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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
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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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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)

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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