1. Gene
  2. SAV1 - salvador family WW domain containing protein 1 Gene

SAV1 - salvador family WW domain containing protein 1 Gene

Homo sapiens

Also known as SAV; WW45; WWP4

Gene ID: 60485 | Gene type: protein coding

About SAV1

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:50,633,580-50,668,306 (from NCBI)

This gene has 6 transcripts (splice variants), 210 orthologues and 6 paralogues. Ubiquitous expression in thyroid (RPKM 16.7), testis (RPKM 15.2) and 25 other tissues.

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 SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced Apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]

SAV1 Products(1)

mRNA Protein Name
NM_021818.4 NP_068590.1 protein salvador homolog 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16930133 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16930133 GOA
enables protein serine/threonine kinase activator activity IDA
IDA: Inferred from direct assay
29063833 GOA
enables transcription regulator activator activity IGI
IGI: Inferred from genetic interaction
22292086 GOA
Biological Process GO Annotation Evidence Reference Source
involved in hippo signaling IDA
IDA: Inferred from direct assay
35429439 GOA
acts upstream of or within protein stabilization IDA
IDA: Inferred from direct assay
22292086 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
35429439 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19212654 GOA
located in nucleus IDA
IDA: Inferred from direct assay
19212654 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SAV1 Protein Structure

WW

WW: WW domain (201 - 230)

  • 0
  • 100
  • 200
  • 300
  • 383 a.a.
Protein Preferred Names Protein Names

protein salvador homolog 1

1700040G09Rik

SAV1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 24255178
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188
Y2H
20920251
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 33961781
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 24255178
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 28514442
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 32296183
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 16930133
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 32296183
Intra
SAV1 Q9H4B6 STK3 Homo sapiens Q13188 24366813
Intra
SAV1 Q9H4B6 HAX1 Homo sapiens O00165 21567072
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043 16930133
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043 33961781
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043 24366813
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043 24255178
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Y2H
23386615
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043
Y2H
20920251
Intra
SAV1 Q9H4B6 STK4 Homo sapiens Q13043 24255178
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10

Neurofibromatosis, Type Ii

Neurofibromatosis 2

Neurofibromatosis, Type 2

NF2

Neurofibromatosis Type Ii

Bilateral Acoustic Neurofibromatosis

Banf

Acn

Central Neurofibromatosis

Neurofibromatosis, Central Type

Acoustic Schwannomas, Bilateral

Acoustic Neurinoma, Bilateral

Bilateral Acoustic Neurinoma

Bilateral Acoustic Schwannomas

Familial Acoustic Neuromas

Sveinsson Chorioretinal Atrophy

SCRA

Atrophia Areata

Helicoid Peripapillary Chorioretinal Degeneration

Hpcd

Aa

Peripapillary Chorioretinal Degeneration, Icelandic Type

Helicoidal Peripapillary Chorioretinal Degeneration

Atrophy, Chorioretinal, Sveinsson

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SAV1 RGD RGD:1307253
Bos taurus SAV1 VGNC VGNC:34300
Felis catus SAV1 VGNC VGNC:64882
Macaca mulatta SAV1 VGNC VGNC:77042
Mus musculus SAV1 MGD MGI:1927144
Canis familiaris SAV1 VGNC VGNC:45877
Others SAV1 NCBI