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    MAP7D1 MAP7 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55700, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MAP7D1provided by HGNC
    Official Full Name
    MAP7 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25514
    See related
    Ensembl:ENSG00000116871 AllianceGenome:HGNC:25514
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPRC1; PARCC1
    Summary
    Predicted to be involved in microtubule cytoskeleton organization. Predicted to be located in cytoplasm and spindle. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in fat (RPKM 43.2), brain (RPKM 39.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAP7D1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36156160..36180849)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36019039..36043724)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36621761..36646450)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36563075-36563583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 654 Neighboring gene collagen type VIII alpha 2 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36579590-36580530 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36580531-36581471 Neighboring gene MPRA-validated peak176 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36614757-36615417 Neighboring gene trafficking protein particle complex subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36625977-36626754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 746 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:36638149-36639348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36643121-36643768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36643769-36644414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36644415-36645060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36653458-36654156 Neighboring gene RNA, 7SL, cytoplasmic 131, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36680691-36680811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689434-36689961 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36689962-36690490 Neighboring gene thyroid hormone receptor associated protein 3 Neighboring gene ubiquitin conjugating enzyme E2 V2 pseudogene 4

    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. Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer. Wu SL, et al. Genomics Proteomics Bioinformatics, 2021 Feb. PMID 33716151, Free PMC Article
    2. MAP7 family proteins regulate kinesin-1 recruitment and activation. Hooikaas PJ, et al. J Cell Biol, 2019 Apr 1. PMID 30770434, Free PMC Article
    3. Map7/7D1 and Dvl form a feedback loop that facilitates microtubule remodeling and Wnt5a signaling. Kikuchi K, et al. EMBO Rep, 2018 Jul. PMID 29880710, Free PMC Article
    4. CCG repeats in cDNAs from human brain. Kleiderlein JJ, et al. Hum Genet, 1998 Dec. PMID 9921901
    5. Regulation of the linear ubiquitination of STAT1 controls antiviral interferon signaling. Zuo Y, et al. Nat Commun, 2020 Mar 2. PMID 32123171, Free PMC Article

    See all (99) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer.
      Title: Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer.
    2. MAP7 proteins are microtubule-tethered kinesin-1 activators, with which the motor transiently interacts as it moves along microtubules.
      Title: MAP7 family proteins regulate kinesin-1 recruitment and activation.
    3. Here we show that in HeLa cells, the paralogous MT-associated proteins Map7 and Map7D1 (Map7/7D1) form an interdependent regulatory loop with Disheveled, the critical signal transducer in Wnt signaling
      Title: Map7/7D1 and Dvl form a feedback loop that facilitates microtubule remodeling and Wnt5a signaling.
    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

    • FLJ10350, FLJ39022, MGC117315

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MAP7 domain-containing protein 1
    Names
    arginine/proline rich coiled-coil 1
    arginine/proline-rich coiled-coil domain-containing protein 1
    proline arginine rich coiled coil 1
    proline/arginine-rich coiled-coil domain-containing protein 1

    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.

    mRNA and Protein(s)

    1. NM_001286365.2 → NP_001273294.1  MAP7 domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001273294.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon and uses an alternate splice site compared to variant 1. The encoded isoform (2) ishorter than isofoem 1.
      Source sequence(s)
      AB033013, AC114484, AF218002
      Consensus CDS
      CCDS65493.1
      UniProtKB/Swiss-Prot
      Q3KQU3
      Related
      ENSP00000320228.4, ENST00000316156.8
      Conserved Domains (4) summary
      PTZ00121
      Location:130 → 221
      PTZ00121; MAEBL; Provisional
      PTZ00449
      Location:56 → 143
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      PHA03247
      Location:278 → 558
      PHA03247; large tegument protein UL36; Provisional
      pfam05672
      Location:551 → 689
      MAP7; MAP7 (E-MAP-115) family

    2. NM_001286366.2 → NP_001273295.1  MAP7 domain-containing protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001273295.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple coding region differences but maintains the reading frame compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC114484, AF218002, AK096341
      Consensus CDS
      CCDS65492.1
      UniProtKB/Swiss-Prot
      Q3KQU3
      UniProtKB/TrEMBL
      B3KU03
      Related
      ENSP00000362243.4, ENST00000373150.8
      Conserved Domains (2) summary
      pfam05672
      Location:556 → 697
      MAP7; MAP7 (E-MAP-115) family
      pfam14303
      Location:83 → 209
      NAM-associated; No apical meristem-associated C-terminal domain

    3. NM_001388490.1 → NP_001375419.1  MAP7 domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC114484
      Consensus CDS
      CCDS90916.1
      UniProtKB/TrEMBL
      D3DPS3, Q6NX58
      Related
      ENSP00000507044.1, ENST00000474796.2
      Conserved Domains (4) summary
      PTZ00121
      Location:130 → 221
      PTZ00121; MAEBL; Provisional
      PHA03247
      Location:315 → 595
      PHA03247; large tegument protein UL36; Provisional
      PRK12323
      Location:2 → 131
      PRK12323; DNA polymerase III subunit gamma/tau
      pfam05672
      Location:588 → 729
      MAP7; MAP7 (E-MAP-115) family

    4. NM_018067.5 → NP_060537.3  MAP7 domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060537.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB033013, AC114484, AF218002, BC106053
      Consensus CDS
      CCDS30673.1
      UniProtKB/Swiss-Prot
      D3DPS4, Q3KQU3, Q7L8J5, Q8N905, Q8TAK0, Q9HBQ2, Q9NW29, Q9ULN3
      UniProtKB/TrEMBL
      Q6NX58
      Related
      ENSP00000362244.2, ENST00000373151.6
      Conserved Domains (2) summary
      pfam05672
      Location:588 → 728
      MAP7; MAP7 (E-MAP-115) family
      pfam14303
      Location:83 → 209
      NAM-associated; No apical meristem-associated C-terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      36156160..36180849
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      36019039..36043724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KQU3.1 GenPept UniProtKB/Swiss-Prot:Q3KQU3

    Gene LinkOut

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

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