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NCKAP5L NCK associated protein 5 like [ Homo sapiens (human) ]

Gene ID: 57701, updated on 5-Mar-2024

Summary

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Official Symbol
NCKAP5Lprovided by HGNC
Official Full Name
NCK associated protein 5 likeprovided by HGNC
Primary source
HGNC:HGNC:29321
See related
Ensembl:ENSG00000167566 MIM:615104; AllianceGenome:HGNC:29321
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
Cep169; FP1193; KIAA1602
Summary
Involved in microtubule bundle formation and microtubule depolymerization. Located in centrosome and microtubule plus-end. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 5.5), testis (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49791152..49828413, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49754152..49791427, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50184935..50222196, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50134965-50135656 Neighboring gene transmembrane BAX inhibitor motif containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6332 Neighboring gene MPRA-validated peak1728 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6334 Neighboring gene LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50184530-50185372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50195140-50195640 Neighboring gene nuclear-encoded mitochondrial tRNA-Gln (TTG) 6-1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50218728-50219594 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50219595-50220461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6335 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50222070-50222648 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50222649-50223227 Neighboring gene BCDIN3D antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6337 Neighboring gene BCDIN3 domain containing RNA methyltransferase Neighboring gene ribosomal protein L35a pseudogene 28

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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Related articles in PubMed

  1. Identification of Cep169-interacting proteins and the in vivo modification sites of Cep169 via proteomic analysis. Shintomi M, et al. Biochem Biophys Res Commun, 2018 Jan 15. PMID 29269292
  2. Phosphorylation of the centrosomal protein, Cep169, by Cdk1 promotes its dissociation from centrosomes in mitosis. Mori Y, et al. Biochem Biophys Res Commun, 2015 Dec 25. PMID 26549230
  3. Cep169, a Novel Microtubule Plus-End-Tracking Centrosomal Protein, Binds to CDK5RAP2 and Regulates Microtubule Stability. Mori Y, et al. PLoS One, 2015. PMID 26485573, Free PMC Article
  4. mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells. Merle DA, et al. Antioxidants (Basel), 2021 Dec 3. PMID 34943047, Free PMC Article
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Our findings suggest that Cep169 regulates cell growth by interacting with multiple proteins.
    Title: Identification of Cep169-interacting proteins and the in vivo modification sites of Cep169 via proteomic analysis.
  2. These results show that Cep169 targets microtubule tips and regulates stability of microtubules with CDK5RAP2.
    Title: Cep169, a Novel Microtubule Plus-End-Tracking Centrosomal Protein, Binds to CDK5RAP2 and Regulates Microtubule Stability.
  3. These data suggest that the dissociation of Cep169 from centrosomes is controlled by Cdk1/Cyclin B during mitosis, and that Cep169 might regulate MT dynamics of mitotic spindle.
    Title: Phosphorylation of the centrosomal protein, Cep169, by Cdk1 promotes its dissociation from centrosomes in mitosis.
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

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

  • FLJ36581, KIAA1602, MGC129863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule bundle formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in microtubule depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microtubule depolymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microtubule plus-end IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nck-associated protein 5-like
Names
NCKAP5-like
centrosomal protein of 169 kDa

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_001037806.4 → NP_001032895.2  nck-associated protein 5-like

    See identical proteins and their annotated locations for NP_001032895.2

    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 protein.
    Source sequence(s)
    AC131157, BC033253, BU617503, BX327000, CN359941, CN359946
    Consensus CDS
    CCDS41781.2
    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0
    Related
    ENSP00000337998.6, ENST00000335999.7
    Conserved Domains (1) summary
    pfam15246
    Location:879 → 1183
    NCKAP5; Nck-associated protein 5, Peripheral clock protein

  2. NM_001368048.1 → NP_001354977.1  nck-associated protein 5-like

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC131157
    Consensus CDS
    CCDS41781.2
    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    49791152..49828413 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719525.3 → XP_006719588.1  nck-associated protein 5-like isoform X1

    See identical proteins and their annotated locations for XP_006719588.1

    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0
    Conserved Domains (1) summary
    pfam15246
    Location:879 → 1183
    NCKAP5; Nck-associated protein 5, Peripheral clock protein

  2. XM_005269050.4 → XP_005269107.1  nck-associated protein 5-like isoform X2

    Conserved Domains (1) summary
    pfam15246
    Location:879 → 1183
    NCKAP5; Nck-associated protein 5, Peripheral clock protein

  3. XM_047429230.1 → XP_047285186.1  nck-associated protein 5-like isoform X2

  4. XM_011538611.3 → XP_011536913.1  nck-associated protein 5-like isoform X1

    See identical proteins and their annotated locations for XP_011536913.1

    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0
    Conserved Domains (1) summary
    pfam15246
    Location:879 → 1183
    NCKAP5; Nck-associated protein 5, Peripheral clock protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    49754152..49791427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372712.1 → XP_054228687.1  nck-associated protein 5-like isoform X2

  2. XM_054372710.1 → XP_054228685.1  nck-associated protein 5-like isoform X1

    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0

  3. XM_054372713.1 → XP_054228688.1  nck-associated protein 5-like isoform X2

  4. XM_054372711.1 → XP_054228686.1  nck-associated protein 5-like isoform X1

    UniProtKB/Swiss-Prot
    Q2TB26, Q71RH1, Q8N4W1, Q96HX2, Q9HCH0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCH0.4 GenPept UniProtKB/Swiss-Prot:Q9HCH0

Gene LinkOut

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