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NDC1 NDC1 transmembrane nucleoporin [ Homo sapiens (human) ]

Gene ID: 55706, updated on 25-Jan-2022

Summary

Official Symbol
NDC1provided by HGNC
Official Full Name
NDC1 transmembrane nucleoporinprovided by HGNC
Primary source
HGNC:HGNC:25525
See related
Ensembl:ENSG00000058804 MIM:610115; AllianceGenome:HGNC:25525
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
NET3; TMEM48
Summary
A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See NDC1 in Genome Data Viewer
Location:
1p32.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (53765478..53838296, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (54231151..54303969, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene GLIS family zinc finger 1 Neighboring gene Sharpr-MPRA regulatory region 11088 Neighboring gene RNA, U7 small nuclear 95 pseudogene Neighboring gene ribosomal protein L37 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 6831 Neighboring gene Yip1 domain family member 1

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10407, FLJ12556, FLJ34120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein-macromolecule adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables structural constituent of nuclear pore IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
involved_in homologous chromosome pairing at meiosis IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA transport IEA
Inferred from Electronic Annotation
more info
 
involved_in nuclear pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear pore localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nuclear pore organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear envelope TAS
Traceable Author Statement
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
part_of nuclear pore IDA
Inferred from Direct Assay
more info
PubMed 
part_of nuclear pore transmembrane ring IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
nucleoporin NDC1
Names
nuclear division cycle 1 homolog
transmembrane protein 48

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_001168551.2NP_001162023.1  nucleoporin NDC1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK295000, AL354612, BC003082
    UniProtKB/Swiss-Prot
    Q9BTX1
    Conserved Domains (1) summary
    pfam09531
    Location:20626
    Ndc1_Nup; Nucleoporin protein Ndc1-Nup
  2. NM_018087.5NP_060557.3  nucleoporin NDC1 isoform 1

    See identical proteins and their annotated locations for NP_060557.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL049745, AL354612, BC003082
    Consensus CDS
    CCDS583.1
    UniProtKB/Swiss-Prot
    Q9BTX1
    Related
    ENSP00000360483.3, ENST00000371429.4
    Conserved Domains (1) summary
    pfam09531
    Location:20666
    Ndc1_Nup; Nucleoporin protein Ndc1-Nup

RNA

  1. NR_033142.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK298909, AL354612, BC003082

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    53765478..53838296 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541766.2XP_011540068.1  nucleoporin NDC1 isoform X1

    Conserved Domains (1) summary
    pfam09531
    Location:18665
    Ndc1_Nup; Nucleoporin protein Ndc1-Nup
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