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    CLTCL1 clathrin, heavy chain-like 1 [ Homo sapiens (human) ]

    Gene ID: 8218, updated on 27-Jun-2015
    Official Symbol
    CLTCL1provided by HGNC
    Official Full Name
    clathrin, heavy chain-like 1provided by HGNC
    Primary source
    HGNC:HGNC:2093
    See related
    Ensembl:ENSG00000070371; HPRD:03172; MIM:601273; Vega:OTTHUMG00000150109
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CLTD; CHC22; CLH22; CLTCL
    Summary
    This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
    Orthologs
    See CLTCL1 in Epigenomics, MapViewer
    Location:
    22q11.21
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (19179473..19291725, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19166986..19279247, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1311 Neighboring gene solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 Neighboring gene ribosomal protein L34 pseudogene 35 Neighboring gene keratin 18 pseudogene 62 Neighboring gene dishevelled segment polarity protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105372859 Neighboring gene histone cell cycle regulator Neighboring gene mitochondrial ribosomal protein L40

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies CLTCL1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ36032

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glucose import IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    clathrin coat of coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin coat of trans-Golgi network vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin-coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    coated pit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    coated vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    clathrin heavy chain 2
    Names
    clathrin heavy chain 2
    CLH-22
    Clathrin, heavy polypeptide D
    clathrin heavy chain on chromosome 22
    clathrin, heavy polypeptide-like 1

    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.

    Genomic

    1. NG_033805.1 RefSeqGene

      Range
      5001..117244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001835.3NP_001826.3  clathrin heavy chain 2 isoform 2

      See identical proteins and their annotated locations for NP_001826.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment near the C-terminus, compared to isoform 1.
      Source sequence(s)
      AK302506, BP281338, U41763
      Consensus CDS
      CCDS54497.2
      UniProtKB/Swiss-Prot
      P53675
      Related
      ENSP00000485020, OTTHUMP00000276155, ENST00000621271, OTTHUMT00000316398
      Conserved Domains (5) summary
      smart00299
      Location:9791119
      CLH; Clathrin heavy chain repeat homology
      pfam01394
      Location:198234
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:331354
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:356421
      Clathrin_H_link; Clathrin-H-link
      cl19570
      Location:14271521
      Clathrin; Region in Clathrin and VPS
    2. NM_007098.3NP_009029.3  clathrin heavy chain 2 isoform 1

      See identical proteins and their annotated locations for NP_009029.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK302506, BP281338, U41763, X95486
      Consensus CDS
      CCDS46662.2
      UniProtKB/Swiss-Prot
      P53675
      Related
      ENSP00000441158, OTTHUMP00000276156, ENST00000427926, OTTHUMT00000316397
      Conserved Domains (5) summary
      smart00299
      Location:9791119
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:14271565
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:198234
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:331354
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:356421
      Clathrin_H_link; Clathrin-H-link

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      19179473..19291725
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530396.1XP_011528698.1  

      Conserved Domains (5) summary
      smart00299
      Location:9621102
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:14101548
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:279313
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:314337
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:339404
      Clathrin_H_link; Clathrin-H-link
    2. XM_011530397.1XP_011528699.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:13571495
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    3. XM_006724328.1XP_006724391.1  

      Conserved Domains (4) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    4. XM_005277801.2XP_005277858.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
      cl19570
      Location:14481542
      Clathrin; Region in Clathrin and VPS
    5. XM_011530395.1XP_011528697.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:14481586
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    6. XM_005277800.2XP_005277857.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:14481586
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    7. XM_011530401.1XP_011528703.1  

      Conserved Domains (2) summary
      smart00299
      Location:376516
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:824962
      Clathrin; Region in Clathrin and VPS
    8. XM_011530398.1XP_011528700.1  

      Related
      ENSP00000480709, OTTHUMP00000276158, ENST00000617103, OTTHUMT00000398426
      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:10041143
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    9. XM_011530399.1XP_011528701.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:10041143
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link
    10. XM_011530400.1XP_011528702.1  

      Conserved Domains (5) summary
      smart00299
      Location:10001140
      CLH; Clathrin heavy chain repeat homology
      pfam00637
      Location:10041143
      Clathrin; Region in Clathrin and VPS
      pfam01394
      Location:219255
      Clathrin_propel; Clathrin propeller repeat
      pfam09268
      Location:352375
      Clathrin-link; Clathrin, heavy-chain linker
      pfam13838
      Location:377442
      Clathrin_H_link; Clathrin-H-link

    RNA

    1. XR_937924.1 RNA Sequence

    2. XR_937923.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      19166535..19278801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)