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Q9NY35

- CLDN1_HUMAN

UniProt

Q9NY35 - CLDN1_HUMAN

Protein

Claudin domain-containing protein 1

Gene

CLDND1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Protein family/group databases

    TCDBi8.A.16.2.9. the ca(+) channel auxiliary subunit 1-8 (cca) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Claudin domain-containing protein 1
    Alternative name(s):
    Membrane protein GENX-3745
    Gene namesi
    Name:CLDND1
    Synonyms:C3orf4
    ORF Names:HSPC174, PSEC0054, UNQ2511/PRO6000
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:1322. CLDND1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25901.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 253253Claudin domain-containing protein 1PRO_0000164694Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi42 – 421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi72 – 721N-linked (GlcNAc...)1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9NY35.
    PaxDbiQ9NY35.
    PRIDEiQ9NY35.

    PTM databases

    PhosphoSiteiQ9NY35.

    Expressioni

    Tissue specificityi

    Widely distributed in the adult CNS with highest expression in the corpus callosum, caudate nucleus, cerebral cortex, medulla, putamen, spinal cord, substantia nigra and subthalamic nucleus. Weak expression was detected in the adult heart.

    Gene expression databases

    ArrayExpressiQ9NY35.
    BgeeiQ9NY35.
    CleanExiHS_CLDND1.
    GenevestigatoriQ9NY35.

    Organism-specific databases

    HPAiHPA029841.
    HPA029842.

    Interactioni

    Protein-protein interaction databases

    BioGridi121164. 1 interaction.
    IntActiQ9NY35. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NY35.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5 – 2521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei175 – 19521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei216 – 23621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the PMP-22/EMP/MP20 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG46479.
    HOVERGENiHBG050817.
    InParanoidiQ9NY35.
    PhylomeDBiQ9NY35.

    Family and domain databases

    InterProiIPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view]
    PfamiPF13903. Claudin_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NY35-1) [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

    MDNRFATAFV IACVLSLIST IYMAASIGTD FWYEYRSPVQ ENSSDLNKSI    50
    WDEFISDEAD EKTYNDALFR YNGTVGLWRR CITIPKNMHW YSPPERTESF 100
    DVVTKCVSFT LTEQFMEKFV DPGNHNSGID LLRTYLWRCQ FLLPFVSLGL 150
    MCFGALIGLC ACICRSLYPT IATGILHLLA GLCTLGSVSC YVAGIELLHQ 200
    KLELPDNVSG EFGWSFCLAC VSAPLQFMAS ALFIWAAHTN RKEYTLMKAY 250
    RVA 253
    Length:253
    Mass (Da):28,603
    Last modified:October 1, 2000 - v1
    Checksum:iC6459D23B28C9885
    GO
    Isoform 2 (identifier: Q9NY35-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         181-184: GLCT → DTML
         185-253: Missing.

    Show »
    Length:184
    Mass (Da):21,052
    Checksum:i21A8DF0C4229E8E4
    GO
    Isoform 3 (identifier: Q9NY35-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: MDNRFATAFV...MHWYSPPERT → MG

    Note: No experimental confirmation available.

    Show »
    Length:158
    Mass (Da):17,464
    Checksum:iAF5B09A3C83F1231
    GO

    Sequence cautioni

    The sequence AAF29137.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti213 – 2131G → E in AAF29137. (PubMed:11042152)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797MDNRF…PPERT → MG in isoform 3. 1 PublicationVSP_046865Add
    BLAST
    Alternative sequencei181 – 1844GLCT → DTML in isoform 2. 1 PublicationVSP_013156
    Alternative sequencei185 – 25369Missing in isoform 2. 1 PublicationVSP_013157Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ270952 mRNA. Translation: CAB89684.1.
    AF161522 mRNA. Translation: AAF29137.1. Different initiation.
    AV656305 mRNA. No translation available.
    AY359121 mRNA. Translation: AAQ89479.1.
    AK075367 mRNA. Translation: BAG52123.1.
    AL080097 mRNA. Translation: CAB45709.2.
    AC021660 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79856.1.
    CH471052 Genomic DNA. Translation: EAW79857.1.
    CH471052 Genomic DNA. Translation: EAW79859.1.
    CH471052 Genomic DNA. Translation: EAW79860.1.
    BC001757 mRNA. Translation: AAH01757.2.
    BC013610 mRNA. Translation: AAH13610.1.
    BC022551 mRNA. Translation: AAH22551.1.
    BC095441 mRNA. Translation: AAH95441.1.
    CCDSiCCDS2930.1. [Q9NY35-1]
    CCDS43116.1. [Q9NY35-3]
    RefSeqiNP_001035271.1. NM_001040181.1. [Q9NY35-1]
    NP_001035272.1. NM_001040182.1.
    NP_001035273.1. NM_001040183.1. [Q9NY35-1]
    NP_001035289.1. NM_001040199.1. [Q9NY35-1]
    NP_001035290.1. NM_001040200.1. [Q9NY35-3]
    NP_063948.1. NM_019895.2. [Q9NY35-1]
    UniGeneiHs.531371.
    Hs.720106.

    Genome annotation databases

    EnsembliENST00000341181; ENSP00000340247; ENSG00000080822. [Q9NY35-1]
    ENST00000394180; ENSP00000377734; ENSG00000080822. [Q9NY35-1]
    ENST00000394181; ENSP00000377735; ENSG00000080822. [Q9NY35-1]
    ENST00000394185; ENSP00000377739; ENSG00000080822. [Q9NY35-1]
    ENST00000503004; ENSP00000421226; ENSG00000080822. [Q9NY35-1]
    ENST00000510545; ENSP00000423590; ENSG00000080822. [Q9NY35-1]
    ENST00000511081; ENSP00000424669; ENSG00000080822. [Q9NY35-3]
    ENST00000513287; ENSP00000426869; ENSG00000080822. [Q9NY35-1]
    GeneIDi56650.
    KEGGihsa:56650.
    UCSCiuc003dso.2. human. [Q9NY35-2]
    uc003dsp.3. human. [Q9NY35-1]

    Polymorphism databases

    DMDMi20532022.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ270952 mRNA. Translation: CAB89684.1 .
    AF161522 mRNA. Translation: AAF29137.1 . Different initiation.
    AV656305 mRNA. No translation available.
    AY359121 mRNA. Translation: AAQ89479.1 .
    AK075367 mRNA. Translation: BAG52123.1 .
    AL080097 mRNA. Translation: CAB45709.2 .
    AC021660 Genomic DNA. No translation available.
    CH471052 Genomic DNA. Translation: EAW79856.1 .
    CH471052 Genomic DNA. Translation: EAW79857.1 .
    CH471052 Genomic DNA. Translation: EAW79859.1 .
    CH471052 Genomic DNA. Translation: EAW79860.1 .
    BC001757 mRNA. Translation: AAH01757.2 .
    BC013610 mRNA. Translation: AAH13610.1 .
    BC022551 mRNA. Translation: AAH22551.1 .
    BC095441 mRNA. Translation: AAH95441.1 .
    CCDSi CCDS2930.1. [Q9NY35-1 ]
    CCDS43116.1. [Q9NY35-3 ]
    RefSeqi NP_001035271.1. NM_001040181.1. [Q9NY35-1 ]
    NP_001035272.1. NM_001040182.1.
    NP_001035273.1. NM_001040183.1. [Q9NY35-1 ]
    NP_001035289.1. NM_001040199.1. [Q9NY35-1 ]
    NP_001035290.1. NM_001040200.1. [Q9NY35-3 ]
    NP_063948.1. NM_019895.2. [Q9NY35-1 ]
    UniGenei Hs.531371.
    Hs.720106.

    3D structure databases

    ProteinModelPortali Q9NY35.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121164. 1 interaction.
    IntActi Q9NY35. 1 interaction.

    Protein family/group databases

    TCDBi 8.A.16.2.9. the ca(+) channel auxiliary subunit 1-8 (cca) family.

    PTM databases

    PhosphoSitei Q9NY35.

    Polymorphism databases

    DMDMi 20532022.

    Proteomic databases

    MaxQBi Q9NY35.
    PaxDbi Q9NY35.
    PRIDEi Q9NY35.

    Protocols and materials databases

    DNASUi 56650.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341181 ; ENSP00000340247 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000394180 ; ENSP00000377734 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000394181 ; ENSP00000377735 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000394185 ; ENSP00000377739 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000503004 ; ENSP00000421226 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000510545 ; ENSP00000423590 ; ENSG00000080822 . [Q9NY35-1 ]
    ENST00000511081 ; ENSP00000424669 ; ENSG00000080822 . [Q9NY35-3 ]
    ENST00000513287 ; ENSP00000426869 ; ENSG00000080822 . [Q9NY35-1 ]
    GeneIDi 56650.
    KEGGi hsa:56650.
    UCSCi uc003dso.2. human. [Q9NY35-2 ]
    uc003dsp.3. human. [Q9NY35-1 ]

    Organism-specific databases

    CTDi 56650.
    GeneCardsi GC03M098234.
    HGNCi HGNC:1322. CLDND1.
    HPAi HPA029841.
    HPA029842.
    neXtProti NX_Q9NY35.
    PharmGKBi PA25901.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46479.
    HOVERGENi HBG050817.
    InParanoidi Q9NY35.
    PhylomeDBi Q9NY35.

    Miscellaneous databases

    ChiTaRSi CLDND1. human.
    GeneWikii CLDND1.
    GenomeRNAii 56650.
    NextBioi 62095.
    PROi Q9NY35.

    Gene expression databases

    ArrayExpressi Q9NY35.
    Bgeei Q9NY35.
    CleanExi HS_CLDND1.
    Genevestigatori Q9NY35.

    Family and domain databases

    InterProi IPR004031. PMP22/EMP/MP20/Claudin.
    [Graphical view ]
    Pfami PF13903. Claudin_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of tissue expression and full-length coding sequence of a novel human gene mapping at 3q12.1 and transcribed in oligodendrocytes."
      Fayein N.-A., Stankoff B., Auffray C., Devignes M.-D.
      Gene 289:119-129(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY (ISOFORM 1).
      Tissue: Brain.
    2. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
      Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
      , Gu J., Chen S.-J., Chen Z.
      Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Umbilical cord blood.
    3. "Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver."
      Xu X.R., Huang J., Xu Z.G., Qian B.Z., Zhu Z.D., Yan Q., Cai T., Zhang X., Xiao H.S., Qu J., Liu F., Huang Q.H., Cheng Z.H., Li N.G., Du J.J., Hu W., Shen K.T., Lu G.
      , Fu G., Zhong M., Xu S.H., Gu W.Y., Huang W., Zhao X.T., Hu G.X., Gu J.R., Chen Z., Han Z.G.
      Proc. Natl. Acad. Sci. U.S.A. 98:15089-15094(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
      Tissue: Liver.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Teratocarcinoma.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    7. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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] (ISOFORM 1).
      Tissue: Brain, Eye, Hippocampus and Spinal cord.
    10. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
      Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-72.
      Tissue: Leukemic T-cell.

    Entry informationi

    Entry nameiCLDN1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NY35
    Secondary accession number(s): B3KQR1
    , D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NZZ5, Q9Y4S9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2002
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 113 of the entry and version 1 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 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3