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    Clhc1 clathrin heavy chain linker domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 73324, updated on 17-Aug-2024

    Summary

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    Official Symbol
    Clhc1provided by MGI
    Official Full Name
    clathrin heavy chain linker domain containing 1provided by MGI
    Primary source
    MGI:MGI:1920574
    See related
    Ensembl:ENSMUSG00000020461 AllianceGenome:MGI:1920574
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    1700034F02Rik
    Summary
    Orthologous to human CLHC1 (clathrin heavy chain linker domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 3.7) and placenta adult (RPKM 0.1) See more
    Orthologs
    human all
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    Genomic context

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    See Clhc1 in Genome Data Viewer
    Location:
    11 A3.3; 11 16.79 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (29497950..29528360)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (29547950..29578360)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3936 Neighboring gene prolyl-tRNA synthetase domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:29426294-29426403 Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene STARR-seq mESC enhancer starr_29024 Neighboring gene ribosomal protein S27A Neighboring gene 60S ribosomal protein L7-like Neighboring gene STARR-seq mESC enhancer starr_29025 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene predicted gene 12092 Neighboring gene predicted gene, 53675 Neighboring gene STARR-seq mESC enhancer starr_29028

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    2. A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Hansen J, et al. Proc Natl Acad Sci U S A, 2003 Aug 19. PMID 12904583, Free PMC Article
    3. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    4. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    5. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    clathrin heavy chain linker domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001163521.1 → NP_001156993.1  clathrin heavy chain linker domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001156993.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks an internal 11-aa segment, compared to isoform 1.
      Source sequence(s)
      AK006591, BC144828, BX284634
      Consensus CDS
      CCDS83787.1
      UniProtKB/TrEMBL
      B7ZMV8
      Related
      ENSMUSP00000147007.2, ENSMUST00000208530.2
      Conserved Domains (2) summary
      pfam13838
      Location:297 → 354
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30 → 134
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    2. NM_028504.1 → NP_082780.1  clathrin heavy chain linker domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_082780.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer variant and encodes the longer isoform (1).
      Source sequence(s)
      AK006591, BX284634
      Consensus CDS
      CCDS48763.1
      UniProtKB/Swiss-Prot
      B2RQ04, Q5M6W3, Q9D9Q4
      Related
      ENSMUSP00000020753.4, ENSMUST00000020753.4
      Conserved Domains (2) summary
      pfam13838
      Location:308 → 365
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30 → 145
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      29497950..29528360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514818.3 → XP_006514881.1  clathrin heavy chain linker domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006514881.1

      UniProtKB/Swiss-Prot
      B2RQ04, Q5M6W3, Q9D9Q4
      Conserved Domains (2) summary
      pfam13838
      Location:308 → 365
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30 → 145
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    2. XM_006514819.3 → XP_006514882.1  clathrin heavy chain linker domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_006514882.1

      UniProtKB/TrEMBL
      B7ZMV8
      Conserved Domains (2) summary
      pfam13838
      Location:297 → 354
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30 → 134
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    3. XM_030246374.1 → XP_030102234.1  clathrin heavy chain linker domain-containing protein 1 isoform X3

      Conserved Domains (1) summary
      pfam13838
      Location:157 → 214
      Clathrin_H_link; Clathrin-H-link

    RNA

    1. XR_001780065.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5M6W3.1 GenPept UniProtKB/Swiss-Prot:Q5M6W3

    Gene LinkOut

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

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