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Q9NY35

- CLDN1_HUMAN

UniProt

Q9NY35 - CLDN1_HUMAN

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Protein

Claudin domain-containing protein 1

Gene
CLDND1, C3orf4, HSPC174, PSEC0054, UNQ2511/PRO6000
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei5 – 2521Helical; Reviewed predictionAdd
BLAST
Transmembranei141 – 16121Helical; Reviewed predictionAdd
BLAST
Transmembranei175 – 19521Helical; Reviewed predictionAdd
BLAST
Transmembranei216 – 23621Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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...) Reviewed prediction
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.1 Publication

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.

Family & Domainsi

Sequence similaritiesi

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

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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9797MDNRF…PPERT → MG in isoform 3. VSP_046865Add
BLAST
Alternative sequencei181 – 1844GLCT → DTML in isoform 2. VSP_013156
Alternative sequencei185 – 25369Missing in isoform 2. VSP_013157Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti213 – 2131G → E in AAF29137. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 112 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

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