QuickView for NIPBL (gene)

Gene Symbol:

NIPBL Homo sapiens

Full name:

NIPBL, cohesin loading factor

Synonyms:

CDLS, CDLS1, IDN3, IDN3-B, Scc2, nipped-B-like protein, Nipped-B homolog, SCC2 homolog, delangin, sister chromatid cohesion 2 homolog

Genomic Location:

Chr 5: 36912742-37101678

Description:

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in...

View Full Description

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene.

View Less

Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CACTGTG_MIR128A_MIR128B ,  ATGCAGT_MIR217 ,  GABP_B ,  GTATTAT_MIR3693P ,  PAX4_04 ,  SMTTTTGT_UNKNOWN ,  TGIF_01 ,  TFIIA_Q6 ,  PR_02 ,  DR3_Q4 ,  ETS_Q4 ,  TTANTCA_UNKNOWN ,  MZF1_01 ,  GGGATGC_MIR3245P ,  TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D ,  HFH3_01 ,  E2F1_Q4_01 ,  PR_01 ,  E2F4DP1_01 ,  E4BP4_01 ,  AAAYWAACM_HFH4_01 ,  HFH1_01 ,  TTTGTAG_MIR520D ,  HP1SITEFACTOR_Q6 ,  VDR_Q6 ,  E2F_Q6_01 ,  AREB6_04 ,  MEIS1BHOXA9_01 ,  NFKAPPAB_01 ,  GR_Q6_01 ,  RYCACNNRNNRNCAG_UNKNOWN ,  NKX22_01 ,  TTAYRTAA_E4BP4_01 ,  GGGAGGRR_MAZ_Q6 ,  TATAAA_TATA_01 ,  OCT1_Q6 ,  TAGGTCA_MIR192_MIR215 ,  PAX2_01 ,  E2F_Q6 ,  GGATTA_PITX2_Q2 ,  LFA1_Q6 ,  ALPHACP1_01 ,  E2F1_Q6_01 ,  FREAC3_01 ,  P53_02 ,  ETS2_B ,  AP4_01 ,  AP2_Q6_01 ,  E2F_Q4 ,  HNF4_Q6 ,  RRAGTTGT_UNKNOWN ,  GCAAAAA_MIR129 ,  GGGCGGR_SP1_Q6 ,  E2F1DP2_01 ,  GTGCCAA_MIR96 ,  NKX61_01 ,  MGGAAGTG_GABP_B ,  GCM_Q2 ,  POU1F1_Q6 ,  TGTTTGY_HNF3_Q6 ,  SOX5_01 ,  E2F_03 ,  KCCGNSWTTT_UNKNOWN ,  AHRARNT_01 ,  E2F1DP1_01 ,  E2F_Q4_01 ,  MEIS1AHOXA9_01 ,  TCTATGA_MIR376A_MIR376B ,  FREAC2_01 ,  CETS1P54_01 ,  AACATTC_MIR4093P ,  TTGTTT_FOXO4_01 ,  GR_01 ,  E2F1DP1RB_01 ,  SCGGAAGY_ELK1_02 ,  AFP1_Q6 ,  WTTGKCTG_UNKNOWN ,  E2F_02 ,  RGAGGAARY_PU1_Q6 ,  NRF2_01 ,  SREBP_Q3 ,  ZIC2_01 ,  CTGCAGY_UNKNOWN ,  E2F1_Q3 ,  TGATTTRY_GFI1_01 ,  TGACAGNY_MEIS1_01 ,  ICSBP_Q6 ,  E2F4DP2_01 ,  EGR1_01 ,  ER_Q6_01 ,  CAGCTG_AP4_Q5 ,  MMEF2_Q6 ,  ELK1_02 ,  GCTNWTTGK_UNKNOWN ,  SRY_02 ,  AACTTT_UNKNOWN ,  PAX4_03 ,  YNGTTNNNATT_UNKNOWN ,  E2F_Q3 ,  CRX_Q4 ,  DR4_Q2 ,  ETS1_B ,  E2F_Q3_01 ,  NFKB_Q6 ,  CEBPGAMMA_Q6 ,  HNF6_Q6 ,  PAX4_01 ,  TATTATA_MIR374 ,  CCTNTMAGA_UNKNOWN ,  E2F1_Q6 ,  SGCGSSAAA_E2F1DP2_01 ,  MYB_Q3 ,  TCF11_01 ,  MEF2_Q6_01

View More

View Less

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-128 ,  Predicted Gene Targets for miR-129 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-186 ,  Predicted Gene Targets for miR-192 ,  Predicted Gene Targets for miR-200b ,  Predicted Gene Targets for miR-217 ,  Predicted Gene Targets for miR-25 ,  Predicted Gene Targets for miR-26 ,  Predicted Gene Targets for miR-30-3p ,  Predicted Gene Targets for miR-324-5p ,  Predicted Gene Targets for miR-369-3p ,  Predicted Gene Targets for miR-450 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-376 ,  Predicted Gene Targets for miR-182 ,  Predicted Gene Targets for miR-374 ,  Predicted Gene Targets for miR-375 ,  Predicted Gene Targets for miR-409-3p ,  Predicted Gene Targets for miR-486 ,  Predicted Gene Targets for miR-495 ,  Predicted Gene Targets for miR-496 ,  Predicted Gene Targets for miR-543 ,  Predicted Gene Targets for miR-544

View More

View Less

Cytogenetic Map:

5p13.2

search → result