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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
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Genomic context

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See C1orf122 in Genome Data Viewer
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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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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