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

Gene ID: 203259, updated on 17-Jun-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (34398184..34458570, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (34416674..34477091, complement)
105.20220307 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
  • 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 (22) 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)

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

  • FLJ39031

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_2023_10

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

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