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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
q11.23
Chromosome location (bp)
74027789 - 74069907
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Protein evidence (Ezkurdia et al 2014)
TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the circulatory system Congenital malformations of skin Other congenital disorders Chromosomal abnormalities Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
