NOMO1

Chr 16

NODAL modulator 1

Also known as: Nomo, PM5

NCBI Gene: 23420 ENSG00000103512 UniProt: Q15155 OMIM: 609157

NOMO1 encodes a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into cellular membranes, taking over from the SEC61 complex to facilitate insertion of subsequent transmembrane regions. This gene is not well-established as a cause of human disease, with mutations in the nearby ABCC6 gene rather than NOMO1 being responsible for pseudoxanthoma elasticum. The gene shows minimal constraint against loss-of-function variants, suggesting it may be tolerant to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.02

Clinical Summary— NOMO1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

168 VUS of 207 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.02LOEUF

pLI 0.000

Z-score 1.43

OE 0.77 (0.59–1.02)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.52Z-score

OE missense 0.93 (0.86–1.01)

454 obs / 486.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.77 (0.59–1.02)

0≤0.351.4

Missense OE?0.93 (0.86–1.01)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 35 / 45.4Missense obs/exp: 454 / 486.1Syn Z: -1.19

ClinVar Variant Classifications

207 submitted variants in ClinVar

ClinVar

Classification Summary

VUS168

Likely Benign15

Benign1

168

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	168	0	0	168
Likely Benign	7	1	7	15
Benign	0	0	1	1
Total	175	1	8	184

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

89 pathogenic / likely-pathogenic (of 162) ClinVar copy-number / structural variants overlap NOMO1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →