This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by Re... See more...

Aliases for MAP6D1 Gene

Aliases for MAP6D1 Gene

  • MAP6 Domain Containing 1 2 3 5
  • MAP6 Domain-Containing Protein 1 3 4
  • 21 KDa STOP-Like Protein 3 4
  • STOP-Like Protein 21 KD 2 3
  • SL21 3 4
  • MAPO6D1 3

External Ids for MAP6D1 Gene

Previous GeneCards Identifiers for MAP6D1 Gene

  • GC03M185017
  • GC03M183533
  • GC03M180943

Summaries for MAP6D1 Gene

Entrez Gene Summary for MAP6D1 Gene

  • This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]

GeneCards Summary for MAP6D1 Gene

MAP6D1 (MAP6 Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include microtubule binding and calmodulin binding. An important paralog of this gene is MAP6.

UniProtKB/Swiss-Prot Summary for MAP6D1 Gene

Additional gene information for MAP6D1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAP6D1 Gene

Genomics for MAP6D1 Gene

GeneHancer (GH) Regulatory Elements for MAP6D1 Gene

Promoters and enhancers for MAP6D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J183824 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 506.4 +0.1 53 3.1 MYC USF1 ZFX CTCF ZIC2 ZBTB26 CHD1 ZNF341 SIN3A SP2 MAP6D1 lnc-PARL-2 YEATS2-AS1 ENSG00000283765 PARL
GH03J183883 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15.2 -58.6 -58595 3.2 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC PARL ENSG00000283765 RPSAP31 lnc-PARL-1 ALG3 EIF2B5 FAM131A POLR2H ABCC5 ENSG00000228205
GH03J183822 Enhancer 0.7 FANTOM5 Ensembl dbSUPER 17.8 +2.7 2705 0.6 TEAD4 ZBTB33 HSALNG0031186 MAP6D1 YEATS2-AS1 MCF2L2 ECE2 CAMK2N2 ABCC5 lnc-PARL-2 ENSG00000283765
GH03J183876 Promoter/Enhancer 1 EPDnew ENCODE 10.3 -52.1 -52100 1.7 MYC GABPA CEBPG MAX ZNF592 SPI1 MNT HDAC2 ATF4 POLR2A PARL RF00994-710 piR-35062-003 ABCC5 MAP6D1 ALG3 ECE2 VWA5B2 MIR1224 CAMK2N2
GH03J183843 Enhancer 0.9 Ensembl ENCODE 11.3 -20.6 -20584 4.4 ZNF217 FOS CUX1 CTBP1 FOXA2 NEUROD1 JUND JUN SPI1 ZFHX2 lnc-MAP6D1-2 PARL YEATS2-AS1 YEATS2 MAP6D1 RPSAP31 CAMK2N2 KLHL24 piR-35062-003 ENSG00000283765
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAP6D1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAP6D1

Top Transcription factor binding sites by QIAGEN in the MAP6D1 gene promoter:
  • C/EBPbeta
  • CUTL1
  • E47
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • RREB-1
  • Tal-1
  • ZID

Genomic Locations for MAP6D1 Gene

Genomic Locations for MAP6D1 Gene
chr3:183,815,876-183,825,605
(GRCh38/hg38)
Size:
9,730 bases
Orientation:
Minus strand
chr3:183,533,664-183,543,393
(GRCh37/hg19)
Size:
9,730 bases
Orientation:
Minus strand

Genomic View for MAP6D1 Gene

Genes around MAP6D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP6D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP6D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP6D1 Gene

Proteins for MAP6D1 Gene

  • Protein details for MAP6D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H9H5-MA6D1_HUMAN
    Recommended name:
    MAP6 domain-containing protein 1
    Protein Accession:
    Q9H9H5

    Protein attributes for MAP6D1 Gene

    Size:
    199 amino acids
    Molecular mass:
    21005 Da
    Quaternary structure:
    • Interacts with calmodulin.

neXtProt entry for MAP6D1 Gene

Post-translational modifications for MAP6D1 Gene

  • Palmitoylated. Palmitoylation enhances association with microtubules.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAP6D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAP6D1 Gene

Domains & Families for MAP6D1 Gene

Gene Families for MAP6D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAP6D1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MAP6D1 Gene

GenScript: Design optimal peptide antigens:
  • 21 kDa STOP-like protein (MA6D1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H9H5

UniProtKB/Swiss-Prot:

MA6D1_HUMAN :
  • Belongs to the STOP family.
Family:
  • Belongs to the STOP family.
genes like me logo Genes that share domains with MAP6D1: view

Function for MAP6D1 Gene

Molecular function for MAP6D1 Gene

UniProtKB/Swiss-Prot Function:
May have microtubule-stabilizing activity.

Phenotypes From GWAS Catalog for MAP6D1 Gene

Gene Ontology (GO) - Molecular Function for MAP6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
GO:0008017 microtubule binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with MAP6D1: view
genes like me logo Genes that share phenotypes with MAP6D1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAP6D1 Gene

Localization for MAP6D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP6D1 Gene

Golgi apparatus. Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAP6D1 gene
Compartment Confidence
cytoskeleton 3
mitochondrion 3
golgi apparatus 3
nucleus 2
cytosol 2
extracellular 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAP6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005798 Golgi-associated vesicle IEA,IBA 21873635
GO:0005801 cis-Golgi network IBA,IEA 21873635
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with MAP6D1: view

Pathways & Interactions for MAP6D1 Gene

PathCards logo

SuperPathways for MAP6D1 Gene

No Data Available

Interacting Proteins for MAP6D1 Gene

;

Gene Ontology (GO) - Biological Process for MAP6D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0007026 negative regulation of microtubule depolymerization IEA --
GO:0018009 N-terminal peptidyl-L-cysteine N-palmitoylation IEA --
GO:0030705 cytoskeleton-dependent intracellular transport IBA 21873635
GO:0070507 regulation of microtubule cytoskeleton organization IBA 21873635
genes like me logo Genes that share ontologies with MAP6D1: view

No data available for Pathways by source and SIGNOR curated interactions for MAP6D1 Gene

Drugs & Compounds for MAP6D1 Gene

No Compound Related Data Available

Transcripts for MAP6D1 Gene

mRNA/cDNA for MAP6D1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP6D1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: -

Relevant External Links for MAP6D1 Gene

GeneLoc Exon Structure for
MAP6D1

Expression for MAP6D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAP6D1 Gene

mRNA differential expression in normal tissues according to GTEx for MAP6D1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x8.0), Brain - Cerebellum (x5.8), Brain - Cerebellar Hemisphere (x5.7), and Brain - Substantia nigra (x4.6).

Protein differential expression in normal tissues from HIPED for MAP6D1 Gene

This gene is overexpressed in Frontal cortex (42.4) and Brain (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAP6D1 Gene



Protein tissue co-expression partners for MAP6D1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAP6D1

SOURCE GeneReport for Unigene cluster for MAP6D1 Gene:

Hs.478465

Evidence on tissue expression from TISSUES for MAP6D1 Gene

  • Nervous system(4.2)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with MAP6D1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP6D1 Gene

Orthologs for MAP6D1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAP6D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAP6D1 31 30
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAP6D1 31 30
  • 85.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Map6d1 17 31 30
  • 82.55 (n)
rat
(Rattus norvegicus)
Mammalia Map6d1 30
  • 81.5 (n)
dog
(Canis familiaris)
Mammalia MAP6D1 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP6D1 31
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP6D1 31
  • 39 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii map6d1 31
  • 26 (a)
OneToOne
Species where no ortholog for MAP6D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAP6D1 Gene

ENSEMBL:
Gene Tree for MAP6D1 (if available)
TreeFam:
Gene Tree for MAP6D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAP6D1: view image

Paralogs for MAP6D1 Gene

Paralogs for MAP6D1 Gene

genes like me logo Genes that share paralogs with MAP6D1: view

Variants for MAP6D1 Gene

Additional dbSNP identifiers (rs#s) for MAP6D1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MAP6D1 Gene

Variant ID Type Subtype PubMed ID
dgv8757n54 CNV gain 21841781
dgv8758n54 CNV gain+loss 21841781
esv24115 CNV loss 19812545
nsv524639 CNV loss 19592680
nsv592656 CNV gain 21841781
nsv592659 CNV loss 21841781
nsv592660 CNV gain+loss 21841781
nsv592663 CNV loss 21841781
nsv592664 CNV gain 21841781

Variation tolerance for MAP6D1 Gene

Gene Damage Index Score: 1.31; 26.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAP6D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP6D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAP6D1 Gene

Disorders for MAP6D1 Gene

Additional Disease Information for MAP6D1

No disorders were found for MAP6D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAP6D1 Gene

Publications for MAP6D1 Gene

  1. Non-microtubular localizations of microtubule-associated protein 6 (MAP6). (PMID: 25526643) Gory-Fauré S … Andrieux A (PloS one 2014) 2 3 54
  2. STOP-like protein 21 is a novel member of the STOP family, revealing a Golgi localization of STOP proteins. (PMID: 16837464) Gory-Fauré S … Andrieux A (The Journal of biological chemistry 2006) 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for MAP6D1 Gene

Sources for MAP6D1 Gene