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

Gene ID: 55700, updated on 7-Apr-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. Located in cytosol and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 43.2), brain (RPKM 39.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
1p34.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (36156160..36180849)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (36019039..36043724)
105.20220307 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
  • 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 (85) 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_2023_10

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

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