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    NKAPD1 NKAP domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 55216, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NKAPD1provided by HGNC
    Official Full Name
    NKAP domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25569
    See related
    Ensembl:ENSG00000150776 AllianceGenome:HGNC:25569
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C11orf57
    Summary
    Enables identical protein binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NKAPD1 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112074299..112085150)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112084552..112095404)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111945023..111955874)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 893, pseudogene Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene PIH1 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111958561-111959094 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene ReSE screen-validated silencer GRCh37_chr11:111970495-111970703 Neighboring gene succinate dehydrogenase complex subunit D Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18793 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18795 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18799 Neighboring gene Sharpr-MPRA regulatory region 14451 Neighboring gene interleukin 18

    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. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    2. Insights into the ubiquitin-proteasome system of human embryonic stem cells. Saez I, et al. Sci Rep, 2018 Mar 6. PMID 29511261, Free PMC Article
    3. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922
    4. The in vivo Interaction Landscape of Histones H3.1 and H3.3. Siddaway R, et al. Mol Cell Proteomics, 2022 Oct. PMID 36089195, Free PMC Article
    5. Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity. Golkowski M, et al. Mol Cell, 2023 Mar 2. PMID 36736316, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10726

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein NKAPD1
    Names
    NKAP domain containing protein 1
    uncharacterized protein C11orf57

    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.

    mRNA and Protein(s)

    1. NM_001082969.2 → NP_001076438.1  uncharacterized protein NKAPD1 isoform a

      See identical proteins and their annotated locations for NP_001076438.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AB096251, BM670479, CD706604
      Consensus CDS
      CCDS8356.2
      Conserved Domains (1) summary
      pfam15692
      Location:86 → 147
      NKAP; NF-kappa-B-activating protein

    2. NM_001082970.2 → NP_001076439.1  uncharacterized protein NKAPD1 isoform b

      See identical proteins and their annotated locations for NP_001076439.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) lacks an internal aa, compared to isoform a.
      Source sequence(s)
      AK125340, AP002007, BM670479, EL736728
      Consensus CDS
      CCDS41715.1
      UniProtKB/Swiss-Prot
      Q5RL41, Q6IN53, Q6ZUT1, Q7Z357, Q8N2T3
      Related
      ENSP00000339076.7, ENST00000280352.13
      Conserved Domains (1) summary
      pfam15692
      Location:86 → 146
      NKAP; NF-kappa-B-activating protein

    3. NM_001301017.2 → NP_001287946.1  uncharacterized protein NKAPD1 isoform b

      See identical proteins and their annotated locations for NP_001287946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice junction at the 5' end of the last exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a. Variants 3 and 5 both encode the same isoform (b).
      Source sequence(s)
      AP002007, BC072455, BX538107, CD706604
      Consensus CDS
      CCDS41715.1
      UniProtKB/Swiss-Prot
      Q5RL41, Q6IN53, Q6ZUT1, Q7Z357, Q8N2T3
      Related
      ENSP00000402208.2, ENST00000420986.6
      Conserved Domains (1) summary
      pfam15692
      Location:86 → 146
      NKAP; NF-kappa-B-activating protein

    4. NM_001301019.2 → NP_001287948.1  uncharacterized protein NKAPD1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice junction at the 3' end of an exon and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AP002007, BX538107, CD244552, CD706604
      Consensus CDS
      CCDS73383.1
      UniProtKB/Swiss-Prot
      Q6ZUT1
      Related
      ENSP00000435408.1, ENST00000525785.5
      Conserved Domains (1) summary
      pfam15692
      Location:57 → 118
      NKAP; NF-kappa-B-activating protein

    5. NM_001301021.2 → NP_001287950.1  uncharacterized protein NKAPD1 isoform d

      See identical proteins and their annotated locations for NP_001287950.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses an alternate splice junction at the 3' end of an exon and an alternate in-frame exon at the 5' end of the last exon compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks a single internal aa compared to isoform a.
      Source sequence(s)
      AP002007, BX538107, DA813095
      UniProtKB/Swiss-Prot
      Q6ZUT1
      Conserved Domains (1) summary
      pfam15692
      Location:56 → 117
      NKAP; NF-kappa-B-activating protein

    6. NM_018195.4 → NP_060665.3  uncharacterized protein NKAPD1 isoform a

      See identical proteins and their annotated locations for NP_060665.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variant 2 both encode the same isoform (a).
      Source sequence(s)
      AP002007, BG115155, BM670479, CD706604, DT220380
      Consensus CDS
      CCDS8356.2
      Related
      ENSP00000376767.3, ENST00000393047.8
      Conserved Domains (1) summary
      pfam15692
      Location:86 → 147
      NKAP; NF-kappa-B-activating protein

    RNA

    1. NR_103469.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an additional segment in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB096251, BX538107, CD244552

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      112074299..112085150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427197.1 → XP_047283153.1  uncharacterized protein NKAPD1 isoform X1

    2. XM_047427198.1 → XP_047283154.1  uncharacterized protein NKAPD1 isoform X2

      UniProtKB/Swiss-Prot
      Q5RL41, Q6IN53, Q6ZUT1, Q7Z357, Q8N2T3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      112084552..112095404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369249.1 → XP_054225224.1  uncharacterized protein NKAPD1 isoform X1

    2. XM_054369250.1 → XP_054225225.1  uncharacterized protein NKAPD1 isoform X2

      UniProtKB/Swiss-Prot
      Q5RL41, Q6IN53, Q6ZUT1, Q7Z357, Q8N2T3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZUT1.2 GenPept UniProtKB/Swiss-Prot:Q6ZUT1

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