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    FAM181A family with sequence similarity 181 member A [ Homo sapiens (human) ]

    Gene ID: 90050, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM181Aprovided by HGNC
    Official Full Name
    family with sequence similarity 181 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:20491
    See related
    Ensembl:ENSG00000140067 AllianceGenome:HGNC:20491
    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
    C14orf152
    Summary
    Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 8.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM181A in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93918894..93929608)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88146203..88156917)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94385240..94395954)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene proline rich membrane anchor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94215113-94215986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94226183-94226683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94245793-94246294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254197-94254908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254909-94255622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94255623-94256334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94290479-94291180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94291181-94291881 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94306216-94306754 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94346035-94346536 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94346537-94347036 Neighboring gene uncharacterized LOC105370631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94357084-94358061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94359097-94359871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94359872-94360645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94362555-94363054 Neighboring gene FAM181A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94407532-94408032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94408033-94408533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94420244-94421221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94421332-94422038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94422039-94422743 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:94425411-94426610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94428828-94429328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94429329-94429829 Neighboring gene ankyrin repeat and SOCS box containing 2 Neighboring gene microRNA 4506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94441397-94441968 Neighboring gene uncharacterized LOC107984663 Neighboring gene coiled-coil domain containing 197

    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. Validating Missing Proteins in Human Sperm Cells by Targeted Mass-Spectrometry- and Antibody-based Methods. Carapito C, et al. J Proteome Res, 2017 Dec 1. PMID 28891297
    2. Analysis of the Fam181 gene family during mouse development reveals distinct strain-specific expression patterns, suggesting a role in nervous system development and function. Marks M, et al. Gene, 2016 Jan 10. PMID 26407640
    3. Skp2-Mediated Stabilization of MTH1 Promotes Survival of Melanoma Cells upon Oxidative Stress. Wang JY, et al. Cancer Res, 2017 Nov 15. PMID 28947420
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (9) 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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FAM181A

    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_001207071.2 → NP_001194000.1  protein FAM181A isoform 2

      See identical proteins and their annotated locations for NP_001194000.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC009073, DB058808
      Consensus CDS
      CCDS55939.1
      UniProtKB/Swiss-Prot
      Q8N9Y4
      Related
      ENSP00000451802.1, ENST00000557719.1
      Conserved Domains (1) summary
      pfam15238
      Location:3 → 280
      FAM181; FAM181

    2. NM_001207072.2 → NP_001194001.1  protein FAM181A isoform 2

      See identical proteins and their annotated locations for NP_001194001.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons from the 5' end but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4 and 5 encode the same isoform 2.
      Source sequence(s)
      AL132642, BC009073
      Consensus CDS
      CCDS55939.1
      UniProtKB/Swiss-Prot
      Q8N9Y4
      Related
      ENSP00000451445.2, ENST00000557000.2
      Conserved Domains (1) summary
      pfam15238
      Location:3 → 280
      FAM181; FAM181

    3. NM_001207073.2 → NP_001194002.1  protein FAM181A isoform 2

      See identical proteins and their annotated locations for NP_001194002.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two exons from the 5' end but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4 and 5 encode the same isoform 2.
      Source sequence(s)
      AK315393, BC009073
      Consensus CDS
      CCDS55939.1
      UniProtKB/Swiss-Prot
      Q8N9Y4
      Related
      ENSP00000451678.1, ENST00000556222.2
      Conserved Domains (1) summary
      pfam15238
      Location:3 → 280
      FAM181; FAM181

    4. NM_001207074.2 → NP_001194003.1  protein FAM181A isoform 2

      See identical proteins and their annotated locations for NP_001194003.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two exons from the 5' end but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, 4 and 5 encode the same isoform 2.
      Source sequence(s)
      BC009073, CX870424
      Consensus CDS
      CCDS55939.1
      UniProtKB/Swiss-Prot
      Q8N9Y4
      Conserved Domains (1) summary
      pfam15238
      Location:3 → 280
      FAM181; FAM181

    5. NM_138344.5 → NP_612353.3  protein FAM181A isoform 1

      See identical proteins and their annotated locations for NP_612353.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK093387, AL132642, BC009073, DB058808
      Consensus CDS
      CCDS9914.1
      UniProtKB/Swiss-Prot
      B2RD39, Q8N9Y4, Q96GY1
      Related
      ENSP00000267594.5, ENST00000267594.5
      Conserved Domains (1) summary
      pfam15238
      Location:65 → 342
      FAM181

    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
      93918894..93929608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1033456..1044170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88146203..88156917
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9Y4.3 GenPept UniProtKB/Swiss-Prot:Q8N9Y4

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

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