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    PALLD palladin, cytoskeletal associated protein [ Homo sapiens (human) ]

    Gene ID: 23022, updated on 27-Jun-2015
    Official Symbol
    PALLDprovided by HGNC
    Official Full Name
    palladin, cytoskeletal associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17068
    See related
    Ensembl:ENSG00000129116; HPRD:09731; MIM:608092; Vega:OTTHUMG00000161097
    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
    MYN; PNCA1; CGI151; SIH002; CGI-151
    Summary
    This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
    Orthologs
    See PALLD in Epigenomics, MapViewer
    Location:
    4q32.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (168497064..168928457)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (169418215..169849608)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like Neighboring gene basic transcription factor 3-like 4 pseudogene 4 Neighboring gene uncharacterized LOC105377526 Neighboring gene uncharacterized LOC105377525 Neighboring gene ribosomal protein L9 pseudogene 16 Neighboring gene uncharacterized LOC102723331 Neighboring gene carbonyl reductase 4 Neighboring gene uncharacterized LOC105377527 Neighboring gene RNA, Ro-associated Y4 pseudogene 17

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Pancreatic cancer 1
    MedGen: C1847351 OMIM: 606856 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    NHGRI GWA Catalog
    Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22190, FLJ38193, FLJ39139, FLJ61376, KIAA0992

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    muscle alpha-actinin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    palladin
    Names
    palladin
    myoneurin
    sarcoma antigen NY-SAR-77

    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_013376.1 RefSeqGene

      Range
      5001..436392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166108.1NP_001159580.1  palladin isoform 1

      See identical proteins and their annotated locations for NP_001159580.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF077041, AF464873, AI418424, AK025843, BC144666
      Consensus CDS
      CCDS54818.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Conserved Domains (3) summary
      cd00096
      Location:458535
      Ig; Immunoglobulin domain
      cd05893
      Location:10441118
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:271361
      I-set; Immunoglobulin I-set domain
    2. NM_001166109.1NP_001159581.1  palladin isoform 3

      See identical proteins and their annotated locations for NP_001159581.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, lacks an alternate in-frame exon in the central coding region, and lacks an exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC084353, AF077041, AI418424, AK025843, AK095512, DA048169
      Consensus CDS
      CCDS54819.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Conserved Domains (3) summary
      cd00096
      Location:76153
      Ig; Immunoglobulin domain
      cd05893
      Location:645719
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:529619
      I-set; Immunoglobulin I-set domain
    3. NM_001166110.1NP_001159582.1  palladin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks several exons in the 5' coding region, uses an alternate translational start codon, lacks an alternate in-frame exon in the central coding region, and lacks an exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has distinct N- and C-termini, compared to isoform 1.
      Source sequence(s)
      AB023209, AC080188, AF077041, AI418424, DA211938, DB257974
      Consensus CDS
      CCDS54820.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Related
      ENSP00000424016, OTTHUMP00000219715, ENST00000507735, OTTHUMT00000363771
      Conserved Domains (3) summary
      cd00096
      Location:307376
      Ig; Immunoglobulin domain
      cd05893
      Location:540614
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:424514
      I-set; Immunoglobulin I-set domain
    4. NM_016081.3NP_057165.3  palladin isoform 2

      See identical proteins and their annotated locations for NP_057165.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC115538, AF464873, AW248292
      Consensus CDS
      CCDS34098.1
      UniProtKB/TrEMBL
      B2RTX2
      UniProtKB/Swiss-Prot
      Q8WX93
      Related
      ENSP00000261509, OTTHUMP00000219711, ENST00000261509, OTTHUMT00000363761
      Conserved Domains (3) summary
      cd00096
      Location:458535
      Ig; Immunoglobulin domain
      cd05893
      Location:10271101
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:271361
      I-set; Immunoglobulin I-set 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_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      168497064..168928457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262861.3XP_005262918.1  

      Conserved Domains (3) summary
      cd00096
      Location:458535
      Ig; Immunoglobulin domain
      cd05893
      Location:12681342
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:271361
      I-set; Immunoglobulin I-set domain
    2. XM_011531773.1XP_011530075.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:11121186
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    3. XM_011531774.1XP_011530076.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:10951169
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    4. XM_011531770.1XP_011530072.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:13361410
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    5. XM_011531768.1XP_011530070.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:13361410
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    6. XM_011531769.1XP_011530071.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:13191393
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    7. XM_011531771.1XP_011530073.1  

      Conserved Domains (4) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:12451319
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:10251086
      Ig; Immunoglobulin domain
    8. XM_011531772.1XP_011530074.1  

      Conserved Domains (3) summary
      cd00096
      Location:526603
      Ig; Immunoglobulin domain
      cd05893
      Location:12121286
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:339429
      I-set; Immunoglobulin I-set domain
    9. XM_005262866.2XP_005262923.1  

      See identical proteins and their annotated locations for XP_005262923.1

      Conserved Domains (3) summary
      cd00096
      Location:76153
      Ig; Immunoglobulin domain
      cd05893
      Location:886960
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:770860
      I-set; Immunoglobulin I-set domain
    10. XM_011531776.1XP_011530078.1  

      See identical proteins and their annotated locations for XP_011530078.1

      Conserved Domains (3) summary
      cd00096
      Location:76153
      Ig; Immunoglobulin domain
      cd05893
      Location:886960
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:770860
      I-set; Immunoglobulin I-set domain
    11. XM_011531775.1XP_011530077.1  

      See identical proteins and their annotated locations for XP_011530077.1

      Conserved Domains (3) summary
      cd00096
      Location:76153
      Ig; Immunoglobulin domain
      cd05893
      Location:886960
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:770860
      I-set; Immunoglobulin I-set domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      169394774..169826047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)