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    WIPF1 WAS/WASL interacting protein family member 1 [ Homo sapiens (human) ]

    Gene ID: 7456, updated on 28-Oct-2024

    Summary

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    Official Symbol
    WIPF1provided by HGNC
    Official Full Name
    WAS/WASL interacting protein family member 1provided by HGNC
    Primary source
    HGNC:HGNC:12736
    See related
    Ensembl:ENSG00000115935 MIM:602357; AllianceGenome:HGNC:12736
    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
    WIP; WAS2; PRPL-2; WASPIP
    Summary
    This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 61.9), appendix (RPKM 50.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WIPF1 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174559574..174682913, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175048279..175171613, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175424302..175547641, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906097 Neighboring gene uncharacterized LOC124906096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16775 Neighboring gene RNA, U6 small nuclear 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12127 Neighboring gene RNA, U7 small nuclear 44 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175469433-175469934 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175469935-175470434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16784 Neighboring gene uncharacterized LOC124907907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12129 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175578156-175578368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175594551-175595290 Neighboring gene H3 histone pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12130 Neighboring gene Sharpr-MPRA regulatory region 14969 Neighboring gene cholinergic receptor nicotinic alpha 1 subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Formation of a WIP-, WASp-, actin-, and myosin IIA-containing multiprotein complex in activated NK cells and its alteration by KIR inhibitory signaling. Krzewski K, et al. J Cell Biol, 2006 Apr 10. PMID 16606694, Free PMC Article
    2. Crosstalk between WIP and Rho family GTPases. Antón IM, et al. Small GTPases, 2020 May. PMID 29172947, Free PMC Article
    3. Hematopoietic stem cell transplantation corrects WIP deficiency. Al-Mousa H, et al. J Allergy Clin Immunol, 2017 Mar. PMID 27742395
    4. WIP is essential for lytic granule polarization and NK cell cytotoxicity. Krzewski K, et al. Proc Natl Acad Sci U S A, 2008 Feb 19. PMID 18258743, Free PMC Article
    5. WASP-interacting protein (WIP): working in polymerisation and much more. Antón IM, et al. Trends Cell Biol, 2007 Nov. PMID 17949983

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.
      Title: DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.
    2. Crosstalk between WIP and Rho family GTPases.
      Title: Crosstalk between WIP and Rho family GTPases.
    3. PD-L1 promotes tumor growth and progression by activating WIP and beta-catenin signaling pathways and predicts poor prognosis in lung cancer.
      Title: PD-L1 promotes tumor growth and progression by activating WIP and β-catenin signaling pathways and predicts poor prognosis in lung cancer.
    4. The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View.
      Title: The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View.
    5. Authors identified WIPF1 as an oncoprotein in PDAC and a direct target of miR-141/miR-200c. They also defined the miR-141/200c-WIPF1-YAP/TAZ as a novel signaling pathway that is involved in the regulation of the invasion and metastasis of human PDAC cells.
      Title: WIPF1 antagonizes the tumor suppressive effect of miR-141/200c and is associated with poor survival in patients with PDAC.
    6. WIP deficiency should be considered as a cause for autosomal-recessive immunodeficiency
      Title: Hematopoietic stem cell transplantation corrects WIP deficiency.
    7. WIP residues 454-456 are the major contributor to WASp affinity, and residues 449-451 were found to have the largest effect upon WASp ubiquitylation and, presumably, degradation.
      Title: New Structural Insights into Formation of the Key Actin Regulating WIP-WASp Complex Determined by NMR and Molecular Imaging.
    8. the present study identifies the WIPF1 gene as having novel oncogenic functions and playing an important role in the invasiveness and aggressiveness of thyroid cancer when aberrantly up-regulated by the BRAF V600E/MAPK pathway through its promoter demethylation.
      Title: Epigenetically upregulated WIPF1 plays a major role in BRAF V600E-promoted papillary thyroid cancer aggressiveness.
    9. WIP controls tumor growth by boosting signals that stabilize the YAP/TAZ complex via a mechanism mediated by the endocytic/endosomal system.
      Title: WIP Drives Tumor Progression through YAP/TAZ-Dependent Autonomous Cell Growth.
    10. Results suggest that local invasiveness of ameloblastoma is dependent upon the migratory potential of its tumour cells as defined by their distribution of cortactin, N-WASP and WIP in correlation with F-actin cytoskeletal dynamics.
      Title: Invadopodia proteins, cortactin, N-WASP and WIP differentially promote local invasiveness in ameloblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Wiskott-Aldrich syndrome 2
    MedGen: C3281001 OMIM: 614493 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables profilin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein folding chaperone EXP
    Inferred from Experiment
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in actin polymerization or depolymerization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein folding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to other organism IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in actin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    WAS/WASL-interacting protein family member 1
    Names
    WASP-interacting protein
    Wiskott-Aldrich syndrome protein interacting protein
    protein PRPL-2
    testicular tissue protein Li 226

    NCBI Reference Sequences (RefSeq)

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    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_032009.1 RefSeqGene

      Range
      5001..128326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_374

    mRNA and Protein(s)

    1. NM_001077269.1 → NP_001070737.1  WAS/WASL-interacting protein family member 1 isoform a

      See identical proteins and their annotated locations for NP_001070737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform a.
      Source sequence(s)
      AA903457, AL529597, AL832275, BC002914, BC045584, BC110288, BM475558, BX640870
      Consensus CDS
      CCDS2260.1
      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9, A0A8V8TNJ8
      Related
      ENSP00000352802.3, ENST00000359761.7
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    2. NM_001375832.1 → NP_001362761.1  WAS/WASL-interacting protein family member 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform a.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS2260.1
      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9, A0A8V8TNJ8
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    3. NM_001375833.1 → NP_001362762.1  WAS/WASL-interacting protein family member 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS2260.1
      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9, A0A8V8TNJ8
      Related
      ENSP00000513882.1, ENST00000698701.1
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    4. NM_001375834.1 → NP_001362763.1  WAS/WASL-interacting protein family member 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS2260.1
      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9, A0A8V8TNJ8
      Related
      ENSP00000503603.1, ENST00000679041.1
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    5. NM_001375835.1 → NP_001362764.1  WAS/WASL-interacting protein family member 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (b).
      Source sequence(s)
      AC010894, AC104595
      Consensus CDS
      CCDS92901.1
      UniProtKB/TrEMBL
      A0A8V8TNJ8
      Related
      ENSP00000272746.5, ENST00000272746.9
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    6. NM_001375836.1 → NP_001362765.1  WAS/WASL-interacting protein family member 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 8 and 9, encodes isoform c.
      Source sequence(s)
      AC010894, AC104595
      Consensus CDS
      CCDS92900.1
      UniProtKB/TrEMBL
      B4E2B2, E9PB87
      Related
      ENSP00000387150.3, ENST00000409415.7
      Conserved Domains (1) summary
      cd22076
      Location:29 → 60
      WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

    7. NM_001375837.1 → NP_001362766.1  WAS/WASL-interacting protein family member 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 7 and 9, encodes isoform c.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS92900.1
      UniProtKB/TrEMBL
      B4E2B2, E9PB87
      Conserved Domains (1) summary
      cd22076
      Location:29 → 60
      WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

    8. NM_001375838.1 → NP_001362767.1  WAS/WASL-interacting protein family member 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 7 and 8, encodes isoform c.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS92900.1
      UniProtKB/TrEMBL
      B4E2B2, E9PB87
      Conserved Domains (1) summary
      cd22076
      Location:29 → 60
      WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

    9. NM_001375839.1 → NP_001362768.1  WAS/WASL-interacting protein family member 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC010894

    10. NM_003387.5 → NP_003378.3  WAS/WASL-interacting protein family member 1 isoform a

      See identical proteins and their annotated locations for NP_003378.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), as well as variants 2-5, encodes isoform a.
      Source sequence(s)
      AC010894
      Consensus CDS
      CCDS2260.1
      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9, A0A8V8TNJ8
      Related
      ENSP00000376330.2, ENST00000392547.6
      Conserved Domains (1) summary
      pfam02205
      Location:31 → 55
      WH2; WH2 motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      174559574..174682913 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445756.1 → XP_047301712.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    2. XM_047445755.1 → XP_047301711.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    3. XM_047445749.1 → XP_047301705.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    4. XM_047445754.1 → XP_047301710.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    5. XM_047445753.1 → XP_047301709.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    6. XM_047445757.1 → XP_047301713.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    7. XM_047445751.1 → XP_047301707.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    8. XM_047445752.1 → XP_047301708.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    9. XM_047445750.1 → XP_047301706.1  WAS/WASL-interacting protein family member 1 isoform X1

      UniProtKB/Swiss-Prot
      B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
      UniProtKB/TrEMBL
      A0A140VJZ9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      175048279..175171613 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343767.1 → XP_054199742.1  WAS/WASL-interacting protein family member 1 isoform X1

    2. XM_054343766.1 → XP_054199741.1  WAS/WASL-interacting protein family member 1 isoform X1

    3. XM_054343759.1 → XP_054199734.1  WAS/WASL-interacting protein family member 1 isoform X1

    4. XM_054343765.1 → XP_054199740.1  WAS/WASL-interacting protein family member 1 isoform X1

    5. XM_054343764.1 → XP_054199739.1  WAS/WASL-interacting protein family member 1 isoform X1

    6. XM_054343768.1 → XP_054199743.1  WAS/WASL-interacting protein family member 1 isoform X1

    7. XM_054343762.1 → XP_054199737.1  WAS/WASL-interacting protein family member 1 isoform X1

    8. XM_054343763.1 → XP_054199738.1  WAS/WASL-interacting protein family member 1 isoform X1

    9. XM_054343760.1 → XP_054199735.1  WAS/WASL-interacting protein family member 1 isoform X1

    10. XM_054343761.1 → XP_054199736.1  WAS/WASL-interacting protein family member 1 isoform X1

    11. XM_054343758.1 → XP_054199733.1  WAS/WASL-interacting protein family member 1 isoform X1

    12. XM_054343770.1 → XP_054199745.1  WAS/WASL-interacting protein family member 1 isoform X2

      UniProtKB/TrEMBL
      Q2YDC4

    13. XM_054343769.1 → XP_054199744.1  WAS/WASL-interacting protein family member 1 isoform X2

      UniProtKB/TrEMBL
      Q2YDC4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43516.3 GenPept UniProtKB/Swiss-Prot:O43516

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