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

Gene ID: 90050, updated on 5-Mar-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
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93918894..93929608)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88146203..88156917)
105.20220307 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
  • 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. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (8) 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_2023_10

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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