Seroatlas · Human Serome Atlas

CLTC

Clathrin heavy chain 1

Also known as: CLH1_HUMAN, CLTCL2, Hc

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q00610
Gene: CLTC
Ensembl: ENSG00000141367
Chromosome: 17
Canonical length: 1675 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Endosomes,Lysosomes,Mitotic spindle,Centriolar satellite,Cytosol,Mid piece

OverviewNCBI Gene

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1675 residues, UniProt reviewed canonical sequence.

>Q00610|CLTC
     1  MAQILPIRFQ EHLQLQNLGI NPANIGFSTL TMESDKFICI REKVGEQAQV VIIDMNDPSN
    61  PIRRPISADS AIMNPASKVI ALKAGKTLQI FNIEMKSKMK AHTMTDDVTF WKWISLNTVA
   121  LVTDNAVYHW SMEGESQPVK MFDRHSSLAG CQIINYRTDA KQKWLLLTGI SAQQNRVVGA
   181  MQLYSVDRKV SQPIEGHAAS FAQFKMEGNA EESTLFCFAV RGQAGGKLHI IEVGTPPTGN
   241  QPFPKKAVDV FFPPEAQNDF PVAMQISEKH DVVFLITKYG YIHLYDLETG TCIYMNRISG
   301  ETIFVTAPHE ATAGIIGVNR KGQVLSVCVE EENIIPYITN VLQNPDLALR MAVRNNLAGA
   361  EELFARKFNA LFAQGNYSEA AKVAANAPKG ILRTPDTIRR FQSVPAQPGQ TSPLLQYFGI
   421  LLDQGQLNKY ESLELCRPVL QQGRKQLLEK WLKEDKLECS EELGDLVKSV DPTLALSVYL
   481  RANVPNKVIQ CFAETGQVQK IVLYAKKVGY TPDWIFLLRN VMRISPDQGQ QFAQMLVQDE
   541  EPLADITQIV DVFMEYNLIQ QCTAFLLDAL KNNRPSEGPL QTRLLEMNLM HAPQVADAIL
   601  GNQMFTHYDR AHIAQLCEKA GLLQRALEHF TDLYDIKRAV VHTHLLNPEW LVNYFGSLSV
   661  EDSLECLRAM LSANIRQNLQ ICVQVASKYH EQLSTQSLIE LFESFKSFEG LFYFLGSIVN
   721  FSQDPDVHFK YIQAACKTGQ IKEVERICRE SNCYDPERVK NFLKEAKLTD QLPLIIVCDR
   781  FDFVHDLVLY LYRNNLQKYI EIYVQKVNPS RLPVVIGGLL DVDCSEDVIK NLILVVRGQF
   841  STDELVAEVE KRNRLKLLLP WLEARIHEGC EEPATHNALA KIYIDSNNNP ERFLRENPYY
   901  DSRVVGKYCE KRDPHLACVA YERGQCDLEL INVCNENSLF KSLSRYLVRR KDPELWGSVL
   961  LESNPYRRPL IDQVVQTALS ETQDPEEVSV TVKAFMTADL PNELIELLEK IVLDNSVFSE
  1021  HRNLQNLLIL TAIKADRTRV MEYINRLDNY DAPDIANIAI SNELFEEAFA IFRKFDVNTS
  1081  AVQVLIEHIG NLDRAYEFAE RCNEPAVWSQ LAKAQLQKGM VKEAIDSYIK ADDPSSYMEV
  1141  VQAANTSGNW EELVKYLQMA RKKARESYVE TELIFALAKT NRLAELEEFI NGPNNAHIQQ
  1201  VGDRCYDEKM YDAAKLLYNN VSNFGRLAST LVHLGEYQAA VDGARKANST RTWKEVCFAC
  1261  VDGKEFRLAQ MCGLHIVVHA DELEELINYY QDRGYFEELI TMLEAALGLE RAHMGMFTEL
  1321  AILYSKFKPQ KMREHLELFW SRVNIPKVLR AAEQAHLWAE LVFLYDKYEE YDNAIITMMN
  1381  HPTDAWKEGQ FKDIITKVAN VELYYRAIQF YLEFKPLLLN DLLMVLSPRL DHTRAVNYFS
  1441  KVKQLPLVKP YLRSVQNHNN KSVNESLNNL FITEEDYQAL RTSIDAYDNF DNISLAQRLE
  1501  KHELIEFRRI AAYLFKGNNR WKQSVELCKK DSLYKDAMQY ASESKDTELA EELLQWFLQE
  1561  EKRECFGACL FTCYDLLRPD VVLETAWRHN IMDFAMPYFI QVMKEYLTKV DKLDASESLR
  1621  KEEEQATETQ PIVYGQPQLM LTAGPSVAVP PQAPFGYGYT APPYGQPQPG FGYSM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CLTC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.28
Highest tissue expression: 151 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 151 nTPM
cerebral cortex: 129 nTPM
retina: 121 nTPM
placenta: 119 nTPM
blood vessel: 105 nTPM
rectum: 104 nTPM

Single-cell type

neutrophils: 602 nCPM
hofbauer cells: 414 nCPM
kupffer cells: 390 nCPM
erythrocyte progenitors: 352 nCPM
neutrophil progenitors: 344 nCPM
monocytes: 297 nCPM

Immune cell

intermediate monocyte: 32 nTPM
myeloid DC: 31 nTPM
non-classical monocyte: 29 nTPM
classical monocyte: 29 nTPM
plasmacytoid DC: 21 nTPM
T-reg: 20 nTPM

Brain region

pons: 264 nTPM
hypothalamus: 235 nTPM
medulla oblongata: 230 nTPM
white matter: 226 nTPM
cerebral cortex: 219 nTPM
thalamus: 217 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CLTC.

Disease | AllUniProt

Conditions CLTC is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal dominant 56 (MRD56) MIM:617854

Disease | GeneticClinVar

131 pathogenic / likely-pathogenic of 1,228 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal dominant 56
Inborn genetic diseases
Noonan syndrome 3
Abnormal corpus callosum morphology
See cases

Disease | ImmuneIEDB

Conditions an epitope on CLTC was assayed in.

skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.1
gnomAD pLI: 1
gnomAD missense Z: 7.76
DepMap mean gene effect: -1.44
DepMap dependency class: common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CLTC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CLTC as an antibody target. Whether an autoantibody or antibody against CLTC could matter depends on whether native CLTC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CLTC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CLTC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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