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Q8NHS4 (CLHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Clathrin heavy chain linker domain-containing protein 1
Gene names
Name:CLHC1
Synonyms:C2orf63
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length586 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NHS4-1)

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: Q8NHS4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 586586Clathrin heavy chain linker domain-containing protein 1
PRO_0000325870

Regions

Coiled coil174 – 23259 Potential

Natural variations

Alternative sequence1 – 122122Missing in isoform 2.
VSP_032461
Natural variant1781A → V. Ref.1 Ref.3
Corresponds to variant rs9677948 [ dbSNP | Ensembl ].
VAR_039944
Natural variant4261V → I. Ref.1 Ref.3
Corresponds to variant rs6716066 [ dbSNP | Ensembl ].
VAR_039945
Natural variant5031A → V. Ref.3
Corresponds to variant rs14026 [ dbSNP | Ensembl ].
VAR_039946
Natural variant5521D → Y.
Corresponds to variant rs3186099 [ dbSNP | Ensembl ].
VAR_039947

Sequences

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

Last modified January 11, 2011. Version 3.
Checksum: 52458D0C3B64468E

FASTA58667,250
        10         20         30         40         50         60 
MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY IIYRNVFDKV 

        70         80         90        100        110        120 
IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK GLAAEPTALV YYRKRTIQLE 

       130        140        150        160        170        180 
AKMRIIESNS SKIQSQIDHI KQCRAEYDTK EVKYCTFSKD PSKPIPGMTL QESMNLDALT 

       190        200        210        220        230        240 
KYMKHLEDKY AEIKQAMLIK YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI 

       250        260        270        280        290        300 
ISQALSSWVK SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER 

       310        320        330        340        350        360 
FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF FEALFITSHA 

       370        380        390        400        410        420 
FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE AGDVICDYGE QDTYNKAKCL 

       430        440        450        460        470        480 
ALAQIVYSEC GLHKKAILCL CKQGQTHRVM EYIQQLKDFT TDDLLQLLMS CPQVELIQCL 

       490        500        510        520        530        540 
TKELNEKQPS LSFGLAILHL FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ 

       550        560        570        580 
EVANICSQNG FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW 

« Hide

Isoform 2 [UniParc].

Checksum: 61E2184AA48E341C
Show »

FASTA46452,984

References

[1]"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 1), VARIANTS VAL-178 AND ILE-426.
Tissue: Testis.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS VAL-178; ILE-426 AND VAL-503.
Tissue: Brain and Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK315683 mRNA. Translation: BAG38048.1.
AC012358 Genomic DNA. No translation available.
AC093165 Genomic DNA. Translation: AAY24030.1.
BC029502 mRNA. Translation: AAH29502.1.
BC036908 mRNA. Translation: AAH36908.1.
RefSeqNP_001129070.1. NM_001135598.1.
NP_689598.2. NM_152385.2.
XP_005264193.1. XM_005264136.2.
UniGeneHs.347014.

3D structure databases

ProteinModelPortalQ8NHS4.
SMRQ8NHS4. Positions 297-440.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000295110.

PTM databases

PhosphoSiteQ8NHS4.

Polymorphism databases

DMDM317373465.

Proteomic databases

PaxDbQ8NHS4.
PRIDEQ8NHS4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000401408; ENSP00000384869; ENSG00000162994. [Q8NHS4-1]
ENST00000406076; ENSP00000385512; ENSG00000162994. [Q8NHS4-2]
ENST00000407122; ENSP00000385778; ENSG00000162994. [Q8NHS4-1]
GeneID130162.
KEGGhsa:130162.
UCSCuc002ryi.2. human. [Q8NHS4-1]

Organism-specific databases

CTD130162.
GeneCardsGC02M055400.
HGNCHGNC:26453. CLHC1.
HPAHPA045418.
neXtProtNX_Q8NHS4.
PharmGKBPA162379359.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG304835.
HOGENOMHOG000060111.
HOVERGENHBG107579.
InParanoidQ8NHS4.
OMACKQGQIH.
OrthoDBEOG76QFGW.
PhylomeDBQ8NHS4.
TreeFamTF328858.

Gene expression databases

ArrayExpressQ8NHS4.
BgeeQ8NHS4.
CleanExHS_C2orf63.
GenevestigatorQ8NHS4.

Family and domain databases

Gene3D1.25.40.30. 2 hits.
InterProIPR016024. ARM-type_fold.
IPR012331. Clathrin_H-chain_linker.
IPR017212. Clathrin_heavy-chain-rel.
[Graphical view]
PIRSFPIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAMSSF48371. SSF48371. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi130162.
NextBio82716.
PROQ8NHS4.

Entry information

Entry nameCLHC1_HUMAN
AccessionPrimary (citable) accession number: Q8NHS4
Secondary accession number(s): B2RDV1, Q53R93, Q8N403
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 77 of the entry and version 3 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

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 2

Human chromosome 2: entries, gene names and cross-references to MIM