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Q8NHS4

- CLHC1_HUMAN

UniProt

Q8NHS4 - CLHC1_HUMAN

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Protein

Clathrin heavy chain linker domain-containing protein 1

Gene

CLHC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Clathrin heavy chain linker domain-containing protein 1
Gene namesi
Name:CLHC1
Synonyms:C2orf63
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26453. CLHC1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162379359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 586586Clathrin heavy chain linker domain-containing protein 1PRO_0000325870Add
BLAST

Proteomic databases

PaxDbiQ8NHS4.
PRIDEiQ8NHS4.

PTM databases

PhosphoSiteiQ8NHS4.

Expressioni

Gene expression databases

BgeeiQ8NHS4.
CleanExiHS_C2orf63.
ExpressionAtlasiQ8NHS4. baseline and differential.
GenevestigatoriQ8NHS4.

Organism-specific databases

HPAiHPA045418.

Interactioni

Protein-protein interaction databases

BioGridi126226. 1 interaction.
STRINGi9606.ENSP00000295110.

Structurei

3D structure databases

ProteinModelPortaliQ8NHS4.
SMRiQ8NHS4. Positions 297-440.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili174 – 23259Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG304835.
GeneTreeiENSGT00390000016690.
HOGENOMiHOG000060111.
HOVERGENiHBG107579.
InParanoidiQ8NHS4.
OMAiCKQGQIH.
OrthoDBiEOG76QFGW.
PhylomeDBiQ8NHS4.
TreeFamiTF328858.

Family and domain databases

Gene3Di1.25.40.30. 2 hits.
InterProiIPR016024. ARM-type_fold.
IPR012331. Clathrin_H-chain_linker.
IPR017212. Clathrin_heavy-chain-rel.
[Graphical view]
PIRSFiPIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NHS4-1) [UniParc]FASTAAdd to Basket

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
MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY
60 70 80 90 100
IIYRNVFDKV IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK
110 120 130 140 150
GLAAEPTALV YYRKRTIQLE AKMRIIESNS SKIQSQIDHI KQCRAEYDTK
160 170 180 190 200
EVKYCTFSKD PSKPIPGMTL QESMNLDALT KYMKHLEDKY AEIKQAMLIK
210 220 230 240 250
YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI ISQALSSWVK
260 270 280 290 300
SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER
310 320 330 340 350
FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF
360 370 380 390 400
FEALFITSHA FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE
410 420 430 440 450
AGDVICDYGE QDTYNKAKCL ALAQIVYSEC GLHKKAILCL CKQGQTHRVM
460 470 480 490 500
EYIQQLKDFT TDDLLQLLMS CPQVELIQCL TKELNEKQPS LSFGLAILHL
510 520 530 540 550
FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ EVANICSQNG
560 570 580
FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW
Length:586
Mass (Da):67,250
Last modified:January 11, 2011 - v3
Checksum:i52458D0C3B64468E
GO
Isoform 2 (identifier: Q8NHS4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.

Note: No experimental confirmation available.

Show »
Length:464
Mass (Da):52,984
Checksum:i61E2184AA48E341C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781A → V.2 Publications
Corresponds to variant rs9677948 [ dbSNP | Ensembl ].
VAR_039944
Natural varianti426 – 4261V → I.2 Publications
Corresponds to variant rs6716066 [ dbSNP | Ensembl ].
VAR_039945
Natural varianti503 – 5031A → V.1 Publication
Corresponds to variant rs14026 [ dbSNP | Ensembl ].
VAR_039946
Natural varianti552 – 5521D → Y.
Corresponds to variant rs3186099 [ dbSNP | Ensembl ].
VAR_039947

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 122122Missing in isoform 2. 1 PublicationVSP_032461Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS33201.1. [Q8NHS4-1]
CCDS46287.1. [Q8NHS4-2]
RefSeqiNP_001129070.1. NM_001135598.1. [Q8NHS4-2]
NP_689598.2. NM_152385.2. [Q8NHS4-1]
XP_005264193.1. XM_005264136.2. [Q8NHS4-1]
UniGeneiHs.347014.

Genome annotation databases

EnsembliENST00000401408; ENSP00000384869; ENSG00000162994. [Q8NHS4-1]
ENST00000406076; ENSP00000385512; ENSG00000162994. [Q8NHS4-2]
ENST00000407122; ENSP00000385778; ENSG00000162994. [Q8NHS4-1]
GeneIDi130162.
KEGGihsa:130162.
UCSCiuc002ryi.2. human. [Q8NHS4-1]

Polymorphism databases

DMDMi317373465.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS33201.1. [Q8NHS4-1 ]
CCDS46287.1. [Q8NHS4-2 ]
RefSeqi NP_001129070.1. NM_001135598.1. [Q8NHS4-2 ]
NP_689598.2. NM_152385.2. [Q8NHS4-1 ]
XP_005264193.1. XM_005264136.2. [Q8NHS4-1 ]
UniGenei Hs.347014.

3D structure databases

ProteinModelPortali Q8NHS4.
SMRi Q8NHS4. Positions 297-440.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126226. 1 interaction.
STRINGi 9606.ENSP00000295110.

PTM databases

PhosphoSitei Q8NHS4.

Polymorphism databases

DMDMi 317373465.

Proteomic databases

PaxDbi Q8NHS4.
PRIDEi Q8NHS4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000401408 ; ENSP00000384869 ; ENSG00000162994 . [Q8NHS4-1 ]
ENST00000406076 ; ENSP00000385512 ; ENSG00000162994 . [Q8NHS4-2 ]
ENST00000407122 ; ENSP00000385778 ; ENSG00000162994 . [Q8NHS4-1 ]
GeneIDi 130162.
KEGGi hsa:130162.
UCSCi uc002ryi.2. human. [Q8NHS4-1 ]

Organism-specific databases

CTDi 130162.
GeneCardsi GC02M055400.
HGNCi HGNC:26453. CLHC1.
HPAi HPA045418.
neXtProti NX_Q8NHS4.
PharmGKBi PA162379359.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG304835.
GeneTreei ENSGT00390000016690.
HOGENOMi HOG000060111.
HOVERGENi HBG107579.
InParanoidi Q8NHS4.
OMAi CKQGQIH.
OrthoDBi EOG76QFGW.
PhylomeDBi Q8NHS4.
TreeFami TF328858.

Miscellaneous databases

GenomeRNAii 130162.
NextBioi 82716.
PROi Q8NHS4.

Gene expression databases

Bgeei Q8NHS4.
CleanExi HS_C2orf63.
ExpressionAtlasi Q8NHS4. baseline and differential.
Genevestigatori Q8NHS4.

Family and domain databases

Gene3Di 1.25.40.30. 2 hits.
InterProi IPR016024. ARM-type_fold.
IPR012331. Clathrin_H-chain_linker.
IPR017212. Clathrin_heavy-chain-rel.
[Graphical view ]
PIRSFi PIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAMi SSF48371. SSF48371. 1 hit.
ProtoNeti Search...

Publicationsi

  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.
    , 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.
    , 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.

Entry informationi

Entry nameiCLHC1_HUMAN
AccessioniPrimary (citable) accession number: Q8NHS4
Secondary accession number(s): B2RDV1, Q53R93, Q8N403
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 81 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3