Kr-h1

Drosophila melanogaster

Kruppel homolog 1 (Kr-h1) encodes a transcriptional regulator involved in axon pathfinding, neurite and axon remodeling as well as pupal photoreceptor maturation. In all cases, the function of the product of Kr-h1 is linked to that of the 20-hydroxyecdysone hormone.

H45

Mus musculus

PHENOTYPE: This locus was detected in skin grafting experiments using C57BL/10 and B10 strains congenic for Chr 2 loci in combinations and F1 tests. The a allele occurs in C57BL/10, the b allele in B10.KR-a and B10.KR-Aw. [provided by MGI curators]

pdm2

Drosophila melanogaster

POU domain protein 2 (pdm2) encodes a transcription factor that plays multiple roles in neurogenesis, including acting as a temporal identity gene and a timing gene required for the termination of the Kr temporal identity window.

Bin1

Drosophila melanogaster

Bicoid interacting protein 1 (Bin1) interacts with sequence-specific transcription factors (e.g. the product of bcd, Kr, Trl) to help recruit the Sin3A-HDAC1 histone deacetylase co-repressor complex to target genes. The product of Bin1 contributes to axis patterning and embryonic segmentation via transcription regulation.

Glis1

Homo sapiens

GLIS1 is a GLI (MIM 165220)-related Kruppel-like zinc finger protein that functions as an activator and repressor of transcription (Kim et al., 2002 [PubMed 12042312]).[supplied by OMIM, Mar 2008]

Adig

Homo sapiens

ADIG/SMAF1 is an adipocyte-specific protein that plays a role in adipocyte differentiation (Kim et al., 2005 [PubMed 15567149]; Hong et al., 2005 [PubMed 16132694]).[supplied by OMIM, Mar 2008]

Cerk

Homo sapiens

CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]

Son

Mus musculus

PHENOTYPE: Homozygous null mice die before E6.5-7.5. Heterozygous mice model Zhu-Tokita-Takenouchi-Kim syndrome, with growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis, hematopoietic abnormalities including leukopenia and immunoglobulin deficiency and impaired erythropoiesis. [provided by MGI curators]

Ctif

Homo sapiens

CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]

Senp6

Homo sapiens

Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]