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

Gene ID: 23022, updated on 8-Jul-2018
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; 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]
Expression
Ubiquitous expression in endometrium (RPKM 88.4), prostate (RPKM 49.6) and 23 other tissues See more
Orthologs
See PALLD in Genome Data Viewer
Location:
4q32.3
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (168497039..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 DExD/H-box helicase 60 Neighboring gene DExD/H-box 60 like Neighboring gene uncharacterized LOC107986198 Neighboring gene basic transcription factor 3 like 4 pseudogene 4 Neighboring gene uncharacterized LOC107986199 Neighboring gene RNA, U6 small nuclear 1336, pseudogene Neighboring gene ribosomal protein L9 pseudogene 16 Neighboring gene uncharacterized LOC102723331 Neighboring gene RNA, U6 small nuclear 853, pseudogene Neighboring gene uncharacterized LOC107986200 Neighboring gene carbonyl reductase 4 Neighboring gene RNA, Ro-associated Y4 pseudogene 17

  • 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 Jun 15 11:32:44 2016

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
 
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
cell migration 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
focal adhesion HDA PubMed 
growth cone IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 
ruffle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
palladin
Names
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
    Related
    ENSP00000425556.1, OTTHUMP00000219712, ENST00000505667.5, OTTHUMT00000363762
    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
    Related
    ENSP00000426947.1, OTTHUMP00000219714, ENST00000512127.5, OTTHUMT00000363770
    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
    ENSP00000424016.1, OTTHUMP00000219715, ENST00000507735.5, 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/Swiss-Prot
    Q8WX93
    UniProtKB/TrEMBL
    B2RTX2
    Related
    ENSP00000261509.6, OTTHUMP00000219711, ENST00000261509.10, OTTHUMT00000363761
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    168497039..168928457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262861.4XP_005262918.1  palladin isoform X4

    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_011531770.2XP_011530072.1  palladin isoform X3

    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
  3. XM_011531768.2XP_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
  4. XM_017007910.1XP_016863399.1  palladin isoform X5

  5. XM_011531769.2XP_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
  6. XM_011531771.2XP_011530073.1  palladin isoform X6

    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
  7. XM_011531772.2XP_011530074.1  palladin isoform X7

    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
  8. XM_011531773.1XP_011530075.1  palladin isoform X8

    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
  9. XM_011531774.1XP_011530076.1  palladin isoform X9

    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
  10. XM_017007911.1XP_016863400.1  palladin isoform X11

  11. XM_024453939.1XP_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_005262866.2XP_005262923.1  palladin isoform X10

    See identical proteins and their annotated locations for XP_005262923.1

    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_011531775.1XP_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
  14. XM_024453940.1XP_024309708.1  palladin isoform X12

    Conserved Domains (2) summary
    cd05893
    Location:557631
    Ig_Palladin_C; C-terminal immunoglobulin (Ig)-like domain of palladin
    pfam07679
    Location:441531
    I-set; Immunoglobulin I-set domain
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