KEGG   Homo sapiens (human): 57178
Entry
57178             CDS       T01001                                 
Symbol
ZMIZ1, MIZ, NEDDFSA, RAI17, TRAFIP10, ZIMP10
Name
(RefSeq) zinc finger MIZ-type containing 1
  KO
K22403  zinc finger MIZ domain-containing protein
Organism
hsa  Homo sapiens (human)
Disease
H02460  Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09192 Unclassified: genetic information processing
   99973 Transcription
    57178 (ZMIZ1)
SSDB
Motif
Pfam: Zmiz1_N zf-MIZ zf-Nse
Other DBs
NCBI-GeneID: 57178
NCBI-ProteinID: NP_065071
OMIM: 607159
HGNC: 16493
Ensembl: ENSG00000108175
UniProt: Q9ULJ6 A0JLS3
Structure
Position
10:79068966..79316519
AA seq 1067 aa
MNSMDRHIQQTNDRLQCIKQHLQNPANFHNAATELLDWCGDPRAFQRPFEQSLMGCLTVV
SRVAAQQGFDLDLGYRLLAVCAANRDKFTPKSAALLSSWCEELGRLLLLRHQKSRQSDPP
GKLPMQPPLSSMSSMKPTLSHSDGSFPYDSVPWQQNTNQPPGSLSVVTTVWGVTNTSQSQ
VLGNPMANANNPMNPGGNPMASGMTTSNPGLNSPQFAGQQQQFSAKAGPAQPYIQQSMYG
RPNYPGSGGFGASYPGGPNAPAGMGIPPHTRPPADFTQPAAAAAAAAVAAAAATATATAT
ATVAALQETQNKDINQYGPMGPTQAYNSQFMNQPGPRGPASMGGSMNPASMAAGMTPSGM
SGPPMGMNQPRPPGISPFGTHGQRMPQQTYPGPRPQSLPIQNIKRPYPGEPNYGNQQYGP
NSQFPTQPGQYPAPNPPRPLTSPNYPGQRMPSQPSSGQYPPPTVNMGQYYKPEQFNGQNN
TFSGSSYSNYSQGNVNRPPRPVPVANYPHSPVPGNPTPPMTPGSSIPPYLSPSQDVKPPF
PPDIKPNMSALPPPPANHNDELRLTFPVRDGVVLEPFRLEHNLAVSNHVFHLRPTVHQTL
MWRSDLELQFKCYHHEDRQMNTNWPASVQVSVNATPLTIERGDNKTSHKPLHLKHVCQPG
RNTIQITVTACCCSHLFVLQLVHRPSVRSVLQGLLKKRLLPAEHCITKIKRNFSSVAASS
GNTTLNGEDGVEQTAIKVSLKCPITFRRIQLPARGHDCKHVQCFDLESYLQLNCERGTWR
CPVCNKTALLEGLEVDQYMWGILNAIQHSEFEEVTIDPTCSWRPVPIKSDLHIKDDPDGI
PSKRFKTMSPSQMIMPNVMEMIAALGPGPSPYPLPPPPGGTNSNDYSSQGNNYQGHGNFD
FPHGNPGGTSMNDFMHGPPQLSHPPDMPNNMAALEKPLSHPMQETMPHAGSSDQPHPSIQ
QGLHVPHPSSQSGPPLHHSGAPPPPPSQPPRQPPQAAPSSHPHSDLTFNPSSALEGQAGA
QGASDMPEPSLDLLPELTNPDELLSYLDPPDLPSNSNDDLLSLFENN
NT seq 3204 nt   +upstreamnt  +downstreamnt
atgaattctatggacaggcacatccagcagaccaatgaccgactgcagtgcatcaagcag
cacttacagaatcctgccaacttccacaatgccgccacggagctgctggactggtgcgga
gacccacgggccttccagcggcccttcgagcagagcctgatgggctgtttgacggtggtc
agtcgggtggcagcccagcaaggctttgacctggacctcggctacagactgctggctgtg
tgtgctgcaaaccgagacaagttcaccccgaagtctgccgccttgttgtcctcctggtgc
gaagagctcggccgcctgctgctgctccgacatcagaagagccgccagagcgatccccct
gggaaactccccatgcagccccctctcagctccatgagctccatgaaacccactctgtcg
cacagtgatgggtcgttcccctatgactctgtcccttggcagcagaacaccaaccagcct
cccggctccctttccgtggtcaccacggtttggggagtaaccaacacatcccagagccag
gtccttgggaaccctatggccaatgccaacaaccccatgaatccaggcggcaaccccatg
gcgtcgggcatgaccaccagcaacccaggcctcaactccccacagtttgcggggcagcag
cagcagttctcagccaaggctggccccgctcagccctacatccagcagagcatgtatggc
cggcccaactaccccggcagcgggggctttggggccagttaccctgggggtcctaacgcc
cccgcaggcatgggcatccctccgcacaccaggccgcctgctgacttcactcagcccgcg
gcagccgctgcagcagcggcagtggcagcagcagcagccacagctacagccacagccacg
gccactgtggcagccctgcaggagacacagaacaaggatataaaccagtatggaccgatg
ggtcccacccaggcgtataacagccaattcatgaaccagcccgggccgcgggggcctgcc
tccatggggggcagcatgaaccccgcgagcatggcggctggcatgacgccctcggggatg
agcggccctcccatgggcatgaaccagccccggccgcccggcatcagcccctttggcaca
cacgggcagcggatgccccagcagacctacccgggcccccggccccagtcccttcctatt
cagaacataaagaggccataccctggagagcccaactatggaaaccagcaatatggacca
aacagccagttccccacccagccaggccagtacccagcccccaaccccccgaggccactc
acctcccccaactacccaggacagaggatgcccagccagccgagctccgggcagtacccg
ccccccacggtcaacatggggcagtattacaagccagaacagtttaatggacaaaataac
acgttctcgggaagcagctacagtaactacagccaagggaatgtcaacaggcctcccagg
ccggttcctgtggcaaattacccccactcacctgttccagggaaccccacaccccccatg
acccctgggagcagcatccctccatacctgtcccccagccaagacgtcaaaccacccttc
ccgcctgacatcaagccaaatatgagcgctctgccaccacccccagccaaccacaatgac
gagctgcggctcacattccctgtgcgggatggcgtggtgctggagcccttccgcctggag
cacaacctggcggtcagcaaccatgtgttccacctgcggcccacggtccaccagacgctg
atgtggaggtctgacctggagctgcagttcaagtgctaccaccacgaggaccggcagatg
aacaccaactggcccgcctcggtgcaggtcagcgtgaacgccacgcccctcaccattgag
cgcggcgacaacaagacctcccacaagcccctgcacctgaagcacgtgtgccagccgggc
cgcaacaccatccagatcaccgtcacggcctgctgctgctcccacctcttcgtgctgcag
ctggtacaccggccctccgtccgctctgtgctgcaaggactcctcaagaagcgcctcctg
cccgcagagcactgtatcacgaaaatcaagcggaatttcagcagcgtggctgcctcctcg
ggcaacacgaccctcaacggggaggatggggtggagcagacggccatcaaggtgtctctg
aagtgccccatcacattccggcgcatccagctgcctgctcgaggacacgattgcaagcat
gtgcagtgctttgatctggagtcatacctgcagctgaattgcgagagagggacctggagg
tgtcctgtgtgcaataaaaccgctctgctggagggcctggaggtggatcagtacatgtgg
ggaatcctgaatgccatccaacactccgagtttgaagaggtcaccatcgatcccacgtgc
agctggcggccggtgcccatcaagtcggacttacacatcaaggacgaccctgatggcatc
ccctccaagcggttcaagaccatgagtcccagccagatgatcatgcccaatgtcatggag
atgatcgcagccctgggccccggcccgtccccctatcccctcccgcctcccccagggggc
accaactccaacgactacagcagccaaggcaacaactaccaaggccatggcaactttgac
ttcccccacgggaaccctggagggacatccatgaatgacttcatgcacgggcccccccag
ctctcccaccccccggacatgcccaacaacatggccgccctcgagaaacccctcagccac
cccatgcaggaaactatgccacacgctggcagctctgaccagccccacccctccatacaa
caaggtttgcacgtaccacaccccagcagccagtcagggcctccattacatcacagtggg
gctcctcctcctcctccttcccagcctccccggcagccgccacaggccgctcccagcagc
catccacacagcgacctgacctttaacccctcctcagccttagagggtcaggccggagcg
cagggagcgtccgacatgccggagccttcgctggatctccttcccgaactcacaaatcct
gacgagctcctgtcttatctggacccccccgacctgccgagcaatagtaacgatgacctc
ctgtctctatttgagaacaactga

  All links  
Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (31)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (28)   
DNA sequence (70)   
   RefSeq(nuc) (28)   
   GenBank (21)   
   EMBL (21)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (134)   

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