AHNAK
Summary: The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| AHNAK nucleoprotein | MIM:103390 | Ensembl:ENSG00000124942 | HGNC:HGNC:347 | PA24640 | 11q12.3 |
GO terms in AHNAK
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0044548 | S100 protein binding |
| MF | HDA | GO:0045296 | cadherin binding |
| MF | ISS | GO:0097493 | structural molecule activity conferring elasticity |
| CC | ISS | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | HDA | GO:0005765 | lysosomal membrane |
| CC | IDA | GO:0005829 | cytosol |
| CC | ISS | GO:0005829 | cytosol |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | HDA | GO:0005925 | focal adhesion |
| CC | IDA | GO:0015629 | actin cytoskeleton |
| CC | HDA | GO:0016020 | membrane |
| CC | IBA | GO:0030315 | T-tubule |
| CC | NAS | GO:0030315 | T-tubule |
| CC | IDA | GO:0031982 | vesicle |
| CC | IDA | GO:0042383 | sarcolemma |
| CC | NAS | GO:0042383 | sarcolemma |
| CC | IBA | GO:0043034 | costamere |
| CC | ISS | GO:0043034 | costamere |
| CC | IDA | GO:0044291 | cell-cell contact zone |
| CC | IDA | GO:0045121 | membrane raft |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IDA | GO:0070062 | extracellular exosome |
| BP | IBA | GO:0043484 | regulation of RNA splicing |
| BP | ISS | GO:0043484 | regulation of RNA splicing |
| BP | ISS | GO:0051259 | protein complex oligomerization |
| BP | IMP | GO:1901385 | regulation of voltage-gated calcium channel activity |
Gene expression in normal tissue: AHNAK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD347 | Y-39983 | 1 |
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AHNAK
CLASSFICATION
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