NCDN neurochondrin [Homo sapiens] - Gene

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Summary

Official Symbol: NCDNprovided by HGNC
Official Full Name: neurochondrinprovided by HGNC
Primary source: HGNC:17597
See related: Ensembl:ENSG00000020129; HPRD:10530; MIM:608458; Vega:OTTHUMG00000059204
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
Also known as: KIAA0607
Summary: This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 1p34.3

Sequence :: Chromosome: 1; NC_000001.10 (36023393..36032380)

See NCDN in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
In mouse, the encoded protein is a negative regulator of Ca/calmodulin-dependent protein kinase II phosphorylation and is essential for the spatial learning process.
Title: Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Neurochondrin	Q99698	LYST	HPRD	PubMed
Neurochondrin	Q9C0C4	SEMA4C	HPRD	PubMed
BioGRID:116768	BioGRID:107552	LYST	BioGRID	PubMed	Two-hybrid
BioGRID:116768	BioGRID:228650	Prpf8	BioGRID	PubMed	Affinity Capture-MS
BioGRID:116768	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
bone resorption	IEA Inferred from Electronic Annotation more info
neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
regulation of neuronal synaptic plasticity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
NOT axon	ISS Inferred from Sequence or Structural Similarity more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	ISS Inferred from Sequence or Structural Similarity more info
dendrite	ISS Inferred from Sequence or Structural Similarity more info
neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
NOT nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: neurochondrin

Names: neurochondrin

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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)

NM_001014839.1 → NP_001014839.1 neurochondrin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as NCDN-1, encodes the longer isoform (1).

Source sequence(s)

AB018739, AL536768, AW207151, BC024592

Consensus CDS

CCDS392.1

UniProtKB/Swiss-Prot

Q9UBB6

Related

ENSP00000348394, OTTHUMP00000065369, ENST00000356090, OTTHUMT00000131296

Conserved Domains (1) summary

pfam05536
Location:30 – 552
Blast Score: 1408

Neurochondrin; Neurochondrin
NM_001014841.1 → NP_001014841.1 neurochondrin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2), also known as NCDN-2, contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.

Source sequence(s)

AB018740, AL536768, AW207151, BC024592

Consensus CDS

CCDS30672.1

UniProtKB/Swiss-Prot

Q9UBB6

Related

ENSP00000362350, OTTHUMP00000065370, ENST00000373253, OTTHUMT00000131297

Conserved Domains (1) summary

pfam05536
Location:13 – 535
Blast Score: 1410

Neurochondrin; Neurochondrin
NM_014284.2 → NP_055099.1 neurochondrin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AL536768, AW207151, BC024592, BI545092

Consensus CDS

CCDS392.1

UniProtKB/Swiss-Prot

Q9UBB6

Related

ENSP00000362340, OTTHUMP00000065371, ENST00000373243, OTTHUMT00000131298

Conserved Domains (1) summary

pfam05536
Location:30 – 552
Blast Score: 1408

Neurochondrin; Neurochondrin

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

36023393..36032380

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

34141832..34150633

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB027514.2	BAA77830.1
		BAA77831.1
genomic	AC004865.1	AAD05029.1
genomic	CH471059.2	EAX07410.1
		EAX07411.1
		EAX07412.1
mRNA	AB011179.1	BAA25533.1
mRNA	AB018739.2	BAA85384.2
mRNA	AB018740.2	BAA85385.2
mRNA	AK295979.1	BAG58754.1
mRNA	AL536768.3	None
mRNA	AW207151.1	None
mRNA	BC024592.1	AAH24592.1
mRNA	BI545092.1	None
other-genetic	DQ891150.2	ABM82076.1
other-genetic	DQ894330.2	ABM85256.1