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P53675 (CLH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Clathrin heavy chain 2
Alternative name(s):
Clathrin heavy chain on chromosome 22
Short name=CLH-22
Gene names
Name:CLTCL1
Synonyms:CLH22, CLTCL, CLTD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1640 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side By similarity. Membranecoated pit; Peripheral membrane protein; Cytoplasmic side By similarity. Note: Cytoplasmic face of coated pits and vesicles By similarity.

Tissue specificity

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

Domain

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 consitutes a major protein-protein interaction node By similarity.

Sequence similarities

Belongs to the clathrin heavy chain family.

Contains 7 CHCR (clathrin heavy-chain) repeats.

Ontologies

Keywords
   Cellular componentCoated pit
Cytoplasmic vesicle
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement Ref.1. Source: ProtInc

intracellular protein transport

Inferred from electronic annotation. Source: InterPro

mitotic nuclear division

Inferred from direct assay PubMed 19509056. Source: UniProtKB

positive regulation of glucose import

Inferred from mutant phenotype PubMed 19478182. Source: UniProtKB

receptor-mediated endocytosis

Inferred from direct assay PubMed 19509056. Source: UniProtKB

signal transduction

Traceable author statement Ref.3. Source: GOC

   Cellular_componentclathrin coat of coated pit

Inferred from electronic annotation. Source: InterPro

clathrin coat of trans-Golgi network vesicle

Inferred from electronic annotation. Source: InterPro

clathrin-coated vesicle

Inferred from direct assay PubMed 19478182. Source: UniProtKB

coated pit

Inferred from direct assay PubMed 19509056. Source: UniProtKB

coated vesicle

Inferred from direct assay PubMed 19509056. Source: UniProtKB

spindle

Inferred from direct assay PubMed 19509056. Source: UniProtKB

trans-Golgi network

Inferred from direct assay PubMed 19509056. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 19478182PubMed 19509056. Source: UniProtKB

signal transducer activity

Traceable author statement Ref.3. Source: ProtInc

structural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P53675-1)

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.
Isoform 2 (identifier: P53675-2)

Also known as: Short; Muscle;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16401640Clathrin heavy chain 2
PRO_0000205786

Regions

Repeat537 – 683147CHCR 1
Repeat686 – 828143CHCR 2
Repeat833 – 972140CHCR 3
Repeat979 – 1124146CHCR 4
Repeat1128 – 1269142CHCR 5
Repeat1274 – 1420147CHCR 6
Repeat1423 – 1566144CHCR 7
Region1 – 479479Globular terminal domain
Region24 – 6744WD40-like repeat 1
Region68 – 10740WD40-like repeat 2
Region108 – 14942WD40-like repeat 3
Region150 – 19546WD40-like repeat 4
Region196 – 25762WD40-like repeat 5
Region258 – 30144WD40-like repeat 6
Region302 – 33029WD40-like repeat 7
Region449 – 46517Binding site for the uncoating ATPase, involved in lattice disassembly Potential
Region480 – 52344Flexible linker
Region524 – 16401117Heavy chain arm
Region524 – 634111Distal segment
Region639 – 16401002Proximal segment
Region1213 – 1522310Involved in binding clathrin light chain By similarity
Region1551 – 164090Trimerization By similarity

Natural variations

Alternative sequence1479 – 153557Missing in isoform 2.
VSP_001100
Natural variant611P → L.
Corresponds to variant rs3747059 [ dbSNP | Ensembl ].
VAR_055653
Natural variant2051K → R.
Corresponds to variant rs5746697 [ dbSNP | Ensembl ].
VAR_055654
Natural variant2791Y → C.
Corresponds to variant rs807459 [ dbSNP | Ensembl ].
VAR_055655
Natural variant6911E → K. Ref.3
Corresponds to variant rs1060374 [ dbSNP | Ensembl ].
VAR_055656
Natural variant9411K → R.
Corresponds to variant rs35398725 [ dbSNP | Ensembl ].
VAR_055657
Natural variant9451R → H.
Corresponds to variant rs36077768 [ dbSNP | Ensembl ].
VAR_055658
Natural variant10461R → C.
Corresponds to variant rs712952 [ dbSNP | Ensembl ].
VAR_055659
Natural variant11951N → S.
Corresponds to variant rs807547 [ dbSNP | Ensembl ].
VAR_059214
Natural variant13161M → V.
Corresponds to variant rs1061325 [ dbSNP | Ensembl ].
VAR_059215
Natural variant13941I → T.
Corresponds to variant rs1633399 [ dbSNP | Ensembl ].
VAR_059216
Natural variant15921V → M.
Corresponds to variant rs2073738 [ dbSNP | Ensembl ].
VAR_059217
Natural variant16201R → H.
Corresponds to variant rs5748024 [ dbSNP | Ensembl ].
VAR_059218

Experimental info

Sequence conflict1931P → H in AAC50494. Ref.1
Sequence conflict2151L → H in AAC50494. Ref.1
Sequence conflict3201K → T in CAA64752. Ref.2
Sequence conflict5301L → Q in AAC50494. Ref.1
Sequence conflict14741E → K in AAB40908. Ref.3
Sequence conflict14741E → K in AAB40909. Ref.3
Sequence conflict1620 – 164021RKQEE…FDGHE → PPSKRSM in AAB40908. Ref.3
Sequence conflict1620 – 164021RKQEE…FDGHE → PPSKRSM in AAB40909. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) (Brain) [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: C661E1AB989D8E7F

FASTA1,640187,030
        10         20         30         40         50         60 
MAQILPVRFQ EHFQLQNLGI NPANIGFSTL TMESDKFICI REKVGEQAQV TIIDMSDPMA 

        70         80         90        100        110        120 
PIRRPISAES AIMNPASKVI ALKAGKTLQI FNIEMKSKMK AHTMAEEVIF WKWVSVNTVA 

       130        140        150        160        170        180 
LVTETAVYHW SMEGDSQPMK MFDRHTSLVG CQVIHYRTDE YQKWLLLVGI SAQQNRVVGA 

       190        200        210        220        230        240 
MQLYSVDRKV SQPIEGHAAA FAEFKMEGNA KPATLFCFAV RNPTGGKLHI IEVGQPAAGN 

       250        260        270        280        290        300 
QPFVKKAVDV FFPPEAQNDF PVAMQIGAKH GVIYLITKYG YLHLYDLESG VCICMNRISA 

       310        320        330        340        350        360 
DTIFVTAPHK PTSGIIGVNK KGQVLSVCVE EDNIVNYATN VLQNPDLGLR LAVRSNLAGA 

       370        380        390        400        410        420 
EKLFVRKFNT LFAQGSYAEA AKVAASAPKG ILRTRETVQK FQSIPAQSGQ ASPLLQYFGI 

       430        440        450        460        470        480 
LLDQGQLNKL ESLELCHLVL QQGRKQLLEK WLKEDKLECS EELGDLVKTT DPMLALSVYL 

       490        500        510        520        530        540 
RANVPSKVIQ CFAETGQFQK IVLYAKKVGY TPDWIFLLRG VMKISPEQGL QFSRMLVQDE 

       550        560        570        580        590        600 
EPLANISQIV DIFMENSLIQ QCTSFLLDAL KNNRPAEGLL QTWLLEMNLV HAPQVADAIL 

       610        620        630        640        650        660 
GNKMFTHYDR AHIAQLCEKA GLLQQALEHY TDLYDIKRAV VHTHLLNPEW LVNFFGSLSV 

       670        680        690        700        710        720 
EDSVECLHAM LSANIRQNLQ LCVQVASKYH EQLGTQALVE LFESFKSYKG LFYFLGSIVN 

       730        740        750        760        770        780 
FSQDPDVHLK YIQAACKTGQ IKEVERICRE SSCYNPERVK NFLKEAKLTD QLPLIIVCDR 

       790        800        810        820        830        840 
FGFVHDLVLY LYRNNLQRYI EIYVQKVNPS RTPAVIGGLL DVDCSEEVIK HLIMAVRGQF 

       850        860        870        880        890        900 
STDELVAEVE KRNRLKLLLP WLESQIQEGC EEPATHNALA KIYIDSNNSP ECFLRENAYY 

       910        920        930        940        950        960 
DSSVVGRYCE KRDPHLACVA YERGQCDLEL IKVCNENSLF KSEARYLVCR KDPELWAHVL 

       970        980        990       1000       1010       1020 
EETNPSRRQL IDQVVQTALS ETRDPEEISV TVKAFMTADL PNELIELLEK IVLDNSVFSE 

      1030       1040       1050       1060       1070       1080 
HRNLQNLLIL TAIKADRTRV MEYISRLDNY DALDIASIAV SSALYEEAFT VFHKFDMNAS 

      1090       1100       1110       1120       1130       1140 
AIQVLIEHIG NLDRAYEFAE RCNEPAVWSQ LAQAQLQKDL VKEAINSYIR GDDPSSYLEV 

      1150       1160       1170       1180       1190       1200 
VQSASRSNNW EDLVKFLQMA RKKGRESYIE TELIFALAKT SRVSELEDFI NGPNNAHIQQ 

      1210       1220       1230       1240       1250       1260 
VGDRCYEEGM YEAAKLLYSN VSNFARLAST LVHLGEYQAA VDNSRKASST RTWKEVCFAC 

      1270       1280       1290       1300       1310       1320 
MDGQEFRFAQ LCGLHIVIHA DELEELMCYY QDRGYFEELI LLLEAALGLE RAHMGMFTEL 

      1330       1340       1350       1360       1370       1380 
AILYSKFKPQ KMLEHLELFW SRVNIPKVLR AAEQAHLWAE LVFLYDKYEE YDNAVLTMMS 

      1390       1400       1410       1420       1430       1440 
HPTEAWKEGQ FKDIITKVAN VELCYRALQF YLDYKPLLIN DLLLVLSPRL DHTWTVSFFS 

      1450       1460       1470       1480       1490       1500 
KAGQLPLVKP YLRSVQSHNN KSVNEALNHL LTEEEDYQGL RASIDAYDNF DNISLAQQLE 

      1510       1520       1530       1540       1550       1560 
KHQLMEFRCI AAYLYKGNNW WAQSVELCKK DHLYKDAMQH AAESRDAELA QKLLQWFLEE 

      1570       1580       1590       1600       1610       1620 
GKRECFAACL FTCYDLLRPD MVLELAWRHN LVDLAMPYFI QVMREYLSKV DKLDALESLR 

      1630       1640 
KQEEHVTEPA PLVFDFDGHE 

« Hide

Isoform 2 (Short) (Muscle) [UniParc].

Checksum: 5DB1E3D4A77607D8
Show »

FASTA1,583180,296

References

« Hide 'large scale' references
[1]"Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome."
Sirotkin H., Morrow B., Dasgupta R., Goldberg R., Patangali S.R., Shi G., Cannizzaro L., Shprintzen R., Weissman S., Kucherlapati R.
Hum. Mol. Genet. 5:617-624(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[2]"Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11."
Kedra D., Peyrard M., Fransson I., Collins J.E., Dunham I., Roe B.A., Dumanski J.P.
Hum. Mol. Genet. 5:625-631(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1451-1640 (ISOFORM 2).
Tissue: Fetal brain and Skeletal muscle.
[3]"Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL)."
Long K.R., Trofatter J.A., Ramesh V., McCormick M.K., Buckler A.J.
Genomics 35:466-472(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-691.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS46662.1. [P53675-1]
CCDS54497.1. [P53675-2]
PIRG02757.
T09522.
RefSeqNP_001826.3. NM_001835.3. [P53675-2]
NP_009029.3. NM_007098.3. [P53675-1]
UniGeneHs.368266.

3D structure databases

ProteinModelPortalP53675.
SMRP53675. Positions 1-493, 1077-1628.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113854. 13 interactions.
IntActP53675. 9 interactions.
MINTMINT-208273.
STRING9606.ENSP00000263200.

PTM databases

PhosphoSiteP53675.

Polymorphism databases

DMDM2506298.

Proteomic databases

MaxQBP53675.
PaxDbP53675.
PRIDEP53675.

Protocols and materials databases

DNASU8218.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263200; ENSP00000445677; ENSG00000070371. [P53675-1]
ENST00000353891; ENSP00000439662; ENSG00000070371. [P53675-2]
ENST00000427926; ENSP00000441158; ENSG00000070371. [P53675-1]
GeneID8218.
KEGGhsa:8218.
UCSCuc011agw.1. human. [P53675-1]
uc021wld.1. human. [P53675-2]

Organism-specific databases

CTD8218.
GeneCardsGC22M019171.
H-InvDBHIX0016234.
HGNCHGNC:2093. CLTCL1.
HPAHPA041110.
MIM601273. gene.
neXtProtNX_P53675.
PharmGKBPA26619.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314149.
HOGENOMHOG000188877.
HOVERGENHBG005344.
InParanoidP53675.
KOK04646.
OMAQRCYEEG.
OrthoDBEOG7Z0JVM.
PhylomeDBP53675.
TreeFamTF300059.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.

Gene expression databases

ArrayExpressP53675.
BgeeP53675.
CleanExHS_CLTCL1.
GenevestigatorP53675.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
2.130.10.110. 1 hit.
InterProIPR016024. ARM-type_fold.
IPR000547. Clathrin_H-chain/VPS_repeat.
IPR016025. Clathrin_H-chain_link/propller.
IPR015348. Clathrin_H-chain_linker_core.
IPR001473. Clathrin_H-chain_propeller_N.
IPR022365. Clathrin_H-chain_propeller_rpt.
IPR016341. Clathrin_heavy_chain.
IPR011990. TPR-like_helical.
[Graphical view]
PfamPF00637. Clathrin. 7 hits.
PF09268. Clathrin-link. 1 hit.
PF01394. Clathrin_propel. 2 hits.
[Graphical view]
PIRSFPIRSF002290. Clathrin_H_chain. 1 hit.
SMARTSM00299. CLH. 7 hits.
[Graphical view]
SUPFAMSSF48371. SSF48371. 6 hits.
SSF50989. SSF50989. 1 hit.
PROSITEPS50236. CHCR. 7 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCLTCL1. human.
GenomeRNAi8218.
NextBio30943.
PROP53675.
SOURCESearch...

Entry information

Entry nameCLH2_HUMAN
AccessionPrimary (citable) accession number: P53675
Secondary accession number(s): B7Z7U5 expand/collapse secondary AC list , Q14017, Q15808, Q15809
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 1, 1997
Last modified: July 9, 2014
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM