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    WDR27 WD repeat domain 27 [ Homo sapiens (human) ]

    Gene ID: 253769, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WDR27provided by HGNC
    Official Full Name
    WD repeat domain 27provided by HGNC
    Primary source
    HGNC:HGNC:21248
    See related
    Ensembl:ENSG00000184465 MIM:620936; AllianceGenome:HGNC:21248
    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
    Summary
    This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
    Expression
    Ubiquitous expression in testis (RPKM 1.4), ovary (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WDR27 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    42
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (169426420..169702029, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (170780064..171055943, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (169857307..170102125, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169780895-169781395 Neighboring gene long intergenic non-protein coding RNA 2519 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:169795407-169796606 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:169811859-169812052 Neighboring gene uncharacterized LOC124901473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169829202-169829769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169849141-169850015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169850016-169850889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169952752-169953720 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:169956378-169956538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:169964074-169964574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170017112-170017650 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:170019030-170019674 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:170019675-170020319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170024255-170024754 Neighboring gene uncharacterized LOC124901471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170040667-170041282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170047131-170048124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25463 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170056229-170057024 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:170057025-170057820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170061015-170061514 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:170062913-170064112 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:170067058-170067246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170067590-170068090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170068091-170068591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:170092723-170093223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:170124719-170125261 Neighboring gene chromosome 6 open reading frame 120 Neighboring gene PHD finger protein 10 Neighboring gene MPRA-validated peak6328 silencer Neighboring gene dynein light chain Tctex-type 2 Neighboring gene ER membrane associated RNA degradation

    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
    • 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
    EBI GWAS Catalog
    Common genetic variation and the control of HIV-1 in humans.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC43690

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    WD repeat-containing protein 27

    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_046155.1 RefSeqGene

      Range
      5035..249852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1071

    mRNA and Protein(s)

    1. NM_001202550.2 → NP_001189479.1  WD repeat-containing protein 27 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three alternate exons that result in the loss of an in-frame segment in the 5' coding region, and lacks another alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL513547, AW194823, BC131633, DB292377
      Consensus CDS
      CCDS56459.1
      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Related
      ENSP00000397869.1, ENST00000423258.5
      Conserved Domains (3) summary
      COG2319
      Location:454 → 727
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:419 → 456
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:418 → 727
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_001350623.2 → NP_001337552.1  WD repeat-containing protein 27 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL031315, AL135910, AL513547
      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (2) summary
      sd00039
      Location:355 → 392
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:354 → 663
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. NM_001350624.2 → NP_001337553.1  WD repeat-containing protein 27 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 5, encodes isoform 4.
      Source sequence(s)
      AL513547
      Consensus CDS
      CCDS94039.1
      UniProtKB/TrEMBL
      A0A3B3ITF5
      Related
      ENSP00000497692.1, ENST00000647873.1
      Conserved Domains (2) summary
      sd00039
      Location:32 → 69
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:39 → 204
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. NM_001350625.2 → NP_001337554.1  WD repeat-containing protein 27 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform 4.
      Source sequence(s)
      AL513547
      Consensus CDS
      CCDS94039.1
      UniProtKB/TrEMBL
      A0A3B3ITF5
      Conserved Domains (2) summary
      sd00039
      Location:32 → 69
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:39 → 204
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. NM_182552.5 → NP_872358.4  WD repeat-containing protein 27 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL031315, AL513547, BC040606, DB292377
      Consensus CDS
      CCDS47520.2
      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Related
      ENSP00000416289.1, ENST00000448612.6
      Conserved Domains (4) summary
      COG2319
      Location:544 → 865
      WD40; WD40 repeat [General function prediction only]
      pfam13900
      Location:847 → 881
      GVQW; Putative domain of unknown function
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 842
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_146875.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL031315, AL135910, AL513547
      Related
      ENST00000648472.1

    2. NR_146876.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL513547
      Related
      ENST00000649303.1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      169426420..169702029 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535688.4 → XP_011533990.1  WD repeat-containing protein 27 isoform X6

      See identical proteins and their annotated locations for XP_011533990.1

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 853
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_011535687.4 → XP_011533989.1  WD repeat-containing protein 27 isoform X6

      See identical proteins and their annotated locations for XP_011533989.1

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 853
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    3. XM_017010669.2 → XP_016866158.1  WD repeat-containing protein 27 isoform X12

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (2) summary
      sd00039
      Location:355 → 392
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:354 → 663
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_017010660.3 → XP_016866149.1  WD repeat-containing protein 27 isoform X5

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:581 → 854
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 854
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_011535691.4 → XP_011533993.1  WD repeat-containing protein 27 isoform X7

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:579 → 838
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    6. XM_047418584.1 → XP_047274540.1  WD repeat-containing protein 27 isoform X3

    7. XM_011535692.4 → XP_011533994.1  WD repeat-containing protein 27 isoform X8

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 842
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    8. XM_011535685.4 → XP_011533987.1  WD repeat-containing protein 27 isoform X4

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:579 → 838
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    9. XM_011535682.4 → XP_011533984.1  WD repeat-containing protein 27 isoform X1

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 885
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 842
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    10. XM_011535684.4 → XP_011533986.1  WD repeat-containing protein 27 isoform X2

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 838
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:546 → 583
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:545 → 842
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    11. XM_047418586.1 → XP_047274542.1  WD repeat-containing protein 27 isoform X11

    12. XM_011535693.4 → XP_011533995.1  WD repeat-containing protein 27 isoform X9

      UniProtKB/Swiss-Prot
      A2RRH5, A5PLM8, C9JGV0, Q5T066
      Conserved Domains (3) summary
      COG2319
      Location:544 → 750
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:32 → 69
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:48 → 266
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    13. XM_047418585.1 → XP_047274541.1  WD repeat-containing protein 27 isoform X10

    14. XM_047418587.1 → XP_047274543.1  WD repeat-containing protein 27 isoform X13

    15. XM_017010672.3 → XP_016866161.1  WD repeat-containing protein 27 isoform X14

    16. XM_011535697.4 → XP_011533999.1  WD repeat-containing protein 27 isoform X17

      Conserved Domains (3) summary
      COG2319
      Location:15 → 356
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:32 → 69
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:48 → 266
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    17. XM_047418590.1 → XP_047274546.1  WD repeat-containing protein 27 isoform X16

    18. XM_047418588.1 → XP_047274544.1  WD repeat-containing protein 27 isoform X15

    19. XM_047418589.1 → XP_047274545.1  WD repeat-containing protein 27 isoform X16

    RNA

    1. XR_007059231.1 RNA Sequence

    2. XR_007059230.1 RNA Sequence

    3. XR_007059233.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      170780064..171055943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355043.1 → XP_054211018.1  WD repeat-containing protein 27 isoform X6

    2. XM_054355042.1 → XP_054211017.1  WD repeat-containing protein 27 isoform X6

    3. XM_054355049.1 → XP_054211024.1  WD repeat-containing protein 27 isoform X12

    4. XM_054355041.1 → XP_054211016.1  WD repeat-containing protein 27 isoform X5

    5. XM_054355044.1 → XP_054211019.1  WD repeat-containing protein 27 isoform X7

    6. XM_054355040.1 → XP_054211015.1  WD repeat-containing protein 27 isoform X3

    7. XM_054355045.1 → XP_054211020.1  WD repeat-containing protein 27 isoform X8

    8. XM_054355038.1 → XP_054211013.1  WD repeat-containing protein 27 isoform X1

    9. XM_054355039.1 → XP_054211014.1  WD repeat-containing protein 27 isoform X2

    10. XM_054355048.1 → XP_054211023.1  WD repeat-containing protein 27 isoform X11

    11. XM_054355046.1 → XP_054211021.1  WD repeat-containing protein 27 isoform X9

    12. XM_054355047.1 → XP_054211022.1  WD repeat-containing protein 27 isoform X10

    13. XM_054355050.1 → XP_054211025.1  WD repeat-containing protein 27 isoform X13

    14. XM_054355051.1 → XP_054211026.1  WD repeat-containing protein 27 isoform X14

    15. XM_054355055.1 → XP_054211030.1  WD repeat-containing protein 27 isoform X17

    16. XM_054355054.1 → XP_054211029.1  WD repeat-containing protein 27 isoform X16

    17. XM_054355052.1 → XP_054211027.1  WD repeat-containing protein 27 isoform X15

    18. XM_054355053.1 → XP_054211028.1  WD repeat-containing protein 27 isoform X16

    RNA

    1. XR_008487290.1 RNA Sequence

    2. XR_008487289.1 RNA Sequence

    3. XR_008487291.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2RRH5.3 GenPept UniProtKB/Swiss-Prot:A2RRH5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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