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Protein

Clathrin heavy chain 2

Gene

CLTCL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • clathrin light chain binding Source: GO_Central
  • structural molecule activity Source: InterPro

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • clathrin coat assembly Source: InterPro
  • intracellular protein transport Source: InterPro
  • membrane organization Source: Reactome
  • mitotic cell cycle Source: UniProtKB
  • positive regulation of glucose import Source: UniProtKB
  • receptor-mediated endocytosis Source: UniProtKB
  • retrograde transport, endosome to Golgi Source: UniProtKB

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-190873 Gap junction degradation
R-HSA-196025 Formation of annular gap junctions
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis

SIGNOR Signaling Network Open Resource

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SIGNORi
P53675

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
P53675 Curated

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Clathrin heavy chain 2
Alternative name(s):
Clathrin heavy chain on chromosome 22
Short name:
CLH-22
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CLTCL1
Synonyms:CLH22, CLTCL, CLTD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000070371.15

Human Gene Nomenclature Database

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HGNCi
HGNC:2093 CLTCL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601273 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P53675

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Coated pit, Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
8218

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CLTCL1

MalaCards human disease database

More...
MalaCardsi
CLTCL1

Open Targets

More...
OpenTargetsi
ENSG00000070371

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
453510 Congenital insensitivity to pain with severe intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26619

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLTCL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2506298

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedBy similarity
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002057862 – 1640Clathrin heavy chain 2Add BLAST1639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineBy similarity1
Modified residuei67PhosphoserineBy similarity1
Modified residuei184PhosphotyrosineBy similarity1
Modified residuei394PhosphothreonineBy similarity1
Modified residuei634PhosphotyrosineBy similarity1
Modified residuei737N6-succinyllysineBy similarity1
Modified residuei856N6-acetyllysineBy similarity1
Modified residuei899PhosphotyrosineBy similarity1
Modified residuei1167PhosphoserineBy similarity1
Modified residuei1206PhosphotyrosineBy similarity1
Modified residuei1229PhosphoserineBy similarity1
Modified residuei1441N6-acetyllysine; alternateBy similarity1
Modified residuei1441N6-succinyllysine; alternateBy similarity1
Modified residuei1477PhosphotyrosineBy similarity1
Modified residuei1487PhosphotyrosineBy similarity1
Modified residuei1494PhosphoserineBy similarity1
Modified residuei1501N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P53675

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P53675

MaxQB - The MaxQuant DataBase

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MaxQBi
P53675

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P53675

PeptideAtlas

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PeptideAtlasi
P53675

PRoteomics IDEntifications database

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PRIDEi
P53675

ProteomicsDB human proteome resource

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ProteomicsDBi
56608
56609 [P53675-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P53675

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P53675

SwissPalm database of S-palmitoylation events

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SwissPalmi
P53675

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000070371 Expressed in 153 organ(s), highest expression level in gastrocnemius

CleanEx database of gene expression profiles

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CleanExi
HS_CLTCL1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P53675 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P53675 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA075795

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat. In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium (By similarity). May interact with OCRL (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113854, 84 interactors

Protein interaction database and analysis system

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IntActi
P53675, 30 interactors

Molecular INTeraction database

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MINTi
P53675

STRING: functional protein association networks

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STRINGi
9606.ENSP00000445677

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P53675

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P53675

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati537 – 683CHCR 1Add BLAST147
Repeati686 – 828CHCR 2Add BLAST143
Repeati833 – 972CHCR 3Add BLAST140
Repeati979 – 1124CHCR 4Add BLAST146
Repeati1128 – 1269CHCR 5Add BLAST142
Repeati1274 – 1420CHCR 6Add BLAST147
Repeati1423 – 1566CHCR 7Add BLAST144

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 479Globular terminal domainAdd BLAST478
Regioni24 – 67WD40-like repeat 1Add BLAST44
Regioni68 – 107WD40-like repeat 2Add BLAST40
Regioni108 – 149WD40-like repeat 3Add BLAST42
Regioni150 – 195WD40-like repeat 4Add BLAST46
Regioni196 – 257WD40-like repeat 5Add BLAST62
Regioni258 – 301WD40-like repeat 6Add BLAST44
Regioni302 – 330WD40-like repeat 7Add BLAST29
Regioni449 – 465Binding site for the uncoating ATPase, involved in lattice disassemblySequence analysisAdd BLAST17
Regioni480 – 523Flexible linkerAdd BLAST44
Regioni524 – 1640Heavy chain armAdd BLAST1117
Regioni524 – 634Distal segmentAdd BLAST111
Regioni639 – 1640Proximal segmentAdd BLAST1002
Regioni1213 – 1522Involved in binding clathrin light chainBy similarityAdd BLAST310
Regioni1551 – 1640TrimerizationBy similarityAdd BLAST90

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal third of the heavy chains forms the hub of the triskelion. This region contains the trimerization domain and the light-chain binding domain involved in the assembly of the clathrin lattice.
The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node (By similarity).By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the clathrin heavy chain family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0985 Eukaryota
ENOG410XPH1 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154541

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000188877

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005344

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P53675

KEGG Orthology (KO)

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KOi
K04646

Identification of Orthologs from Complete Genome Data

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OMAi
EPTPIVF

Database of Orthologous Groups

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OrthoDBi
17940at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P53675

TreeFam database of animal gene trees

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TreeFami
TF300059

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 4 hits
2.130.10.110, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR000547 Clathrin_H-chain/VPS_repeat
IPR015348 Clathrin_H-chain_linker_core
IPR016025 Clathrin_H-chain_N
IPR022365 Clathrin_H-chain_propeller_rpt
IPR016341 Clathrin_heavy_chain
IPR011990 TPR-like_helical_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00637 Clathrin, 7 hits
PF09268 Clathrin-link, 1 hit
PF01394 Clathrin_propel, 4 hits

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF002290 Clathrin_H_chain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00299 CLH, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 6 hits
SSF50989 SSF50989, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50236 CHCR, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P53675-1) [UniParc]FASTAAdd to basket
Also known as: Long, Brain

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAQILPVRFQ EHFQLQNLGI NPANIGFSTL TMESDKFICI REKVGEQAQV
60 70 80 90 100
TIIDMSDPMA PIRRPISAES AIMNPASKVI ALKAGKTLQI FNIEMKSKMK
110 120 130 140 150
AHTMAEEVIF WKWVSVNTVA LVTETAVYHW SMEGDSQPMK MFDRHTSLVG
160 170 180 190 200
CQVIHYRTDE YQKWLLLVGI SAQQNRVVGA MQLYSVDRKV SQPIEGHAAA
210 220 230 240 250
FAEFKMEGNA KPATLFCFAV RNPTGGKLHI IEVGQPAAGN QPFVKKAVDV
260 270 280 290 300
FFPPEAQNDF PVAMQIGAKH GVIYLITKYG YLHLYDLESG VCICMNRISA
310 320 330 340 350
DTIFVTAPHK PTSGIIGVNK KGQVLSVCVE EDNIVNYATN VLQNPDLGLR
360 370 380 390 400
LAVRSNLAGA EKLFVRKFNT LFAQGSYAEA AKVAASAPKG ILRTRETVQK
410 420 430 440 450
FQSIPAQSGQ ASPLLQYFGI LLDQGQLNKL ESLELCHLVL QQGRKQLLEK
460 470 480 490 500
WLKEDKLECS EELGDLVKTT DPMLALSVYL RANVPSKVIQ CFAETGQFQK
510 520 530 540 550
IVLYAKKVGY TPDWIFLLRG VMKISPEQGL QFSRMLVQDE EPLANISQIV
560 570 580 590 600
DIFMENSLIQ QCTSFLLDAL KNNRPAEGLL QTWLLEMNLV HAPQVADAIL
610 620 630 640 650
GNKMFTHYDR AHIAQLCEKA GLLQQALEHY TDLYDIKRAV VHTHLLNPEW
660 670 680 690 700
LVNFFGSLSV EDSVECLHAM LSANIRQNLQ LCVQVASKYH EQLGTQALVE
710 720 730 740 750
LFESFKSYKG LFYFLGSIVN FSQDPDVHLK YIQAACKTGQ IKEVERICRE
760 770 780 790 800
SSCYNPERVK NFLKEAKLTD QLPLIIVCDR FGFVHDLVLY LYRNNLQRYI
810 820 830 840 850
EIYVQKVNPS RTPAVIGGLL DVDCSEEVIK HLIMAVRGQF STDELVAEVE
860 870 880 890 900
KRNRLKLLLP WLESQIQEGC EEPATHNALA KIYIDSNNSP ECFLRENAYY
910 920 930 940 950
DSSVVGRYCE KRDPHLACVA YERGQCDLEL IKVCNENSLF KSEARYLVCR
960 970 980 990 1000
KDPELWAHVL EETNPSRRQL IDQVVQTALS ETRDPEEISV TVKAFMTADL
1010 1020 1030 1040 1050
PNELIELLEK IVLDNSVFSE HRNLQNLLIL TAIKADRTRV MEYISRLDNY
1060 1070 1080 1090 1100
DALDIASIAV SSALYEEAFT VFHKFDMNAS AIQVLIEHIG NLDRAYEFAE
1110 1120 1130 1140 1150
RCNEPAVWSQ LAQAQLQKDL VKEAINSYIR GDDPSSYLEV VQSASRSNNW
1160 1170 1180 1190 1200
EDLVKFLQMA RKKGRESYIE TELIFALAKT SRVSELEDFI NGPNNAHIQQ
1210 1220 1230 1240 1250
VGDRCYEEGM YEAAKLLYSN VSNFARLAST LVHLGEYQAA VDNSRKASST
1260 1270 1280 1290 1300
RTWKEVCFAC MDGQEFRFAQ LCGLHIVIHA DELEELMCYY QDRGYFEELI
1310 1320 1330 1340 1350
LLLEAALGLE RAHMGMFTEL AILYSKFKPQ KMLEHLELFW SRVNIPKVLR
1360 1370 1380 1390 1400
AAEQAHLWAE LVFLYDKYEE YDNAVLTMMS HPTEAWKEGQ FKDIITKVAN
1410 1420 1430 1440 1450
VELCYRALQF YLDYKPLLIN DLLLVLSPRL DHTWTVSFFS KAGQLPLVKP
1460 1470 1480 1490 1500
YLRSVQSHNN KSVNEALNHL LTEEEDYQGL RASIDAYDNF DNISLAQQLE
1510 1520 1530 1540 1550
KHQLMEFRCI AAYLYKGNNW WAQSVELCKK DHLYKDAMQH AAESRDAELA
1560 1570 1580 1590 1600
QKLLQWFLEE GKRECFAACL FTCYDLLRPD MVLELAWRHN LVDLAMPYFI
1610 1620 1630 1640
QVMREYLSKV DKLDALESLR KQEEHVTEPA PLVFDFDGHE
Length:1,640
Mass (Da):187,030
Last modified:November 1, 1997 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC661E1AB989D8E7F
GO
Isoform 2 (identifier: P53675-2) [UniParc]FASTAAdd to basket
Also known as: Short, Muscle

The sequence of this isoform differs from the canonical sequence as follows:
     1479-1535: Missing.

Show »
Length:1,583
Mass (Da):180,296
Checksum:i5DB1E3D4A77607D8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX41A0A087WX41_HUMAN
Clathrin heavy chain 2
CLTCL1
1,260Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H5N6F5H5N6_HUMAN
Clathrin heavy chain 2
CLTCL1
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WXH4A0A087WXH4_HUMAN
Clathrin heavy chain 2
CLTCL1
463Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YGJ9H0YGJ9_HUMAN
Clathrin heavy chain 2
CLTCL1
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WV74A0A087WV74_HUMAN
Clathrin heavy chain 2
CLTCL1
369Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y529H0Y529_HUMAN
Clathrin heavy chain 2
CLTCL1
43Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti193P → H in AAC50494 (PubMed:8733128).Curated1
Sequence conflicti215L → H in AAC50494 (PubMed:8733128).Curated1
Sequence conflicti320K → T in CAA64752 (PubMed:8733129).Curated1
Sequence conflicti530L → Q in AAC50494 (PubMed:8733128).Curated1
Sequence conflicti1474E → K in AAB40908 (PubMed:8844170).Curated1
Sequence conflicti1474E → K in AAB40909 (PubMed:8844170).Curated1
Sequence conflicti1620 – 1640RKQEE…FDGHE → PPSKRSM in AAB40908 (PubMed:8844170).CuratedAdd BLAST21
Sequence conflicti1620 – 1640RKQEE…FDGHE → PPSKRSM in AAB40909 (PubMed:8844170).CuratedAdd BLAST21

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05565361P → L. Corresponds to variant dbSNP:rs3747059Ensembl.1
Natural variantiVAR_055654205K → R. Corresponds to variant dbSNP:rs5746697Ensembl.1
Natural variantiVAR_055655279Y → C. Corresponds to variant dbSNP:rs807459Ensembl.1
Natural variantiVAR_055656691E → K1 PublicationCorresponds to variant dbSNP:rs1060374Ensembl.1
Natural variantiVAR_055657941K → R. Corresponds to variant dbSNP:rs35398725Ensembl.1
Natural variantiVAR_055658945R → H. Corresponds to variant dbSNP:rs36077768Ensembl.1
Natural variantiVAR_0556591046R → C. Corresponds to variant dbSNP:rs712952Ensembl.1
Natural variantiVAR_0592141195N → S. Corresponds to variant dbSNP:rs807547Ensembl.1
Natural variantiVAR_0592151316M → V. Corresponds to variant dbSNP:rs1061325Ensembl.1
Natural variantiVAR_0592161394I → T. Corresponds to variant dbSNP:rs1633399Ensembl.1
Natural variantiVAR_0592171592V → M. Corresponds to variant dbSNP:rs2073738Ensembl.1
Natural variantiVAR_0592181620R → H. Corresponds to variant dbSNP:rs5748024Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0011001479 – 1535Missing in isoform 2. 3 PublicationsAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U41763 mRNA Translation: AAC50494.1
X95486 mRNA Translation: CAA64752.1
X95487 mRNA Translation: CAA64753.1
U60802 mRNA Translation: AAB40908.1
U60803 mRNA Translation: AAB40909.1
AK302506 mRNA Translation: BAH13731.1
CH471176 Genomic DNA Translation: EAX03047.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS46662.2 [P53675-1]
CCDS54497.2 [P53675-2]

Protein sequence database of the Protein Information Resource

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PIRi
G02757
T09522

NCBI Reference Sequences

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RefSeqi
NP_001826.3, NM_001835.3 [P53675-2]
NP_009029.3, NM_007098.3 [P53675-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.368266

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000427926; ENSP00000441158; ENSG00000070371 [P53675-1]
ENST00000621271; ENSP00000485020; ENSG00000070371 [P53675-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8218

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8218

UCSC genome browser

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UCSCi
uc032qgb.2 human [P53675-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U41763 mRNA Translation: AAC50494.1
X95486 mRNA Translation: CAA64752.1
X95487 mRNA Translation: CAA64753.1
U60802 mRNA Translation: AAB40908.1
U60803 mRNA Translation: AAB40909.1
AK302506 mRNA Translation: BAH13731.1
CH471176 Genomic DNA Translation: EAX03047.1
CCDSiCCDS46662.2 [P53675-1]
CCDS54497.2 [P53675-2]
PIRiG02757
T09522
RefSeqiNP_001826.3, NM_001835.3 [P53675-2]
NP_009029.3, NM_007098.3 [P53675-1]
UniGeneiHs.368266

3D structure databases

ProteinModelPortaliP53675
SMRiP53675
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113854, 84 interactors
IntActiP53675, 30 interactors
MINTiP53675
STRINGi9606.ENSP00000445677

Protein family/group databases

MoonDBiP53675 Curated

PTM databases

iPTMnetiP53675
PhosphoSitePlusiP53675
SwissPalmiP53675

Polymorphism and mutation databases

BioMutaiCLTCL1
DMDMi2506298

Proteomic databases

EPDiP53675
jPOSTiP53675
MaxQBiP53675
PaxDbiP53675
PeptideAtlasiP53675
PRIDEiP53675
ProteomicsDBi56608
56609 [P53675-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8218
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000427926; ENSP00000441158; ENSG00000070371 [P53675-1]
ENST00000621271; ENSP00000485020; ENSG00000070371 [P53675-2]
GeneIDi8218
KEGGihsa:8218
UCSCiuc032qgb.2 human [P53675-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8218
DisGeNETi8218
EuPathDBiHostDB:ENSG00000070371.15

GeneCards: human genes, protein and diseases

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GeneCardsi
CLTCL1
GeneReviewsiCLTCL1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0016234
HGNCiHGNC:2093 CLTCL1
HPAiHPA075795
MalaCardsiCLTCL1
MIMi601273 gene
neXtProtiNX_P53675
OpenTargetsiENSG00000070371
Orphaneti453510 Congenital insensitivity to pain with severe intellectual disability
PharmGKBiPA26619

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0985 Eukaryota
ENOG410XPH1 LUCA
GeneTreeiENSGT00940000154541
HOGENOMiHOG000188877
HOVERGENiHBG005344
InParanoidiP53675
KOiK04646
OMAiEPTPIVF
OrthoDBi17940at2759
PhylomeDBiP53675
TreeFamiTF300059

Enzyme and pathway databases

ReactomeiR-HSA-190873 Gap junction degradation
R-HSA-196025 Formation of annular gap junctions
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
SIGNORiP53675

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CLTCL1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
8218

Protein Ontology

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PROi
PR:P53675

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000070371 Expressed in 153 organ(s), highest expression level in gastrocnemius
CleanExiHS_CLTCL1
ExpressionAtlasiP53675 baseline and differential
GenevisibleiP53675 HS

Family and domain databases

Gene3Di1.25.40.10, 4 hits
2.130.10.110, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR000547 Clathrin_H-chain/VPS_repeat
IPR015348 Clathrin_H-chain_linker_core
IPR016025 Clathrin_H-chain_N
IPR022365 Clathrin_H-chain_propeller_rpt
IPR016341 Clathrin_heavy_chain
IPR011990 TPR-like_helical_dom_sf
PfamiView protein in Pfam
PF00637 Clathrin, 7 hits
PF09268 Clathrin-link, 1 hit
PF01394 Clathrin_propel, 4 hits
PIRSFiPIRSF002290 Clathrin_H_chain, 1 hit
SMARTiView protein in SMART
SM00299 CLH, 7 hits
SUPFAMiSSF48371 SSF48371, 6 hits
SSF50989 SSF50989, 1 hit
PROSITEiView protein in PROSITE
PS50236 CHCR, 7 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCLH2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P53675
Secondary accession number(s): B7Z7U5
, Q14017, Q15808, Q15809
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 1, 1997
Last modified: January 16, 2019
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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