• Gene id: 9472

Gene Summary

• Gene Symbol: AKAP6   Gene   UCSC   Ensembl
• Aliases: ADAP100, ADAP6, AKAP100, PRKA6, mAKAP
• Gene name: A-kinase anchoring protein 6
• Alternate names: A-kinase anchor protein 6, A kinase (PRKA) anchor protein 6, A-kinase anchor protein 100 kDa, AKAP 100, AKAP-6, protein kinase A anchoring protein 6,
• Gene location: 14q12 (32203609: 32837683)     Exons: 24     NC_000014.9
• Gene summary(Entrez): The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene
• OMIM: 601130

Protein Summary

• Protein general information: Q13023  
  • Name: A kinase anchor protein 6 (AKAP 6) (A kinase anchor protein 100 kDa) (AKAP 100) (Protein kinase A anchoring protein 6) (PRKA6) (mAKAP)
  • Length: 2319  
  • Mass: 256720
  • Tissue specificity: Highly expressed in cardiac and skeletal muscle, followed by brain.
• Sequence:

  MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIET
  WLRMTSERVRDLTYSVQQDSDSKHVDVHLVQLKDICEDISDHVEQIHALLETEFSLKLLSYSVNVIVDIHAVQLL
  WHQLRVSVLVLRERILQGLQDANGNYTRQTDILQAFSEETKEGRLDSLTEVDDSGQLTIKCSQNYLSLDCGITAF
  ELSDYSPSEDLLSGLGDMTSSQVKTKPFDSWSYSEMEKEFPELIRSVGLLTVAADSISTNGSEAVTEEVSQVSLS
  VDDKGGCEEDNASAVEEQPGLTLGVSSSSGEALTNAAQPSSETVQQESSSSSHHDAKNQQPVPCENATPKRTIRD
  CFNYNEDSPTQPTLPKRGLFLKEETFKNDLKGNGGKRQMVDLKPEMSRSTPSLVDPPDRSKLCLVLQSSYPNSPS
  AASQSYECLHKVGNGNLENTVKFHIKEISSSLGRLNDCYKEKSRLKKPHKTSEEVPPCRTPKRGTGSGKQAKNTK
  SSAVPNGELSYTSKAIEGPQTNSASTSSLEPCNQRSWNAKLQLQSETSSSPAFTQSSESSVGSDNIMSPVPLLSK
  HKSKKGQASSPSHVTRNGEVVEAWYGSDEYLALPSHLKQTEVLALKLENLTKLLPQKPRGETIQNIDDWELSEMN
  SDSEIYPTYHVKKKHTRLGRVSPSSSSDIASSLGESIESGPLSDILSDEESSMPLAGMKKYADEKSERASSSEKN
  ESHSATKSALIQKLMQDIQHQDNYEAIWEKIEGFVNKLDEFIQWLNEAMETTENWTPPKAEMDDLKLYLETHLSF
  KLNVDSHCALKEAVEEEGHQLLELIASHKAGLKDMLRMIASQWKELQRQIKRQHSWILRALDTIKAEILATDVSV
  EDEEGTGSPKAEVQLCYLEAQRDAVEQMSLKLYSEQYTSSSKRKEEFADMSKVHSVGSNGLLDFDSEYQELWDWL
  IDMESLVMDSHDLMMSEEQQQHLYKRYSVEMSIRHLKKTELLSKVEALKKGGVLLPNDLLEKVDSINEKWELLGK
  TLGEKIQDTMAGHSGSSPRDLLSPESGSLVRQLEVRIKELKGWLRDTELFIFNSCLRQEKEGTMNTEKQLQYFKS
  LCREIKQRRRGVASILRLCQHLLDDRETCNLNADHQPMQLIIVNLERRWEAIVMQAVQWQTRLQKKMGKESETLN
  VIDPGLMDLNGMSEDALEWDEMDISNKLISLNEESNDLDQELQPVIPSLKLGETSNEDPGYDEEADNHGGSQYAS
  NITAPSSPHIYQVYSLHNVELYEDNHMPFLKNNPKVTGMTQPNVLTKSLSKDSSFSSTKSLPDLLGGSNLVKPCA
  CHGGDMSQNSGSESGIVSEGDTETTTNSEMCLLNAVDGSPSNLETEHLDPQMGDAVNVLKQKFTDEGESIKLPNS
  SQSSISPVGCVNGKVGDLNSITKHTPDCLGEELQGKHDVFTFYDYSYLQGSKLKLPMIMKQSQSEKAHVEDPLLR
  GFYFDKKSCKSKHQTTELQPDVPPHERILASASHEMDRISYKSGNIEKTFTGMQNAKQLSLLSHSSSIESLSPGG
  DLFGLGIFKNGSDSLQRSTSLESWLTSYKSNEDLFSCHSSGDISVSSGSVGELSKRTLDLLNRLENIQSPSEQKI
  KRSVSDITLQSSSQKMSFTGQMSLDIASSINEDSAASLTELSSSDELSLCSEDIVLHKNKIPESNASFRKRLTRS
  VADESDVNVSMIVNVSCTSACTDDEDDSDLLSSSTLTLTEEELCIKDEDDDSSIATDDEIYEDCTLMSGLDYIKN
  ELQTWIRPKLSLTRDKKRCNVSDEMKGSKDISSSEMTNPSDTLNIETLLNGSVKRVSENNGNGKNSSHTHELGTK
  RENKKTIFKVNKDPYVADMENGNIEGIPERQKGKPNVTSKVSENLGSHGKEISESEHCKCKALMDSLDDSNTAGK
  EFVSQDVRHLPKKCPNHHHFENQSTASTPTEKSFSELALETRFNNRQDSDALKSSDDAPSMAGKSAGCCLALEQN
  GTEENASISNISCCNCEPDVFHQKDAEDCSVHNFVKEIIDMASTALKSKSQPENEVAAPTSLTQIKEKVLEHSHR
  PIQLRKGDFYSYLSLSSHDSDCGEVTNYIEEKSSTPLPLDTTDSGLDDKEDIECFFEACVEGDSDGEEPCFSSAP
  PNESAVPSEAAMPLQATACSSEFSDSSLSADDADTVALSSPSSQERAEVGKEVNGLPQTSSGCAENLEFTPSKLD
  SEKESSGKPGESGMPEEHNAASAKSKVQDLSLKANQPTDKAALHPSPKTLTCEENLLNLHEKRHRNMHR

• Structural information:
  • Interpro: IPR018159  
  • STRING: ENSP00000280979
• Other Databases: GeneCards:  AKAP6  Malacards:  AKAP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051018	protein kinase A binding	IBA	molecular function
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0044325	ion channel binding	IBA	molecular function
GO:0016529	sarcoplasmic reticulum	IBA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0034237	protein kinase A regulatory subunit binding	ISS	molecular function
GO:0043495	protein-membrane adaptor activity	ISS	molecular function
GO:0044325	ion channel binding	IPI	molecular function
GO:0051018	protein kinase A binding	TAS	molecular function
GO:0008179	adenylate cyclase binding	ISS	molecular function
GO:0060090	molecular adaptor activity	ISS	molecular function
GO:0001508	action potential	IC	biological process
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IC	biological process
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0010738	regulation of protein kinase A signaling	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0060306	regulation of membrane repolarization	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:1901381	positive regulation of potassium ion transmembrane transport	IDA	biological process
GO:0005901	caveola	ISS	cellular component
GO:0014704	intercalated disc	ISS	cellular component
GO:0019933	cAMP-mediated signaling	NAS	biological process
GO:0030315	T-tubule	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0060316	positive regulation of ryanodine-sensitive calcium-release channel activity	ISS	biological process
GO:0034704	calcium channel complex	IDA	cellular component
GO:1902261	positive regulation of delayed rectifier potassium channel activity	IDA	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0014701	junctional sarcoplasmic reticulum membrane	ISS	cellular component
GO:0030307	positive regulation of cell growth	ISS	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	ISS	biological process
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	ISS	biological process
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	ISS	biological process
GO:0071345	cellular response to cytokine stimulus	ISS	biological process
GO:0031965	nuclear membrane	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0051018	protein kinase A binding	NAS	molecular function
GO:0006605	protein targeting	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006605	protein targeting	NAS	biological process

Diseases

Associated diseases	References
ovary epithelial cancer	PMID:29979793
Anorexia nervosa	PMID:21079607
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray