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NCKAP5 NCK associated protein 5 [ Homo sapiens (human) ]

Gene ID: 344148, updated on 17-Jun-2019

Summary

Official Symbol
NCKAP5provided by HGNC
Official Full Name
NCK associated protein 5provided by HGNC
Primary source
HGNC:HGNC:29847
See related
Ensembl:ENSG00000176771 MIM:608789
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
NAP5; ERIH1; ERIH2
Expression
Broad expression in lung (RPKM 2.7), kidney (RPKM 0.7) and 20 other tissues See more
Orthologs

Genomic context

See NCKAP5 in Genome Data Viewer
Location:
2q21.2
Exon count:
30
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (132671788..133675182, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (133429361..134399118, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 39 Neighboring gene RN7SK pseudogene 103 Neighboring gene uncharacterized LOC105373623 Neighboring gene LY6/PLAUR domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 3189 Neighboring gene uncharacterized LOC112268439 Neighboring gene NCKAP5 antisense RNA 1 Neighboring gene NCKAP5 antisense RNA 2 Neighboring gene RNA, U6 small nuclear 579, pseudogene Neighboring gene NCKAP5 intron CAGE-defined mid-level expression enhancer Neighboring gene RN7SK pseudogene 154 Neighboring gene RN7SK pseudogene 93 Neighboring gene uncharacterized LOC105373627 Neighboring gene uncharacterized LOC105373628

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.
NHGRI GWA Catalog
A genome-wide association study of brain lesion distribution in multiple sclerosis.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
NHGRI GWA Catalog
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
NHGRI GWA Catalog
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34870

Gene Ontology Provided by GOA

Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
nck-associated protein 5
Names
NAP-5
peripheral clock protein 2

NCBI Reference Sequences (RefSeq)

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_207363.3NP_997246.2  nck-associated protein 5 isoform 1

    See identical proteins and their annotated locations for NP_997246.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC010974, AC011243, AK057980, AK092189, AK124659, AY946008, CA438539
    Consensus CDS
    CCDS46418.1
    UniProtKB/Swiss-Prot
    O14513
    Related
    ENSP00000387128.1, ENST00000409261.6
    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_207481.4NP_997364.3  nck-associated protein 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several segments in the coding region but maintains the reading frame, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AC010974, AC011243, AK057980, AK092189, AK124659, AY946007, CA438539
    Consensus CDS
    CCDS46417.1
    UniProtKB/Swiss-Prot
    O14513
    Related
    ENSP00000386952.1, ENST00000409213.5
    Conserved Domains (2) summary
    pfam15246
    Location:365457
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32123
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    132671788..133675182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003975.2XP_016859464.1  nck-associated protein 5 isoform X1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. XM_011511100.3XP_011509402.1  nck-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_011509402.1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_005263660.4XP_005263717.1  nck-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005263717.1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  4. XM_011511099.3XP_011509401.1  nck-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_011509401.1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  5. XM_005263659.4XP_005263716.1  nck-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005263716.1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  6. XM_017003976.2XP_016859465.1  nck-associated protein 5 isoform X2

    Conserved Domains (3) summary
    pfam07321
    Location:7137
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14431751
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:7133
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  7. XM_011511097.3XP_011509399.1  nck-associated protein 5 isoform X1

    See identical proteins and their annotated locations for XP_011509399.1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  8. XM_017003979.2XP_016859468.1  nck-associated protein 5 isoform X5

  9. XM_017003974.1XP_016859463.1  nck-associated protein 5 isoform X1

    Conserved Domains (3) summary
    pfam07321
    Location:32162
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14681776
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:32158
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  10. XM_011511104.1XP_011509406.1  nck-associated protein 5 isoform X3

    See identical proteins and their annotated locations for XP_011509406.1

    Conserved Domains (2) summary
    pfam15246
    Location:14001708
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:290
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  11. XM_011511102.2XP_011509404.1  nck-associated protein 5 isoform X2

    See identical proteins and their annotated locations for XP_011509404.1

    Conserved Domains (3) summary
    pfam07321
    Location:7137
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14431751
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:7133
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  12. XM_011511101.1XP_011509403.1  nck-associated protein 5 isoform X2

    See identical proteins and their annotated locations for XP_011509403.1

    Conserved Domains (3) summary
    pfam07321
    Location:7137
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14431751
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:7133
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  13. XM_017003977.2XP_016859466.1  nck-associated protein 5 isoform X2

    Conserved Domains (3) summary
    pfam07321
    Location:7137
    YscO; Type III secretion protein YscO
    pfam15246
    Location:14431751
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:7133
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  14. XM_017003980.1XP_016859469.1  nck-associated protein 5 isoform X6

    UniProtKB/Swiss-Prot
    O14513
    Conserved Domains (2) summary
    pfam15246
    Location:297389
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:255
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  15. XM_011511103.2XP_011509405.1  nck-associated protein 5 isoform X3

    See identical proteins and their annotated locations for XP_011509405.1

    Conserved Domains (2) summary
    pfam15246
    Location:14001708
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:290
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  16. XM_011511105.2XP_011509407.1  nck-associated protein 5 isoform X3

    See identical proteins and their annotated locations for XP_011509407.1

    Conserved Domains (2) summary
    pfam15246
    Location:14001708
    NCKAP5; Nck-associated protein 5, Peripheral clock protein
    cl23720
    Location:290
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  17. XM_017003978.2XP_016859467.1  nck-associated protein 5 isoform X4

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