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    FAM110C family with sequence similarity 110 member C [ Homo sapiens (human) ]

    Gene ID: 642273, updated on 3-Apr-2024

    Summary

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    Official Symbol
    FAM110Cprovided by HGNC
    Official Full Name
    family with sequence similarity 110 member Cprovided by HGNC
    Primary source
    HGNC:HGNC:33340
    See related
    Ensembl:ENSG00000184731 MIM:611395; AllianceGenome:HGNC:33340
    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
    Summary
    Enables alpha-tubulin binding activity. Involved in positive regulation of cell migration; positive regulation of protein kinase B signaling; and regulation of cell projection assembly. Located in cell cortex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in esophagus (RPKM 9.1), colon (RPKM 5.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p25.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (38814..46505, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32180..40449, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (38814..46505, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:67739-68240 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:150593-151572 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:151573-152550 Neighboring gene uncharacterized LOC105373324 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:162049-163248 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:197602-198801 Neighboring gene SH3 and SYLF domain containing 1 Neighboring gene MPRA-validated peak3578 silencer Neighboring gene MPRA-validated peak3579 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11098 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11099

    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. Characterization of the FAM110 gene family. Hauge H, et al. Genomics, 2007 Jul. PMID 17499476
    2. Evidence for the involvement of FAM110C protein in cell spreading and migration. Hauge H, et al. Cell Signal, 2009 Dec. PMID 19698782
    3. Whole genome association scan for genetic polymorphisms influencing information processing speed. Luciano M, et al. Biol Psychol, 2011 Mar. PMID 21130836, 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. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922

    See all (14) 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

    EBI GWAS Catalog

    Description
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell projection assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell projection assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM110C

    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_001077710.3 → NP_001071178.2  protein FAM110C

      See identical proteins and their annotated locations for NP_001071178.2

      Status: VALIDATED

      Source sequence(s)
      AC097643
      Consensus CDS
      CCDS42645.1
      UniProtKB/Swiss-Prot
      Q1W6H9
      UniProtKB/TrEMBL
      B4DYQ4
      Related
      ENSP00000328347.4, ENST00000327669.5
      Conserved Domains (2) summary
      pfam14160
      Location:194 → 303
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:14 → 49
      FAM110_N; Centrosome-associated N terminus

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      38814..46505 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510372.3 → XP_011508674.1  protein FAM110C isoform X3

      See identical proteins and their annotated locations for XP_011508674.1

      UniProtKB/TrEMBL
      B4DYQ4
      Conserved Domains (2) summary
      pfam14160
      Location:194 → 303
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:14 → 49
      FAM110_N; Centrosome-associated N terminus

    2. XM_017004690.2 → XP_016860179.1  protein FAM110C isoform X1

      UniProtKB/TrEMBL
      B4DYQ4

    3. XM_017004692.2 → XP_016860181.1  protein FAM110C isoform X2

      UniProtKB/TrEMBL
      B4DYQ4

    RNA

    1. XR_001738890.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      32180..40449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343348.1 → XP_054199323.1  protein FAM110C isoform X4

    2. XM_054343349.1 → XP_054199324.1  protein FAM110C isoform X4

    3. XM_054343347.1 → XP_054199322.1  protein FAM110C isoform X3

    4. XM_054343344.1 → XP_054199319.1  protein FAM110C isoform X1

    5. XM_054343345.1 → XP_054199320.1  protein FAM110C isoform X1

    6. XM_054343346.1 → XP_054199321.1  protein FAM110C isoform X2

    RNA

    1. XR_008486486.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1W6H9.2 GenPept UniProtKB/Swiss-Prot:Q1W6H9

    Gene LinkOut

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