InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIAA0415

Summary

InnateDB Protein

IDBP-292577.6

Last Modified

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

Gene Symbol

KIAA0415

Protein Name

KIAA0415

Synonyms

KIAA0415; SPG48; zeta;

Species

Homo sapiens

Ensembl Protein

ENSP00000384980

InnateDB Gene

IDBG-404720 (KIAA0415)

Protein Structure

UniProt Annotation

Function

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair. {ECO:0000269PubMed:20613862, ECO:0000269PubMed:22022230}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:20613862}. Nucleus {ECO:0000269PubMed:20613862}. Note=By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic. {ECO:0000269PubMed:20613862}.

Disease Associations

Spastic paraplegia 48, autosomal recessive (SPG48) [MIM:613647]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:20613862}. 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 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000724	double-strand break repair via homologous recombination
GO:0006355	regulation of transcription, DNA-templated
GO:0008219	cell death
GO:0015031	protein transport
GO:0016197	endosomal transport

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0030119	AP-type membrane coat adaptor complex
GO:0044599	AP-5 adaptor complex

Protein Structure and Domains

PDB ID

InterPro

IPR001766 Transcription factor, fork head

PFAM

PF00250

PRINTS

PR00053

PIRSF

SMART

SM00339

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O43299

PhosphoSite

PhosphoSite-O43299

TrEMBL

A4D1Z4

UniProt Splice Variant

Entrez Gene

9907

UniGene

RefSeq

HUGO

HGNC:22197

OMIM

613653

CCDS

HPRD

IMGT

EMBL

AB007875 AC092610 BC008841 BC037399 CH236953 CH471144

GenPept

AAH08841 AAH37399 BAA24845 EAL23965 EAW87297 EAW87298