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

Gene ID: 130162, updated on 5-Aug-2022

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
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Genomic context

See CLHC1 in Genome Data Viewer
Location:
2p16.1
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55172547..55232563, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55169784..55229793, complement)
105.20220307 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 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:55360796-55361708 Neighboring gene CRISPRi-validated cis-regulatory element chr2.2087 Neighboring gene CDPF1 pseudogene 1 Neighboring gene ribosomal protein S27a Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822

Genomic regions, transcripts, and products

Expression

  • 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

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 gene information

Markers

Potential readthrough

Included gene: RTN4

Homology

Clone Names

  • FLJ31438

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)