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	10566
Gene name	A-kinase anchoring protein 3
Gene symbol	AKAP3
Synonyms (NCBI Gene)	AKAP 110AKAP110CT82FSP95HEL159PRKA3SOB1SPGF82
Chromosome	12
Chromosome location	12p13.32
Summary	This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions

Show/Hide all (7)

miRTarBase ID	miRNA	Experiments
MIRT775800	hsa-miR-3153	CLIP-seq
MIRT775801	hsa-miR-4519	CLIP-seq
MIRT2169640	hsa-miR-3611	CLIP-seq
MIRT2169641	hsa-miR-3650	CLIP-seq
MIRT2169642	hsa-miR-4693-3p	CLIP-seq
MIRT2169643	hsa-miR-4699-5p	CLIP-seq
MIRT2169644	hsa-miR-4712-3p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001835	Process	Blastocyst hatching	IEA
GO:0005515	Function	Protein binding	IPI	11278869, 15257753, 18421703, 25820252, 30683861
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005929	Component	Cilium	IEA
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:0007338	Process	Single fertilization	TAS	10319321, 10334916
GO:0007340	Process	Acrosome reaction	TAS	10319321
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035686	Component	Sperm fibrous sheath	IEA
GO:0035686	Component	Sperm fibrous sheath	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045184	Process	Establishment of protein localization	ISS
GO:0051018	Function	Protein kinase A binding	IBA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051018	Function	Protein kinase A binding	TAS	10319321
GO:0097225	Component	Sperm midpiece	IDA	30745215
GO:0097228	Component	Sperm principal piece	IBA
GO:0097228	Component	Sperm principal piece	IDA	15257753, 30745215
GO:0097228	Component	Sperm principal piece	IEA

MIM	HGNC	e!Ensembl
604689	373	ENSG00000111254

O75969

Protein name

A-kinase anchor protein 3 (AKAP-3) (A-kinase anchor protein 110 kDa) (AKAP 110) (Cancer/testis antigen 82) (CT82) (Fibrous sheath protein of 95 kDa) (FSP95) (Fibrousheathin I) (Fibrousheathin-1) (Protein kinase A-anchoring protein 3) (PRKA3) (Sperm oocyte

Protein function

Structural component of sperm fibrous sheath (By similarity). Required for the formation of the subcellular structure of the sperm flagellum, sperm motility and male fertility (PubMed:35228300). {ECO:0000250|UniProtKB:O88987, ECO:0000269|PubMed:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10522	RII_binding_1	122 → 140	RII binding domain	Motif
PF05716	AKAP_110	166 → 853	A-kinase anchor protein 110 kDa (AKAP 110)	Family

Tissue specificity

TISSUE SPECIFICITY: Testis specific; only expressed in spermatids. {ECO:0000269|PubMed:10334916}.

Sequence

MSEKVDWLQSQNGVCKVDVYSPGDNQAQDWKMDTSTDPVRVLSWLRRDLEKSTAEFQDVR
FKPGESFGGETSNSGDPHKGFSVDYYNTTTKGTPERLHFEMTHKEIPCQGPRAQLGNGSS
VDEVSFYANRLTNLVIAMARKEINEKIDGSENKCVYQSLYMGNEPTPTKSLSKIASELVN
ETVSACSRNAAPDKAPGSGDRVSGSSQSPPNLKYKSTLKIKESTKERQGPDDKPPSKKSF
FYKEVFESRNGDYAREGGRFFPRERKRFRGQERPDDFTASVSEGIMTYANSVVSDMMVSI
MKTLKIQVKDTTIATILLKKVLLKHAKEVVSDLIDSFLRNLHSVTGTLMTDTQFVSAVKR
TVFSHGSQKATDIMDAMLRKLYNVMFAKKVPEHVRKAQDKAESYSLISMKGMGDPKNRNV
NFAMKSETKLREKMYSEPKSEEETCAKTLGEHIIKEGLTLWHKTQQKECKSLGFQHAAFE
APNTQRKPASDISFEYPEDIGNLSLPPYPPEKPENFMYDSDSWAEDLIVSALLLIQYHLA
QGGRRDARSFVEAAGTTNFPANEPPVAPDESCLKSAPIVGDQEQAEKKDLRSVFFNFIRN
LLSETIFKRDQSPEPKVPEQPVKEDRKLCERPLASSPPRLYEDDETPGALSGLTKMAVSQ
IDGHMSGQMVEHLMNSVMKLCVIIAKSCDASLAELGDDKSGDASRLTSAFPDSLYECLPA
KGTGSAEAVLQNAYQAIHNEMRGTSGQPPEGCAAPTVIVSNHNLTDTVQNKQLQAVLQWV
AASELNVPILYFAGDDEGIQEKLLQLSAAAVDKGCSVGEVLQSVLRYEKERQLNEAVGNV
TPLQLLDWLMVNL

Sequence length

853

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 82	Pathogenic	rs1220814973, rs150896332	RCV003224792 RCV003224793	★★★★★ ★★★★☆ 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.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO LARGE-HEADED MULTIFLAGELLAR POLYPLOID SPERMATOZOA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	22941507, 26458542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26458542, 35322748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16005946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16005946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35663320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	35256641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22941507, 26458542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	16005946, 22941507, 23151147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16005946, 26458542		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	22941507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26458542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

AKAP3 (A-kinase anchoring protein 3)