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Q8NHS4

- CLHC1_HUMAN

UniProt

Q8NHS4 - CLHC1_HUMAN

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
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    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

    ArrayExpressiQ8NHS4.
    BgeeiQ8NHS4.
    CleanExiHS_C2orf63.
    GenevestigatoriQ8NHS4.

    Organism-specific databases

    HPAiHPA045418.

    Interactioni

    Protein-protein interaction databases

    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.
    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

    MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY    50
    IIYRNVFDKV IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK 100
    GLAAEPTALV YYRKRTIQLE AKMRIIESNS SKIQSQIDHI KQCRAEYDTK 150
    EVKYCTFSKD PSKPIPGMTL QESMNLDALT KYMKHLEDKY AEIKQAMLIK 200
    YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI ISQALSSWVK 250
    SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER 300
    FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF 350
    FEALFITSHA FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE 400
    AGDVICDYGE QDTYNKAKCL ALAQIVYSEC GLHKKAILCL CKQGQTHRVM 450
    EYIQQLKDFT TDDLLQLLMS CPQVELIQCL TKELNEKQPS LSFGLAILHL 500
    FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ EVANICSQNG 550
    FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW 586
    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

    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.
    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

    ArrayExpressi Q8NHS4.
    Bgeei Q8NHS4.
    CleanExi HS_C2orf63.
    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 1, 2014
    This is version 80 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