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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	60485
Gene name	Salvador family WW domain containing protein 1
Gene symbol	SAV1
Synonyms (NCBI Gene)	SAVWW45WWP4
Chromosome	14
Chromosome location	14q22.1
Summary	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a

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miRTarBase ID	miRNA	Experiments	Reference
MIRT027094	hsa-miR-103a-3p	Sequencing	20371350
MIRT031649	hsa-miR-16-5p	Sequencing	20371350
MIRT041707	hsa-miR-484	CLASH	23622248
MIRT517609	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT517608	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT517607	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517605	hsa-miR-4698	PAR-CLIP	23446348
MIRT517606	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT517604	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517603	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517602	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT517601	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT517600	hsa-miR-5095	PAR-CLIP	23446348
MIRT517599	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517598	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517597	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT517609	hsa-miR-4700-3p	PAR-CLIP	23446348
MIRT517608	hsa-miR-4433b-3p	PAR-CLIP	23446348
MIRT517607	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT517605	hsa-miR-4698	PAR-CLIP	23446348
MIRT517606	hsa-miR-4433a-3p	PAR-CLIP	23446348
MIRT517604	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT517603	hsa-miR-6506-5p	PAR-CLIP	23446348
MIRT517602	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT517601	hsa-miR-5589-5p	PAR-CLIP	23446348
MIRT517600	hsa-miR-5095	PAR-CLIP	23446348
MIRT517599	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT517598	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT517597	hsa-miR-5089-5p	PAR-CLIP	23446348
MIRT1326640	hsa-miR-103a	CLIP-seq
MIRT1326641	hsa-miR-105	CLIP-seq
MIRT1326642	hsa-miR-107	CLIP-seq
MIRT1326643	hsa-miR-1244	CLIP-seq
MIRT1326644	hsa-miR-1299	CLIP-seq
MIRT1326645	hsa-miR-15a	CLIP-seq
MIRT1326646	hsa-miR-15b	CLIP-seq
MIRT1326647	hsa-miR-16	CLIP-seq
MIRT1326648	hsa-miR-194	CLIP-seq
MIRT1326649	hsa-miR-195	CLIP-seq
MIRT1326650	hsa-miR-3064-5p	CLIP-seq
MIRT1326651	hsa-miR-3120-3p	CLIP-seq
MIRT1326652	hsa-miR-3149	CLIP-seq
MIRT1326653	hsa-miR-3192	CLIP-seq
MIRT1326654	hsa-miR-3647-3p	CLIP-seq
MIRT1326655	hsa-miR-3692	CLIP-seq
MIRT1326656	hsa-miR-424	CLIP-seq
MIRT1326657	hsa-miR-4310	CLIP-seq
MIRT1326658	hsa-miR-4477a	CLIP-seq
MIRT1326659	hsa-miR-4495	CLIP-seq
MIRT1326660	hsa-miR-450b-5p	CLIP-seq
MIRT1326661	hsa-miR-4666-5p	CLIP-seq
MIRT1326662	hsa-miR-4680-5p	CLIP-seq
MIRT1326663	hsa-miR-4699-3p	CLIP-seq
MIRT1326664	hsa-miR-4729	CLIP-seq
MIRT1326665	hsa-miR-4766-3p	CLIP-seq
MIRT1326666	hsa-miR-4778-5p	CLIP-seq
MIRT1326667	hsa-miR-4782-5p	CLIP-seq
MIRT1326668	hsa-miR-497	CLIP-seq
MIRT1326669	hsa-miR-516b	CLIP-seq
MIRT1326670	hsa-miR-548l	CLIP-seq
MIRT1326671	hsa-miR-548n	CLIP-seq
MIRT1326672	hsa-miR-548t	CLIP-seq
MIRT1326673	hsa-miR-561	CLIP-seq
MIRT1326674	hsa-miR-582-3p	CLIP-seq
MIRT1326675	hsa-miR-590-3p	CLIP-seq
MIRT1326676	hsa-miR-617	CLIP-seq
MIRT1326677	hsa-miR-626	CLIP-seq
MIRT1326678	hsa-miR-630	CLIP-seq
MIRT1326679	hsa-miR-7	CLIP-seq
MIRT1326680	hsa-miR-802	CLIP-seq
MIRT1326681	hsa-miR-873	CLIP-seq
MIRT1326682	hsa-miR-875-3p	CLIP-seq
MIRT1326683	hsa-miR-891b	CLIP-seq
MIRT1326684	hsa-miR-892b	CLIP-seq
MIRT1326685	hsa-miR-944	CLIP-seq
MIRT1326641	hsa-miR-105	CLIP-seq
MIRT1326651	hsa-miR-3120-3p	CLIP-seq
MIRT2096999	hsa-miR-410	CLIP-seq
MIRT1326660	hsa-miR-450b-5p	CLIP-seq
MIRT1326685	hsa-miR-944	CLIP-seq
MIRT2321322	hsa-miR-1266	CLIP-seq
MIRT2321323	hsa-miR-1273d	CLIP-seq
MIRT2321324	hsa-miR-129-5p	CLIP-seq
MIRT1326644	hsa-miR-1299	CLIP-seq
MIRT2321325	hsa-miR-1305	CLIP-seq
MIRT2321326	hsa-miR-130a	CLIP-seq
MIRT2321327	hsa-miR-130b	CLIP-seq
MIRT2321328	hsa-miR-148a	CLIP-seq
MIRT2321329	hsa-miR-148b	CLIP-seq
MIRT2321330	hsa-miR-150	CLIP-seq
MIRT2321331	hsa-miR-152	CLIP-seq
MIRT2321332	hsa-miR-21	CLIP-seq
MIRT2321333	hsa-miR-2681	CLIP-seq
MIRT2321334	hsa-miR-301a	CLIP-seq
MIRT2321335	hsa-miR-301b	CLIP-seq
MIRT2321336	hsa-miR-3130-5p	CLIP-seq
MIRT1326652	hsa-miR-3149	CLIP-seq
MIRT2321337	hsa-miR-3155	CLIP-seq
MIRT2321338	hsa-miR-3155b	CLIP-seq
MIRT1326653	hsa-miR-3192	CLIP-seq
MIRT2321339	hsa-miR-3199	CLIP-seq
MIRT2321340	hsa-miR-323b-3p	CLIP-seq
MIRT2321341	hsa-miR-329	CLIP-seq
MIRT2321342	hsa-miR-362-3p	CLIP-seq
MIRT2321343	hsa-miR-3664-3p	CLIP-seq
MIRT2321344	hsa-miR-3666	CLIP-seq
MIRT2096999	hsa-miR-410	CLIP-seq
MIRT2321345	hsa-miR-4272	CLIP-seq
MIRT2321346	hsa-miR-4295	CLIP-seq
MIRT2321347	hsa-miR-4438	CLIP-seq
MIRT2321348	hsa-miR-4482	CLIP-seq
MIRT1326660	hsa-miR-450b-5p	CLIP-seq
MIRT2321349	hsa-miR-4518	CLIP-seq
MIRT2321350	hsa-miR-454	CLIP-seq
MIRT2321351	hsa-miR-4659a-3p	CLIP-seq
MIRT2321352	hsa-miR-4659b-3p	CLIP-seq
MIRT1326663	hsa-miR-4699-3p	CLIP-seq
MIRT2321353	hsa-miR-4735-5p	CLIP-seq
MIRT2321354	hsa-miR-4775	CLIP-seq
MIRT1326666	hsa-miR-4778-5p	CLIP-seq
MIRT1326667	hsa-miR-4782-5p	CLIP-seq
MIRT2321355	hsa-miR-4804-3p	CLIP-seq
MIRT2321356	hsa-miR-487a	CLIP-seq
MIRT2321357	hsa-miR-499-3p	CLIP-seq
MIRT2321358	hsa-miR-499a-3p	CLIP-seq
MIRT1326669	hsa-miR-516b	CLIP-seq
MIRT1326670	hsa-miR-548l	CLIP-seq
MIRT1326671	hsa-miR-548n	CLIP-seq
MIRT1326672	hsa-miR-548t	CLIP-seq
MIRT1326674	hsa-miR-582-3p	CLIP-seq
MIRT1326675	hsa-miR-590-3p	CLIP-seq
MIRT2321359	hsa-miR-590-5p	CLIP-seq
MIRT2321360	hsa-miR-616	CLIP-seq
MIRT1326676	hsa-miR-617	CLIP-seq
MIRT2321361	hsa-miR-622	CLIP-seq
MIRT1326678	hsa-miR-630	CLIP-seq
MIRT1326679	hsa-miR-7	CLIP-seq
MIRT2321362	hsa-miR-760	CLIP-seq
MIRT1326682	hsa-miR-875-3p	CLIP-seq
MIRT2321363	hsa-miR-935	CLIP-seq
MIRT2321364	hsa-miR-941	CLIP-seq
MIRT2458852	hsa-miR-1200	CLIP-seq
MIRT2458853	hsa-miR-3140-5p	CLIP-seq
MIRT2458854	hsa-miR-4747-3p	CLIP-seq
MIRT2458855	hsa-miR-4766-5p	CLIP-seq
MIRT2458856	hsa-miR-513a-3p	CLIP-seq
MIRT2458857	hsa-miR-548c-3p	CLIP-seq
MIRT2321322	hsa-miR-1266	CLIP-seq
MIRT2321324	hsa-miR-129-5p	CLIP-seq
MIRT2617590	hsa-miR-149	CLIP-seq
MIRT2617591	hsa-miR-1587	CLIP-seq
MIRT1326650	hsa-miR-3064-5p	CLIP-seq
MIRT1326652	hsa-miR-3149	CLIP-seq
MIRT2321337	hsa-miR-3155	CLIP-seq
MIRT2321338	hsa-miR-3155b	CLIP-seq
MIRT2321343	hsa-miR-3664-3p	CLIP-seq
MIRT2617592	hsa-miR-4256	CLIP-seq
MIRT2617593	hsa-miR-4437	CLIP-seq
MIRT2321349	hsa-miR-4518	CLIP-seq
MIRT2617594	hsa-miR-4674	CLIP-seq
MIRT2617595	hsa-miR-4725-5p	CLIP-seq
MIRT2321353	hsa-miR-4735-5p	CLIP-seq
MIRT2617596	hsa-miR-4772-3p	CLIP-seq
MIRT2321354	hsa-miR-4775	CLIP-seq
MIRT2617597	hsa-miR-4794	CLIP-seq
MIRT2321356	hsa-miR-487a	CLIP-seq
MIRT2617598	hsa-miR-504	CLIP-seq
MIRT1326675	hsa-miR-590-3p	CLIP-seq
MIRT2617599	hsa-miR-624	CLIP-seq
MIRT2617600	hsa-miR-635	CLIP-seq
MIRT2321362	hsa-miR-760	CLIP-seq
MIRT2321364	hsa-miR-941	CLIP-seq
MIRT2321324	hsa-miR-129-5p	CLIP-seq
MIRT2617591	hsa-miR-1587	CLIP-seq
MIRT1326652	hsa-miR-3149	CLIP-seq
MIRT2617593	hsa-miR-4437	CLIP-seq
MIRT2617594	hsa-miR-4674	CLIP-seq
MIRT2617595	hsa-miR-4725-5p	CLIP-seq
MIRT2321353	hsa-miR-4735-5p	CLIP-seq
MIRT2617596	hsa-miR-4772-3p	CLIP-seq
MIRT2321354	hsa-miR-4775	CLIP-seq
MIRT2321356	hsa-miR-487a	CLIP-seq
MIRT2617598	hsa-miR-504	CLIP-seq
MIRT1326675	hsa-miR-590-3p	CLIP-seq
MIRT2617600	hsa-miR-635	CLIP-seq
MIRT2321364	hsa-miR-941	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0005515	Function	Protein binding	IPI	16930133, 17517604, 20303269, 20562859, 20920251, 21567072, 21988832, 22570112, 23386615, 23455922, 24255178, 24366813, 24981860, 28087714, 28514442, 29063833, 32296183, 32707033, 33961781
GO:0005634	Component	Nucleus	IDA	19212654
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	35429439
GO:0005737	Component	Cytoplasm	IDA	19212654
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0035329	Process	Hippo signaling	IBA
GO:0035329	Process	Hippo signaling	IDA	15688006, 18328708, 35429439
GO:0035329	Process	Hippo signaling	IDA	35429439
GO:0035329	Process	Hippo signaling	IEA
GO:0035329	Process	Hippo signaling	ISS
GO:0035331	Process	Negative regulation of hippo signaling	IDA	29063833
GO:0035332	Process	Positive regulation of hippo signaling	IDA	11118213
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16930133, 17517604
GO:0043065	Process	Positive regulation of apoptotic process	IBA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	29063833, 35429439
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0046620	Process	Regulation of organ growth	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050821	Process	Protein stabilization	IDA	22292086
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0060575	Process	Intestinal epithelial cell differentiation	IEA
GO:0097283	Process	Keratinocyte apoptotic process	IEA
GO:0140537	Function	Transcription regulator activator activity	IGI	22292086
GO:1902174	Process	Positive regulation of keratinocyte apoptotic process	IEA
GO:2000036	Process	Regulation of stem cell population maintenance	IEA

MIM	HGNC	e!Ensembl
607203	17795	ENSG00000151748

Q9H4B6

Protein name

Protein salvador homolog 1 (45 kDa WW domain protein) (hWW45)

Protein function

Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis (PubMed:29063833). The core of this pathway is compos

PDB

6AO5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	201 → 230	WW domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in adult tissues with highest expression in the pancreas, aorta and interventricular septum and lowest expression in skeletal muscle. Expression was higher in fetal than in the adult heart. Expressed in various c

Sequence

MLSRKKTKNEVSKPAEVQGKYVKKETSPLLRNLMPSFIRHGPTIPRRTDICLPDSSPNAF
STSGDVVSRNQSFLRTPIQRTPHEIMRRESNRLSAPSYLARSLADVPREYGSSQSFVTEV
SFAVENGDSGSRYYYSDNFFDGQRKRPLGDRAHEDYRYYEYNHDLFQRMPQNQGRHASGI
GRVAATSLGNLTNHGSEDLPLPPGWSVDWTMRGRKYYIDHNTNTTHWSHPLEREGLPPGW
ERVESSEFGTYYVDHTNKKAQYRHPCAPSVPRYDQPPPVTYQPQQTERNQSLLVPANPYH
TAEIPDWLQVYARAPVKYDHILKWELFQLADLDTYQGMLKLLFMKELEQIVKMYEAYRQA
LLTELENRKQRQQWYAQQHGKNF

Sequence length

383

Interactions

View interactions

	KEGG		Reactome
	Hippo signaling pathway Hippo signaling pathway - multiple species		Signaling by Hippo

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 (2)

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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26193883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30582455		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28968962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34930307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20920251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	32439835	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27661123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22185343	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	23295441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28618450, 28938537, 30681889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20063376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22185343, 28938586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	27609427	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	Pubtator	27609427, 33323325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26241672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26241672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30327349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32439835, 35864957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37033161	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	22286761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29400692, 29699606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27661123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28968962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12969014, 26241672, 28618450, 28968962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25902174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35414790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22086157, 28968962, 30681889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	25902174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29400692, 29699606, 30327349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28968962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	28949966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28968962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28938586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37033161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervicitis	Uterine Cervicitis	BEFREE	22086157		★★★★★ ★☆☆☆☆ Found in Text Mining only

SAV1 (salvador family WW domain containing protein 1)