• Gene id: 8852

Gene Summary

• Gene Symbol: AKAP4   Gene   UCSC   Ensembl
• Aliases: AKAP 82, AKAP-4, AKAP82, CT99, FSC1, HI, PRKA4, hAKAP82, p82
• Gene name: A-kinase anchoring protein 4
• Alternate names: A-kinase anchor protein 4, A kinase (PRKA) anchor protein 4, A-kinase anchor protein 82 kDa, cancer/testis antigen 99, major sperm fibrous sheath protein, protein kinase A anchoring protein 4, testis-specific gene HI,
• Gene location: Xp11.22 (50201012: 50190767)     Exons: 7     NC_000023.11
• 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: 300185

Protein Summary

• Protein general information: Q5JQC9  
  • Name: A kinase anchor protein 4 (AKAP 4) (A kinase anchor protein 82 kDa) (AKAP 82) (hAKAP82) (Major sperm fibrous sheath protein) (HI) (Protein kinase A anchoring protein 4) (PRKA4)
  • Length: 854  
  • Mass: 94,477
• Sequence:

  MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDAASSSSEGNLNLGSLE
  EKEIIVIKDTEKKDQSKTEGSVCLFKQAPSDPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRA
  SSENCYSVYADQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDGECSIDDLSFYVNRLS
  SLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKS
  FLYSELSNKSKSGDKQMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHT
  KEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNATDIMEAMLKRLVSALIGEEKETKSQSLSYAS
  LKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSN
  KDEKGEKINASTDSLAKDLIVSALKLIQYHLTQQTKGKDTCEEDCPGSTMGYMAQSTQYEKCGGGQSAKALSVKQ
  LESHRAPGPSTCQKENQHLDSQKMDMSNIVLMLIQKLLNENPFKCEDPCEGENKCSEPRASKAASMSNRSDKAEE
  QCQEHQELDCTSGMKQANGQFIDKLVESVMKLCLIMAKYSNDGAALAELEEQAASANKPNFRGTRCIHSGAMPQN
  YQDSLGHEVIVNNQCSTNSLQKQLQAVLQWIAASQFNVPMLYFMGDKDGQLEKLPQVSAKAAEKGYSVGGLLQEV
  MKFAKERQPDEAVGKVARKQLLDWLLANL

• Structural information:
  • Interpro: IPR020799  IPR018292  IPR018459  IPR008382  
  • STRING: ENSP00000351327
• Other Databases: GeneCards:  AKAP4  Malacards:  AKAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005952	cAMP-dependent protein kinase complex	NAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0007338	single fertilization	TAS	biological process
GO:0010738	regulation of protein kinase A signaling	IBA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0031514	motile cilium	IDA	cellular component
GO:0035686	sperm fibrous sheath	IBA	cellular component
GO:0044458	motile cilium assembly	IEA	biological process
GO:0045184	establishment of protein localization	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051018	protein kinase A binding	ISS	molecular function
GO:0097228	sperm principal piece	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005952	cAMP-dependent protein kinase complex	NAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0007338	single fertilization	TAS	biological process
GO:0008104	protein localization	IEA	biological process
GO:0010738	regulation of protein kinase A signaling	IBA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0031514	motile cilium	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0031514	motile cilium	IDA	cellular component
GO:0035686	sperm fibrous sheath	IEA	cellular component
GO:0035686	sperm fibrous sheath	IBA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0044458	motile cilium assembly	IEA	biological process
GO:0045184	establishment of protein localization	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051018	protein kinase A binding	IEA	molecular function
GO:0051018	protein kinase A binding	ISS	molecular function
GO:0051018	protein kinase A binding	TAS	molecular function
GO:0097228	sperm principal piece	IEA	cellular component
GO:0097228	sperm principal piece	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005952	cAMP-dependent protein kinase complex	NAS	cellular component
GO:0006928	movement of cell or subcellular component	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007338	single fertilization	TAS	biological process
GO:0010738	regulation of protein kinase A signaling	IBA	biological process
GO:0030317	flagellated sperm motility	IMP	biological process
GO:0031514	motile cilium	IDA	cellular component
GO:0035686	sperm fibrous sheath	IBA	cellular component
GO:0051018	protein kinase A binding	ISS	molecular function
GO:0051018	protein kinase A binding	TAS	molecular function
GO:0097228	sperm principal piece	IBA	cellular component

Diseases

Associated diseases	References
Male factor infertility	MIK: 21255775
Sperm motility	MIK: 17712481
Asthenozoospermia	MIK: 21255775
Asthenozoospermia	MIK: 16398361
Spermatogenic defects	MIK: 22190698
Asthenozoospermia	MIK: 25825237
Hypospermatogenesis	MIK: 28361989
Male infertility with sperm fibrous sheath dysplasia	MIK: 15980003
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25825237	Asthenozoospermia				Male infertility	Tubulin beta 2B; glutathione S-transferase Mu 3; keratin type II cytoskeletal 1; outer dense fiber protein 2; voltage-dependent anion-selective channel protein 2; A-kinase anchor protein 4; cytochrome c oxidase subunit 6B; sperm protein associated with t
21255775	Asthenozoospermia	AKAP4 (c.887G>A -> p.Gly296Asn), CATSPER4 (c.247A>G -> p.Met83Val; c.157T>C -> p.Tyr53His; c.992G>A -> p.Gly331Asn), CATSPER1 (c.148G>A -> p.Val50Met), CATSPER3 (c.193T>C -> p.Phe65Leu), CATSPER2 (c.1289C>G -> p.Thr430Arg), PLA2G6 (c.187A>G -> p.Arg63Gly		30 men with isolated asthenozoospermia	Male infertility	ADCY10 AKAP4 CATSPER1 CATSPER2 CATSPER3 CATSPER4  GAPDHS PLA2G6 and SLC9A10
17712481	Sperm motility				Male infertility	AKAP4
16398361	Asthenospermia			68 (41 patients with asthenospermia (experimental group), 27 healthy fertile men (control group))	Male infertility	AKAP82
15980003	Male infertility with sperm fibrous sheath dysplasia				Male infertility
12167408	Required for the organization and integrity of the fibrous sheath and that effective sperm motility				Male infertility
10460219	Differences in motility				Male infertility
29581387	Reduced sperm motility			205 semen samples from both asthenozoospermia patients, normozoospermia individuals	Male infertility
22190698	Associated with spermiogenesis				Male infertility
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray