Variant position: 1000 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1147 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 VRTSLWRQQQPPAPAPAAQG TSSRPQASALELRGFQRDLSS
Mouse ARTSLWQRQQSPASVQVAHG TSNGPQASALELRGFQHDLSS
Rat ARTSLWRRQQSAASAQGAHG TSNGPQASALELRGFQHDLSS
Pig ARTSLWQRQKPPPPSQASQG SSSGAQASALELRGFQRDLSG
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 – 1147 Sterol regulatory element-binding protein 1
569 – 1147 Cytoplasmic
471 – 1147 Missing. In isoform SREBP-1aDelta and isoform SREBP-1cDelta.
SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.
Yokoyama C.; Wang X.; Briggs M.R.; Admon A.; Wu J.; Hua X.; Goldstein J.L.; Brown M.S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SREBP-1A); NUCLEOTIDE SEQUENCE [MRNA] OF 1-29 (ISOFORM SREBP-1C); NUCLEOTIDE SEQUENCE [MRNA] OF 1035-1147 (ISOFORMS SREBP-1B AND SREBP-1C); PARTIAL PROTEIN SEQUENCE; VARIANT ALA-1000;
Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13.
Hua X.; Wu J.; Goldstein J.L.; Brown M.S.; Hobbs H.H.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-1000;
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.