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NCALD neurocalcin delta [ Homo sapiens (human) ]

Gene ID: 83988, updated on 29-Mar-2023

Summary

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Official Symbol
NCALDprovided by HGNC
Official Full Name
neurocalcin deltaprovided by HGNC
Primary source
HGNC:HGNC:7655
See related
Ensembl:ENSG00000104490 MIM:606722; AllianceGenome:HGNC:7655
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 member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 22.6), salivary gland (RPKM 11.3) and 20 other tissues See more
Orthologs
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Genomic context

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See NCALD in Genome Data Viewer
Location:
8q22.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (101686542..102124907, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (102812429..103250775, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (102698770..103137135, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene grainyhead like transcription factor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:102659137-102659637 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102668311-102669171 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:102762302-102763501 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102799260-102799806 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102799807-102800353 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102903930-102904473 Neighboring gene uncharacterized LOC124901996 Neighboring gene PDCL3 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr8:102948047-102948548 Neighboring gene uncharacterized LOC104054148 Neighboring gene uncharacterized LOC124901997 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:103078318-103078896 Neighboring gene NANOG hESC enhancer GRCh37_chr8:103124713-103125214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:103144879-103145380 Neighboring gene microRNA 5680

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. Low expression of NCALD is associated with chemotherapy resistance and poor prognosis in epithelial ovarian cancer. Feng LY, et al. J Ovarian Res, 2020 Mar 30. PMID 32228639, Free PMC Article
  2. NCALD affects drug resistance and prognosis by acting as a ceRNA of CX3CL1 in ovarian cancer. Dong C, et al. J Cell Biochem, 2020 Nov. PMID 32030795
  3. High NCALD expression predicts poor prognosis of cytogenetic normal acute myeloid leukemia. Song Y, et al. J Transl Med, 2019 May 20. PMID 31109331, Free PMC Article
  4. Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy. Kamiyama M, et al. Hum Genet, 2007 Nov. PMID 17671797
  5. Molecular cloning, mapping and characterization of the human neurocalcin delta gene (NCALD). Wang W, et al. Biochim Biophys Acta, 2001 Mar 19. PMID 11267673

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NCALD affects drug resistance and prognosis by acting as a ceRNA of CX3CL1 in ovarian cancer.
    Title: NCALD affects drug resistance and prognosis by acting as a ceRNA of CX3CL1 in ovarian cancer.
  2. Low expression of NCALD is associated with chemotherapy resistance and poor prognosis in epithelial ovarian cancer.
    Title: Low expression of NCALD is associated with chemotherapy resistance and poor prognosis in epithelial ovarian cancer.
  3. high expression of NCALD gene is a poor prognostic factor for cytogenetic normal acute myeloid leukemia.
    Title: High NCALD expression predicts poor prognosis of cytogenetic normal acute myeloid leukemia.
  4. Coffee consumption is causally associated with an increased risk of osteoarthritis. SNPs in NCALD, POR, CYP1A1 and NRCAM were identified.
    Title: Investigating the possible causal association of coffee consumption with osteoarthritis risk using a Mendelian randomization analysis.
  5. Neurocalcin delta is a protective spinal muscular atrophy modifier in five asymptomatic SMN1-deleted individuals carrying only four SMN2 copies.
    Title: Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
  6. It is presumed that NCALD is related to diabetic nephropathy by promoting epithelial mesenchymal transform.
    Title: [Genetic study for diabetic microvascular complications--recent advances and future perspectives].
  7. 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.
  8. Studies show that a fold recognition based model of the catalytic domain of ROS-GC1 was built, and neurocalcin delta docking simulations were carried out to define the three-dimensional features of the interacting domains of the two molecules.
    Title: Neurocalcin delta modulation of ROS-GC1, a new model of Ca(2+) signaling.
  9. association of the landmark SNP with the progression of diabetic nephropathy in a 8-year prospective study
    Title: Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in the 3' UTR in the neurocalcin delta gene affect mRNA stability, and confer susceptibility to diabetic nephropathy.
Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Common genetic variation and performance on standardized cognitive tests.
EBI GWAS Catalog
Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment.
EBI GWAS Catalog
Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.
EBI GWAS Catalog

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

  • MGC33870, MGC74858

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables alpha-tubulin binding IEA
Inferred from Electronic Annotation
more info
  
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables clathrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of clathrin coat of trans-Golgi network vesicle NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
neurocalcin-delta

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_001040624.2 → NP_001035714.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes five untranslated exons at the 5' end.
    Source sequence(s)
    AP000426, AP001206, AP001328, AP001575
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  2. NM_001040625.2 → NP_001035715.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, BC063428, BM681731
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Related
    ENSP00000428105.1, ENST00000521599.5
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  3. NM_001040626.2 → NP_001035716.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, AP001206, AP001328, AP001575
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Related
    ENSP00000310587.3, ENST00000311028.4
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  4. NM_001040627.2 → NP_001035717.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035717.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, BC036098, BC063428, BM681731, DA417037
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  5. NM_001040628.2 → NP_001035718.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035718.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, BC063428, BM681731, DA417037, DA776593
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  6. NM_001040629.2 → NP_001035719.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035719.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, BC063428, BM681731, DA417037, DA779293
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  7. NM_001040630.2 → NP_001035720.1  neurocalcin-delta

    See identical proteins and their annotated locations for NP_001035720.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AP000426, BC063428, BM681731, DA215759, DB284042
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Related
    ENSP00000379256.1, ENST00000395923.5
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

  8. NM_032041.3 → NP_114430.2  neurocalcin-delta

    See identical proteins and their annotated locations for NP_114430.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1.
    Source sequence(s)
    AL136612, AP000426, BC063428, BM681731, DA211806
    Consensus CDS
    CCDS6292.1
    UniProtKB/Swiss-Prot
    P61601, Q9H0W2
    UniProtKB/TrEMBL
    B2RB70
    Related
    ENSP00000220931.6, ENST00000220931.11
    Conserved Domains (1) summary
    COG5126
    Location:14 → 179
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    101686542..102124907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422315.1 → XP_047278271.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  2. XM_047422305.1 → XP_047278261.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  3. XM_047422304.1 → XP_047278260.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  4. XM_047422317.1 → XP_047278273.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  5. XM_047422316.1 → XP_047278272.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  6. XM_047422303.1 → XP_047278259.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  7. XM_047422318.1 → XP_047278274.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  8. XM_047422311.1 → XP_047278267.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  9. XM_047422306.1 → XP_047278262.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  10. XM_047422307.1 → XP_047278263.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  11. XM_047422314.1 → XP_047278270.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  12. XM_047422313.1 → XP_047278269.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  13. XM_047422308.1 → XP_047278264.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  14. XM_047422312.1 → XP_047278268.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  15. XM_047422319.1 → XP_047278275.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

  16. XM_047422309.1 → XP_047278265.1  neurocalcin-delta isoform X1

    UniProtKB/Swiss-Prot
    Q9H0W2
    UniProtKB/TrEMBL
    B2RB70

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    102812429..103250775 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61601.2 GenPept UniProtKB/Swiss-Prot:P61601

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