U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 55216, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NKAPD1 in Genome Data Viewer
Location:
11q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (112074299..112085150)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (112084552..112095404)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 (30) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
uncharacterized protein NKAPD1
Names
NKAP domain containing protein 1
uncharacterized protein C11orf57

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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_2023_10

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

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous