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Protein

Protocadherin alpha-C1

Gene

PCDHAC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

  • cell adhesion Source: ProtInc
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • nervous system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin alpha-C1
Short name:
PCDH-alpha-C1
Gene namesi
Name:PCDHAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8676. PCDHAC1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 683665ExtracellularSequence analysisAdd
BLAST
Transmembranei684 – 70421HelicalSequence analysisAdd
BLAST
Topological domaini705 – 963259CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33022.

Polymorphism and mutation databases

BioMutaiPCDHAC1.
DMDMi143811434.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 963945Protocadherin alpha-C1PRO_0000003910Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi38 – 381N-linked (GlcNAc...)Sequence analysis
Glycosylationi248 – 2481N-linked (GlcNAc...)Sequence analysis
Glycosylationi274 – 2741N-linked (GlcNAc...)Sequence analysis
Glycosylationi562 – 5621N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H158.
PRIDEiQ9H158.

PTM databases

iPTMnetiQ9H158.
PhosphoSiteiQ9H158.

Expressioni

Gene expression databases

BgeeiQ9H158.
GenevisibleiQ9H158. HS.

Interactioni

Protein-protein interaction databases

BioGridi121075. 10 interactions.
STRINGi9606.ENSP00000253807.

Structurei

3D structure databases

ProteinModelPortaliQ9H158.
SMRiQ9H158. Positions 22-654.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 124106Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini125 – 233109Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini234 – 340107Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini349 – 44597Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini446 – 555110Cadherin 5PROSITE-ProRule annotationAdd
BLAST
Domaini570 – 66798Cadherin 6PROSITE-ProRule annotationAdd
BLAST
Repeati812 – 8154PXXP 1
Repeati845 – 8484PXXP 2
Repeati886 – 8894PXXP 3
Repeati904 – 9074PXXP 4

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni812 – 907964 X 4 AA repeats of P-X-X-PAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi634 – 6385Poly-Val
Compositional biasi936 – 9438Poly-Lys

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9H158.
KOiK16493.
OMAiRISANMG.
OrthoDBiEOG7J445X.
PhylomeDBiQ9H158.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 5 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR030742. PCDHAC1.
[Graphical view]
PANTHERiPTHR24028:SF132. PTHR24028:SF132. 1 hit.
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: Q9H158-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MVGCGVAVLC LWVSCGAAAG QLEYSVPEET ERGVAVGNLS ADLRLPAAAM
60 70 80 90 100
SSRNFRFLSS HRELYFGVDL PSGNLVVREP ADREQLCRAK AACVLTYDLV
110 120 130 140 150
LEDPLELHKI RIHVLDTNDN SPLFPAGDVQ LHIPEFLTPG ARFTLPNAQD
160 170 180 190 200
DDEGSNGILS YSLSPSQHFR LDMGSRVDGS EYPELVLEKA LDREQRATHL
210 220 230 240 250
LVLTARDGGL PARSGDAQVT IIVVDTNDNA PVFERSVYRT KVPETAPNGT
260 270 280 290 300
VLFRVQALDP DEGSNGEVQY SLSNSTQAEL RHRFHVHPKS GEVQVAASLG
310 320 330 340 350
PPETLLEAYI EARDEGVFGL ASTAKLLVEV TDVNDHAPEL DFLTLSNPVP
360 370 380 390 400
EDAAPGTVIA LFSVKDEDLD SNGRVICGMS SAGPFQLTAS FDNYYSLLID
410 420 430 440 450
GPLDREQISE YQVLITASDS GSPPLSTRRT ITVSVADVND NTPNFPQPQQ
460 470 480 490 500
ELFVAENNGP GASLGRVFAQ DPDLGKNGLV SYELLDVISE GPSASSLLAV
510 520 530 540 550
ESSSGAITAK TSFDFEQLRG FHFQVEGRDG GIPPRSATVT INLFVVDRND
560 570 580 590 600
NYPVILFPLP RNGSVPVEIV PRSARTGHLV TKVVAEDADS GSNAWLSYHI
610 620 630 640 650
SRASDSSLFR ISANIGELRT ARLVLPTDAV KQRVVVVVRD HGDPPLSSSV
660 670 680 690 700
TLGVLLSNSV PQLLPDFEDV WEPGGQLSAQ NLYLVIALAC ISFLFLGCLL
710 720 730 740 750
FFVCTKLHQS PGCCAQSCCR STEDLRYGSK MVSNPCMTSA TIDVTTVERL
760 770 780 790 800
SQTYLYRASL GLGSDNNSLL LRGEYNAADL RNLATGVGLN LPISCIQIRN
810 820 830 840 850
RKGDHANVNA MPRQPNPDWR YSASLRAGMH SSVHLEEAGI LRAGPGGPDQ
860 870 880 890 900
QWPTVSSATP EPEAGEVSPP VGAGVNSNSW TFKYGPGNPK QSGPGELPDK
910 920 930 940 950
FIIPGSPAII SIRQEPTNSQ IDKSDFITFG KKEETKKKKK KKKGNKTQEK
960
KEKGNSTTDN SDQ
Length:963
Mass (Da):103,942
Last modified:April 3, 2007 - v2
Checksum:i6838EB8566BC6CEC
GO
Isoform Short (identifier: Q9H158-2) [UniParc]FASTAAdd to basket

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

Show »
Length:818
Mass (Da):88,316
Checksum:iF21FB7D4C630E2DE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti462 – 4632AS → PP in CAC22255 (Ref. 2) Curated
Sequence conflicti818 – 8181D → E in CAC22255 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti498 – 4981L → V.1 Publication
Corresponds to variant rs246074 [ dbSNP | Ensembl ].
VAR_048540

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei812 – 8187PRQPNPD → VSKFYGI in isoform Short. 1 PublicationVSP_000699
Alternative sequencei819 – 963145Missing in isoform Short. 1 PublicationVSP_000700Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152303 mRNA. Translation: AAD43697.1.
AF152473 mRNA. Translation: AAD43734.1.
AJ007608 mRNA. Translation: CAC22255.1.
CCDSiCCDS4241.1. [Q9H158-1]
RefSeqiNP_061721.2. NM_018898.3. [Q9H158-1]
UniGeneiHs.199343.

Genome annotation databases

EnsembliENST00000253807; ENSP00000253807; ENSG00000248383. [Q9H158-1]
ENST00000409700; ENSP00000386356; ENSG00000248383. [Q9H158-2]
GeneIDi56135.
KEGGihsa:56135.
UCSCiuc003lig.3. human. [Q9H158-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152303 mRNA. Translation: AAD43697.1.
AF152473 mRNA. Translation: AAD43734.1.
AJ007608 mRNA. Translation: CAC22255.1.
CCDSiCCDS4241.1. [Q9H158-1]
RefSeqiNP_061721.2. NM_018898.3. [Q9H158-1]
UniGeneiHs.199343.

3D structure databases

ProteinModelPortaliQ9H158.
SMRiQ9H158. Positions 22-654.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121075. 10 interactions.
STRINGi9606.ENSP00000253807.

PTM databases

iPTMnetiQ9H158.
PhosphoSiteiQ9H158.

Polymorphism and mutation databases

BioMutaiPCDHAC1.
DMDMi143811434.

Proteomic databases

PaxDbiQ9H158.
PRIDEiQ9H158.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253807; ENSP00000253807; ENSG00000248383. [Q9H158-1]
ENST00000409700; ENSP00000386356; ENSG00000248383. [Q9H158-2]
GeneIDi56135.
KEGGihsa:56135.
UCSCiuc003lig.3. human. [Q9H158-1]

Organism-specific databases

CTDi56135.
GeneCardsiPCDHAC1.
HGNCiHGNC:8676. PCDHAC1.
MIMi604966. gene.
606320. gene.
neXtProtiNX_Q9H158.
PharmGKBiPA33022.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9H158.
KOiK16493.
OMAiRISANMG.
OrthoDBiEOG7J445X.
PhylomeDBiQ9H158.
TreeFamiTF332299.

Miscellaneous databases

GenomeRNAii56135.
NextBioi61674.
PROiQ9H158.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H158.
GenevisibleiQ9H158. HS.

Family and domain databases

Gene3Di2.60.40.60. 5 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR030742. PCDHAC1.
[Graphical view]
PANTHERiPTHR24028:SF132. PTHR24028:SF132. 1 hit.
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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).

Entry informationi

Entry nameiPCDC1_HUMAN
AccessioniPrimary (citable) accession number: Q9H158
Secondary accession number(s): Q9Y5F5, Q9Y5I5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: April 3, 2007
Last modified: May 11, 2016
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.