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

    Gene ID: 79169, updated on 10-Dec-2024

    Summary

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    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 AllianceGenome:HGNC:19032
    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
    Summary
    Enables RNA binding activity. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 5.8), skin (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf35 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228100731..228103325, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227289717..227292311, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228288432..228291026, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228262596-228263096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228263097-228263597 Neighboring gene long intergenic non-protein coding RNA 2809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1908 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1909 Neighboring gene ARF GTPase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228283911-228284880 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2689 Neighboring gene microRNA 3620 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228289072-228289792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228289793-228290512 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228290513-228291233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228291234-228291953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:228295219-228295933 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:228295934-228296647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1913 Neighboring gene mitochondrial ribosomal protein L55 Neighboring gene CIAO2A pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Cloning and sequence analysis of tumor-associated gene hMMTAG2 from human multiple myeloma cell line ARH-77. Tian JY, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2003 Feb. PMID 12545221
    2. C1orf35 contributes to tumorigenesis by activating c-MYC transcription in multiple myeloma. Luo SQ, et al. Oncogene, 2020 Apr. PMID 32103167
    3. Whole-exome sequencing in multiplex preeclampsia families identifies novel candidate susceptibility genes. Melton PE, et al. J Hypertens, 2019 May. PMID 30633125
    4. DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex. Kellner M, et al. Exp Cell Res, 2015 May 15. PMID 25825154
    5. PIP30/FAM192A is a novel regulator of the nuclear proteasome activator PA28γ. Jonik-Nowak B, et al. Proc Natl Acad Sci U S A, 2018 Jul 10. PMID 29934401, Free PMC Article

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Homology

    Clone Names

    • MGC4174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in 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)

    1. 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
      Q6P5Y0, Q6ZTZ6, Q6ZWA6, Q8IZH3, Q9BU76
      Related
      ENSP00000272139.4, ENST00000272139.5
      Conserved Domains (1) summary
      pfam10159
      Location:13 → 83
      MMtag; Kinase phosphorylation protein

    RNA

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      228100731..228103325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      227289717..227292311 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BU76.1 GenPept UniProtKB/Swiss-Prot:Q9BU76

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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