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    FAM110A family with sequence similarity 110 member A [ Homo sapiens (human) ]

    Gene ID: 83541, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM110Aprovided by HGNC
    Official Full Name
    family with sequence similarity 110 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:16188
    See related
    Ensembl:ENSG00000125898 MIM:611393; AllianceGenome:HGNC:16188
    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
    F10; C20orf55; bA371L19.3
    Summary
    Involved in mitotic spindle organization. Located in cytosol; microtubule cytoskeleton; and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in skin (RPKM 6.2), spleen (RPKM 5.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM110A in Genome Data Viewer
    Location:
    20p13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (833715..846277)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (880828..893378)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (814358..826920)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:642152-642765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:642766-643378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:653674-654187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12583 Neighboring gene Sharpr-MPRA regulatory region 5118 Neighboring gene scratch family transcriptional repressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:669184-669764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:669765-670343 Neighboring gene MPRA-validated peak4111 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:700539-701043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:714587-715087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:749319-749818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:756400-757102 Neighboring gene solute carrier family 52 member 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:771562-772313 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:798226-798402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:803889-804420 Neighboring gene CRISPRi-validated cis-regulatory element chr20.80 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17445 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12585 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:822609-823591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:825145-825958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:836793-837779 Neighboring gene ribosomal protein S10 pseudogene 5 Neighboring gene uncharacterized LOC124904854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:853162-853662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:853663-854163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17448 Neighboring gene MPRA-validated peak4114 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:865931-866430 Neighboring gene angiopoietin 4 Neighboring gene uncharacterized LOC105372492

    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 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. Pan-cancer analysis reveals potential of FAM110A as a prognostic and immunological biomarker in human cancer. Zhong H, et al. Front Immunol, 2023. PMID 36923407, Free PMC Article
    2. FAM110A promotes mitotic spindle formation by linking microtubules with actin cytoskeleton. Aquino-Perez C, et al. Proc Natl Acad Sci U S A, 2024 Jul 16. PMID 38995965, Free PMC Article
    3. CK1-mediated phosphorylation of FAM110A promotes its interaction with mitotic spindle and controls chromosomal alignment. Aquino Perez C, et al. EMBO Rep, 2021 Jul 5. PMID 34080749, Free PMC Article
    4. Characterization of the FAM110 gene family. Hauge H, et al. Genomics, 2007 Jul. PMID 17499476
    5. Network-based prediction of protein interactions. Kovács IA, et al. Nat Commun, 2019 Mar 18. PMID 30886144, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM110A promotes mitotic spindle formation by linking microtubules with actin cytoskeleton.
      Title: FAM110A promotes mitotic spindle formation by linking microtubules with actin cytoskeleton.
    2. Pan-cancer analysis reveals potential of FAM110A as a prognostic and immunological biomarker in human cancer.
      Title: Pan-cancer analysis reveals potential of FAM110A as a prognostic and immunological biomarker in human cancer.
    3. Protein with cell cycle-regulated expression and distinct conserved motifs, which localizes to centrosomes and spindle poles.
      Title: Characterization of the FAM110 gene family.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Clone Names

    • MGC2450, MGC4675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM110A

    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_001042353.3 → NP_001035812.1  protein FAM110A

      See identical proteins and their annotated locations for NP_001035812.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the same protein.
      Source sequence(s)
      AL118502, BC004222, BI911808, DA915382
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Related
      ENSP00000371367.3, ENST00000381941.8
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    2. NM_001289145.2 → NP_001276074.1  protein FAM110A

      See identical proteins and their annotated locations for NP_001276074.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the same protein.
      Source sequence(s)
      AL118502, BC004222, BI909768, HY035293
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Related
      ENSP00000354163.2, ENST00000304189.6
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    3. NM_001289146.2 → NP_001276075.1  protein FAM110A

      See identical proteins and their annotated locations for NP_001276075.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the same protein.
      Source sequence(s)
      AL118502, BI909945, HY035293
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Related
      ENSP00000371365.1, ENST00000381939.1
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    4. NM_001289147.2 → NP_001276076.1  protein FAM110A

      See identical proteins and their annotated locations for NP_001276076.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the same protein.
      Source sequence(s)
      AL118502, BC004222, CN425669, CX753944
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Related
      ENSP00000445228.1, ENST00000541082.2
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    5. NM_031424.6 → NP_113612.1  protein FAM110A

      See identical proteins and their annotated locations for NP_113612.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the same protein as variants 2, 3, 4, 5, and 6.
      Source sequence(s)
      AL118502, AL530841, BC004222
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    6. NM_207121.5 → NP_997004.1  protein FAM110A

      See identical proteins and their annotated locations for NP_997004.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, and 6 encode the same protein.
      Source sequence(s)
      AL118502, BC004222
      Consensus CDS
      CCDS13008.1
      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Related
      ENSP00000246100.3, ENST00000246100.3
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      833715..846277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440531.1 → XP_047296487.1  protein FAM110A isoform X1

      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89

    2. XM_011529381.3 → XP_011527683.1  protein FAM110A isoform X1

      See identical proteins and their annotated locations for XP_011527683.1

      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
      UniProtKB/TrEMBL
      B2RAF2
      Conserved Domains (2) summary
      pfam14160
      Location:182 → 287
      FAM110_C; Centrosome-associated C terminus
      pfam14161
      Location:5 → 104
      FAM110_N; Centrosome-associated N terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      880828..893378
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324097.1 → XP_054180072.1  protein FAM110A isoform X1

      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89

    2. XM_054324098.1 → XP_054180073.1  protein FAM110A isoform X1

      UniProtKB/Swiss-Prot
      D3DVW2, Q5R1M7, Q9BQ89
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ89.1 GenPept UniProtKB/Swiss-Prot:Q9BQ89

    Gene LinkOut

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

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