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    C1orf122 chromosome 1 open reading frame 122 [ Homo sapiens (human) ]

    Gene ID: 127687, updated on 5-Mar-2024

    Summary

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    Official Symbol
    C1orf122provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 122provided by HGNC
    Primary source
    HGNC:HGNC:24789
    See related
    Ensembl:ENSG00000197982 AllianceGenome:HGNC:24789
    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
    ALAESM
    Expression
    Ubiquitous expression in brain (RPKM 12.1), kidney (RPKM 11.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    Location:
    1p34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37807790..37809454)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37674678..37676342)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38273462..38275126)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene valosin containing protein lysine methyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 679 Neighboring gene mannosidase endo-alpha like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 681 Neighboring gene yrdC N6-threonylcarbamoyltransferase domain containing Neighboring gene metal regulatory transcription factor 1 Neighboring gene ribosomal protein S2 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:38330961-38332160 Neighboring gene inositol polyphosphate-5-phosphatase B Neighboring gene RNA, U6 small nuclear 584, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism. Shen C, et al. J Mol Neurosci, 2015 May. PMID 25464930
    2. Association of genetic variants with chronic kidney disease in individuals with different lipid profiles. Yoshida T, et al. Int J Mol Med, 2009 Aug. PMID 19578796
    3. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article
    4. Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors. Feng X, et al. Sci Adv, 2022 May 13. PMID 35559673, Free PMC Article
    5. Interactome Rewiring Following Pharmacological Targeting of BET Bromodomains. Lambert JP, et al. Mol Cell, 2019 Feb 7. PMID 30554943, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23476, FLJ45459

    General protein information

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    Preferred Names
    uncharacterized protein C1orf122

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001142726.2 → NP_001136198.1  uncharacterized protein C1orf122 isoform 2

      See identical proteins and their annotated locations for NP_001136198.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AL929472, AY517499, CV575592, CX788342
      Consensus CDS
      CCDS44112.1
      UniProtKB/Swiss-Prot
      Q6ZSJ8
      Related
      ENSP00000434520.1, ENST00000468084.1
      Conserved Domains (1) summary
      pfam15855
      Location:1 → 47
      DUF4726; Domain of unknown function (DUF4726)

    2. NM_198446.3 → NP_940848.2  uncharacterized protein C1orf122 isoform 1

      See identical proteins and their annotated locations for NP_940848.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL929472, AY517499, CX788342
      Consensus CDS
      CCDS427.2
      UniProtKB/Swiss-Prot
      A2RQF4, E9PQ13, Q56A71, Q6ZSJ8
      Related
      ENSP00000362133.4, ENST00000373042.5
      Conserved Domains (1) summary
      pfam15855
      Location:10 → 110
      DUF4726; Domain of unknown function (DUF4726)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      37807790..37809454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37674678..37676342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSJ8.2 GenPept UniProtKB/Swiss-Prot:Q6ZSJ8

    Gene LinkOut

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

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