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FAM43A family with sequence similarity 43 member A [ Homo sapiens (human) ]

Gene ID: 131583, updated on 17-Sep-2024

Summary

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Official Symbol
FAM43Aprovided by HGNC
Official Full Name
family with sequence similarity 43 member Aprovided by HGNC
Primary source
HGNC:HGNC:26888
See related
Ensembl:ENSG00000185112 AllianceGenome:HGNC:26888
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
Orthologs
mouse all
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Genomic context

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See FAM43A in Genome Data Viewer
Location:
3q29
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (194685883..194689037)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197382461..197385616)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194406612..194409766)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374291 Neighboring gene transmembrane protein 44 Neighboring gene Sharpr-MPRA regulatory region 9326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194339883-194340383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194343378-194343921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194356897-194357398 Neighboring gene TMEM44 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21031 Neighboring gene MPRA-validated peak4980 silencer Neighboring gene large 60S subunit nuclear export GTPase 1 Neighboring gene uncharacterized LOC124909474 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194395226-194396425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407453-194407958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194407959-194408462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21034 Neighboring gene uncharacterized LOC105374292 Neighboring gene long intergenic non-protein coding RNA 1968 Neighboring gene Sharpr-MPRA regulatory region 10974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21035 Neighboring gene Sharpr-MPRA regulatory region 1010 Neighboring gene MPRA-validated peak4981 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194470908-194471615 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194471765-194471953 Neighboring gene family with sequence similarity 151 member A pseudogene Neighboring gene long intergenic non-protein coding RNA 1972

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
  2. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
  3. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
  4. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (11) 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

  • FLJ90022

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 FAM43A

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_153690.5 → NP_710157.2  protein FAM43A

    See identical proteins and their annotated locations for NP_710157.2

    Status: VALIDATED

    Source sequence(s)
    AC046143, AF147314, BC039689, BG107959, BG110772, BI494721, BM561125, BQ009970
    Consensus CDS
    CCDS33923.1
    UniProtKB/Swiss-Prot
    A3KME2, Q8IXP4, Q8N2R8, Q8WZ07
    Related
    ENSP00000371397.1, ENST00000329759.6
    Conserved Domains (1) summary
    pfam14719
    Location:69 → 256
    PID_2; Phosphotyrosine interaction domain (PTB/PID)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    194685883..194689037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    197382461..197385616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N2R8.2 GenPept UniProtKB/Swiss-Prot:Q8N2R8

Gene LinkOut

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

Chemical Information
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