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

Gene ID: 4135, updated on 3-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
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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 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)

Genotypes

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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