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Q9UN73 (PCDA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 123. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Protocadherin alpha-6

Short name=PCDH-alpha-6
Gene names
Name:PCDHA6
Synonyms:CNRS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length950 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Subcellular location

Isoform 1: Cell membrane; Single-pass type I membrane protein By similarity.

Isoform 2: Secreted Potential.

Sequence similarities

Contains 6 cadherin domains.

Sequence caution

The sequence AAF89691.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9UN73-1)

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: Q9UN73-2)

The sequence of this isoform differs from the canonical sequence as follows:
     535-798: Missing.
Isoform 3 (identifier: Q9UN73-3)

The sequence of this isoform differs from the canonical sequence as follows:
     799-803: PRQPN → VSEFS
     804-950: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Chain30 – 950921Protocadherin alpha-6
PRO_0000003894

Regions

Topological domain30 – 697668Extracellular Potential
Transmembrane698 – 71821Helical; Potential
Topological domain719 – 950232Cytoplasmic Potential
Domain34 – 133100Cadherin 1
Domain157 – 24286Cadherin 2
Domain243 – 350108Cadherin 3
Domain351 – 455105Cadherin 4
Domain456 – 565110Cadherin 5
Domain581 – 67898Cadherin 6
Repeat799 – 8024PXXP 1
Repeat832 – 8354PXXP 2
Repeat873 – 8764PXXP 3
Repeat891 – 8944PXXP 4
Region799 – 894964 X 4 AA repeats of P-X-X-P
Compositional bias923 – 9308Poly-Lys

Amino acid modifications

Glycosylation2571N-linked (GlcNAc...) Potential
Glycosylation2651N-linked (GlcNAc...) Potential
Glycosylation3861N-linked (GlcNAc...) Potential
Glycosylation5481N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence535 – 798264Missing in isoform 2.
VSP_000681
Alternative sequence799 – 8035PRQPN → VSEFS in isoform 3.
VSP_000682
Alternative sequence804 – 950147Missing in isoform 3.
VSP_000683
Natural variant5851L → V.
Corresponds to variant rs60309716 [ dbSNP | Ensembl ].
VAR_061061

Sequences

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

Last modified May 1, 2000. Version 1.
Checksum: 894B97B9737C52B9

FASTA950102,716
        10         20         30         40         50         60 
MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV 

        70         80         90        100        110        120 
PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD 

       130        140        150        160        170        180 
VEVRDINDNP PLFPVEEQRV LIYESRLPDS VFPLEGASDA DVGSNSILTY KLSSSEYFGL 

       190        200        210        220        230        240 
DVKINSDDNK QIGLLLKKSL DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP 

       250        260        270        280        290        300 
TFEQSEYEVR IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG 

       310        320        330        340        350        360 
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR 

       370        380        390        400        410        420 
EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA 

       430        440        450        460        470        480 
YELVVTARDG GSPSLWATAS LSVEVADMND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR 

       490        500        510        520        530        540 
DADAQENALV SYSLVERRVG ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQVSARDA 

       550        560        570        580        590        600 
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTGGAVSEL VPRSLGAGQV VAKVRAVDAD 

       610        620        630        640        650        660 
SGYNAWLSYE LQPPASSARF PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT 

       670        680        690        700        710        720 
ATATVLVSLV ESGQAPKASS RASVGAAGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA 

       730        740        750        760        770        780 
LRCSAPPTEG ACTADKPTLV CSSAVGSWSY SQQRRQRVCS GEGPPKMDLM AFSPSLSPCP 

       790        800        810        820        830        840 
IMMGKAENQD LNEDHDAKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP 

       850        860        870        880        890        900 
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR 

       910        920        930        940        950 
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ 

« Hide

Isoform 2 [UniParc].

Checksum: 683E33D08C967700
Show »

FASTA68675,250
Isoform 3 [UniParc].

Checksum: D95B0E37DD1B0F17
Show »

FASTA80386,845

References

« Hide 'large scale' references
[1]"A striking organization of a large family of human neural cadherin-like cell adhesion genes."
Wu Q., Maniatis T.
Cell 97:779-790(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
Tissue: Brain.
[2]"Alternative splicing within the human CNR family of protocadherins (PCDH-alpha) produces transcripts encoding secreted proteins."
Kools P.F.J., van Roy F.
Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF152314 mRNA. Translation: AAD43708.1.
AF152484 mRNA. Translation: AAD43745.1.
AF169694 mRNA. Translation: AAF89691.1. Different initiation.
AC005609 Genomic DNA. Translation: AAC34320.1.
BC036674 mRNA. Translation: AAH36674.1.
RefSeqNP_061732.1. NM_018909.3.
NP_114036.1. NM_031848.2.
NP_114037.1. NM_031849.2.
UniGeneHs.199343.
Hs.570901.
Hs.599714.
Hs.621225.

3D structure databases

ProteinModelPortalQ9UN73.
SMRQ9UN73. Positions 27-681.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121082. 2 interactions.
IntActQ9UN73. 2 interactions.

PTM databases

PhosphoSiteQ9UN73.

Polymorphism databases

DMDM13878423.

Proteomic databases

PaxDbQ9UN73.
PRIDEQ9UN73.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000527624; ENSP00000434113; ENSG00000081842. [Q9UN73-2]
ENST00000529310; ENSP00000433378; ENSG00000081842. [Q9UN73-1]
ENST00000608670; ENSP00000477179; ENSG00000273256. [Q9UN73-1]
ENST00000608977; ENSP00000477064; ENSG00000273256. [Q9UN73-2]
GeneID56142.
KEGGhsa:56142.
UCSCuc003lhn.2. human. [Q9UN73-2]
uc003lho.2. human. [Q9UN73-1]
uc011dab.2. human. [Q9UN73-3]

Organism-specific databases

CTD56142.
GeneCardsGC05P140439.
HGNCHGNC:8672. PCDHA6.
HPAHPA008712.
MIM604966. gene.
606312. gene.
neXtProtNX_Q9UN73.
PharmGKBPA33018.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG267459.
HOGENOMHOG000220892.
HOVERGENHBG054878.
InParanoidQ9UN73.
KOK16493.
OMAEGACTAD.
OrthoDBEOG7KSX80.
PhylomeDBQ9UN73.
TreeFamTF332299.

Gene expression databases

BgeeQ9UN73.
CleanExHS_PCDHA6.
GenevestigatorQ9UN73.

Family and domain databases

Gene3D2.60.40.60. 6 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 6 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 6 hits.
PROSITEPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPCDHA6.
GenomeRNAi56142.
NextBio61718.
PROQ9UN73.
SOURCESearch...

Entry information

Entry namePCDA6_HUMAN
AccessionPrimary (citable) accession number: Q9UN73
Secondary accession number(s): O75283, Q9NRT8
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 123 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM