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    FAM219A family with sequence similarity 219 member A [ Homo sapiens (human) ]

    Gene ID: 203259, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FAM219Aprovided by HGNC
    Official Full Name
    family with sequence similarity 219 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:19920
    See related
    Ensembl:ENSG00000164970 AllianceGenome:HGNC:19920
    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
    C9orf25
    Summary
    The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in brain (RPKM 9.8), fat (RPKM 2.5) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM219A in Genome Data Viewer
    Location:
    9p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34398184..34458570, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34416674..34477091, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34398182..34458568, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34371826-34372326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34372327-34372827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34375663-34376244 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34376245-34376825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene myogenesis regulating glycosidase Neighboring gene sperm microtubule inner protein 6 Neighboring gene uncharacterized LOC124902145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34456734-34457234 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr9:34458366-34458906 Neighboring gene dynein axonemal intermediate chain 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34482439-34482941 Neighboring gene RN7SK pseudogene 24 Neighboring gene Sharpr-MPRA regulatory regions 5304 and 15183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34512715-34513467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34521732-34522284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19847 Neighboring gene energy homeostasis associated

    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. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. Coyaud E, et al. Mol Cell Proteomics, 2015 Jul. PMID 25900982, Free PMC Article
    2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    3. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article
    4. A "double adaptor" method for improved shotgun library construction. Andersson B, et al. Anal Biochem, 1996 Apr 5. PMID 8619474
    5. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article

    See all (23) 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

    • FLJ39031

    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 FAM219A
    Names
    uncharacterized protein C9orf25

    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.

    Genomic

    1. NG_027971.1 RefSeqGene

      Range
      5001..65387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184940.2 → NP_001171869.1  protein FAM219A isoform 1

      See identical proteins and their annotated locations for NP_001171869.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AK096350, AK299882, AL356494, BC025348
      Consensus CDS
      CCDS55304.1
      UniProtKB/Swiss-Prot
      A2A364, B4DFE1, B4DSR8, Q5T590, Q5T591, Q5T592, Q5T594, Q5T595, Q8IW50, Q8TAZ8
      UniProtKB/TrEMBL
      A0A0A0MRW3
      Related
      ENSP00000499069.1, ENST00000651358.1
      Conserved Domains (1) summary
      pfam15260
      Location:54 → 182
      FAM219A; Protein family FAM219A

    2. NM_001184941.2 → NP_001171870.1  protein FAM219A isoform 2

      See identical proteins and their annotated locations for NP_001171870.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different splice site in the coding region, compared to variant 1. The resulting protein (isoform 2) lacks an internal aa when it is compared to isoform 1.
      Source sequence(s)
      AK096350, AK299882, AL356494, BC025348
      UniProtKB/TrEMBL
      A0A0A0MRW3
      Related
      ENSP00000368382.1, ENST00000379089.5
      Conserved Domains (1) summary
      pfam15260
      Location:54 → 181
      FAM219A; Protein family FAM219A

    3. NM_001184942.2 → NP_001171871.1  protein FAM219A isoform 3

      See identical proteins and their annotated locations for NP_001171871.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK294054, AL356494, BC025348
      UniProtKB/TrEMBL
      A0A0A0MRW0
      Related
      ENSP00000368371.1, ENST00000379080.5
      Conserved Domains (1) summary
      pfam15260
      Location:43 → 170
      FAM219A; Protein family FAM219A

    4. NM_001184943.2 → NP_001171872.1  protein FAM219A isoform 5

      See identical proteins and their annotated locations for NP_001171872.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses two different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 5) lacks a segment in the N-terminal region and an internal aa when it is compared to isoform 1.
      Source sequence(s)
      AK096350, AL356494, BC025348, DA110626
      UniProtKB/TrEMBL
      A0A0A0MRW2
      Related
      ENSP00000368380.1, ENST00000379087.5
      Conserved Domains (1) summary
      pfam15260
      Location:37 → 164
      FAM219A; Protein family FAM219A

    5. NM_001184945.2 → NP_001171874.1  protein FAM219A isoform 7

      See identical proteins and their annotated locations for NP_001171874.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) uses three different splice sites in the coding region, compared to variant 1. The resulting protein (isoform 7) lacks two segments and an internal aa when it is compared to isoform 1.
      Source sequence(s)
      AK294054, AL356494, BC025348, BC041009
      UniProtKB/TrEMBL
      A0A0A0MRW1
      Related
      ENSP00000368372.1, ENST00000379081.5
      Conserved Domains (1) summary
      pfam15260
      Location:26 → 153
      FAM219A; Protein family FAM219A

    6. NM_147202.2 → NP_671735.1  protein FAM219A isoform 4

      See identical proteins and their annotated locations for NP_671735.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses a different splice site in the coding region, compared to variant 1. The resulting protein (isoform 4) lacks an internal segment when it is compared to isoform 1.
      Source sequence(s)
      AK096350, AL356494, BC025348
      Consensus CDS
      CCDS6556.1
      UniProtKB/TrEMBL
      A0A0A0MRW2
      Related
      ENSP00000297620.4, ENST00000297620.8
      Conserved Domains (1) summary
      pfam15260
      Location:37 → 165
      FAM219A; Protein family FAM219A

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      34398184..34458570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34416674..34477091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001184944.1: Suppressed sequence

      Description
      NM_001184944.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW50.3 GenPept UniProtKB/Swiss-Prot:Q8IW50

    Gene LinkOut

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

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