NUDCD1 NudC domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NUDCD1provided by HGNC
Official Full Name: NudC domain containing 1provided by HGNC
Primary source: HGNC:HGNC:24306
See related: Ensembl:ENSG00000120526 MIM:606109; AllianceGenome:HGNC:24306
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: CML66; OVA66
Summary: Predicted to be involved in immune system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 6.8), placenta (RPKM 5.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q23.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (109240919..109334087, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (110369461..110462629, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (110253148..110346316, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identifying the role of NUDCD1 in human tumors from clinical and molecular mechanisms: a study based on comprehensive bioinformatics and experimental validation.
Title: Identifying the role of NUDCD1 in human tumors from clinical and molecular mechanisms: a study based on comprehensive bioinformatics and experimental validation.
NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.
Title: NudCD1 as a prognostic marker in colorectal cancer and its role in the upregulation of cellular spindle assembly checkpoint genes and LIS1 pathways.
NudCD1 Promotes the Proliferation and Metastasis of Non-Small Cell Lung Cancer Cells through the Activation of IGF1R-ERK1/2.
Title: NudCD1 Promotes the Proliferation and Metastasis of Non-Small Cell Lung Cancer Cells through the Activation of IGF1R-ERK1/2.
Analysis of NudCD1 and NF-kappaBeta in the early detection and course evaluation of renal cancer.
Title: Analysis of NudCD1 and NF-κΒ in the early detection and course evaluation of renal cancer.
NudCD1 significantly increased in renal cell carcinoma and was positively correlated with cell proliferation, migration, and invasion
Title: The impact of NudCD1 on renal carcinoma cell proliferation, migration, and invasion.
OVA66 overexpression in the cancer cell lines promoted VEGF secretion, tumour growth and angiogenesis in vitro and in vivo
Title: OVA66 promotes tumour angiogenesis and progression through enhancing autocrine VEGF-VEGFR2 signalling.
the different NudCD1 isoforms have unique interacting partners, with the first isoform binding to a putative RNA helicase named DHX15 involved in mRNA splicing.
Title: Protein interaction network of alternatively spliced NudCD1 isoforms.
study identified a novel gene, OVA66, which was expressed significantly higher in cancer patients than normal controls; IgG level against OVA66 was significantly elevated in the serum of cancer patients from different histological types of cancer [OVA66]
Title: Humoral immune responses against tumor-associated antigen OVA66 originally defined by serological analysis of recombinant cDNA expression libraries and its potentiality in cellular immunity.
CML66 may play an oncogenic role in ways of favoring tumor cells proliferation, invasion and metastasis-associated with multiple pathways.
Title: RNA interference targeting CML66, a novel tumor antigen, inhibits proliferation, invasion and metastasis of HeLa cells.
An alternative promoter (CML66-S short isoform) has been identified in combination with alternative splicing as a novel mechanism for regulation of the epitope generation of a self-tumor antigen.
Title: A novel mechanism of alternative promoter and splicing regulates the epitope generation of tumor antigen CML66-L.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121198 (e-PCR)
- UniSTS:134192

STS-AA009819 (e-PCR)
- UniSTS:11395

RH70342 (e-PCR)
- UniSTS:69037

RH98525 (e-PCR)
- UniSTS:83650

STS-N32587 (e-PCR)
- UniSTS:78028

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 immune system process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: nudC domain-containing protein 1

Names: chronic myelogenous leukemia tumor antigen 66; tumor antigen CML66

NP_001121683.1

EC 2.3.2.27

NP_116258.2

EC 2.3.2.27

XP_047278286.1

EC 2.3.2.27

XP_054217353.1

EC 2.3.2.27

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)

NM_001128211.2 → NP_001121683.1 nudC domain-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_001121683.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' CDS, compared to variant 1, resulting in a protein (isoform 2) with a shorter, distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC021237, AK307663, BC043406

Consensus CDS

CCDS47910.1

UniProtKB/Swiss-Prot

Q96RS6

Related

ENSP00000410707.2, ENST00000427660.6

Conserved Domains (1) summary

cd06493
Location:249 → 332

p23_NUDCD1_like; p23_NUDCD1: p23-like NUD (nuclear distribution) C-like domain found in human NUD (nuclear distribution) C domain-containing protein 1, NUDCD1 (also known as CML66), and similar proteins. NUDCD1/CML66 is a broadly immunogenic tumor associated antigen, ...
NM_032869.4 → NP_116258.2 nudC domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_116258.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC021237, AF283301, AK307663, BC043406

Consensus CDS

CCDS6312.1

UniProtKB/Swiss-Prot

B4DVX6, Q4G130, Q8NDQ5, Q8NG18, Q96RS6, Q96SI4, Q9BVR5

Related

ENSP00000239690.4, ENST00000239690.9

Conserved Domains (1) summary

cd06493
Location:278 → 361

p23_NUDCD1_like; p23_NUDCD1: p23-like NUD (nuclear distribution) C-like domain found in human NUD (nuclear distribution) C domain-containing protein 1, NUDCD1 (also known as CML66), and similar proteins. NUDCD1/CML66 is a broadly immunogenic tumor associated antigen, ...