InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANKS6

Summary

InnateDB Protein

IDBP-78359.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANKS6

Protein Name

ankyrin repeat and sterile alpha motif domain containing 6

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000297837

InnateDB Gene

IDBG-78357 (ANKS6)

Protein Structure

UniProt Annotation

Function

Required for renal function. {ECO:0000269PubMed:23793029}.

Subcellular Localization

Cell projection, cilium {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Localizes to the proximal region of the primary cilium in the presence of INVS. {ECO:0000250}.

Disease Associations

Nephronophthisis 16 (NPHP16) [MIM:615382]: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. {ECO:0000269PubMed:23793029}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042803	protein homodimerization activity

Biological Process

Cellular Component

GO:0005737	cytoplasm
GO:0005929	cilium

Protein Structure and Domains

PDB ID

InterPro

IPR001660 Sterile alpha motif domain
IPR002110 Ankyrin repeat
IPR011510 Sterile alpha motif, type 2
IPR013761 Sterile alpha motif/pointed domain
IPR020683 Ankyrin repeat-containing domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF00023
PF13606
PF07647
PF11929
PF12796
PF00536

PRINTS

PR01415

PIRSF

SMART

SM00454
SM00248

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt