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    FAM149A family with sequence similarity 149 member A [ Homo sapiens (human) ]

    Gene ID: 25854, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FAM149Aprovided by HGNC
    Official Full Name
    family with sequence similarity 149 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:24527
    See related
    Ensembl:ENSG00000109794 AllianceGenome:HGNC:24527
    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
    MST119; MSTP119
    Expression
    Broad expression in kidney (RPKM 4.2), liver (RPKM 2.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM149A in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186104704..186175337)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189445101..189515714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187025858..187096491)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:186948264-186949463 Neighboring gene RNA, U4 small nuclear 64, pseudogene Neighboring gene toll like receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15857 Neighboring gene uncharacterized LOC124900171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187064906-187065406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187065407-187065907 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187069874-187071073 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:187071092-187071287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:187079637-187080136 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 Neighboring gene ribosomal protein SA pseudogene 70 Neighboring gene LTO1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22267 Neighboring gene uncharacterized LOC651430 Neighboring gene cytochrome P450 family 4 subfamily V member 2 Neighboring gene kallikrein B1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m. MacInnis MJ, et al. High Alt Med Biol, 2015 Dec. PMID 26600424
    2. Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress. Zhang J, et al. Free Radic Biol Med, 2021 Sep. PMID 34303830
    3. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. Yeung ML, et al. J Biol Chem, 2009 Jul 17. PMID 19460752, Free PMC Article
    4. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress.
      Title: Whole exome sequencing identified FAM149A as a plausible causative gene for congenital hereditary endothelial dystrophy, affecting Nrf2-Antioxidant signaling upon oxidative stress.
    2. In total, 270,389 single nucleotide polymorphisms passed quality control, and 4 SNPs in the FAM149A gene were associated with Acute Mountain Sickness; however, in the validation cohorts, FAM149A was not associated with the presence or severity of AMS.
      Title: A Preliminary Genome-Wide Association Study of Acute Mountain Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending to 4380 m.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of family with sequence similarity 149, member A (FAM149A) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564J102

    General protein information

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    Preferred Names
    protein FAM149A

    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_001006655.3 → NP_001006656.1  protein FAM149A isoform 1

      See identical proteins and their annotated locations for NP_001006656.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC110771, AF173894, BC142992, BU609191, CD516421
      Consensus CDS
      CCDS34117.1
      UniProtKB/TrEMBL
      B9EGU9
      Related
      ENSP00000424380.1, ENST00000514153.5
      Conserved Domains (1) summary
      pfam12516
      Location:2 → 66
      DUF3719; Protein of unknown function (DUF3719)

    2. NM_001350178.1 → NP_001337107.1  protein FAM149A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Variants 3 and 4 both encode the same isoform (2).
      Source sequence(s)
      AK309233, BC142992, BC144411, BU609191, CD516421
      UniProtKB/TrEMBL
      B7ZMB5
      Conserved Domains (1) summary
      pfam12516
      Location:2 → 66
      DUF3719; Protein of unknown function (DUF3719)

    3. NM_001350179.1 → NP_001337108.1  protein FAM149A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter by an amino acid, compared to isoform 1. Variants 3 and 4 both encode the same isoform (2).
      Source sequence(s)
      AK309233, BC142992, BC144411, BU609191, CD516421, DA159632
      UniProtKB/TrEMBL
      B7ZMB5
      Conserved Domains (1) summary
      pfam12516
      Location:2 → 66
      DUF3719; Protein of unknown function (DUF3719)

    4. NM_001367768.3 → NP_001354697.1  protein FAM149A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, uses multiple alternate splice sites, and extends the 5' coding region compared to variant 1. It encodes isoform 3 which is longer than isoform 1.
      Source sequence(s)
      AC104070, AC110771
      Consensus CDS
      CCDS93680.1
      UniProtKB/Swiss-Prot
      A5PLN7, B5MDB8, Q2TAN6, Q7Z2S5, Q9Y4T9
      UniProtKB/TrEMBL
      A0A0A0MRZ3
      Related
      ENSP00000374005.7, ENST00000389354.7

    5. NM_001395294.1 → NP_001382223.1  protein FAM149A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC104070, AC110771
      UniProtKB/Swiss-Prot
      A5PLN7, B5MDB8, Q2TAN6, Q7Z2S5, Q9Y4T9
      Related
      ENSP00000516649.1, ENST00000706927.1
      Conserved Domains (1) summary
      PHA03247
      Location:18 → 144
      PHA03247; large tegument protein UL36; Provisional

    6. NM_015398.4 → NP_056213.1  protein FAM149A isoform 1

      See identical proteins and their annotated locations for NP_056213.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer isoform (1). Variants 1 and 2 both encode the same isoform (1).
      Source sequence(s)
      AC110771, AF173894, BC110816, BU609191
      Consensus CDS
      CCDS34117.1
      UniProtKB/TrEMBL
      B9EGU9
      Related
      ENSP00000227065.4, ENST00000227065.8
      Conserved Domains (1) summary
      pfam12516
      Location:2 → 66
      DUF3719; Protein of unknown function (DUF3719)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      186104704..186175337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      189445101..189515714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A5PLN7.2 GenPept UniProtKB/Swiss-Prot:A5PLN7

    Gene LinkOut

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

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