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

    Gene ID: 23022, updated on 17-Sep-2022

    Summary

    Official Symbol
    PALLDprovided by HGNC
    Official Full Name
    palladin, cytoskeletal associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:17068
    See related
    Ensembl:ENSG00000129116 MIM:608092; AllianceGenome:HGNC:17068
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 88.4), prostate (RPKM 49.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PALLD in Genome Data Viewer
    Location:
    4q32.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (168497052..168928441)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (171856045..172287862)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (169418203..169849592)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene DExD/H-box helicase 60 Neighboring gene small nucleolar RNA U13 Neighboring gene DExD/H-box 60 like Neighboring gene small nucleolar RNA SNORA51 Neighboring gene uncharacterized LOC107986198 Neighboring gene uncharacterized LOC124900807 Neighboring gene basic transcription factor 3 like 4 pseudogene 4 Neighboring gene uncharacterized LOC124900808 Neighboring gene PALLD antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1336, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8333 Neighboring gene ribosomal protein L9 pseudogene 16 Neighboring gene uncharacterized LOC124900809 Neighboring gene uncharacterized LOC102723331 Neighboring gene RNA, U6 small nuclear 853, pseudogene Neighboring gene uncharacterized LOC107986200 Neighboring gene carbonyl reductase 4 Neighboring gene RNY4 pseudogene 17

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
    EBI GWAS Catalog
    Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22190, FLJ38193, FLJ39139, FLJ61376, KIAA0992

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables muscle alpha-actinin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in keratinocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in actin filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in excitatory synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in focal adhesion HDA PubMed 
    located_in focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in podosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    palladin
    Names
    myoneurin
    sarcoma antigen NY-SAR-77

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4987..436376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001166108.2NP_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)
      AC079926, AF077041, AF464873, AI418424, AK025843, BC144666
      Consensus CDS
      CCDS54818.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Related
      ENSP00000425556.1, ENST00000505667.6
      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_001166109.2NP_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)
      AC079858, AC084353, AF077041, AI418424, AK025843, AK095512, DA048169
      Consensus CDS
      CCDS54819.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Related
      ENSP00000426947.1, ENST00000512127.5
      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_001166110.2NP_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, DB257974
      Consensus CDS
      CCDS54820.1
      UniProtKB/Swiss-Prot
      Q8WX93
      Related
      ENSP00000424016.1, ENST00000507735.6
      Conserved Domains (4) summary
      cd00096
      Location:424427
      Ig; Ig strand A [structural motif]
      cd05892
      Location:523614
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cd05893
      Location:290381
      IgI_1_Palladin_C; First C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:424514
      Ig; Immunoglobulin domain
    4. NM_001367567.1NP_001354496.1  palladin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC080188, AC115538
      Conserved Domains (3) summary
      cd05892
      Location:303394
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cd05893
      Location:70161
      IgI_1_Palladin_C; First C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
      cd20990
      Location:204294
      IgI_2_Palladin_C; Second C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
    5. NM_001367568.1NP_001354497.1  palladin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC080188, AC115538
    6. NM_001367569.1NP_001354498.1  palladin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC080188, AC115538
    7. NM_001367570.1NP_001354499.1  palladin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC080188, AC115538
      Conserved Domains (3) summary
      cd05892
      Location:320411
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cd05893
      Location:87178
      IgI_1_Palladin_C; First C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
      cd20990
      Location:221311
      IgI_2_Palladin_C; Second C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
    8. NM_016081.4NP_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)
      AC079926, AC115538, AF464873, AW248292
      Consensus CDS
      CCDS34098.1
      UniProtKB/Swiss-Prot
      Q8WX93
      UniProtKB/TrEMBL
      B2RTX2
      Related
      ENSP00000261509.6, ENST00000261509.10
      Conserved Domains (3) summary
      cd05893
      Location:10271101
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:271361
      I-set; Immunoglobulin I-set domain
      cl25751
      Location:77237
      DUF4045; Domain of unknown function (DUF4045)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      168497052..168928441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531768.3XP_011530070.1  palladin isoform X1

      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
    2. XM_011531769.3XP_011530071.1  palladin isoform X2

      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
    3. XM_011531771.3XP_011530073.1  palladin isoform X5

      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
    4. XM_011531772.3XP_011530074.1  palladin isoform X6

      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
    5. XM_011531773.2XP_011530075.1  palladin isoform X7

      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
    6. XM_011531774.2XP_011530076.1  palladin isoform X8

      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
    7. XM_047449863.1XP_047305819.1  palladin isoform X9

    8. XM_047449864.1XP_047305820.1  palladin isoform X10

    9. XM_047449861.1XP_047305817.1  palladin isoform X3

    10. XM_047449862.1XP_047305818.1  palladin isoform X4

    11. XM_024453939.2XP_024309707.1  palladin isoform X10

      Conserved Domains (2) summary
      cd05893
      Location:886960
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:770860
      I-set; Immunoglobulin I-set domain
    12. XM_011531775.2XP_011530077.1  palladin isoform X10

      See identical proteins and their annotated locations for XP_011530077.1

      Conserved Domains (2) summary
      cd05893
      Location:886960
      Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
      pfam07679
      Location:770860
      I-set; Immunoglobulin I-set domain
    13. XM_047449865.1XP_047305821.1  palladin isoform X11

    14. XM_047449866.1XP_047305822.1  palladin isoform X12

    15. XM_024453940.2XP_024309708.1  palladin isoform X13

      Conserved Domains (4) summary
      cd00096
      Location:441444
      Ig; Ig strand A [structural motif]
      cd05892
      Location:540631
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cd05893
      Location:307398
      IgI_1_Palladin_C; First C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:441531
      Ig; Immunoglobulin domain
    16. XM_047449867.1XP_047305823.1  palladin isoform X14

    17. XM_047449868.1XP_047305824.1  palladin isoform X15

    18. XM_047449869.1XP_047305825.1  palladin isoform X16

    19. XM_047449870.1XP_047305826.1  palladin isoform X17

      Conserved Domains (3) summary
      cd05892
      Location:303394
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cd05893
      Location:70161
      IgI_1_Palladin_C; First C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains
      cd20990
      Location:204294
      IgI_2_Palladin_C; Second C-terminal immunoglobulin (Ig)-like domain of palladin; member of the I-set of Ig superfamily (IgSF) domains

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      171856045..172287862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)