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PCDH11X protocadherin 11 X-linked [ Homo sapiens (human) ]

Gene ID: 27328, updated on 26-Jun-2015
Official Symbol
PCDH11Xprovided by HGNC
Official Full Name
protocadherin 11 X-linkedprovided by HGNC
Primary source
HGNC:HGNC:8656
See related
Ensembl:ENSG00000102290; HPRD:02215; MIM:300246; Vega:OTTHUMG00000021965
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCDHX; PCDH-X; PCDH11; PPP1R119
Summary
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Orthologs
See PCDH11X in Epigenomics, MapViewer
Location:
Xq21.3
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (91779311..92623230)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (91034260..91878229)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 4 Neighboring gene uncharacterized LOC105373293 Neighboring gene voltage-dependent anion channel 1 pseudogene 3 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 10 Neighboring gene keratin 18 pseudogene 11 Neighboring gene sorting nexin 3 pseudogene 1, X-linked Neighboring gene ribosomal protein L26 pseudogene 36 Neighboring gene adaptor-related protein complex 2, beta 1 subunit pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.
NHGRI GWA Catalog
Genetically distinct subsets within ANCA-associated vasculitis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
protocadherin-11 X-linked
Names
protocadherin-11 X-linked
protein phosphatase 1, regulatory subunit 119
protocadherin 11X
protocadherin on the X chromosome
protocadherin-S

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016251.1 RefSeqGene

    Range
    61201..848970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168360.1NP_001161832.1  protocadherin-11 X-linked isoform e precursor

    See identical proteins and their annotated locations for NP_001161832.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks an in-frame exon in the 3' coding region, compared to variant c. The encoded isoform (e) is shorter, compared to isoform c.
    Source sequence(s)
    AB037747, AJ564931, AJ564945, AY861432, BQ184367
    Consensus CDS
    CCDS55459.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11631240
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  2. NM_001168361.1NP_001161833.1  protocadherin-11 X-linked isoform f precursor

    See identical proteins and their annotated locations for NP_001161833.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) lacks one exon and contains an alternate exon, which results in a frameshift and an early stop codon, compared to variant c. The encoded isoform (f) has a shorter and distinct C-terminus, compared to isoform c.
    Source sequence(s)
    AJ564931, AJ564945, AY861435, BQ184367
    Consensus CDS
    CCDS55458.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Conserved Domains (4) summary
    pfam08374
    Location:775976
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  3. NM_001168362.1NP_001161834.1  protocadherin-11 X-linked isoform g precursor

    See identical proteins and their annotated locations for NP_001161834.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks two consecutive in-frame exons in the central coding region, compared to variant c. The encoded isoform (g) is shorter, compared to isoform c.
    Source sequence(s)
    AB037747, AJ564931, AJ564945, AY861433, BQ184367
    Consensus CDS
    CCDS55461.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11341211
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  4. NM_001168363.1NP_001161835.1  protocadherin-11 X-linked isoform h precursor

    See identical proteins and their annotated locations for NP_001161835.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h) lacks two in-frame exons in the central coding region, compared to variant c. The encoded isoform (h) is shorter, compared to isoform c.
    Source sequence(s)
    AB037747, AJ564931, AJ564945, AY861434, BQ184367
    Consensus CDS
    CCDS55460.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11531230
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  5. NM_032968.4NP_116750.1  protocadherin-11 X-linked isoform c precursor

    See identical proteins and their annotated locations for NP_116750.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) represents the longest transcript and encodes the longest isoform (c).
    Source sequence(s)
    AF332218, AJ564945, BQ184367
    Consensus CDS
    CCDS14461.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Related
    ENSP00000362186, OTTHUMP00000023640, ENST00000373094, OTTHUMT00000057436
    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11711248
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  6. NM_032969.4NP_116751.1  protocadherin-11 X-linked isoform d precursor

    See identical proteins and their annotated locations for NP_116751.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) lacks an in-frame exon in the central coding region, compared to variant c. The encoded isoform (d) is shorter, compared to isoform c.
    Source sequence(s)
    AF332219, AJ564945, BQ184367
    Consensus CDS
    CCDS14462.1
    UniProtKB/Swiss-Prot
    Q9BZA7
    Related
    ENSP00000362189, OTTHUMP00000023641, ENST00000373097, OTTHUMT00000057437
    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11611238
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    91779311..92623230
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530911.1XP_011529213.1  

    See identical proteins and their annotated locations for XP_011529213.1

    Conserved Domains (5) summary
    pfam08374
    Location:8041028
    Protocadherin; Protocadherin
    cd11304
    Location:282380
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    pfam14650
    Location:12001277
    FAM75; FAM75 family
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain
  2. XM_011530912.1XP_011529214.1  

    Conserved Domains (5) summary
    pfam08374
    Location:8041028
    Protocadherin; Protocadherin
    cd11304
    Location:282380
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    pfam14650
    Location:11921269
    FAM75; FAM75 family
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain
  3. XM_011530913.1XP_011529215.1  

    Conserved Domains (5) summary
    pfam08374
    Location:8041028
    Protocadherin; Protocadherin
    cd11304
    Location:282380
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    pfam14650
    Location:11821259
    FAM75; FAM75 family
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain
  4. XM_011530914.1XP_011529216.1  

    See identical proteins and their annotated locations for XP_011529216.1

    Conserved Domains (5) summary
    pfam08374
    Location:775999
    Protocadherin; Protocadherin
    cd11304
    Location:253351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:384464
    CA; Cadherin repeats
    pfam14650
    Location:11711248
    FAM75; FAM75 family
    cl15786
    Location:28112
    CA_like; Cadherin repeat-like domain
  5. XM_011530915.1XP_011529217.1  

    See identical proteins and their annotated locations for XP_011529217.1

    Conserved Domains (4) summary
    pfam08374
    Location:8041005
    Protocadherin; Protocadherin
    cd11304
    Location:603698
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain
  6. XM_011530910.1XP_011529212.1  

    See identical proteins and their annotated locations for XP_011529212.1

    Conserved Domains (5) summary
    pfam08374
    Location:8041028
    Protocadherin; Protocadherin
    cd11304
    Location:282380
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    pfam14650
    Location:12001277
    FAM75; FAM75 family
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain
  7. XM_011530916.1XP_011529218.1  

    See identical proteins and their annotated locations for XP_011529218.1

    Conserved Domains (4) summary
    pfam08374
    Location:8041005
    Protocadherin; Protocadherin
    cd11304
    Location:603698
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:413493
    CA; Cadherin repeats
    cl15786
    Location:57141
    CA_like; Cadherin repeat-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    90983155..91771164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014522.1: Suppressed sequence

    Description
    NM_014522.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_032967.2: Suppressed sequence

    Description
    NM_032967.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.