Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8852
Gene name	A-kinase anchoring protein 4
Gene symbol	AKAP4
Synonyms (NCBI Gene)	AKAP 82AKAP-4AKAP82CT99FSC1HIPRKA4hAKAP82p82
Chromosome	X
Chromosome location	Xp11.22
Summary	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

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022331	hsa-miR-124-3p	Microarray	18668037
MIRT023610	hsa-miR-1-3p	Microarray	18668037
MIRT775802	hsa-miR-181a	CLIP-seq
MIRT775803	hsa-miR-181b	CLIP-seq
MIRT775804	hsa-miR-181c	CLIP-seq
MIRT775805	hsa-miR-181d	CLIP-seq
MIRT775806	hsa-miR-27a	CLIP-seq
MIRT775807	hsa-miR-27b	CLIP-seq
MIRT775808	hsa-miR-4262	CLIP-seq
MIRT775809	hsa-miR-4742-5p	CLIP-seq
MIRT775810	hsa-miR-513a-5p	CLIP-seq
MIRT775811	hsa-miR-600	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27913189
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005856	Component	Cytoskeleton	TAS	9822690
GO:0005929	Component	Cilium	IEA
GO:0005952	Component	CAMP-dependent protein kinase complex	NAS	9822690
GO:0007165	Process	Signal transduction	TAS	9822690
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IBA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007338	Process	Single fertilization	TAS	9822690
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0030018	Component	Z disc	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	9822690, 38050179
GO:0031514	Component	Motile cilium	IDA	9822690
GO:0031514	Component	Motile cilium	IEA
GO:0035686	Component	Sperm fibrous sheath	IBA
GO:0035686	Component	Sperm fibrous sheath	IDA	9822690
GO:0035686	Component	Sperm fibrous sheath	IEA
GO:0036126	Component	Sperm flagellum	IDA	34415320
GO:0036126	Component	Sperm flagellum	IDA	31429579
GO:0042995	Component	Cell projection	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051018	Function	Protein kinase A binding	IBA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051018	Function	Protein kinase A binding	ISS
GO:0051018	Function	Protein kinase A binding	TAS	9822690
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0097225	Component	Sperm midpiece	IDA	30745215
GO:0097228	Component	Sperm principal piece	IBA
GO:0097228	Component	Sperm principal piece	IDA	30137358, 30745215
GO:0097228	Component	Sperm principal piece	IEA
GO:0097229	Component	Sperm end piece	IDA	30745215
GO:0120212	Component	Sperm head-tail coupling apparatus	IDA	30745215
GO:0120316	Process	Sperm flagellum assembly	IEA

MIM	HGNC	e!Ensembl
300185	374	ENSG00000147081

Q5JQC9

Protein 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)

Protein function

Major structural component of sperm fibrous sheath (PubMed:9822690). Plays a role in sperm motility (PubMed:34415320, PubMed:9822690).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10522	RII_binding_1	215 → 233	RII binding domain	Motif
PF05716	AKAP_110	241 → 526	A-kinase anchor protein 110 kDa (AKAP 110)	Family
PF05716	AKAP_110	520 → 737	A-kinase anchor protein 110 kDa (AKAP 110)	Family
PF05716	AKAP_110	738 → 854	A-kinase anchor protein 110 kDa (AKAP 110)	Family

Tissue specificity

TISSUE SPECIFICITY: Testis specific; only expressed in round spermatids. {ECO:0000269|PubMed:9514854}.

Sequence

MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICFVDVSTLNVEDKDYKDA
ASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQAPSDPVSVLNWLLSDLQK
YALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYADQVNIDYLMNRPQNLRLEMT
AAKNTNNNQSPSAPPAKPPSTQRAVISPDGECSIDDLSFYVNRLSSLVIQMAHKEIKEKL
EGKSKCLHHSICPSPGNKERISPRTPASKIASEMAYEAVELTAAEMRGTGEESREGGQKS
FLYSELSNKSKSGDKQMSQRESKEFADSISKGLMVYANQVASDMMVSLMKTLKVHSSGKP
IPASVVLKRVLLRHTKEIVSDLIDSCMKNLHNITGVLMTDSDFVSAVKRNLFNQWKQNAT
DIMEAMLKRLVSALIGEEKETKSQSLSYASLKAGSHDPKCRNQSLEFSTMKAEMKERDKG
KMKSDPCKSLTSAEKVGEHILKEGLTIWNQKQGNSCKVATKACSNKDEKGEKINASTDSL
AKDLIVSALKLIQYHLTQQTKGKDTCEEDCPGSTMGYMAQSTQYEKCGGGQSAKALSVKQ
LESHRAPGPSTCQKENQHLDSQKMDMSNIVLMLIQKLLNENPFKCEDPCEGENKCSEPRA
SKAASMSNRSDKAEEQCQEHQELDCTSGMKQANGQFIDKLVESVMKLCLIMAKYSNDGAA
LAELEEQAASANKPNFRGTRCIHSGAMPQNYQDSLGHEVIVNNQCSTNSLQKQLQAVLQW
IAASQFNVPMLYFMGDKDGQLEKLPQVSAKAAEKGYSVGGLLQEVMKFAKERQPDEAVGK
VARKQLLDWLLANL

Sequence length

854

Interactions

View interactions

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)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Azoospermia	Associate	37087050	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	23451156	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	25739119, 26160834	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	29480665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Associate	38027210	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous Dysplasia of Bone	Associate	11229805	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Associate	35663320	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Associate	29984477	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Associate	26875896	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	25739119, 26160834	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	29480665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	19088187, 25739119, 26160834, 29480665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Associate	37087050	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Associate	23478221	★★★★★ ★☆☆☆☆ Found in Text Mining only
Virilism	Associate	35663320	★★★★★ ★☆☆☆☆ Found in Text Mining only

AKAP4 (A-kinase anchoring protein 4)