Q9NY35 (CLDN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	253 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 253	253	Claudin domain-containing protein 1		PRO_0000164694
Regions
	Transmembrane	5 – 25	21	Helical; Potential
	Transmembrane	141 – 161	21	Helical; Potential
	Transmembrane	175 – 195	21	Helical; Potential
	Transmembrane	216 – 236	21	Helical; Potential
Amino acid modifications
	Glycosylation	42	1	N-linked (GlcNAc...) Potential
	Glycosylation	72	1	N-linked (GlcNAc...) Ref.8
Natural variations
	Alternative sequence	181 – 184	4	GLCT → DTML in isoform 2.		VSP_013156
	Alternative sequence	185 – 253	69	Missing in isoform 2.		VSP_013157
Experimental info
	Sequence conflict	213	1	G → E in AAF29137. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: C6459D23B28C9885	FASTA	253	28,603
	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
	Isoform 2 [UniParc]. Checksum: 21A8DF0C4229E8E4	FASTA	184	21,052
	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 DTML

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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).
[4]	"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.
[5]	"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.
[6]	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. , 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].
[7]	"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.
[8]	"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, MASS SPECTROMETRY. 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. AY359121 mRNA. Translation: AAQ89479.1. AK075367 mRNA. Translation: BAG52123.1. AL080097 mRNA. Translation: CAB45709.2. 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.
IPI	IPI00072743. IPI00965601.
RefSeq	NP_001035271.1. NM_001040181.1. NP_001035272.1. NM_001040182.1. NP_001035273.1. NM_001040183.1. NP_001035289.1. NM_001040199.1. NP_063948.1. NM_019895.2.
UniGene	Hs.531371. Hs.720106.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NY35. 1 interaction.
PTM databases
PhosphoSite	Q9NY35.
Polymorphism databases
DMDM	20532022.
Proteomic databases
PaxDb	Q9NY35.
PRIDE	Q9NY35.
Protocols and materials databases
DNASU	56650.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341181; ENSP00000340247; ENSG00000080822. ENST00000394180; ENSP00000377734; ENSG00000080822. ENST00000394181; ENSP00000377735; ENSG00000080822. ENST00000394185; ENSP00000377739; ENSG00000080822. ENST00000503004; ENSP00000421226; ENSG00000080822. ENST00000510545; ENSP00000423590; ENSG00000080822. ENST00000513287; ENSP00000426869; ENSG00000080822.
GeneID	56650.
KEGG	hsa:56650.
UCSC	uc003dso.2. human. uc003dsp.3. human.
Organism-specific databases
CTD	56650.
GeneCards	GC03M098234.
HGNC	HGNC:1322. CLDND1.
HPA	HPA029841. HPA029842.
neXtProt	NX_Q9NY35.
PharmGKB	PA25901.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG46479.
HOVERGEN	HBG050817.
InParanoid	Q9NY35.
PhylomeDB	Q9NY35.
Gene expression databases
ArrayExpress	Q9NY35.
Bgee	Q9NY35.
CleanEx	HS_CLDND1.
Genevestigator	Q9NY35.
GermOnline	ENSG00000080822. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CLDND1. human.
GenomeRNAi	56650.
NextBio	62095.

Entry information

Entry name

CLDN1_HUMAN

Accession

Primary (citable) accession number: Q9NY35
Secondary accession number(s): B3KQR1 , D3DN36, Q502Y8, Q6UVX2, Q9BUZ9, Q9NZZ5, Q9Y4S9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2002
Last sequence update:	October 1, 2000
Last modified:	April 3, 2013
This is version 101 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.