• Gene id: 8165

Gene Summary

• Gene Symbol: AKAP1   Gene   UCSC   Ensembl
• Aliases: AKAP, AKAP121, AKAP149, AKAP84, D-AKAP1, PPP1R43, PRKA1, SAKAP84, TDRD17
• Gene name: A-kinase anchoring protein 1
• Alternate names: A-kinase anchor protein 1, mitochondrial, A kinase (PRKA) anchor protein 1, A-kinase anchor protein 149 kDa, AKAP 149, D-AKAP-1, dual-specificity A-kinase anchoring protein 1, protein kinase A anchoring protein 1, protein kinase A1, protein phosphatase 1, regulat,
• Gene location: 17q22 (57085245: 57121343)     Exons: 6     NC_000017.11
• 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: 602449

Protein Summary

• Protein general information: Q92667  
  • Name: A kinase anchor protein 1, mitochondrial (A kinase anchor protein 149 kDa) (AKAP 149) (Dual specificity A kinase anchoring protein 1) (D AKAP 1) (Protein kinase A anchoring protein 1) (PRKA1) (Spermatid A kinase anchor protein 84) (S AKAP84)
  • Length: 903  
  • Mass: 97342
  • Tissue specificity: Isoform 1 is detected in thymus, prostate, testis, ovary, colon and small intestine (PubMed
• Sequence:

  MAIQFRSLFPLALPGMLALLGWWWFFSRKKGHVSSHDEQQVEAGAVQLRADPAIKEPLPVEDVCPKVVSTPPSVT
  EPPEKELSTVSKLPAEPPALLQTHPPCRRSESSGILPNTTDMRLRPGTRRDDSTKLELALTGGEAKSIPLECPLS
  SPKGVLFSSKSAEVCKQDSPFSRVPRKVQPGYPVVPAEKRSSGERARETGGAEGTGDAVLGEKVLEEALLSREHV
  LELENSKGPSLASLEGEEDKGKSSSSQVVGPVQEEEYVAEKLPSRFIESAHTELAKDDAAPAPPVADAKAQDRGV
  EGELGNEESLDRNEEGLDRNEEGLDRNEESLDRNEEGLDRNEEIKRAAFQIISQVISEATEQVLATTVGKVAGRV
  CQASQLQGQKEESCVPVHQKTVLGPDTAEPATAEAAVAPPDAGLPLPGLPAEGSPPPKTYVSCLKSLLSSPTKDS
  KPNISAHHISLASCLALTTPSEELPDRAGILVEDATCVTCMSDSSQSVPLVASPGHCSDSFSTSGLEDSCTETSS
  SPRDKAITPPLPESTVPFSNGVLKGELSDLGAEDGWTMDAEADHSGGSDRNSMDSVDSCCSLKKTESFQNAQAGS
  NPKKVDLIIWEIEVPKHLVGRLIGKQGRYVSFLKQTSGAKIYISTLPYTQSVQICHIEGSQHHVDKALNLIGKKF
  KELNLTNIYAPPLPSLALPSLPMTSWLMLPDGITVEVIVVNQVNAGHLFVQQHTHPTFHALRSLDQQMYLCYSQP
  GIPTLPTPVEITVICAAPGADGAWWRAQVVASYEETNEVEIRYVDYGGYKRVKVDVLRQIRSDFVTLPFQGAEVL
  LDSVMPLSDDDQFSPEADAAMSEMTGNTALLAQVTSYSPTGLPLIQLWSVVGDEVVLINRSLVERGLAQWVDSYY
  TSL

• Structural information:
  • Protein Domains: (607..67-)
    (/note="KH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00117-)
    (758..81-)
    (/note="Tudor-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00211"-)
  • Interpro: IPR033104  IPR004087  IPR004088  IPR036612  IPR035437   IPR002999  
  • Prosite: PS50084 PS50304
  • STRING: ENSP00000478212
• Other Databases: GeneCards:  AKAP1  Malacards:  AKAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0140374	antiviral innate immune response	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034237	protein kinase A regulatory subunit binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0010738	regulation of protein kinase A signaling	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0034237	protein kinase A regulatory subunit binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R