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    MAP6 microtubule associated protein 6 [ Homo sapiens (human) ]

    Gene ID: 4135, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MAP6provided by HGNC
    Official Full Name
    microtubule associated protein 6provided by HGNC
    Primary source
    HGNC:HGNC:6868
    See related
    Ensembl:ENSG00000171533 MIM:601783; AllianceGenome:HGNC:6868
    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
    STOP; MTAP6; MAP6-N; N-STOP
    Summary
    This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 4.6), testis (RPKM 2.8) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAP6 in Genome Data Viewer
    Location:
    11q13.5
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (75586918..75669038, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (75516323..75598423, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (75297963..75380083, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glycerophosphodiester phosphodiesterase domain containing 5 Neighboring gene uncharacterized LOC105369389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75236337-75236837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3767 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75242693-75243509 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4348 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75248027-75248527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75254283-75254784 Neighboring gene VISTA enhancer hs1748 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4355 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4356 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75272978-75273517 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75273518-75274058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:75274059-75274597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75276989-75277604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75277605-75278219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:75279454-75279954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:75287552-75288052 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:75289175-75289343 Neighboring gene serpin family H member 1 Neighboring gene uncharacterized LOC105369391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:75295275-75295854 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5274 Neighboring gene uncharacterized LOC105369392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3773 Neighboring gene monoacylglycerol O-acyltransferase 2 Neighboring gene RNA, 7SL, cytoplasmic 786, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Stable tubule only polypeptides (STOP) proteins co-aggregate with spheroid neurofilaments in amyotrophic lateral sclerosis. Letournel F, et al. J Neuropathol Exp Neurol, 2003 Dec. PMID 14692697
    2. SPOP Mutations as a Predictive Biomarker for Androgen Receptor Axis-Targeted Therapy in De Novo Metastatic Castration-Sensitive Prostate Cancer. Swami U, et al. Clin Cancer Res, 2022 Nov 14. PMID 36088616
    3. Assignment of the STOP gene (MAP6) to human chromosome bands 6p12-->p11 by fluorescence in situ hybridization. Jolly C, et al. Cytogenet Cell Genet, 1999. PMID 10516426
    4. Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia. Shimizu H, et al. Schizophr Res, 2006 Jun. PMID 16624526
    5. Reduced plasma levels of microtubule-associated STOP/MAP6 protein in autistic patients. Wei H, et al. Psychiatry Res, 2016 Nov 30. PMID 27541346

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SPOP Mutations as a Predictive Biomarker for Androgen Receptor Axis-Targeted Therapy in De Novo Metastatic Castration-Sensitive Prostate Cancer.
      Title: SPOP Mutations as a Predictive Biomarker for Androgen Receptor Axis-Targeted Therapy in De Novo Metastatic Castration-Sensitive Prostate Cancer.
    2. the concentration of STOP/MAP6 protein was significantly reduced in the plasma of autistic subjects than that in healthy controls.
      Title: Reduced plasma levels of microtubule-associated STOP/MAP6 protein in autistic patients.
    3. These data show that TMEM106B/MAP6 interaction is crucial for controlling dendritic trafficking of lysosomes, presumably by acting as a molecular brake for retrograde transport.
      Title: The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes.
    4. Structural basis for the association of MAP6 protein with microtubules and its regulation by calmodulin.
      Title: Structural basis for the association of MAP6 protein with microtubules and its regulation by calmodulin.
    5. MAP6 might serve as a temperature sensor adapting its conformation according to the temperature to maintain the cellular microtubule network in organisms exposed to temperature decrease.
      Title: MAP6-F is a temperature sensor that directly binds to and protects microtubules from cold-induced depolymerization.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
      Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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

    Homology

    Clone Names

    • FLJ41346, KIAA1878

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi-associated vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    microtubule-associated protein 6
    Names
    CTD-2530H12.7
    MAP-6
    stable tubule-only polypeptide

    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.

    Genomic

    1. NG_052841.1 RefSeqGene

      Range
      7071..89191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033063.2 → NP_149052.1  microtubule-associated protein 6 isoform 1

      See identical proteins and their annotated locations for NP_149052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AB058781, AK123340, AP001922, BC063860
      Consensus CDS
      CCDS31641.1
      UniProtKB/Swiss-Prot
      A7E2A1, Q6P3T0, Q6ZWB8, Q96JE9
      Related
      ENSP00000307093.3, ENST00000304771.8
      Conserved Domains (1) summary
      pfam05217
      Location:298 → 406
      STOP; STOP protein

    2. NM_207577.1 → NP_997460.1  microtubule-associated protein 6 isoform 2

      See identical proteins and their annotated locations for NP_997460.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a different 3' coding region compared to variant 1. The resulting isoform (2) contains a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB058781, BC041411, BC063860
      Consensus CDS
      CCDS44686.1
      UniProtKB/Swiss-Prot
      Q96JE9
      Related
      ENSP00000415108.2, ENST00000434603.2
      Conserved Domains (1) summary
      pfam05217
      Location:298 → 406
      STOP; STOP protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      75586918..75669038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017755.3 → XP_016873244.1  microtubule-associated protein 6 isoform X1

    2. XM_017017756.2 → XP_016873245.1  microtubule-associated protein 6 isoform X2

    3. XM_017017758.2 → XP_016873247.1  microtubule-associated protein 6 isoform X3

      Related
      ENSP00000434278.1, ENST00000526740.3

    4. XM_006718556.5 → XP_006718619.1  microtubule-associated protein 6 isoform X5

      Conserved Domains (1) summary
      pfam05217
      Location:298 → 354
      STOP; STOP protein

    5. XM_011545039.4 → XP_011543341.1  microtubule-associated protein 6 isoform X4

      Conserved Domains (1) summary
      pfam05217
      Location:298 → 354
      STOP; STOP protein

    RNA

    1. XR_949933.4 RNA Sequence

    2. XR_949932.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      75516323..75598423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368815.1 → XP_054224790.1  microtubule-associated protein 6 isoform X1

    2. XM_054368816.1 → XP_054224791.1  microtubule-associated protein 6 isoform X2

    3. XM_054368817.1 → XP_054224792.1  microtubule-associated protein 6 isoform X3

    4. XM_054368819.1 → XP_054224794.1  microtubule-associated protein 6 isoform X5

    5. XM_054368818.1 → XP_054224793.1  microtubule-associated protein 6 isoform X4

    RNA

    1. XR_008488398.1 RNA Sequence

    2. XR_008488397.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JE9.2 GenPept UniProtKB/Swiss-Prot:Q96JE9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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