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

Gene ID: 283635, updated on 3-Nov-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
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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. 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
  2. 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,
  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 (21) 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)

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

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