DNAJB13
Summary: This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DnaJ heat shock protein family (Hsp40) member B13 | MIM:610263 | Ensembl:ENSG00000187726 | HGNC:HGNC:30718 | PA142671972 | 11q13.4 |
GO terms in DNAJB13
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0051082 | unfolded protein binding |
| MF | IEA | GO:0051082 | unfolded protein binding |
| MF | IBA | GO:0051087 | chaperone binding |
| CC | IBA | GO:0005829 | cytosol |
| CC | IEA | GO:0005930 | axoneme |
| CC | IBA | GO:0031514 | motile cilium |
| CC | IDA | GO:0031514 | motile cilium |
| CC | IDA | GO:0036126 | sperm flagellum |
| CC | ISS | GO:0097224 | sperm connecting piece |
| BP | IEA | GO:0006457 | protein folding |
| BP | IBA | GO:0051085 | chaperone cofactor-dependent protein refolding |
| BP | IMP | GO:1904158 | axonemal central apparatus assembly |
Gene expression in normal tissue: DNAJB13
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNAJB13
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNAJB13
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.