Variant position: 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 246 The length of the canonical sequence.
Location on the sequence:
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 PQYVAQVTSRDGRLLSTVIR ALDTPSDGPFCRICHEG---ANGE
Mouse PQYVAQVTSRDGRLLSTVIR ALDSQSDCPFCRICHEG---A
Rat PQYVAQVTSRDGRLLSTVIR ALDTPSDCPFCRICHEG---A
Bovine PQYVAQVTSRDGRLLSTVIR ALETPSDGPFCRICHEG---A
Xenopus laevis PQYVTQVTAKDGQLLSTVIK ALGTQSDGPICRICHEG---G
Xenopus tropicalis PQYVTQVTAKDGQLLSTVIK ALGTQSDGPICRICHEG---G
Zebrafish AQYVTQVTAKDGRLLSTVIK ALGTQSDRPICRICHEGQDVC
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
1 – 246 E3 ubiquitin-protein ligase MARCHF2
64 – 64 Zinc 1
67 – 67 Zinc 1
64 – 64 C -> S. Abolishes ubiquitination of ERGIC3 and CFTR, and degradation of CFTR; when associated with S-67. Reduces ubiquitination of DLG1 ; when associated with S-67, S-106 and S-109. Reduces inhibition of HIV-1 virus production and VSV G protein expression; when associated with S-67. Abolishes ubiquitination of IKBKG/NEMO; when associated with S-67 and Q-90.
67 – 67 C -> S. Abolishes ubiquitination of ERGIC3 and CFTR, and degradation of CFTR; when associated with S-64. Reduces ubiquitination of DLG1; when associated with S-64, S-106 and S-109. Reduces inhibition of HIV-1 virus production and VSV G protein expression; when associated with S-64. Abolishes ubiquitination of IKBKG/NEMO; when associated with S-64 and Q-90.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT THR-54;
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.