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    FAM177A1 family with sequence similarity 177 member A1 [ Homo sapiens (human) ]

    Gene ID: 283635, updated on 29-Oct-2024

    Summary

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    Official Symbol
    FAM177A1provided by HGNC
    Official Full Name
    family with sequence similarity 177 member A1provided by HGNC
    Primary source
    HGNC:HGNC:19829
    See related
    Ensembl:ENSG00000151327 MIM:619181; AllianceGenome:HGNC:19829
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C14orf24
    Summary
    This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in prostate (RPKM 15.8), colon (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM177A1 in Genome Data Viewer
    Location:
    14q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (35044907..35083383)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (29241864..29280312)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (35514113..35552589)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SRP54 antisense RNA 1 Neighboring gene IGBP1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8256 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:35451517-35452218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8259 Neighboring gene signal recognition particle 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8262 Neighboring gene uncharacterized LOC101927178 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:35571935-35572102 Neighboring gene protein phosphatase 2 regulatory subunit B''gamma Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:35581755-35582536 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:35590400-35591599 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:35591739-35592658 Neighboring gene PRORP-PSMA6 readthrough Neighboring gene protein only RNase P catalytic subunit Neighboring gene ribosomal protein L23a pseudogene 70

    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. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder. Kohler JN, et al. Genet Med, 2024 Sep. PMID 38767059,
    2. Noninvasive imaging of microRNA124a-mediated repression of the chromosome 14 ORF 24 gene during neurogenesis. Ko HY, et al. FEBS J, 2009 Sep. PMID 19663910
    3. Identification of a novel candidate locus for juvenile idiopathic arthritis at 14q13.2 in the Latvian population by association analysis with microsatellite markers. Sjakste T, et al. DNA Cell Biol, 2010 Sep. PMID 20136554
    4. Co-stimulatory CD28 and transcription factor NFKB1 gene variants affect idiopathic recurrent miscarriages. Misra MK, et al. J Hum Genet, 2016 Dec. PMID 27488439
    5. FAM177A1 Inhibits IL-1β-Induced Signaling by Impairing TRAF6-Ubc13 Association. Liao BW, et al. J Immunol, 2021 Dec 15. PMID 34799425

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
      Title: Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
    2. FAM177A1 Inhibits IL-1beta-Induced Signaling by Impairing TRAF6-Ubc13 Association.
      Title: FAM177A1 Inhibits IL-1β-Induced Signaling by Impairing TRAF6-Ubc13 Association.
    3. Remarkable repression of c14orf24 by miR124a was detected during neurogenesis.
      Title: Noninvasive imaging of microRNA124a-mediated repression of the chromosome 14 ORF 24 gene during neurogenesis.
    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)

    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

    • FLJ38854, DKFZp686J1254

    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 FAM177A1

    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_054633.1 RefSeqGene

      Range
      6366..43472
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001079519.1 → NP_001072987.1  protein FAM177A1 isoform 2

      See identical proteins and their annotated locations for NP_001072987.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AI148967, AL049776, AL833508, BX640884
      Consensus CDS
      CCDS41944.1
      UniProtKB/Swiss-Prot
      Q68CT2, Q8N128
      Related
      ENSP00000451508.2, ENST00000555211.6
      Conserved Domains (1) summary
      pfam14774
      Location:41 → 144
      FAM177; FAM177 family

    2. NM_001289022.3 → NP_001275951.1  protein FAM177A1 isoform 2

      See identical proteins and their annotated locations for NP_001275951.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AL049776, BG700755, BX640884, CD678775
      Consensus CDS
      CCDS41944.1
      UniProtKB/Swiss-Prot
      Q68CT2, Q8N128
      Related
      ENSP00000371843.3, ENST00000382406.7
      Conserved Domains (1) summary
      pfam14774
      Location:41 → 144
      FAM177; FAM177 family

    3. NM_173607.5 → NP_775878.2  protein FAM177A1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_775878.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
      Source sequence(s)
      AL049776, BX640884
      Consensus CDS
      CCDS9653.2
      UniProtKB/Swiss-Prot
      Q8N128
      Related
      ENSP00000280987.4, ENST00000280987.9
      Conserved Domains (1) summary
      pfam14774
      Location:64 → 167
      FAM177; FAM177 family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      35044907..35083383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      29241864..29280312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N128.1 GenPept UniProtKB/Swiss-Prot:Q8N128

    Gene LinkOut

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

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