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Aliases for MAP7D1 Gene

Aliases for MAP7D1 Gene

  • MAP7 Domain Containing 1 2 3 5
  • Arginine/Proline-Rich Coiled-Coil Domain-Containing Protein 1 3 4
  • Proline/Arginine-Rich Coiled-Coil Domain-Containing Protein 1 3 4
  • Arginine/Proline Rich Coiled-Coil 1 2 3
  • Proline Arginine Rich Coiled Coil 1 2 3
  • PARCC1 3 4
  • RPRC1 3 4
  • MAP7 Domain-Containing Protein 1 3
  • KIAA1187 4

External Ids for MAP7D1 Gene

Previous HGNC Symbols for MAP7D1 Gene

  • PARCC1
  • RPRC1

Previous GeneCards Identifiers for MAP7D1 Gene

  • GC01P036395
  • GC01P036621
  • GC01P034738

Summaries for MAP7D1 Gene

GeneCards Summary for MAP7D1 Gene

MAP7D1 (MAP7 Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is MAP7.

Additional gene information for MAP7D1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP7D1 Gene

Genomics for MAP7D1 Gene

GeneHancer (GH) Regulatory Elements for MAP7D1 Gene

Promoters and enhancers for MAP7D1 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
GH01J036154 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 680.1 +1.1 1088 4.5 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 ZBTB7B POLR2B ZNF213 ZNF143 ZNF548 MAP7D1 TRAPPC3 SFPQ AGO3 ZMYM4 RPL5P4 THRAP3 COL8A2 EVA1B AGO4
GH01J036148 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29 -4.7 -4731 4.9 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 TRAPPC3 SFPQ MAP7D1 AGO3 THRAP3 COL8A2 RPL5P4 EVA1B STK40 ZMYM4
GH01J036159 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 33.6 +8.1 8119 8.8 HDGF ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 ZNF143 SP3 CSF3R MAP7D1 THRAP3 AGO4 SFPQ STK40 RPL5P4 LOC105378647 COL8A2 EVA1B
GH01J036169 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 30.7 +19.1 19068 10.1 BCOR CTCF PTBP1 USF1 JUN BACH1 SIN3A ZMYM3 BMI1 RAD21 MAP7D1 ENSG00000116883 COL8A2 ADPRHL2 TEKT2 LOC100128093 SH3D21 EVA1B RNU4-27P LSM10
GH01J036133 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.2 -19.8 -19822 4.8 HDAC1 RB1 INSM2 RAD21 ZNF335 ZNF121 ARID2 ZNF143 FOS ATF7 TRAPPC3 MAP7D1 ZMYM4 AGO3 SFPQ ADPRHL2 LOC100128093 TEKT2 LSM10 COL8A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAP7D1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAP7D1 gene promoter:
  • Lmo2
  • GATA-6
  • c-Myb
  • ARP-1
  • S8
  • MyoD
  • aMEF-2
  • MEF-2A
  • MRF-2
  • Nkx6-1

Genomic Locations for MAP7D1 Gene

Genomic Locations for MAP7D1 Gene
chr1:36,155,579-36,180,849
(GRCh38/hg38)
Size:
25,271 bases
Orientation:
Plus strand
chr1:36,621,180-36,646,450
(GRCh37/hg19)
Size:
25,271 bases
Orientation:
Plus strand

Genomic View for MAP7D1 Gene

Genes around MAP7D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP7D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP7D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP7D1 Gene

Proteins for MAP7D1 Gene

  • Protein details for MAP7D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3KQU3-MA7D1_HUMAN
    Recommended name:
    MAP7 domain-containing protein 1
    Protein Accession:
    Q3KQU3
    Secondary Accessions:
    • D3DPS4
    • Q7L8J5
    • Q8N905
    • Q8TAK0
    • Q9HBQ2
    • Q9NW29
    • Q9ULN3

    Protein attributes for MAP7D1 Gene

    Size:
    841 amino acids
    Molecular mass:
    92820 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG17244.1; Type=Frameshift; Positions=80, 207, 736; Evidence={ECO:0000305}; Sequence=BAA86501.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MAP7D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP7D1 Gene

Post-translational modifications for MAP7D1 Gene

  • Ubiquitination at isoforms=2, 4439, isoforms=4272, and isoforms=4268
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MAP7D1
  • Boster Bio Antibodies for MAP7D1

No data available for DME Specific Peptides for MAP7D1 Gene

Domains & Families for MAP7D1 Gene

Gene Families for MAP7D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MAP7D1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q3KQU3

UniProtKB/Swiss-Prot:

MA7D1_HUMAN :
  • Belongs to the MAP7 family.
Family:
  • Belongs to the MAP7 family.
genes like me logo Genes that share domains with MAP7D1: view

Function for MAP7D1 Gene

Phenotypes From GWAS Catalog for MAP7D1 Gene

Gene Ontology (GO) - Molecular Function for MAP7D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IBA --
GO:0005515 protein binding IPI 17353931
genes like me logo Genes that share ontologies with MAP7D1: view
genes like me logo Genes that share phenotypes with MAP7D1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MAP7D1 Gene

Localization for MAP7D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP7D1 Gene

Cytoplasm, cytoskeleton, spindle.

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 MAP7D1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAP7D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005819 spindle IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0015630 microtubule cytoskeleton IDA,IEA --
genes like me logo Genes that share ontologies with MAP7D1: view

Pathways & Interactions for MAP7D1 Gene

SuperPathways for MAP7D1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MAP7D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA --
genes like me logo Genes that share ontologies with MAP7D1: view

No data available for Pathways by source and SIGNOR curated interactions for MAP7D1 Gene

Drugs & Compounds for MAP7D1 Gene

No Compound Related Data Available

Transcripts for MAP7D1 Gene

Unigene Clusters for MAP7D1 Gene

MAP7 domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP7D1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: -
SP2: -
SP3:
SP4: - -
SP5: - -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for MAP7D1 Gene

GeneLoc Exon Structure for
MAP7D1
ECgene alternative splicing isoforms for
MAP7D1

Expression for MAP7D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAP7D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAP7D1 Gene

This gene is overexpressed in Bone marrow stromal cell (13.8), Peripheral blood mononuclear cells (11.7), and CD8 Tcells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MAP7D1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MAP7D1 Gene:

MAP7D1

SOURCE GeneReport for Unigene cluster for MAP7D1 Gene:

Hs.356096

Evidence on tissue expression from TISSUES for MAP7D1 Gene

  • Nervous system(4.7)
  • Heart(4.5)
  • Liver(4.2)
  • Bone(4)
  • Muscle(2.8)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with MAP7D1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP7D1 Gene

Orthologs for MAP7D1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MAP7D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAP7D1 34 33
  • 98.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAP7D1 34 33
  • 89.84 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAP7D1 34 33
  • 87.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Map7d1 16 34 33
  • 87.07 (n)
rat
(Rattus norvegicus)
Mammalia Map7d1 33
  • 86.77 (n)
oppossum
(Monodelphis domestica)
Mammalia MAP7D1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAP7D1 34 33
  • 66.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP7D1 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rprc1 33
  • 60.35 (n)
Str.10677 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15665 33
zebrafish
(Danio rerio)
Actinopterygii map7d1a 34 34
  • 47 (a)
OneToMany
map7d1b 34
  • 45 (a)
OneToMany
Dr.6204 33
Species where no ortholog for MAP7D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAP7D1 Gene

ENSEMBL:
Gene Tree for MAP7D1 (if available)
TreeFam:
Gene Tree for MAP7D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAP7D1: view image

Paralogs for MAP7D1 Gene

Paralogs for MAP7D1 Gene

(2) SIMAP similar genes for MAP7D1 Gene using alignment to 6 proteins:

  • MA7D1_HUMAN
  • A1L1B7_HUMAN
  • C9JIR3_HUMAN
  • E9PLH3_HUMAN
  • H0YF21_HUMAN
  • Q6NX58_HUMAN
genes like me logo Genes that share paralogs with MAP7D1: view

Variants for MAP7D1 Gene

Sequence variations from dbSNP and Humsavar for MAP7D1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000002845 -- 36,170,627(+) G/T intron_variant
rs1000081836 -- 36,158,613(+) C/A intron_variant
rs1000167327 -- 36,159,891(+) T/C intron_variant
rs1000190762 -- 36,176,090(+) T/C intron_variant
rs1000597378 -- 36,179,638(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAP7D1 Gene

Variant ID Type Subtype PubMed ID
esv2671242 CNV deletion 23128226
esv2671893 CNV deletion 23128226
esv2746819 CNV deletion 23290073
esv2758931 CNV loss 17122850
esv3585730 CNV loss 21293372
nsv545992 CNV loss 21841781
nsv545993 CNV loss 21841781
nsv545994 CNV loss 21841781
nsv545995 CNV loss 21841781
nsv545996 CNV gain 21841781
nsv834691 CNV loss 17160897

Variation tolerance for MAP7D1 Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.84; 79.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAP7D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAP7D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP7D1 Gene

Disorders for MAP7D1 Gene

Additional Disease Information for MAP7D1

No disorders were found for MAP7D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAP7D1 Gene

Publications for MAP7D1 Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for MAP7D1 Gene

Sources for MAP7D1 Gene

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