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    FAM227A family with sequence similarity 227 member A [ Homo sapiens (human) ]

    Gene ID: 646851, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM227Aprovided by HGNC
    Official Full Name
    family with sequence similarity 227 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:44197
    See related
    Ensembl:ENSG00000184949 AllianceGenome:HGNC:44197
    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
    Expression
    Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM227A in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38578118..38656392, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39042376..39126576, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38974123..39052397, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373031 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:38966777-38967287 Neighboring gene ribosomal protein S29 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19014 Neighboring gene MPRA-validated peak4492 silencer Neighboring gene MPRA-validated peak4493 silencer Neighboring gene chibby 1, beta catenin antagonist Neighboring gene TOMM22 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949

    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. A quantitative atlas of mitotic phosphorylation. Dephoure N, et al. Proc Natl Acad Sci U S A, 2008 Aug 5. PMID 18669648, Free PMC Article
    2. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208
    3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (6) 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

    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

    • FLJ37761

    General protein information

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    Preferred Names
    protein FAM227A
    Names
    Protein FAM227A

    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_001013647.2 → NP_001013669.1  protein FAM227A isoform 1

      See identical proteins and their annotated locations for NP_001013669.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK301819, AL022320, DA378202, DB053353, DV080205
      Consensus CDS
      CCDS93164.1
      UniProtKB/Swiss-Prot
      B0QY52, B7Z7C6, F5H4B4, Q5TG08
      UniProtKB/TrEMBL
      A0A2R8YCE3
      Related
      ENSP00000445093.1, ENST00000535113.7
      Conserved Domains (1) summary
      pfam14922
      Location:146 → 296
      FWWh; Protein of unknown function

    2. NM_001291030.2 → NP_001277959.1  protein FAM227A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK301819, AL022320, DA378202, DV080205
      UniProtKB/Swiss-Prot
      F5H4B4
      Conserved Domains (1) summary
      pfam14922
      Location:42 → 203
      FWWh; Protein of unknown function

    3. NM_001384270.1 → NP_001371199.1  protein FAM227A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL021707, AL022320, AL035495
      UniProtKB/TrEMBL
      A0A2R8YCE3
      Conserved Domains (1) summary
      pfam14922
      Location:53 → 203
      FWWh; Protein of unknown function

    4. NM_001384271.1 → NP_001371200.1  protein FAM227A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL021707, AL022320, AL035495
      Conserved Domains (1) summary
      pfam14922
      Location:1 → 104
      FWWh; Protein of unknown function

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38578118..38656392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441459.1 → XP_047297415.1  protein FAM227A isoform X9

    2. XM_011530311.2 → XP_011528613.1  protein FAM227A isoform X6

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:94 → 255
      FWWh; Protein of unknown function

    3. XM_047441456.1 → XP_047297412.1  protein FAM227A isoform X5

    4. XM_011530310.2 → XP_011528612.1  protein FAM227A isoform X4

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:135 → 261
      FWWh; Protein of unknown function

    5. XM_006724292.3 → XP_006724355.2  protein FAM227A isoform X2

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:135 → 296
      FWWh; Protein of unknown function

    6. XM_011530309.3 → XP_011528611.1  protein FAM227A isoform X3

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Related
      ENSP00000348086.7, ENST00000355830.11
      Conserved Domains (1) summary
      pfam14922
      Location:135 → 296
      FWWh; Protein of unknown function

    7. XM_006724291.3 → XP_006724354.2  protein FAM227A isoform X1

      See identical proteins and their annotated locations for XP_006724354.2

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:135 → 296
      FWWh; Protein of unknown function

    8. XM_011530308.4 → XP_011528610.1  protein FAM227A isoform X1

      See identical proteins and their annotated locations for XP_011528610.1

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:135 → 296
      FWWh; Protein of unknown function

    9. XM_011530313.3 → XP_011528615.1  protein FAM227A isoform X7

      See identical proteins and their annotated locations for XP_011528615.1

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:42 → 203
      FWWh; Protein of unknown function

    10. XM_011530312.3 → XP_011528614.1  protein FAM227A isoform X7

      See identical proteins and their annotated locations for XP_011528614.1

      UniProtKB/TrEMBL
      A0A0A0MRD0
      Conserved Domains (1) summary
      pfam14922
      Location:42 → 203
      FWWh; Protein of unknown function

    11. XM_047441458.1 → XP_047297414.1  protein FAM227A isoform X8

    12. XM_047441457.1 → XP_047297413.1  protein FAM227A isoform X7

    RNA

    1. XR_937892.2 RNA Sequence

      Related
      ENST00000544346.5

    2. XR_937893.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39042376..39126576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325831.1 → XP_054181806.1  protein FAM227A isoform X9

    2. XM_054325826.1 → XP_054181801.1  protein FAM227A isoform X6

    3. XM_054325825.1 → XP_054181800.1  protein FAM227A isoform X5

    4. XM_054325824.1 → XP_054181799.1  protein FAM227A isoform X4

    5. XM_054325822.1 → XP_054181797.1  protein FAM227A isoform X2

    6. XM_054325823.1 → XP_054181798.1  protein FAM227A isoform X3

    7. XM_054325820.1 → XP_054181795.1  protein FAM227A isoform X1

    8. XM_054325821.1 → XP_054181796.1  protein FAM227A isoform X1

    9. XM_054325829.1 → XP_054181804.1  protein FAM227A isoform X7

    10. XM_054325827.1 → XP_054181802.1  protein FAM227A isoform X7

    11. XM_054325830.1 → XP_054181805.1  protein FAM227A isoform X8

    12. XM_054325828.1 → XP_054181803.1  protein FAM227A isoform X7

    RNA

    1. XR_008485408.1 RNA Sequence

    2. XR_008485409.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F5H4B4.1 GenPept UniProtKB/Swiss-Prot:F5H4B4

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