Q9H158 (PCDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protocadherin alpha-C1
Short name=PCDH-alpha-C1

Gene names

Name:

PCDHAC1

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	963 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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	Cell membrane; Single-pass type I membrane protein By similarity.
Sequence similarities	Contains 6 cadherin domains.

Ontologies

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

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: Q9H158-1)

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 Short (identifier: Q9H158-2)

The sequence of this isoform differs from the canonical sequence as follows:
     812-818: PRQPNPD → VSKFYGI
     819-963: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 18	18	Potential
	Chain	19 – 963	945	Protocadherin alpha-C1		PRO_0000003910
Regions
	Topological domain	19 – 683	665	Extracellular Potential
	Transmembrane	684 – 704	21	Helical; Potential
	Topological domain	705 – 963	259	Cytoplasmic Potential
	Domain	19 – 124	106	Cadherin 1
	Domain	125 – 233	109	Cadherin 2
	Domain	234 – 340	107	Cadherin 3
	Domain	349 – 445	97	Cadherin 4
	Domain	446 – 555	110	Cadherin 5
	Domain	570 – 667	98	Cadherin 6
	Repeat	812 – 815	4	PXXP 1
	Repeat	845 – 848	4	PXXP 2
	Repeat	886 – 889	4	PXXP 3
	Repeat	904 – 907	4	PXXP 4
	Region	812 – 907	96	4 X 4 AA repeats of P-X-X-P
	Compositional bias	634 – 638	5	Poly-Val
	Compositional bias	936 – 943	8	Poly-Lys
Amino acid modifications
	Glycosylation	38	1	N-linked (GlcNAc...) Potential
	Glycosylation	248	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
	Glycosylation	562	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	812 – 818	7	PRQPNPD → VSKFYGI in isoform Short.		VSP_000699
	Alternative sequence	819 – 963	145	Missing in isoform Short.		VSP_000700
	Natural variant	498	1	L → V. Ref.1 Corresponds to variant rs246074 [ dbSNP | Ensembl ].		VAR_048540
Experimental info
	Sequence conflict	462 – 463	2	AS → PP in CAC22255. Ref.2
	Sequence conflict	818	1	D → E in CAC22255. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified April 3, 2007. Version 2. Checksum: 6838EB8566BC6CEC	FASTA	963	103,942
	10 20 30 40 50 60 MVGCGVAVLC LWVSCGAAAG QLEYSVPEET ERGVAVGNLS ADLRLPAAAM SSRNFRFLSS 70 80 90 100 110 120 HRELYFGVDL PSGNLVVREP ADREQLCRAK AACVLTYDLV LEDPLELHKI RIHVLDTNDN 130 140 150 160 170 180 SPLFPAGDVQ LHIPEFLTPG ARFTLPNAQD DDEGSNGILS YSLSPSQHFR LDMGSRVDGS 190 200 210 220 230 240 EYPELVLEKA LDREQRATHL LVLTARDGGL PARSGDAQVT IIVVDTNDNA PVFERSVYRT 250 260 270 280 290 300 KVPETAPNGT VLFRVQALDP DEGSNGEVQY SLSNSTQAEL RHRFHVHPKS GEVQVAASLG 310 320 330 340 350 360 PPETLLEAYI EARDEGVFGL ASTAKLLVEV TDVNDHAPEL DFLTLSNPVP EDAAPGTVIA 370 380 390 400 410 420 LFSVKDEDLD SNGRVICGMS SAGPFQLTAS FDNYYSLLID GPLDREQISE YQVLITASDS 430 440 450 460 470 480 GSPPLSTRRT ITVSVADVND NTPNFPQPQQ ELFVAENNGP GASLGRVFAQ DPDLGKNGLV 490 500 510 520 530 540 SYELLDVISE GPSASSLLAV ESSSGAITAK TSFDFEQLRG FHFQVEGRDG GIPPRSATVT 550 560 570 580 590 600 INLFVVDRND NYPVILFPLP RNGSVPVEIV PRSARTGHLV TKVVAEDADS GSNAWLSYHI 610 620 630 640 650 660 SRASDSSLFR ISANIGELRT ARLVLPTDAV KQRVVVVVRD HGDPPLSSSV TLGVLLSNSV 670 680 690 700 710 720 PQLLPDFEDV WEPGGQLSAQ NLYLVIALAC ISFLFLGCLL FFVCTKLHQS PGCCAQSCCR 730 740 750 760 770 780 STEDLRYGSK MVSNPCMTSA TIDVTTVERL SQTYLYRASL GLGSDNNSLL LRGEYNAADL 790 800 810 820 830 840 RNLATGVGLN LPISCIQIRN RKGDHANVNA MPRQPNPDWR YSASLRAGMH SSVHLEEAGI 850 860 870 880 890 900 LRAGPGGPDQ QWPTVSSATP EPEAGEVSPP VGAGVNSNSW TFKYGPGNPK QSGPGELPDK 910 920 930 940 950 960 FIIPGSPAII SIRQEPTNSQ IDKSDFITFG KKEETKKKKK KKKGNKTQEK KEKGNSTTDN SDQ
	Isoform Short [UniParc]. Checksum: F21FB7D4C630E2DE	FASTA	818	88,316
	10 20 30 40 50 60 MVGCGVAVLC LWVSCGAAAG QLEYSVPEET ERGVAVGNLS ADLRLPAAAM SSRNFRFLSS 70 80 90 100 110 120 HRELYFGVDL PSGNLVVREP ADREQLCRAK AACVLTYDLV LEDPLELHKI RIHVLDTNDN 130 140 150 160 170 180 SPLFPAGDVQ LHIPEFLTPG ARFTLPNAQD DDEGSNGILS YSLSPSQHFR LDMGSRVDGS 190 200 210 220 230 240 EYPELVLEKA LDREQRATHL LVLTARDGGL PARSGDAQVT IIVVDTNDNA PVFERSVYRT 250 260 270 280 290 300 KVPETAPNGT VLFRVQALDP DEGSNGEVQY SLSNSTQAEL RHRFHVHPKS GEVQVAASLG 310 320 330 340 350 360 PPETLLEAYI EARDEGVFGL ASTAKLLVEV TDVNDHAPEL DFLTLSNPVP EDAAPGTVIA 370 380 390 400 410 420 LFSVKDEDLD SNGRVICGMS SAGPFQLTAS FDNYYSLLID GPLDREQISE YQVLITASDS 430 440 450 460 470 480 GSPPLSTRRT ITVSVADVND NTPNFPQPQQ ELFVAENNGP GASLGRVFAQ DPDLGKNGLV 490 500 510 520 530 540 SYELLDVISE GPSASSLLAV ESSSGAITAK TSFDFEQLRG FHFQVEGRDG GIPPRSATVT 550 560 570 580 590 600 INLFVVDRND NYPVILFPLP RNGSVPVEIV PRSARTGHLV TKVVAEDADS GSNAWLSYHI 610 620 630 640 650 660 SRASDSSLFR ISANIGELRT ARLVLPTDAV KQRVVVVVRD HGDPPLSSSV TLGVLLSNSV 670 680 690 700 710 720 PQLLPDFEDV WEPGGQLSAQ NLYLVIALAC ISFLFLGCLL FFVCTKLHQS PGCCAQSCCR 730 740 750 760 770 780 STEDLRYGSK MVSNPCMTSA TIDVTTVERL SQTYLYRASL GLGSDNNSLL LRGEYNAADL 790 800 810 RNLATGVGLN LPISCIQIRN RKGDHANVNA MVSKFYGI

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 LONG AND SHORT), VARIANT VAL-498. Tissue: Brain.
[2]	"In silico identification and molecular cloning of novel human protocadherin genes having identical 3' exons." Kools P.F.J., van Roy F. Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF152303 mRNA. Translation: AAD43697.1. AF152473 mRNA. Translation: AAD43734.1. AJ007608 mRNA. Translation: CAC22255.1.
IPI	IPI00219647. IPI00299664.
RefSeq	NP_061721.2. NM_018898.3. NP_114088.2. NM_031882.2.
UniGene	Hs.199343.
3D structure databases
ProteinModelPortal	Q9H158.
ModBase	Search...
PTM databases
PhosphoSite	Q9H158.
Polymorphism databases
DMDM	143811434.
Proteomic databases
PRIDE	Q9H158.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000253807; ENSP00000253807; ENSG00000248383. ENST00000409700; ENSP00000386356; ENSG00000248383.
GeneID	56135.
KEGG	hsa:56135.
UCSC	uc003lig.1. human. uc003lih.2. human.
Organism-specific databases
CTD	56135.
GeneCards	GC05P140408.
HGNC	HGNC:8676. PCDHAC1.
HPA	HPA008712.
MIM	604966. gene. 606320. gene.
neXtProt	NX_Q9H158.
PharmGKB	PA33022.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000220892.
HOVERGEN	HBG054878.
KO	K16493.
OMA	FRISANM.
Gene expression databases
Bgee	Q9H158.
Genevestigator	Q9H158.
GermOnline	ENSG00000081842. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 5 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	56135.
NextBio	61674.
SOURCE	Search...

Entry information

Entry name

PCDC1_HUMAN

Accession

Primary (citable) accession number: Q9H158
Secondary accession number(s): Q9Y5F5, Q9Y5I5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	April 3, 2007
Last modified:	May 1, 2013
This is version 108 of the entry and version 2 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.