Q9UN70 (PCDGK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protocadherin gamma-C3
Short name=PCDH-gamma-C3

Alternative name(s):
Protocadherin-2
Protocadherin-43
Short name=PC-43

Gene names

Name:	PCDHGC3
Synonyms:	PCDH2

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	934 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein 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	Cell membrane; Single-pass type I membrane protein By similarity.
Sequence similarities	Contains 6 cadherin domains.
Sequence caution	The sequence AAA75391.1 differs from that shown. Reason: Frameshift at position 905.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium-dependent cell-cell adhesion Non-traceable author statement Ref.1. Source: UniProtKB homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW membrane Non-traceable author statement Ref.1. Source: UniProtKB plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UN70-1)

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: Q9UN70-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     811-863: QAPPNTDWRF...ILASASEAAD → VRFSKSCLTL...ALPRSKLVPL
     864-934: Missing.

Isoform 3 (identifier: Q9UN70-3)

Also known as: PC43-11;

The sequence of this isoform differs from the canonical sequence as follows:
     811-837: QAPPNTDWRFSQAQRPGTSGSQNGDDT → VRFSKSCLTLLVPFYSYIILRRLELFF
     838-934: Missing.

Isoform 4 (identifier: Q9UN70-4)

Also known as: PC43-12;

The sequence of this isoform differs from the canonical sequence as follows:
     683-683: P → S
     684-934: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 31	31	Potential
	Chain	32 – 934	903	Protocadherin gamma-C3		PRO_0000003985
Regions
	Topological domain	32 – 693	662	Extracellular Potential
	Transmembrane	694 – 714	21	Helical; Potential
	Topological domain	715 – 934	220	Cytoplasmic Potential
	Domain	32 – 135	104	Cadherin 1
	Domain	136 – 244	109	Cadherin 2
	Domain	245 – 352	108	Cadherin 3
	Domain	353 – 457	105	Cadherin 4
	Domain	458 – 567	110	Cadherin 5
	Domain	572 – 685	114	Cadherin 6
Amino acid modifications
	Glycosylation	245	1	N-linked (GlcNAc...) Potential
	Glycosylation	424	1	N-linked (GlcNAc...) Potential
	Glycosylation	478	1	N-linked (GlcNAc...) Potential
	Glycosylation	550	1	N-linked (GlcNAc...) Potential
	Glycosylation	615	1	N-linked (GlcNAc...) Potential
	Glycosylation	689	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	683	1	P → S in isoform 4.		VSP_009673
	Alternative sequence	684 – 934	251	Missing in isoform 4.		VSP_009674
	Alternative sequence	811 – 863	53	QAPPN…SEAAD → VRFSKSCLTLLVLFYSYIIL RKEWSCFFSDEDVFLVMHSH FQLALPRSKLVPL in isoform 2.		VSP_008698
	Alternative sequence	811 – 837	27	QAPPN…NGDDT → VRFSKSCLTLLVPFYSYIIL RRLELFF in isoform 3.		VSP_009675
	Alternative sequence	838 – 934	97	Missing in isoform 3.		VSP_009676
	Alternative sequence	864 – 934	71	Missing in isoform 2.		VSP_008699
Experimental info
	Sequence conflict	67	1	R → P in AAA75391. Ref.1
	Sequence conflict	164	1	V → L in AAA75391. Ref.1
	Sequence conflict	254 – 258	5	LEDAP → PGGCT in AAA75391. Ref.1
	Sequence conflict	366 – 367	2	PL → S in AAA75391. Ref.1
	Sequence conflict	611	1	L → F in AAA75391. Ref.1
	Sequence conflict	768 – 769	2	RS → PG in AAC08350. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 1C8E1EADD485AB10	FASTA	934	101,077
	10 20 30 40 50 60 MVPEAWRSGL VSTGRVVGVL LLLGALNKAS TVIHYEIPEE REKGFAVGNV VANLGLDLGS 70 80 90 100 110 120 LSARRFRVVS GASRRFFEVN RETGEMFVND RLDREELCGT LPSCTVTLEL VVENPLELFS 130 140 150 160 170 180 VEVVIQDIND NNPAFPTQEM KLEISEAVAP GTRFPLESAH DPDVGSNSLQ TYELSRNEYF 190 200 210 220 230 240 ALRVQTREDS TKYAELVLER ALDREREPSL QLVLTALDGG TPALSASLPI HIKVLDANDN 250 260 270 280 290 300 APVFNQSLYR ARVLEDAPSG TRVVQVLATD LDEGPNGEII YSFGSHNRAG VRQLFALDLV 310 320 330 340 350 360 TGMLTIKGRL DFEDTKLHEI YIQAKDKGAN PEGAHCKVLV EVVDVNDNAP EITVTSVYSP 370 380 390 400 410 420 VPEDAPLGTV IALLSVTDLD AGENGLVTCE VPPGLPFSLT SSLKNYFTLK TSADLDRETV 430 440 450 460 470 480 PEYNLSITAR DAGTPSLSAL TIVRVQVSDI NDNPPQSSQS SYDVYIEENN LPGAPILNLS 490 500 510 520 530 540 VWDPDAPQNA RLSFFLLEQG AETGLVGRYF TINRDNGIVS SLVPLDYEDR REFELTAHIS 550 560 570 580 590 600 DGGTPVLATN ISVNIFVTDR NDNAPQVLYP RPGGSSVEML PRGTSAGHLV SRVVGWDADA 610 620 630 640 650 660 GHNAWLSYSL LGSPNQSLFA IGLHTGQIST ARPVQDTDSP RQTLTVLIKD NGEPSLSTTA 670 680 690 700 710 720 TLTVSVTEDS PEARAEFPSG SAPREQKKNL TFYLLLSLIL VSVGFVVTVF GVIIFKVYKW 730 740 750 760 770 780 KQSRDLYRAP VSSLYRTPGP SLHADAVRGG LMSPHLYHQV YLTTDSRRSD PLLKKPGAAS 790 800 810 820 830 840 PLASRQNTLR SCDPVFYRQV LGAESAPPGQ QAPPNTDWRF SQAQRPGTSG SQNGDDTGTW 850 860 870 880 890 900 PNNQFDTEML QAMILASASE AADGSSTLGG GAGTMGLSAR YGPQFTLQHV PDYRQNVYIP 910 920 930 GSNATLTNAA GKRDGKAPAG GNGNKKKSGK KEKK
	Isoform 2 (Short) [UniParc]. Checksum: 884E5FF5A1F227A2	FASTA	863	94,458
	10 20 30 40 50 60 MVPEAWRSGL VSTGRVVGVL LLLGALNKAS TVIHYEIPEE REKGFAVGNV VANLGLDLGS 70 80 90 100 110 120 LSARRFRVVS GASRRFFEVN RETGEMFVND RLDREELCGT LPSCTVTLEL VVENPLELFS 130 140 150 160 170 180 VEVVIQDIND NNPAFPTQEM KLEISEAVAP GTRFPLESAH DPDVGSNSLQ TYELSRNEYF 190 200 210 220 230 240 ALRVQTREDS TKYAELVLER ALDREREPSL QLVLTALDGG TPALSASLPI HIKVLDANDN 250 260 270 280 290 300 APVFNQSLYR ARVLEDAPSG TRVVQVLATD LDEGPNGEII YSFGSHNRAG VRQLFALDLV 310 320 330 340 350 360 TGMLTIKGRL DFEDTKLHEI YIQAKDKGAN PEGAHCKVLV EVVDVNDNAP EITVTSVYSP 370 380 390 400 410 420 VPEDAPLGTV IALLSVTDLD AGENGLVTCE VPPGLPFSLT SSLKNYFTLK TSADLDRETV 430 440 450 460 470 480 PEYNLSITAR DAGTPSLSAL TIVRVQVSDI NDNPPQSSQS SYDVYIEENN LPGAPILNLS 490 500 510 520 530 540 VWDPDAPQNA RLSFFLLEQG AETGLVGRYF TINRDNGIVS SLVPLDYEDR REFELTAHIS 550 560 570 580 590 600 DGGTPVLATN ISVNIFVTDR NDNAPQVLYP RPGGSSVEML PRGTSAGHLV SRVVGWDADA 610 620 630 640 650 660 GHNAWLSYSL LGSPNQSLFA IGLHTGQIST ARPVQDTDSP RQTLTVLIKD NGEPSLSTTA 670 680 690 700 710 720 TLTVSVTEDS PEARAEFPSG SAPREQKKNL TFYLLLSLIL VSVGFVVTVF GVIIFKVYKW 730 740 750 760 770 780 KQSRDLYRAP VSSLYRTPGP SLHADAVRGG LMSPHLYHQV YLTTDSRRSD PLLKKPGAAS 790 800 810 820 830 840 PLASRQNTLR SCDPVFYRQV LGAESAPPGQ VRFSKSCLTL LVLFYSYIIL RKEWSCFFSD 850 860 EDVFLVMHSH FQLALPRSKL VPL
	Isoform 3 (PC43-11) [UniParc]. Checksum: 187309C9134B4BB3	FASTA	837	91,458
	10 20 30 40 50 60 MVPEAWRSGL VSTGRVVGVL LLLGALNKAS TVIHYEIPEE REKGFAVGNV VANLGLDLGS 70 80 90 100 110 120 LSARRFRVVS GASRRFFEVN RETGEMFVND RLDREELCGT LPSCTVTLEL VVENPLELFS 130 140 150 160 170 180 VEVVIQDIND NNPAFPTQEM KLEISEAVAP GTRFPLESAH DPDVGSNSLQ TYELSRNEYF 190 200 210 220 230 240 ALRVQTREDS TKYAELVLER ALDREREPSL QLVLTALDGG TPALSASLPI HIKVLDANDN 250 260 270 280 290 300 APVFNQSLYR ARVLEDAPSG TRVVQVLATD LDEGPNGEII YSFGSHNRAG VRQLFALDLV 310 320 330 340 350 360 TGMLTIKGRL DFEDTKLHEI YIQAKDKGAN PEGAHCKVLV EVVDVNDNAP EITVTSVYSP 370 380 390 400 410 420 VPEDAPLGTV IALLSVTDLD AGENGLVTCE VPPGLPFSLT SSLKNYFTLK TSADLDRETV 430 440 450 460 470 480 PEYNLSITAR DAGTPSLSAL TIVRVQVSDI NDNPPQSSQS SYDVYIEENN LPGAPILNLS 490 500 510 520 530 540 VWDPDAPQNA RLSFFLLEQG AETGLVGRYF TINRDNGIVS SLVPLDYEDR REFELTAHIS 550 560 570 580 590 600 DGGTPVLATN ISVNIFVTDR NDNAPQVLYP RPGGSSVEML PRGTSAGHLV SRVVGWDADA 610 620 630 640 650 660 GHNAWLSYSL LGSPNQSLFA IGLHTGQIST ARPVQDTDSP RQTLTVLIKD NGEPSLSTTA 670 680 690 700 710 720 TLTVSVTEDS PEARAEFPSG SAPREQKKNL TFYLLLSLIL VSVGFVVTVF GVIIFKVYKW 730 740 750 760 770 780 KQSRDLYRAP VSSLYRTPGP SLHADAVRGG LMSPHLYHQV YLTTDSRRSD PLLKKPGAAS 790 800 810 820 830 PLASRQNTLR SCDPVFYRQV LGAESAPPGQ VRFSKSCLTL LVPFYSYIIL RRLELFF
	Isoform 4 (PC43-12) [UniParc]. Checksum: 749733C5F280BE03	FASTA	683	73,954
	10 20 30 40 50 60 MVPEAWRSGL VSTGRVVGVL LLLGALNKAS TVIHYEIPEE REKGFAVGNV VANLGLDLGS 70 80 90 100 110 120 LSARRFRVVS GASRRFFEVN RETGEMFVND RLDREELCGT LPSCTVTLEL VVENPLELFS 130 140 150 160 170 180 VEVVIQDIND NNPAFPTQEM KLEISEAVAP GTRFPLESAH DPDVGSNSLQ TYELSRNEYF 190 200 210 220 230 240 ALRVQTREDS TKYAELVLER ALDREREPSL QLVLTALDGG TPALSASLPI HIKVLDANDN 250 260 270 280 290 300 APVFNQSLYR ARVLEDAPSG TRVVQVLATD LDEGPNGEII YSFGSHNRAG VRQLFALDLV 310 320 330 340 350 360 TGMLTIKGRL DFEDTKLHEI YIQAKDKGAN PEGAHCKVLV EVVDVNDNAP EITVTSVYSP 370 380 390 400 410 420 VPEDAPLGTV IALLSVTDLD AGENGLVTCE VPPGLPFSLT SSLKNYFTLK TSADLDRETV 430 440 450 460 470 480 PEYNLSITAR DAGTPSLSAL TIVRVQVSDI NDNPPQSSQS SYDVYIEENN LPGAPILNLS 490 500 510 520 530 540 VWDPDAPQNA RLSFFLLEQG AETGLVGRYF TINRDNGIVS SLVPLDYEDR REFELTAHIS 550 560 570 580 590 600 DGGTPVLATN ISVNIFVTDR NDNAPQVLYP RPGGSSVEML PRGTSAGHLV SRVVGWDADA 610 620 630 640 650 660 GHNAWLSYSL LGSPNQSLFA IGLHTGQIST ARPVQDTDSP RQTLTVLIKD NGEPSLSTTA 670 680 TLTVSVTEDS PEARAEFPSG SAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Protocadherins: a large family of cadherin-related molecules in central nervous system." Sano K., Tanihara H., Heimark R.L., Obata S., Davidson M., St John T., Taketani S., Suzuki S. EMBO J. 12:2249-2256(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3 AND 4). Tissue: Brain.
[2]	"Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous." Lynch E.D., Lee M.K., Morrow J.E., Welcsh P.L., Leon P.E., King M.-C. Science 278:1315-1318(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[3]	"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 (ISOFORMS 1 AND 2). Tissue: Brain.
[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 and Skin.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L11371 mRNA. Translation: AAA36420.1. L11372 mRNA. Translation: AAA36421.1. L11373 mRNA. Translation: AAA75391.1. Frameshift. AF052685, AF052683, AF052684 Genomic DNA. Translation: AAC08350.1. AF152337 mRNA. Translation: AAD43731.1. AF152524 mRNA. Translation: AAD43784.1. BC019299 mRNA. Translation: AAH19299.1. BC026218 mRNA. Translation: AAH26218.1.
IPI	IPI00001872. IPI00031750. IPI00409667. IPI00409668.
RefSeq	NP_002579.2. NM_002588.2. NP_115778.1. NM_032402.1. NP_115779.1. NM_032403.1.
UniGene	Hs.368160.
3D structure databases
ProteinModelPortal	Q9UN70.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UN70. 3 interactions.
PTM databases
PhosphoSite	Q9UN70.
Polymorphism databases
DMDM	37999813.
Proteomic databases
PaxDb	Q9UN70.
PeptideAtlas	Q9UN70.
PRIDE	Q9UN70.
Protocols and materials databases
DNASU	5098.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308177; ENSP00000312070; ENSG00000240184.
GeneID	5098.
KEGG	hsa:5098.
UCSC	uc003lku.1. human. uc003lkv.2. human.
Organism-specific databases
CTD	5098.
GeneCards	GC05P141221.
HGNC	HGNC:8716. PCDHGC3.
HPA	HPA008755.
MIM	603627. gene. 604968. gene.
neXtProt	NX_Q9UN70.
PharmGKB	PA33064.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG316473.
HOGENOM	HOG000220892.
HOVERGEN	HBG054878.
KO	K16497.
OMA	SAPREQK.
OrthoDB	EOG4WH8K3.
Gene expression databases
ArrayExpress	Q9UN70.
Bgee	Q9UN70.
CleanEx	HS_PCDHGC3.
Genevestigator	Q9UN70.
GermOnline	ENSG00000081853. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 6 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR013164. Cadherin_N. [Graphical view]
Pfam	PF00028. Cadherin. 5 hits. PF08266. Cadherin_2. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 6 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 6 hits.
PROSITE	PS00232. CADHERIN_1. 5 hits. PS50268. CADHERIN_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	5098.
NextBio	19670.
SOURCE	Search...

Entry information

Entry name

PCDGK_HUMAN

Accession

Primary (citable) accession number: Q9UN70
Secondary accession number(s): O60622, Q08192, Q9Y5C4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 24, 2003
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 108 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.