AKAP8L (A-kinase anchoring protein 8 like)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 26993
• Gene name: A-kinase anchoring protein 8 like
• Gene symbol: AKAP8L
• Synonyms (NCBI Gene): HA95, HAP95, NAKAP, NAKAP95
• Chromosome: 19
• Chromosome location: 19p13.12

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049869	hsa-miR-31-5p	CLASH	23622248
MIRT043966	hsa-miR-378a-5p	CLASH	23622248
MIRT040300	hsa-miR-615-3p	CLASH	23622248

Gene ontology (GO) Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	11034899
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	11402034, 16391387, 16980585, 18313049, 21911577, 32296183, 35271311, 36950384
GO:0005521	Function	Lamin binding	IDA	11034899
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11402034
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10761695
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	11402034
GO:0005737	Component	Cytoplasm	IEA
GO:0006397	Process	MRNA processing	IDA	17594903
GO:0006397	Process	MRNA processing	IEA
GO:0007076	Process	Mitotic chromosome condensation	IBA
GO:0007076	Process	Mitotic chromosome condensation	IMP	11034899
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0010793	Process	Regulation of mRNA export from nucleus	IDA	11402034
GO:0016363	Component	Nuclear matrix	IBA
GO:0016363	Component	Nuclear matrix	IDA	11034899, 16391387
GO:0016363	Component	Nuclear matrix	IEA
GO:0016605	Component	PML body	IEA
GO:0016607	Component	Nuclear speck	IDA	17594903
GO:0016607	Component	Nuclear speck	IEA
GO:0017151	Function	DEAD/H-box RNA helicase binding	TAS	10748171
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA
GO:0042826	Function	Histone deacetylase binding	IDA	16980585
GO:0044839	Process	Cell cycle G2/M phase transition	IMP	16980585
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11884601
GO:0046872	Function	Metal ion binding	IEA
GO:0051081	Process	Nuclear membrane disassembly	IMP	11034899
GO:1990904	Component	Ribonucleoprotein complex	IDA	11402034

Other IDs

• MIM: 609475
• HGNC: 29857
• e!Ensembl: ENSG00000011243

Protein

• UniProt ID: Q9ULX6
• Protein name: A-kinase anchor protein 8-like (AKAP8-like protein) (Helicase A-binding protein 95) (HAP95) (Homologous to AKAP95 protein) (HA95) (Neighbor of A-kinase-anchoring protein 95) (Neighbor of AKAP95)
• Protein function: Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but d
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04988	AKAP95	414 → 549	A-kinase anchoring protein 95 (AKAP95)	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Expressed in the brain cortex (at protein level). {ECO:0000269|PubMed:10697960, ECO:0000269|PubMed:16391387}.
• Sequence:

  MSYTGFVQGSETTLQSTYSDTSAQPTCDYGYGTWNSGTNRGYEGYGYGYGYGQDNTTNYG
  YGMATSHSWEMPSSDTNANTSASGSASADSVLSRINQRLDMVPHLETDMMQGGVYGSGGE
  RYDSYESCDSRAVLSERDLYRSGYDYSELDPEMEMAYEGQYDAYRDQFRMRGNDTFGPRA
  QGWARDARSGRPMASGYGRMWEDPMGARGQCMSGASRLPSLFSQNIIPEYGMFQGMRGGG
  AFPGGSRFGFGFGNGMKQMRRTWKTWTTADFRTKKKKRKQGGSPDEPDSKATRTDCSDNS
  DSDNDEGTEGEATEGLEGTEAVEKGSRVDGEDEEGKEDGREEGKEDPEKGALTTQDENGQ
  TKRKLQAGKKSQDKQKKRQRDRMVERIQFVCSLCKYRTFYEDEMASHLDSKFHKEHFKYV
  GTKLPKQTADFLQEYVTNKTKKTEELRKTVEDLDGLIQQIYRDQDLTQEIAMEHFVKKVE
  AAHCAACDLFIPMQFGIIQKHLKTMDHNRNRRLMMEQSKKSSLMVARSILNNKLISKKLE
  RYLKGENPFTDSPEEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPEPAPGAV
  SPPPPPPPEEEEEGAVPLLGGALQRQIRGIPGLDVEDDEEGGGGAP

• Sequence length: 646

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Lung cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (7)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autistic Disorder	Autism	BEFREE	26076356		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	26076356	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35792657	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	16391387		★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	11884601	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	26076356	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36522343	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for AKAP8L.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to AKAP8L.