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

Gene ID: 23022, updated on 3-Apr-2024

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
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Genomic context

See PALLD in Genome Data Viewer
Location:
4q32.3
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (168497052..168928441)
RS_2023_10 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 ATAC-STARR-seq lymphoblastoid active region 22124 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76106 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76110 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76113 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76114 Neighboring gene DExD/H-box 60 like Neighboring gene small nucleolar RNA SNORA51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22125 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:169408038-169409237 Neighboring gene uncharacterized LOC107986198 Neighboring gene uncharacterized LOC124900807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76181 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76192 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 H3K4me1 hESC enhancer GRCh37_chr4:169655047-169655546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:169654545-169655046 Neighboring gene NANOG hESC enhancer GRCh37_chr4:169656832-169657333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:169679045-169679545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22126 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:169724789-169725442 Neighboring gene ribosomal protein L9 pseudogene 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169737021-169737655 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:169737656-169738291 Neighboring gene uncharacterized LOC124900809 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169752834-169753694 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:169762142-169762656 Neighboring gene uncharacterized LOC102723331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:169798790-169799374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22127 Neighboring gene RNA, U6 small nuclear 853, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:169851979-169852480 Neighboring gene uncharacterized LOC107986200 Neighboring gene carbonyl reductase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169915462-169916268 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:169916269-169917074 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

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
 
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
 
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
 
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
 
involved_in keratinocyte development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
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)

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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
    Consensus CDS
    CCDS93667.1
    UniProtKB/TrEMBL
    A0A994J7A4
    Related
    ENSP00000516055.1, ENST00000704822.1
  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/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: GCF_000001405.40-RS_2023_10

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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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

    UniProtKB/Swiss-Prot
    B3KTG2, B5MD56, B7ZMM5, Q7L3E0, Q7Z3W0, Q86WE8, Q8N1M2, Q8WX93, Q9UGA0, Q9UQF5, Q9Y2J6, Q9Y3E9
    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)

mRNA and Protein(s)

  1. XM_054349339.1XP_054205314.1  palladin isoform X1

  2. XM_054349340.1XP_054205315.1  palladin isoform X2

  3. XM_054349343.1XP_054205318.1  palladin isoform X5

  4. XM_054349344.1XP_054205319.1  palladin isoform X6

  5. XM_054349345.1XP_054205320.1  palladin isoform X7

  6. XM_054349346.1XP_054205321.1  palladin isoform X8

  7. XM_054349347.1XP_054205322.1  palladin isoform X9

  8. XM_054349350.1XP_054205325.1  palladin isoform X10

  9. XM_054349341.1XP_054205316.1  palladin isoform X3

  10. XM_054349342.1XP_054205317.1  palladin isoform X4

  11. XM_054349349.1XP_054205324.1  palladin isoform X10

  12. XM_054349348.1XP_054205323.1  palladin isoform X10

  13. XM_054349351.1XP_054205326.1  palladin isoform X11

  14. XM_054349352.1XP_054205327.1  palladin isoform X12

  15. XM_054349353.1XP_054205328.1  palladin isoform X13

  16. XM_054349354.1XP_054205329.1  palladin isoform X14

  17. XM_054349355.1XP_054205330.1  palladin isoform X15

  18. XM_054349356.1XP_054205331.1  palladin isoform X16

  19. XM_054349357.1XP_054205332.1  palladin isoform X17