CYSTM1 cysteine rich transmembrane module containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYSTM1provided by HGNC
Official Full Name: cysteine rich transmembrane module containing 1provided by HGNC
Primary source: HGNC:HGNC:30239
See related: Ensembl:ENSG00000120306 MIM:621347; AllianceGenome:HGNC:30239
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: C5orf32; ORF1-FL49
Summary: Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
Expression: Biased expression in stomach (RPKM 391.9), duodenum (RPKM 108.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (140175188..140243789)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (140700285..140769231)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (139554773..139623374)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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

RH41916 (e-PCR)
- UniSTS:53293

SGC33030 (e-PCR)
- UniSTS:77409

D5S1867 (e-PCR)
- UniSTS:11465

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cysteine-rich and transmembrane domain-containing protein 1

Names: UPF0467 protein C5orf32; putative nuclear protein ORF1-FL49

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.