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Aliases for MAPKAP1 Gene

Aliases for MAPKAP1 Gene

  • Mitogen-Activated Protein Kinase Associated Protein 1 2 3 5
  • Mitogen-Activated Protein Kinase 2-Associated Protein 1 3 4
  • Stress-Activated Protein Kinase-Interacting 1 2 3
  • SAPK-Interacting Protein 1 3 4
  • TORC2 Subunit MAPKAP1 3 4
  • MSIN1 3 4
  • MIP1 3 4
  • SIN1 3 4
  • Stress-Activated Map Kinase Interacting Protein 1 3
  • Stress-Activated Map Kinase-Interacting Protein 1 4
  • Target Of Rapamycin Complex 2 Subunit MAPKAP1 3
  • MEKK2-Interacting Protein 1 3
  • Ras Inhibitor MGC2745 3
  • JC310 3
  • SIN1b 3
  • SIN1g 3

External Ids for MAPKAP1 Gene

Previous GeneCards Identifiers for MAPKAP1 Gene

  • GC09M119314
  • GC09M119846
  • GC09M121653
  • GC09M123576
  • GC09M125280
  • GC09M127239
  • GC09M128199
  • GC09M097812

Summaries for MAPKAP1 Gene

Entrez Gene Summary for MAPKAP1 Gene

  • This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAPKAP1 Gene

MAPKAP1 (Mitogen-Activated Protein Kinase Associated Protein 1) is a Protein Coding gene. Diseases associated with MAPKAP1 include Nephrogenic Systemic Fibrosis and Scleral Disease. Among its related pathways are CXCR4-mediated signaling events and RET signaling. GO annotations related to this gene include protein kinase binding and phosphatidylinositol-3,4,5-trisphosphate binding.

UniProtKB/Swiss-Prot for MAPKAP1 Gene

  • Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 Ser-473 phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on Thr-308 by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at Ser-422. mTORC2 also modulates the phosphorylation of PRKCA on Ser-657. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex.

Gene Wiki entry for MAPKAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAPKAP1 Gene

Genomics for MAPKAP1 Gene

Regulatory Elements for MAPKAP1 Gene

Enhancers for MAPKAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F125465 0.6 ENCODE 5.5 +240.2 240242 2.7 BCOR PKNOX1 RFX1 MAPKAP1 RNU5B-5P RN7SL30P
GH09F125520 1.2 Ensembl ENCODE 5.5 +182.8 182768 8.3 CTCF JUN SIN3A RAD21 ZNF664 ZNF366 POLR2A SCRT2 FOS MAFK MAPKAP1 PBX3 ARPC5L GC09P125521 LOC102723468
GH09F125643 1.8 VISTA ENCODE 5.2 +59.6 59633 7.5 HDGF PKNOX1 WRNIP1 SIN3A ZNF48 SLC30A9 CBX5 FOS ZNF263 MXD4 PBX3 MAPKAP1 RABEPK HNRNPA1P15
GH09F125540 1.2 ENCODE 4.8 +165.9 165903 0.8 FEZF1 ZNF600 PBX3 MAPKAP1 LOC102723468 LOC105376272
GH09F125470 1.1 Ensembl ENCODE 4.8 +234.6 234640 4.1 PKNOX1 ATF1 ARNT SIN3A FEZF1 GATA2 JUNB NCOA1 TSHZ1 ZNF488 MAPKAP1 RN7SL30P RNU5B-5P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MAPKAP1 on UCSC Golden Path with GeneCards custom track

Promoters for MAPKAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001314402 334 1401 PKNOX1 WRNIP1 ARID4B SIN3A ETS1 YY1 ELK1 ZNF207 KDM4B DEK

Transcription factor binding sites by QIAGEN in the MAPKAP1 gene promoter:

Genomic Location for MAPKAP1 Gene

Chromosome:
9
Start:
125,437,393 bp from pter
End:
125,707,234 bp from pter
Size:
269,842 bases
Orientation:
Minus strand

Genomic View for MAPKAP1 Gene

Genes around MAPKAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAPKAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAPKAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAPKAP1 Gene

Proteins for MAPKAP1 Gene

  • Protein details for MAPKAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BPZ7-SIN1_HUMAN
    Recommended name:
    Target of rapamycin complex 2 subunit MAPKAP1
    Protein Accession:
    Q9BPZ7
    Secondary Accessions:
    • A8K1Z5
    • B1AMA4
    • B7Z309
    • Q00426
    • Q5JSV5
    • Q5JSV6
    • Q5JSV9
    • Q658R0
    • Q699U1
    • Q699U2
    • Q699U3
    • Q699U4
    • Q6GVJ0
    • Q6GVJ1
    • Q6GVJ2

    Protein attributes for MAPKAP1 Gene

    Size:
    522 amino acids
    Molecular mass:
    59123 Da
    Quaternary structure:
    • All isoforms except isoform 4 can be incorporated into the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Contrary to mTORC1, mTORC2 does not bind to and is not sensitive to FKBP12-rapamycin. Interacts with ATF2, MAP3K2 and MAPK8. Interacts with GTP-bound HRAS and KRAS. Interacts with IFNAR2 and SGK1. Isoform 2 interacts with NBN. Isoform 1 interacts with CCDC28B.

    Three dimensional structures from OCA and Proteopedia for MAPKAP1 Gene

    Alternative splice isoforms for MAPKAP1 Gene

neXtProt entry for MAPKAP1 Gene

Post-translational modifications for MAPKAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for MAPKAP1 (Sin1/MAPKAP1)
  • Cell Signaling Technology (CST) Antibodies for MAPKAP1 (Sin1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for MAPKAP1

No data available for DME Specific Peptides for MAPKAP1 Gene

Domains & Families for MAPKAP1 Gene

Gene Families for MAPKAP1 Gene

Protein Domains for MAPKAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BPZ7

UniProtKB/Swiss-Prot:

SIN1_HUMAN :
  • Belongs to the SIN1 family.
Family:
  • Belongs to the SIN1 family.
genes like me logo Genes that share domains with MAPKAP1: view

Function for MAPKAP1 Gene

Molecular function for MAPKAP1 Gene

UniProtKB/Swiss-Prot Function:
Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 Ser-473 phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on Thr-308 by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at Ser-422. mTORC2 also modulates the phosphorylation of PRKCA on Ser-657. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex.

Gene Ontology (GO) - Molecular Function for MAPKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24365180
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 17303383
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 17303383
GO:0016301 kinase activity IEA --
GO:0017016 Ras GTPase binding IDA 17303383
genes like me logo Genes that share ontologies with MAPKAP1: view
genes like me logo Genes that share phenotypes with MAPKAP1: view

Animal Models for MAPKAP1 Gene

MGI Knock Outs for MAPKAP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MAPKAP1

miRNA for MAPKAP1 Gene

miRTarBase miRNAs that target MAPKAP1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAPKAP1 Gene

Localization for MAPKAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAPKAP1 Gene

Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAPKAP1 Gene COMPARTMENTS Subcellular localization image for MAPKAP1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for MAPKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA 17303383
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAPKAP1: view

Pathways & Interactions for MAPKAP1 Gene

genes like me logo Genes that share pathways with MAPKAP1: view

Pathways by source for MAPKAP1 Gene

Gene Ontology (GO) - Biological Process for MAPKAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0021762 substantia nigra development IEP 22926577
GO:0030950 establishment or maintenance of actin cytoskeleton polarity IBA --
GO:0031098 stress-activated protein kinase signaling cascade IBA --
GO:0031295 T cell costimulation TAS --
genes like me logo Genes that share ontologies with MAPKAP1: view

No data available for SIGNOR curated interactions for MAPKAP1 Gene

Drugs & Compounds for MAPKAP1 Gene

(4) Drugs for MAPKAP1 Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
AZD8055 Pharma inhibitor MTOR inhibitor, Kinase Inhibitors 0
MLN0128 Pharma inhibitor Kinase Inhibitors 0
OSI-027 Pharma inhibitor MTORC1/ mTORC2 inhibitor, Kinase Inhibitors 0

(2) Additional Compounds for MAPKAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MAPKAP1: view

Transcripts for MAPKAP1 Gene

Unigene Clusters for MAPKAP1 Gene

Mitogen-activated protein kinase associated protein 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAPKAP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2: - -
SP3: - - -
SP4: - - -

Relevant External Links for MAPKAP1 Gene

GeneLoc Exon Structure for
MAPKAP1
ECgene alternative splicing isoforms for
MAPKAP1

Expression for MAPKAP1 Gene

mRNA expression in normal human tissues for MAPKAP1 Gene

Protein differential expression in normal tissues from HIPED for MAPKAP1 Gene

This gene is overexpressed in Heart (24.9) and Placenta (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAPKAP1 Gene



Protein tissue co-expression partners for MAPKAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAPKAP1 Gene:

MAPKAP1

SOURCE GeneReport for Unigene cluster for MAPKAP1 Gene:

Hs.495138

mRNA Expression by UniProt/SwissProt for MAPKAP1 Gene:

Q9BPZ7-SIN1_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with MAPKAP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MAPKAP1 Gene

Orthologs for MAPKAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAPKAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAPKAP1 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia MAPKAP1 34 35
  • 95.34 (n)
cow
(Bos Taurus)
Mammalia MAPKAP1 34 35
  • 95.15 (n)
rat
(Rattus norvegicus)
Mammalia Mapkap1 34
  • 92.59 (n)
mouse
(Mus musculus)
Mammalia Mapkap1 34 16 35
  • 92.46 (n)
oppossum
(Monodelphis domestica)
Mammalia MAPKAP1 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAPKAP1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAPKAP1 34 35
  • 82.76 (n)
lizard
(Anolis carolinensis)
Reptilia MAPKAP1 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mapkap1 34
  • 76.09 (n)
Str.16707 34
African clawed frog
(Xenopus laevis)
Amphibia mapkap1-prov 34
zebrafish
(Danio rerio)
Actinopterygii mapkap1 35
  • 81 (a)
OneToOne
LOC100537196 34
  • 74.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008831 34
  • 45.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sin1 34 35
  • 44.78 (n)
worm
(Caenorhabditis elegans)
Secernentea sinh-1 35
  • 19 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1005 34
Species where no ortholog for MAPKAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAPKAP1 Gene

ENSEMBL:
Gene Tree for MAPKAP1 (if available)
TreeFam:
Gene Tree for MAPKAP1 (if available)

Paralogs for MAPKAP1 Gene

No data available for Paralogs for MAPKAP1 Gene

Variants for MAPKAP1 Gene

Sequence variations from dbSNP and Humsavar for MAPKAP1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10114882 -- 125,541,146(+) AGTCC(C/T)AACTC intron-variant
rs10114929 -- 125,490,365(+) TGAAA(A/C)CCCGT intron-variant
rs10115455 -- 125,696,571(+) aaaca(C/T)aggca intron-variant
rs10115550 -- 125,445,955(+) CAAAA(C/T)GCCCA intron-variant
rs10117090 -- 125,698,277(+) ataca(A/T)aatat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAPKAP1 Gene

Variant ID Type Subtype PubMed ID
esv1597155 CNV insertion 17803354
esv2659060 CNV deletion 23128226
esv2662785 CNV deletion 23128226
esv2665863 CNV deletion 23128226
esv3573387 CNV loss 25503493
esv3576704 CNV gain 25503493
esv3621749 CNV loss 21293372
esv3621752 CNV loss 21293372
esv3621754 CNV loss 21293372
nsv1046626 CNV gain 25217958
nsv1052626 CNV gain 25217958
nsv466560 CNV loss 19166990
nsv472759 CNV novel sequence insertion 20440878
nsv478448 CNV novel sequence insertion 20440878
nsv515979 CNV loss 19592680
nsv615293 CNV loss 21841781
nsv6714 CNV insertion 18451855
nsv825077 CNV gain 20364138
nsv831722 CNV gain 17160897
nsv972451 CNV duplication 23825009

Variation tolerance for MAPKAP1 Gene

Residual Variation Intolerance Score: 31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAPKAP1 Gene

Human Gene Mutation Database (HGMD)
MAPKAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAPKAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAPKAP1 Gene

Disorders for MAPKAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAPKAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
nephrogenic systemic fibrosis
  • nephrogenic fibrosing dermopathy
scleral disease
  • scleral diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAPKAP1

Genetic Association Database (GAD)
MAPKAP1
Human Genome Epidemiology (HuGE) Navigator
MAPKAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAPKAP1
genes like me logo Genes that share disorders with MAPKAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAPKAP1 Gene

Publications for MAPKAP1 Gene

  1. Alternative polyadenylation and splicing of mRNAs transcribed from the human Sin1 gene. (PMID: 15363842) Schroder W. … Sculley T. (Gene 2004) 2 3 4 22 64
  2. Human Sin1 contains Ras-binding and pleckstrin homology domains and suppresses Ras signalling. (PMID: 17303383) Schroder W.A. … Bushell G. (Cell. Signal. 2007) 3 4 22 64
  3. Mip1, an MEKK2-interacting protein, controls MEKK2 dimerization and activation. (PMID: 15988011) Cheng J. … Su B. (Mol. Cell. Biol. 2005) 3 4 22 64
  4. Interaction between NBS1 and the mTOR/Rictor/SIN1 complex through specific domains. (PMID: 23762398) Wang J.Q. … Wu K.J. (PLoS ONE 2013) 3 4 64
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64

Products for MAPKAP1 Gene

Sources for MAPKAP1 Gene

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