MAPKAP1 MAPK associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAPKAP1provided by HGNC
Official Full Name: MAPK associated protein 1provided by HGNC
Primary source: HGNC:HGNC:18752
See related: Ensembl:ENSG00000119487 MIM:610558; AllianceGenome:HGNC:18752
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MIP1; SIN1; JC310; SIN1b; SIN1g
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 18.8), testis (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q33.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (125437394..125707208, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (137636609..137907172, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (128199673..128469487, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unmasking the tumourigenic role of SIN1/MAPKAP1 in the mTOR complex 2.
Title: Unmasking the tumourigenic role of SIN1/MAPKAP1 in the mTOR complex 2.
Interactions between mTORC2 core subunits Rictor and mSin1 dictate selective and context-dependent phosphorylation of substrate kinases SGK1 and Akt.
Title: Interactions between mTORC2 core subunits Rictor and mSin1 dictate selective and context-dependent phosphorylation of substrate kinases SGK1 and Akt.
RAS interaction with Sin1 is dispensable for mTORC2 assembly and activity.
Title: RAS interaction with Sin1 is dispensable for mTORC2 assembly and activity.
G-Protein-Coupled Estrogen Receptor 1 Promotes Gender Disparities in Hepatocellular Carcinoma via Modulation of SIN1 and mTOR Complex 2 Activity.
Title: G-Protein-Coupled Estrogen Receptor 1 Promotes Gender Disparities in Hepatocellular Carcinoma via Modulation of SIN1 and mTOR Complex 2 Activity.
Genetic Predisposition to Glioma Mediated by a MAPKAP1 Enhancer Variant.
Title: Genetic Predisposition to Glioma Mediated by a MAPKAP1 Enhancer Variant.
Sin1 promotes proliferation and invasion of prostate cancer cells by modulating mTORC2-AKT and androgen receptor signaling cascades.
Title: Sin1 promotes proliferation and invasion of prostate cancer cells by modulating mTORC2-AKT and AR signaling cascades.
Sin1 is an amplifier of platelet alphaIIbbeta3-mediated outsidein signaling and a susceptible sensor of hypoxia/ROS signaling in ischemic environments after myocardial infarction, inducing microthrombosis.
Title: Sin1 (Stress-Activated Protein Kinase-Interacting Protein) Regulates Ischemia-Induced Microthrombosis Through Integrin αIIbβ3-Mediated Outside-In Signaling and Hypoxia Responses in Platelets.
Lysophosphatidic acids tabilizes mSin1 protein expression via JNK signaling by blocking its proteasomal degradation and identify the LPA/JNK/mSin1/mTORC/collagen I pathway as critical for fibrotic activation of mesenchymal cells.
Title: c-Jun N-terminal kinase (JNK)-mediated induction of mSin1 expression and mTORC2 activation in mesenchymal cells during fibrosis.
SIN1 interacted and co-located with PKC zeta by pleckstrin homology (PH) domain. Downregulation of SIN1 severely impaired PKC zeta translocation and phosphorylation induced by insulin.
Title: The Effect of SIN1 and Microtubules on Insulin Induced PKC ζ Activation.
SIN1 plays an important role in breast cancer.
Title: SIN1 promotes the proliferation and migration of breast cancer cells by Akt activation.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-133110 (e-PCR)
- UniSTS:184878

SHGC-142173 (e-PCR)
- UniSTS:184887

SHGC-142548 (e-PCR)
- UniSTS:184891

RH41772 (e-PCR)
- UniSTS:17221

D9S1113 (e-PCR)
- UniSTS:52908

STS-H61698 (e-PCR)
- UniSTS:41139

SHGC-79850 (e-PCR)
- UniSTS:185016

D9S1925 (e-PCR)
- UniSTS:54466

WI-18185 (e-PCR)
- UniSTS:40902

WI-14903 (e-PCR)
- UniSTS:83420

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in TORC2 signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to nutrient levels	NAS Non-traceable Author Statement more info	PubMed
involved_in cytoskeleton organization	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of Ras protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell growth	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
part_of TORC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TORC2 complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: target of rapamycin complex 2 subunit MAPKAP1

Names: MEKK2-interacting protein 1; SAPK-interacting protein 1; TORC2 subunit MAPKAP1; mSIN1; mitogen-activated protein kinase 2-associated protein 1; mitogen-activated protein kinase associated protein 1; ras inhibitor MGC2745; stress-activated map kinase interacting protein 1; stress-activated protein kinase-interacting 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001006617.3 → NP_001006618.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 1

See identical proteins and their annotated locations for NP_001006618.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as Sin1 and Mip1b, represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL162584, AL358074, AL359632

Consensus CDS

CCDS35140.1

UniProtKB/Swiss-Prot

A8K1Z5, B1AMA4, B7Z309, Q00426, Q5JSV5, Q5JSV6, Q5JSV9, Q658R0, Q699U1, Q699U2, Q699U3, Q699U4, Q6GVJ0, Q6GVJ1, Q6GVJ2, Q9BPZ7

Related

ENSP00000265960.3, ENST00000265960.8

Conserved Domains (3) summary

cd13331
Location:383 → 490

PH_Avo1; Avo1 Pleckstrin homology (PH) domain

pfam05422
Location:18 → 129

SIN1; Stress-activated map kinase interacting protein 1 (SIN1)

pfam16978
Location:140 → 266

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain
NM_001006618.2 → NP_001006619.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 5

See identical proteins and their annotated locations for NP_001006619.1

Status: REVIEWED

Description

Transcript Variant: This variant (6), also known as Sin1a, differs in the 3' coding region and UTR, compared to variant 1. The resulting protein (isoform 5), also known as the alpha isoform, has a shorter and distinct C-terminus, compared to isoform 1. The existence of this isoform has not been confirmed experimentally.

Source sequence(s)

AY524429, AY524430

Consensus CDS

CCDS48020.1

UniProtKB/Swiss-Prot

Q9BPZ7

Related

ENSP00000377624.3, ENST00000394060.7

Conserved Domains (2) summary

pfam05422
Location:18 → 129

SIN1; Stress-activated map kinase interacting protein 1 (SIN1)

pfam16978
Location:140 → 266

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain
NM_001006619.2 → NP_001006620.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 3

See identical proteins and their annotated locations for NP_001006620.1

Status: REVIEWED

Description

Transcript Variant: This variant (3), also known as Sin1g, lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 3), also known as the gamma isoform, is shorter, compared to isoform 1.

Source sequence(s)

AL162584, AL358074, AL359632

Consensus CDS

CCDS35139.1

UniProtKB/Swiss-Prot

Q9BPZ7

Related

ENSP00000362610.2, ENST00000373511.6

Conserved Domains (3) summary

cd13331
Location:353 → 443

PH_Avo1; Avo1 Pleckstrin homology (PH) domain

pfam05422
Location:18 → 129

SIN1; Stress-activated map kinase interacting protein 1 (SIN1)

pfam16978
Location:140 → 266

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain
NM_001006620.2 → NP_001006621.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 4

See identical proteins and their annotated locations for NP_001006621.1

Status: REVIEWED

Description

Transcript Variant: This variant (4), also known as Sin1d, lacks an alternate in-frame exon in the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 4), also known as the delta isoform, has a shorter N-terminus, compared to isoform 1. The existence of this isoform has not been confirmed experimentally. Variants 4 and 5 encode the same isoform (4).

Source sequence(s)

AL162584, AL358074, AL359632

Consensus CDS

CCDS35141.1

UniProtKB/Swiss-Prot

Q9BPZ7

Related

ENSP00000362602.3, ENST00000373503.7

Conserved Domains (2) summary

cd13331
Location:191 → 298

PH_Avo1; Avo1 Pleckstrin homology (PH) domain

pfam16978
Location:1 → 74

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain
NM_001006621.2 → NP_001006622.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 4

See identical proteins and their annotated locations for NP_001006622.1

Status: REVIEWED

Description

Transcript Variant: This variant (5), also known as Sin1e, lacks two alternate in-frame exons in the 5' coding region, and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 4), also known as the delta isoform, has a shorter N-terminus, compared to isoform 1. The existence of this isoform has not been confirmed experimentally. Variants 4 and 5 encode the same isoform (4).

Source sequence(s)

AL162584, AL358074, AL359632

Consensus CDS

CCDS35141.1

UniProtKB/Swiss-Prot

Q9BPZ7

Related

ENSP00000377627.1, ENST00000394063.5

Conserved Domains (2) summary

cd13331
Location:191 → 298

PH_Avo1; Avo1 Pleckstrin homology (PH) domain

pfam16978
Location:1 → 74

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain
NM_024117.4 → NP_077022.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 2

See identical proteins and their annotated locations for NP_077022.1

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as Sin1b and Mip1a, lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2), also known as the beta isoform, is shorter, compared to isoform 1.

Source sequence(s)

AL162584, AL358074, AL359632

Consensus CDS

CCDS6864.1

Related

ENSP00000265961.5, ENST00000350766.7

Conserved Domains (3) summary

cd13331
Location:347 → 454

PH_Avo1; Avo1 Pleckstrin homology (PH) domain

pfam05422
Location:18 → 129

SIN1; Stress-activated map kinase interacting protein 1 (SIN1)

pfam16978
Location:140 → 266

CRIM; SAPK-interacting protein 1 (Sin1), middle CRIM domain