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FAM185A family with sequence similarity 185 member A [ Homo sapiens (human) ]

Gene ID: 222234, updated on 5-Mar-2024

Summary

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Official Symbol
FAM185Aprovided by HGNC
Official Full Name
family with sequence similarity 185 member Aprovided by HGNC
Primary source
HGNC:HGNC:22412
See related
Ensembl:ENSG00000222011 AllianceGenome:HGNC:22412
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
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See FAM185A in Genome Data Viewer
Location:
7q22.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102748999..102850723)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104063664..104165101)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102389446..102491170)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POLR2J2-UPK3BL1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102321101-102321878 Neighboring gene uncharacterized LOC124901713 Neighboring gene RNA polymerase II subunit J2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102348051-102348175 Neighboring gene RAS p21 protein activator 4D, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2028 Neighboring gene ribosomal protein L7a pseudogene 39 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 pseudogene Neighboring gene RNA, U6 small nuclear 1136, pseudogene Neighboring gene F-box and leucine rich repeat protein 13 Neighboring gene RN7SK pseudogene 198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 Neighboring gene NANOG hESC enhancer GRCh37_chr7:102541113-102541614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:102580673-102581173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:102584236-102584801 Neighboring gene leucine rich repeat containing 17

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. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
  4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  5. Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery. Havugimana PC, et al. Nat Commun, 2022 Jul 13. PMID 35831314, Free PMC Article

See all (10) 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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

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

  • MGC35361

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 FAM185A

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_001145268.2 → NP_001138740.2  protein FAM185A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC006477, AC105052
    Consensus CDS
    CCDS47676.1
    UniProtKB/Swiss-Prot
    A8MUR7, B4DQD3, C9IZ91, Q8N0U4
    Related
    ENSP00000395340.2, ENST00000413034.3
    Conserved Domains (1) summary
    pfam13349
    Location:185 → 336
    DUF4097; Putative adhesin

  2. NM_001145269.2 → NP_001138741.2  protein FAM185A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the first exon and is missing the next coding exon compared to transcript variant 1. However, it maintains the reading frame and results in a shorter isoform (2) lacking a 118 aa protein segment compared to isoform 1.
    Source sequence(s)
    AC006477, AC105052
    Consensus CDS
    CCDS47677.1
    Related
    ENSP00000387066.3, ENST00000409231.7
    Conserved Domains (1) summary
    cl23960
    Location:98 → 196
    DUF4097; Putative adhesin

  3. NM_001350987.2 → NP_001337916.2  protein FAM185A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes isoform 3.
    Source sequence(s)
    AC006477, AC105052
    Conserved Domains (1) summary
    cl23960
    Location:152 → 282
    DUF4097; Putative adhesin

RNA

  1. NR_026879.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate donor splice site at the 5' terminal exon compared to transcript variant 1. The use of the translational start codon as in variant 1, results in premature translation termination, and renders this transcript a candidate for nonsense-mediated mRNA decay (NMD). The transcript is sufficiently abundant to represent it as a non-coding RefSeq record.
    Source sequence(s)
    AC006477, AC105052
    Related
    ENST00000420217.1

  2. NR_146976.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  3. NR_146977.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  4. NR_146978.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  5. NR_146979.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005250, AC006477, AC105052

  6. NR_146980.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  7. NR_146981.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005250, AC006477, AC105052

  8. NR_146982.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005250, AC006477, AC105052

  9. NR_146983.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  10. NR_146984.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005250, AC006477, AC105052

  11. NR_146985.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  12. NR_146986.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC005250, AC006477, AC105052

  13. NR_146987.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052

  14. NR_146989.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006477, AC105052
    Related
    ENST00000442873.5

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    102748999..102850723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    104063664..104165101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_147194.1: Suppressed sequence

    Description
    NM_147194.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N0U4.3 GenPept UniProtKB/Swiss-Prot:Q8N0U4

Gene LinkOut

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

Chemical Information
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