C1orf35 chromosome 1 open reading frame 35 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1orf35provided by HGNC
Official Full Name: chromosome 1 open reading frame 35provided by HGNC
Primary source: HGNC:HGNC:19032
See related: Ensembl:ENSG00000143793
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: MMTAG2
Expression: Ubiquitous expression in ovary (RPKM 5.8), skin (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 1q42.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20200522	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (228100731..228103325, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (228288428..228293112, complement)

Chromosome 1 - NC_000001.11 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?

The study represents the first to use WES in multiplex families for preeclampsia and identifies two novel genes (QRFPR and C1orf35) not previously associated with preeclampsia and find nominal association of rs34270076 with protein levels.
Title: Whole-exome sequencing in multiplex preeclampsia families identifies novel candidate susceptibility genes.

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

SHGC-76467 (e-PCR)
- UniSTS:606

SHGC-76454 (e-PCR)
- UniSTS:70343

Homology

Homologs of the C1orf35 gene: The C1orf35 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 297 organisms have orthologs with human gene C1orf35
Orthologs

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
neutrophil degranulation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
extracellular region	TAS Traceable Author Statement more info
ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: multiple myeloma tumor-associated protein 2

Names: multiple myeloma transforming 2

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_024319.4 → NP_077295.1 multiple myeloma tumor-associated protein 2

See identical proteins and their annotated locations for NP_077295.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein.

Source sequence(s)

AK126087, BC002843

Consensus CDS

CCDS1566.1

UniProtKB/Swiss-Prot

Q9BU76

Related

ENSP00000272139.4, ENST00000272139.5

Conserved Domains (1) summary

pfam10159
Location:13 → 83

MMtag; Kinase phosphorylation protein

RNA

NR_130975.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK126087, BC002843