Cltc clathrin heavy chain [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cltcprovided by MGI
Official Full Name: clathrin heavy chainprovided by MGI
Primary source: MGI:MGI:2388633
See related: Ensembl:ENSMUSG00000047126 AllianceGenome:MGI:2388633
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: CHC; 3110065L21Rik
Summary: Enables protein kinase binding activity. Predicted to be involved in several processes, including amyloid-beta clearance by transcytosis; endocytosis; and negative regulation of hyaluronan biosynthetic process. Predicted to act upstream of or within mitotic spindle assembly. Located in clathrin-coated pit. Part of membrane coat. Is active in several cellular components, including photoreceptor ribbon synapse; postsynaptic endocytic zone; and presynaptic endocytic zone membrane. Is expressed in several structures, including brain; early embryo; placenta; and unsegmented mesenchyme. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 56. Orthologous to human CLTC (clathrin heavy chain). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 76.8), cerebellum adult (RPKM 54.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.82 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (86585178..86648637, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (86694352..86757567, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucleosomes enter cells by clathrin- and caveolin-dependent endocytosis.
Title: Nucleosomes enter cells by clathrin- and caveolin-dependent endocytosis.
Clathrin switches transforming growth factor-beta role to pro-tumorigenic in liver cancer.
Title: Clathrin switches transforming growth factor-β role to pro-tumorigenic in liver cancer.
Clathrin's adaptor interaction sites are repurposed to stabilize microtubules during mitosis.
Title: Clathrin's adaptor interaction sites are repurposed to stabilize microtubules during mitosis.
These results suggest a novel paradigm in cell biology, wherein clathrin plaques act as platforms capable of recruiting branched cortical actin, which in turn anchors intermediate filaments, both essential for striated muscle formation and function.
Title: Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.
our results demonstrate that CKAP5 is important in oocyte maturation and early embryo development, and CKAP5 might work together with CLTC in mouse oocyte maturation
Title: Cytoskeleton-associated protein 5 and clathrin heavy chain binding regulates spindle assembly in mouse oocytes.
SP-A transiently enhances the basal protein expression of CHC and alpha-adaptin.
Title: Surfactant Protein A Enhances Constitutive Immune Functions of Clathrin Heavy Chain and Clathrin Adaptor Protein 2.
MiR-199a-5p suppresses tumorigenesis by targeting CLTC in hepatocellular carcinoma.
Title: MiR-199a-5p suppresses tumorigenesis by targeting clathrin heavy chain in hepatocellular carcinoma.
PTEN-like domains of GAK and auxilin are not essential for Hsc70-dependent chaperoning and uncoating of clathrin, but depending on the tissue, these domains appear to increase the efficiency of these co-chaperones.
Title: The clathrin-binding and J-domains of GAK support the uncoating and chaperoning of clathrin by Hsc70 in the brain.
The clathrin-mediated endocytic machinery combines with Dab2 to facilitate the endocytosis of RGD-integrin-beta3 clusters.
Title: Integrin-beta3 clusters recruit clathrin-mediated endocytic machinery in the absence of traction force.
Taken together, these results show that CLTC plays an important role in spindle assembly and chromosome congression through a microtubule correlation mechanism during mouse oocyte maturation.
Title: Clathrin heavy chain 1 is required for spindle assembly and chromosome congression in mouse oocytes.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cltc (e-PCR), detects polymorphism
- UniSTS:259594

NoName (e-PCR)
- UniSTS:548396

RH125101 (e-PCR)
- UniSTS:161923

RH25272 (e-PCR)
- UniSTS:72661

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ankyrin binding	ISO Inferred from Sequence Orthology more info
enables clathrin light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin light chain binding	IEA Inferred from Electronic Annotation more info
enables clathrin light chain binding	ISO Inferred from Sequence Orthology more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables double-stranded RNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables low-density lipoprotein particle receptor binding	ISO Inferred from Sequence Orthology more info
enables peptide binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase binding	ISO Inferred from Sequence Orthology more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin-specific protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta clearance by transcytosis	ISO Inferred from Sequence Orthology more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin coat assembly	ISO Inferred from Sequence Orthology more info
involved_in clathrin coat disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitotic spindle assembly	ISO Inferred from Sequence Orthology more info	PubMed
involved_in negative regulation of hyaluronan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hyaluronan biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein localization to plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in receptor-mediated endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor-mediated endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic spindle organization	ISO Inferred from Sequence Orthology more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
involved_in transferrin transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of Myb complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in T-tubule	ISO Inferred from Sequence Orthology more info
part_of clathrin coat	ISO Inferred from Sequence Orthology more info
part_of clathrin coat of coated pit	IEA Inferred from Electronic Annotation more info
part_of clathrin coat of trans-Golgi network vesicle	IEA Inferred from Electronic Annotation more info
part_of clathrin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of clathrin complex	IEA Inferred from Electronic Annotation more info
part_of clathrin complex	ISO Inferred from Sequence Orthology more info
is_active_in clathrin-coated endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated pit	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in extrinsic component of synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IMP Inferred from Mutant Phenotype more info	PubMed
part_of membrane coat	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle microtubule	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
is_active_in photoreceptor ribbon synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic endocytic zone	EXP Inferred from Experiment more info	PubMed
is_active_in postsynaptic endocytic zone	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic endocytic zone membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle	IEA Inferred from Electronic Annotation more info
located_in spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: clathrin heavy chain 1

Names: clathrin, heavy polypeptide (Hc)

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)

NM_001003908.2 → NP_001003908.1 clathrin heavy chain 1 isoform 2

See identical proteins and their annotated locations for NP_001003908.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

BB840649, BC079897, BP758029, CF745318, CJ103480

Consensus CDS

CCDS25204.1

UniProtKB/Swiss-Prot

Q68FD5

UniProtKB/TrEMBL

Q5SXR6

Related

ENSMUSP00000099475.5, ENSMUST00000103186.11

Conserved Domains (6) summary

smart00299
Location:1274 → 1416

CLH; Clathrin heavy chain repeat homology

sd00006
Location:1105 → 1131

TPR; TPR repeat [structural motif]

pfam01394
Location:198 → 234

Clathrin_propel; Clathrin propeller repeat

pfam00637
Location:1427 → 1561

Clathrin; Region in Clathrin and VPS

pfam09268
Location:331 → 354

Clathrin-link; Clathrin, heavy-chain linker

pfam13838
Location:356 → 421

Clathrin_H_link; Clathrin-H-link
NM_001356393.1 → NP_001343322.1 clathrin heavy chain 1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL592222, BB840649, BC079897, BP758029, CF745318, CJ103480

UniProtKB/TrEMBL

Q5SXR6

Conserved Domains (6) summary

smart00299
Location:1274 → 1416

CLH; Clathrin heavy chain repeat homology

sd00006
Location:1105 → 1131

TPR; TPR repeat [structural motif]

pfam01394
Location:198 → 234

Clathrin_propel; Clathrin propeller repeat

pfam00637
Location:1427 → 1561

Clathrin; Region in Clathrin and VPS

pfam09268
Location:331 → 354

Clathrin-link; Clathrin, heavy-chain linker

pfam13838
Location:356 → 421

Clathrin_H_link; Clathrin-H-link

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

86585178..86648637 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533985.3 → XP_006534048.1 clathrin heavy chain 1 isoform X2

UniProtKB/TrEMBL

Q5SXR6

Conserved Domains (6) summary

smart00299
Location:1275 → 1417

CLH; Clathrin heavy chain repeat homology

sd00006
Location:1106 → 1132

TPR; TPR repeat [structural motif]

pfam01394
Location:199 → 235

Clathrin_propel; Clathrin propeller repeat

pfam00637
Location:1428 → 1562

Clathrin; Region in Clathrin and VPS

pfam09268
Location:332 → 355

Clathrin-link; Clathrin, heavy-chain linker

pfam13838
Location:357 → 422

Clathrin_H_link; Clathrin-H-link
XM_006533983.3 → XP_006534046.1 clathrin heavy chain 1 isoform X1

UniProtKB/TrEMBL

Q5SXR6

Conserved Domains (6) summary

smart00299
Location:1275 → 1417

CLH; Clathrin heavy chain repeat homology

sd00006
Location:1106 → 1132

TPR; TPR repeat [structural motif]

pfam01394
Location:199 → 235

Clathrin_propel; Clathrin propeller repeat

pfam00637
Location:1428 → 1562

Clathrin; Region in Clathrin and VPS

pfam09268
Location:332 → 355

Clathrin-link; Clathrin, heavy-chain linker

pfam13838
Location:357 → 422

Clathrin_H_link; Clathrin-H-link