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    CLHC1 clathrin heavy chain linker domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 130162, updated on 17-Sep-2024

    Summary

    Official Symbol
    CLHC1provided by HGNC
    Official Full Name
    clathrin heavy chain linker domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:26453
    See related
    Ensembl:ENSG00000162994 AllianceGenome:HGNC:26453
    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
    C2orf63
    Expression
    Broad expression in testis (RPKM 1.3), thyroid (RPKM 0.8) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CLHC1 in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55172547..55232563, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55169784..55229793, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55399683..55459699, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene reticulon 4 Neighboring gene RNA, U6 small nuclear 433, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15772 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55276593-55277405 Neighboring gene uncharacterized LOC105374662 Neighboring gene Sharpr-MPRA regulatory region 4359 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:55360796-55361708 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15776 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15778 Neighboring gene CDPF1 pseudogene 1 Neighboring gene ribosomal protein S27a Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55496405-55497228 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55508487-55509380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55509381-55510272 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    clathrin heavy chain linker domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_033063.1 RefSeqGene

      Range
      5271..65017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135598.2NP_001129070.1  clathrin heavy chain linker domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001129070.1

      Status: VALIDATED

      Source sequence(s)
      AC093165, BC029502, BC036908, BM046729, BM968338
      Consensus CDS
      CCDS46287.1
      UniProtKB/Swiss-Prot
      Q8NHS4
      Related
      ENSP00000385512.1, ENST00000406076.5
      Conserved Domains (1) summary
      pfam13838
      Location:175232
      Clathrin_H_link; Clathrin-H-link
    2. NM_001353779.2NP_001340708.1  clathrin heavy chain linker domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:113166
      Clathrin_H_link; Clathrin-H-link
    3. NM_001353780.2NP_001340709.1  clathrin heavy chain linker domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (2) summary
      pfam13838
      Location:235288
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30136
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus
    4. NM_001353781.2NP_001340710.1  clathrin heavy chain linker domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Consensus CDS
      CCDS46287.1
      Conserved Domains (1) summary
      pfam13838
      Location:175232
      Clathrin_H_link; Clathrin-H-link
    5. NM_001353782.2NP_001340711.1  clathrin heavy chain linker domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:157214
      Clathrin_H_link; Clathrin-H-link
    6. NM_001353783.2NP_001340712.1  clathrin heavy chain linker domain-containing protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:157214
      Clathrin_H_link; Clathrin-H-link
    7. NM_001353784.2NP_001340713.1  clathrin heavy chain linker domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Consensus CDS
      CCDS46287.1
      Conserved Domains (1) summary
      pfam13838
      Location:175232
      Clathrin_H_link; Clathrin-H-link
    8. NM_001353785.2NP_001340714.1  clathrin heavy chain linker domain-containing protein 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:95148
      Clathrin_H_link; Clathrin-H-link
    9. NM_001353786.2NP_001340715.1  clathrin heavy chain linker domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:113166
      Clathrin_H_link; Clathrin-H-link
    10. NM_001353787.2NP_001340716.1  clathrin heavy chain linker domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
      Conserved Domains (1) summary
      pfam13838
      Location:113166
      Clathrin_H_link; Clathrin-H-link
    11. NM_152385.4NP_689598.2  clathrin heavy chain linker domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_689598.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC093165, AK315683, BC029502, BM046729, BM968338, DA249479, DA713663, DB055534
      Consensus CDS
      CCDS33201.1
      UniProtKB/Swiss-Prot
      B2RDV1, Q53R93, Q8N403, Q8NHS4
      Related
      ENSP00000384869.1, ENST00000401408.6
      Conserved Domains (2) summary
      pfam13838
      Location:297354
      Clathrin_H_link; Clathrin-H-link
      pfam15739
      Location:30136
      TSNAXIP1_N; Translin-associated factor X-interacting N-terminus

    RNA

    1. NR_148538.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
    2. NR_148539.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
    3. NR_148540.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
    4. NR_148541.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
    5. NR_148542.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165
    6. NR_148543.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012358, AC093165

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      55172547..55232563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      55169784..55229793 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)