Sequence information
Variant position: 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 422 The length of the canonical sequence.
Location on the sequence:
HTGEKPHKCQVCGKAFSQSS
N LITHSRKHTGFKPFGCDLCG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human HTGEKPHKCQVCGKAFSQSSN LITHSRKHTGFKPFGCDLCG
HTGEKPHKCQVCGKAFSQSSN LITHSRKHTGFKPFGCDLCG
Mouse HTGEKPHKCQVCGKAFSQSSN LITHSRKHTGFKPFGCDLCG
Rat HTGEKPHKCQVCGKAFSQSSN LITHSRKHTGFKPFGCDLCG
Drosophila HTGEKPHKCTVCLKAFSQSSN LITHMRKHTGYKPFGCHLCD
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 422
Zinc finger protein Gfi-1
Zinc finger
368 – 390
C2H2-type 5
Literature citations
A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A.
Liu Q.; Basu S.; Qiu Y.; Tang F.; Dong F.;
Oncogene 29:2843-2852(2010)
Cited for: INTERACTION WITH ZBTB17; FUNCTION; INDUCTION; CHARACTERIZATION OF VARIANT SER-382;
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person R.E.; Li F.-Q.; Duan Z.; Benson K.F.; Wechsler J.; Papadaki H.A.; Eliopoulos G.; Kaufman C.; Bertolone S.J.; Nakamoto B.; Papayannopoulou T.; Grimes H.L.; Horwitz M.;
Nat. Genet. 34:308-312(2003)
Cited for: VARIANT NI-CINA ARG-403; VARIANT SCN2 SER-382; CHARACTERIZATION OF VARIANTS NI-CINA ARG-403 AND SCN2 SER-382; FUNCTION;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.