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  2. MAPKAP1 - MAPK associated protein 1 Gene

MAPKAP1 - MAPK associated protein 1 Gene

Homo sapiens

Also known as MIP1; SIN1; JC310; SIN1b; SIN1g

Gene ID: 79109 | Gene type: protein coding

About MAPKAP1

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:125,437,394-125,707,208 (from NCBI)

This gene has 20 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in thyroid (RPKM 18.8), testis (RPKM 17.4) and 25 other tissues.

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]

MAPKAP1 Products(6)

mRNA Protein Name
NM_001006617.3 NP_001006618.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 1
NM_001006618.2 NP_001006619.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 5
NM_001006619.2 NP_001006620.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 3
NM_001006620.2 NP_001006621.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 4
NM_001006621.2 NP_001006622.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 4
NM_024117.4 NP_077022.1 target of rapamycin complex 2 subunit MAPKAP1 isoform 2

MAPKAP1 Protein Structure

SIN1

SIN1: Stress-activated map kinase interacting protein 1 (SIN1) (18 - 481)

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  • 522 a.a.
Protein Preferred Names Protein Names

target of rapamycin complex 2 subunit MAPKAP1

MEKK2-interacting protein 1

Related Diseases

Diseases Alias
Short Syndrome

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

Aarskog-Ose-Pande Syndrome

Lipodystrophy, Partial, With Rieger Anomaly And Short Stature

Lipodystrophy-Rieger Anomaly-Diabetes Syndrome

Rieger Anomaly-Partial Lipodystrophy Syndrome

Partial Lipodystrophy With Rieger Anomaly And Short Stature

Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay

Growth Retardation-Rieger Anomaly

Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay

SHORTS

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome

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
Mus musculus MAPKAP1 MGD MGI:2444554
Felis catus MAPKAP1 VGNC VGNC:63382
Bos taurus MAPKAP1 VGNC VGNC:31228
Rattus norvegicus MAPKAP1 RGD RGD:1305363
Macaca mulatta MAPKAP1 VGNC VGNC:74531
Canis familiaris MAPKAP1 VGNC VGNC:43005