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FAM90A1 family with sequence similarity 90 member A1 [ Homo sapiens (human) ]

Gene ID: 55138, updated on 7-Apr-2024

Summary

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Official Symbol
FAM90A1provided by HGNC
Official Full Name
family with sequence similarity 90 member A1provided by HGNC
Primary source
HGNC:HGNC:25526
See related
Ensembl:ENSG00000171847 MIM:613041; AllianceGenome:HGNC:25526
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
FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
12p13.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8221260..8227618, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8235339..8241697, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8373856..8380214, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 705A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8333169-8333668 Neighboring gene family with sequence similarity 66 member C Neighboring gene defensin beta 109F (pseudogene) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:8375857-8377056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5931 Neighboring gene ALG1 like 10, pseudogene Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8390159-8390659 Neighboring gene long intergenic non-protein coding RNA 2449

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. Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma. Cheng S, et al. Aging (Albany NY), 2020 Feb 3. PMID 32015217, Free PMC Article
  2. Identification and functional characterization of transcriptional activators in human cells. Alerasool N, et al. Mol Cell, 2022 Feb 3. PMID 35016035
  3. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Bosch N, et al. Hum Mol Genet, 2007 Nov 1. PMID 17684299
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
  5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma.
    Title: Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma.
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

  • FLJ10408

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
protein FAM90A1

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_001319982.2 → NP_001306911.1  protein FAM90A1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC092111, AK001270, DA088850
    Consensus CDS
    CCDS31738.1
    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Related
    ENSP00000307798.6, ENST00000307435.10
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

  2. NM_018088.3 → NP_060558.3  protein FAM90A1

    See identical proteins and their annotated locations for NP_060558.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC092111, BC042608, DA088850
    Consensus CDS
    CCDS31738.1
    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Related
    ENSP00000445418.1, ENST00000538603.6
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8221260..8227618 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449030.2 → XP_024304798.1  protein FAM90A1 isoform X1

    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

  2. XM_047429059.1 → XP_047285015.1  protein FAM90A1 isoform X1

    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6

  3. XM_017019547.2 → XP_016875036.1  protein FAM90A1 isoform X1

    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

  4. XM_011520719.2 → XP_011519021.1  protein FAM90A1 isoform X1

    See identical proteins and their annotated locations for XP_011519021.1

    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

  5. XM_024449029.2 → XP_024304797.1  protein FAM90A1 isoform X1

    UniProtKB/Swiss-Prot
    D3DUU9, Q86YD7, Q9NVZ6
    Conserved Domains (2) summary
    pfam15288
    Location:41 → 76
    zf-CCHC_6; Zinc knuckle
    cl26464
    Location:25 → 371
    Atrophin-1; Atrophin-1 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8235339..8241697 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372389.1 → XP_054228364.1  protein FAM90A1 isoform X1

  2. XM_054372388.1 → XP_054228363.1  protein FAM90A1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86YD7.3 GenPept UniProtKB/Swiss-Prot:Q86YD7

Gene LinkOut

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