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Q9NY35 (CLDN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Claudin domain-containing protein 1
Alternative name(s):
Membrane protein GENX-3745
Gene names
Name:CLDND1
Synonyms:C3orf4
ORF Names:HSPC174, PSEC0054, UNQ2511/PRO6000
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length253 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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. Ref.1

Sequence similarities

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

Sequence caution

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

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NY35-1)

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: Q9NY35-2)

The sequence of this isoform differs from the canonical sequence as follows:
     181-184: GLCT → DTML
     185-253: Missing.
Isoform 3 (identifier: Q9NY35-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: MDNRFATAFV...MHWYSPPERT → MG
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 253253Claudin domain-containing protein 1
PRO_0000164694

Regions

Transmembrane5 – 2521Helical; Potential
Transmembrane141 – 16121Helical; Potential
Transmembrane175 – 19521Helical; Potential
Transmembrane216 – 23621Helical; Potential

Amino acid modifications

Glycosylation421N-linked (GlcNAc...) Potential
Glycosylation721N-linked (GlcNAc...) Ref.10

Natural variations

Alternative sequence1 – 9797MDNRF…PPERT → MG in isoform 3.
VSP_046865
Alternative sequence181 – 1844GLCT → DTML in isoform 2.
VSP_013156
Alternative sequence185 – 25369Missing in isoform 2.
VSP_013157

Experimental info

Sequence conflict2131G → E in AAF29137. Ref.2

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: C6459D23B28C9885

FASTA25328,603
        10         20         30         40         50         60 
MDNRFATAFV IACVLSLIST IYMAASIGTD FWYEYRSPVQ ENSSDLNKSI WDEFISDEAD 

        70         80         90        100        110        120 
EKTYNDALFR YNGTVGLWRR CITIPKNMHW YSPPERTESF DVVTKCVSFT LTEQFMEKFV 

       130        140        150        160        170        180 
DPGNHNSGID LLRTYLWRCQ FLLPFVSLGL MCFGALIGLC ACICRSLYPT IATGILHLLA 

       190        200        210        220        230        240 
GLCTLGSVSC YVAGIELLHQ KLELPDNVSG EFGWSFCLAC VSAPLQFMAS ALFIWAAHTN 

       250 
RKEYTLMKAY RVA 

« Hide

Isoform 2 [UniParc].

Checksum: 21A8DF0C4229E8E4
Show »

FASTA18421,052
Isoform 3 [UniParc].

Checksum: AF5B09A3C83F1231
Show »

FASTA15817,464

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS2930.1. [Q9NY35-1]
CCDS43116.1. [Q9NY35-3]
RefSeqNP_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]
UniGeneHs.531371.
Hs.720106.

3D structure databases

ProteinModelPortalQ9NY35.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121164. 1 interaction.
IntActQ9NY35. 1 interaction.

Protein family/group databases

TCDB8.A.16.2.9. the ca(+) channel auxiliary subunit 1-8 (cca) family.

PTM databases

PhosphoSiteQ9NY35.

Polymorphism databases

DMDM20532022.

Proteomic databases

MaxQBQ9NY35.
PaxDbQ9NY35.
PRIDEQ9NY35.

Protocols and materials databases

DNASU56650.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000341181; 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]
GeneID56650.
KEGGhsa:56650.
UCSCuc003dso.2. human. [Q9NY35-2]
uc003dsp.3. human. [Q9NY35-1]

Organism-specific databases

CTD56650.
GeneCardsGC03M098234.
HGNCHGNC:1322. CLDND1.
HPAHPA029841.
HPA029842.
neXtProtNX_Q9NY35.
PharmGKBPA25901.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46479.
HOVERGENHBG050817.
InParanoidQ9NY35.
PhylomeDBQ9NY35.

Gene expression databases

ArrayExpressQ9NY35.
BgeeQ9NY35.
CleanExHS_CLDND1.
GenevestigatorQ9NY35.

Family and domain databases

InterProIPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PfamPF13903. Claudin_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCLDND1. human.
GeneWikiCLDND1.
GenomeRNAi56650.
NextBio62095.
PROQ9NY35.

Entry information

Entry nameCLDN1_HUMAN
AccessionPrimary (citable) accession number: Q9NY35
Secondary accession number(s): B3KQR1 expand/collapse secondary AC list , D3DN36, F2Z2D9, Q502Y8, Q6UVX2, Q9BUZ9, Q9NZZ5, Q9Y4S9
Entry history
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 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

SIMILARITY comments

Index of protein domains and families

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM