tctaaggacctccagagagagattgtggagagcggcaggggtacagcatcccctaaagag
ttttatgccaagaactctcgatggacagaaggacttatctcagcctccaaggctgtgggc
tggggagccactgtcatggtggatgcagctgatctggtggtacaaggcagagggaaattt
gaggagctaatggtgtgttctcatgaaattgctgctagcacagcccagcttgtggctgca
tccaaggtgaaagctgataaggacagccccaacctagcccagctgcagcaggcctctcgg
ggagtgaaccaggccactgccggcgttgtggcctcaaccatttccggcaaatcacagatc
gaagagacagacaacatggacttctcaagcatgacgctgacacagatcaaacgccaagag
atggattctcaggttagggtgctagagctagaaaatgaattgcagaaggagcgtcaaaaa
ctgggagagcttcggaaaaagcactacgagcttgctggtgttgctgagggctgggaagaa
ggaacagaggcatctccacctacactgcaagaagtggtaaccgaaaaagaatag

KEGG   Homo sapiens (human): 55081
Entry
55081             CDS       T01001                                 

Gene name
IFT57, ESRRBL1, HIPPI, MHS4R2, OFD18
Definition
(RefSeq) intraflagellar transport 57
  KO
K04638  intraflagellar transport protein 57
Organism
hsa  Homo sapiens (human)
Pathway
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06414  Apoptosis
nt06461  Huntington disease
  Element
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
Disease
H00454  Oral-facial-digital syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    55081 (IFT57)
   05022 Pathways of neurodegeneration - multiple diseases
    55081 (IFT57)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55081 (IFT57)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Intraflagellar transport (IFT) complex B
    55081 (IFT57)
SSDB
Motif
Pfam: IFT57 MCPsignal Ribonuc_L-PSP Sec34 Exonuc_VII_L
Other DBs
NCBI-GeneID: 55081
NCBI-ProteinID: NP_060480
OMIM: 606621
HGNC: 17367
Ensembl: ENSG00000114446
Vega: OTTHUMG00000159223
Pharos: Q9NWB7(Tbio)
UniProt: Q9NWB7
Position
3q13.12-q13.13
AA seq 429 aa
MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEF
LRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILS
ELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAE
DDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWS
LEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKI
SSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEM
EEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATV
IPEPATGFY
NT seq 1290 nt   +upstreamnt  +downstreamnt
atgactgctgctctggccgtcgtcacgacgtcgggtttggaagatggggtgcctaggtcc
cgtggcgaagggaccggggaagtggtcttggagcgggggcccggcgcggcctaccacatg
ttcgtggtgatggaggacttggtggagaagctgaagctgctccgctacgaggaggagttc
ctccggaagagcaacctgaaggccccgtccagacactattttgcactgcctaccaaccct
ggcgaacagttctacatgttttgtactcttgctgcttggttgattaataaagcgggacgt
ccctttgagcagcctcaagaatatgatgaccctaatgcaacaatatctaacatactatcc
gagcttcggtcatttggaagaactgcagattttcctccttcaaaattaaagtcaggttat
ggagaacatgtatgctatgttcttgattgcttcgctgaagaagcattgaaatatattggt
ttcacctggaaaaggccaatatacccagtagaagaattagaagaagaaagcgttgcagaa
gatgatgcagaattaacattaaataaagtggatgaagaatttgtggaagaagagacagat
aatgaagaaaactttattgatctcaacgttttaaaggcccagacatatcacttggatatg
aacgagactgccaaacaagaagatattttggaatccacaacagatgctgcagaatggagc
ctagaagtggaacgtgtactaccgcaactgaaagtcacgattaggactgacaataaggat
tggagaatccatgttgaccaaatgcaccagcacagaagtggaattgaatctgctctaaag
gagaccaagggatttttggacaaactccataatgaaattactaggactttggaaaagatc
agcagccgagaaaagtacatcaacaatcagcttgagaatttggttcaagaatatcgtgca
gctcaagcccagctgagtgaggcaaaggagcgataccagcagggaaatggaggagtgacg
gaaagaaccagactcctctctgaggttatggaagaattagaaaaggtaaaacaagaaatg
gaagaaaagggcagcagcatgactgatggtgctcctttggtgaagattaaacagagctta
acaaaactgaagcaagaaactgtagagatggacattagaattggcattgtggaacacaca
ctactccaatcaaagctgaaggagaagtccaacatgactaggaacatgcatgccacagtt
attccagaaccagcaacaggcttttattaa

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