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Gene

NDC1

NDC1 transmembrane nucleoporin

Summary

Cytogenetic location
1p32.3
Coordinates
Chromosome 1: 53,765,478–53,838,296 (GRCh38)
Exons
18 exons across 72.8 kb
Protein
674 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ10407, NET3
Previous symbols
TMEM48
MANE Select transcript
ENST00000371429.4NM_018087.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Familial Glucocorticoid Deficiency

    • Triple-A syndromeAutosomal recessive

      Adrenal insufficiency from ACTH resistance together with absent tears and swallowing difficulty (achalasia), caused by AAAS variants.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NDC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 1, with a bracket where NDC1 sits. NDC1 and 16 genes near it on chromosome 1, from 53,301,887 to 54,301,886.Chromosome 11p32.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4453.4 Mb53.6 Mb53.8 Mb54 Mb54.2 MbLRP8: 53,242,364–53,328,469, reverse strandLRP8: 53,413,149–53,440,018, reverse strandDMRTB1: 53,459,391–53,467,488, forward strandDMRTB1GLIS1: 53,506,232–53,739,225, reverse strandGLIS1NDC1: 53,765,478–53,838,296, reverse strandNDC1YIPF1: 53,847,531–53,890,683, reverse strandYIPF1DIO1: 53,891,239–53,911,086, forward strandDIO1IFT25: 53,911,573–53,946,588, reverse strandIFT25LRRC42: 53,946,045–53,968,168, forward strandLRRC42LDLRAD1: 54,007,298–54,018,194, reverse strandLDLRAD1TMEM59: 54,026,681–54,053,504, reverse strandTMEM59TCEANC2: 54,052,867–54,112,524, forward strandTCEANC2: 54,132,686–54,200,073, reverse strandCDCP2: 54,132,687–54,153,770, reverse strandCDCP2CYB5RL: 54,169,646–54,200,073, reverse strandCYB5RLMRPL37: 54,184,041–54,225,489, forward strandMRPL37SSBP3: 54,225,313–54,413,479, reverse strandSSBP3Diagram of NDC1: 18 exons on the reverse strand of chromosome 1Exon 18: 53,765,478–53,768,033, 2,556 basesExon 17: 53,772,329–53,772,489, 161 basesExon 16: 53,787,158–53,787,258, 101 basesExon 15: 53,789,133–53,789,196, 64 basesExon 14: 53,793,229–53,793,279, 51 basesExon 13: 53,796,689–53,796,804, 116 basesExon 12: 53,796,899–53,797,144, 246 basesExon 11: 53,800,693–53,800,848, 156 basesExon 10: 53,803,928–53,804,009, 82 basesExon 9: 53,806,425–53,806,517, 93 basesExon 8: 53,807,656–53,807,791, 136 basesExon 7: 53,809,695–53,809,746, 52 basesExon 6: 53,818,971–53,819,079, 109 basesExon 5: 53,825,798–53,825,936, 139 basesExon 4: 53,827,999–53,828,173, 175 basesExon 3: 53,832,490–53,832,591, 102 basesExon 2: 53,835,500–53,835,620, 121 basesExon 1: 53,838,205–53,838,296, 92 bases1816141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.6 kb of the gene's 72.8 kb; 2,025 of those bases code for the protein.

How a genome test reads NDC1

1

position in NDC1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 72.8 kb of NDC1, introns included, not only the 4.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NDC1 gene: NDC1 transmembrane nucleoporin. Retrieved 17 October 2026, from https://dantelabs.com/genes/ndc1

Vancouver

Dante Labs. NDC1 gene: NDC1 transmembrane nucleoporin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ndc1

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