KEGG   Homo sapiens (human): 23397
Entry
23397             CDS       T01001                                 

Gene name
NCAPH, BRRN1, CAP-H, CAPH, MCPH23
Definition
(RefSeq) non-SMC condensin I complex subunit H
  KO
K06676  condensin complex subunit 2
Organism
hsa  Homo sapiens (human)
Disease
H00269  Primary microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    23397 (NCAPH)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Chromosome condensation proteins
   Condensin I
    23397 (NCAPH)
SSDB
Motif
Pfam: Cnd2 MDFI CNDH2_N
Other DBs
NCBI-GeneID: 23397
NCBI-ProteinID: NP_056156
OMIM: 602332
HGNC: 1112
Ensembl: ENSG00000121152
Vega: OTTHUMG00000130451
Pharos: Q15003(Tbio)
UniProt: Q15003
Structure
PDB: 
6IGX

Position
2q11.2
AA seq 741 aa
MGPPGPALPATMNNSSSETRGHPHSASSPSERVFPMPLPRKAPLNIPGTPVLEDFPQNDD
EKERLQRRRSRVFDLQFSTDSPRLLASPSSRSIDISATIPKFTNTQITEHYSTCIKLSTE
NKITTKNAFGLHLIDFMSEILKQKDTEPTNFKVAAGTLDASTKIYAVRVDAVHADVYRVL
GGLGKDAPSLEEVEGHVADGSATEMGTTKKAVKPKKKHLHRTIEQNINNLNVSEADRKCE
IDPMFQKTAASFDECSTAGVFLSTLHCQDYRSELLFPSDVQTLSTGEPLELPELGCVEMT
DLKAPLQQCAEDRQICPSLAGFQFTQWDSETHNESVSALVDKFKKNDQVFDINAEVDESD
CGDFPDGSLGDDFDANDEPDHTAVGDHEEFRSWKEPCQVQSCQEEMISLGDGDIRTMCPL
LSMKPGEYSYFSPRTMSMWAGPDHWRFRPRRKQDAPSQSENKKKSTKKDFEIDFEDDIDF
DVYFRKTKAATILTKSTLENQNWRATTLPTDFNYNVDTLVQLHLKPGTRLLKMAQGHRVE
TEHYEEIEDYDYNNPNDTSNFCPGLQAADSDDEDLDDLFVGPVGNSDLSPYPCHPPKTAQ
QNGDTPEAQGLDITTYGESNLVAEPQKVNKIEIHYAKTAKKMDMKKLKQSMWSLLTALSG
KEADAEANHREAGKEAALAEVADEKMLSGLTKDLQRSLPPVMAQNLSIPLAFACLLHLAN
EKNLKLEGTEDLSDVLVRQGD
NT seq 2226 nt   +upstreamnt  +downstreamnt
atgggacctcccggcccagcactgccagccacaatgaataactcttcttcagagacgcga
ggacacccccacagtgcctcctctccttcagagcgtgtgttcccgatgcccctgcccagg
aaggcgcctctcaatattcctggcaccccagtcctcgaagactttcctcagaatgacgat
gagaaggagcggctgcagcggaggcgctcgagggtctttgatctgcagttcagcactgac
tcacctcgcttattggcctccccctccagcaggagtattgacatttcagctactatcccc
aagtttacaaacacgcagattacggaacattactccacctgtatcaaactgtccactgaa
aataaaatcactaccaagaatgcttttggtttgcacttgattgattttatgtcagagatt
cttaaacagaaagacaccgaaccaaccaactttaaagtggctgcgggtactctggatgcc
agcaccaagatctatgctgtgcgcgtggatgccgtccatgccgatgtatacagagtcctt
ggggggctgggcaaagatgcaccgtctttggaagaagtagaaggccatgttgctgatgga
agtgctactgaaatgggaacaaccaaaaaggctgtaaagccaaagaagaagcacttacac
agaactattgagcagaacataaacaacctcaatgtctccgaagcagatcggaagtgtgag
attgatcccatgtttcagaagacagcagcctcatttgatgagtgcagcacagcaggggtg
tttctgtccactctccactgccaggactacagaagtgaactgctgtttccctctgatgtc
cagactctctccacgggagaacctctcgagttgccagagttaggttgtgtagaaatgaca
gatttaaaagcgcccttgcagcagtgtgcagaagatcgccagatctgcccttccctggcc
gggttccagtttacacagtgggacagtgaaacacataatgagtctgtgtcggccctggta
gacaagtttaagaagaatgaccaggtatttgacatcaatgctgaagttgacgagagtgac
tgtggagacttccccgatgggtccctgggggatgactttgatgccaacgatgaacctgac
cacaccgcagttggggatcatgaagagttcaggagctggaaggagccctgccaggttcag
agctgccaggaagaaatgatttcccttggggatggagacatcaggaccatgtgccccctt
ctgtctatgaaacctggagaatattcttatttcagtcctcggaccatgtcgatgtgggct
ggcccggatcactggcgctttaggcctcgacgcaaacaagatgctccttcccaatcagaa
aacaaaaagaagagtacaaaaaaagattttgaaattgactttgaagatgatattgacttt
gatgtatattttagaaaaacaaaggctgctactattctgaccaagtccactttggagaac
cagaattggagagctaccacccttcctacagatttcaactacaatgttgacactctggtc
cagcttcacctcaaaccaggcaccaggttacttaagatggcccagggccatagggtagag
actgagcattatgaagaaattgaagactatgattacaacaaccctaacgacacctccaac
ttttgccctggattacaggctgctgacagtgatgatgaagatttggatgacttatttgtg
ggacctgttgggaactctgacctctcaccttatccttgccatccacctaagacagcacaa
cagaatggtgacactccagaagcccaaggattagacatcacaacatatggggagtcaaac
ttggtagctgagcctcagaaggtaaataaaattgaaattcactatgccaagactgccaaa
aagatggacatgaagaaactgaagcagagcatgtggagtctgctgacagcgctctccgga
aaggaggcagatgcagaggcaaaccacagggaagctggaaaagaagcggccctggcagaa
gtggctgacgagaagatgcttagcgggctcacgaaggacctgcagaggagcctgccccct
gtcatggctcagaacctctccatacctctggcttttgcctgtctcctacatttagccaat
gaaaagaatctaaaactggaaggaacagaggacctctctgatgttcttgtgaggcaagga
gattga

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