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    FAM169A family with sequence similarity 169 member A [ Homo sapiens (human) ]

    Gene ID: 26049, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FAM169Aprovided by HGNC
    Official Full Name
    family with sequence similarity 169 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:29138
    See related
    Ensembl:ENSG00000198780 MIM:615769; AllianceGenome:HGNC:29138
    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
    SLAP; SLAP75
    Summary
    Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 10.3), testis (RPKM 7.3) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM169A in Genome Data Viewer
    Location:
    5q13.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (74777574..74866966, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (75258467..75347878, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (74073399..74162791, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73936823-73937538 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:73937539-73938252 Neighboring gene Sharpr-MPRA regulatory region 10699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22671 Neighboring gene ectodermal-neural cortex 1 Neighboring gene hexosaminidase subunit beta Neighboring gene ReSE screen-validated silencer GRCh37_chr5:73973961-73974139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:73980770-73981270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74001994-74002494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:74002495-74002995 Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22675 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:74090248-74090748 Neighboring gene NSA2 ribosome biogenesis factor Neighboring gene ARPC1A pseudogene 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:74110781-74111468 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:74112436-74113179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16097 Neighboring gene FAM169A antisense RNA 1 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:74178519-74179391 Neighboring gene uncharacterized LOC105379039

    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. Manipulation of the nuclear envelope-associated protein SLAP during mammalian brain development affects cortical lamination and exploratory behavior. Mestres I, et al. Biol Open, 2024 Mar 1. PMID 38466184, Free PMC Article
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Dec 31. PMID 10048485
    3. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells. Roux KJ, et al. J Cell Biol, 2012 Mar 19. PMID 22412018, Free PMC Article
    4. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
    5. Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane. Hannigan MM, et al. Mol Cell Proteomics, 2020 Nov. PMID 32788342, Free PMC Article

    See all (26) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0888

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    soluble lamin-associated protein of 75 kDa
    Names
    Soluble-Lamin Associated Protein
    protein FAM169A
    soluble lamina-associated protein of 75 kD

    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_001376049.1 → NP_001362978.1  soluble lamin-associated protein of 75 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214
      Consensus CDS
      CCDS43330.1
      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4
      UniProtKB/TrEMBL
      D6RB01
      Related
      ENSP00000508577.1, ENST00000687041.1

    2. NM_001376050.1 → NP_001362979.1  soluble lamin-associated protein of 75 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214
      Consensus CDS
      CCDS43330.1
      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4
      UniProtKB/TrEMBL
      D6RB01

    3. NM_001376051.1 → NP_001362980.1  soluble lamin-associated protein of 75 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214
      Consensus CDS
      CCDS43330.1
      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4
      UniProtKB/TrEMBL
      D6RB01

    4. NM_001376052.1 → NP_001362981.1  soluble lamin-associated protein of 75 kDa isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214
      Consensus CDS
      CCDS43330.1
      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4
      UniProtKB/TrEMBL
      D6RB01

    5. NM_001376053.1 → NP_001362982.1  soluble lamin-associated protein of 75 kDa isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214
      UniProtKB/TrEMBL
      D6RB01

    6. NM_001376054.1 → NP_001362983.1  soluble lamin-associated protein of 75 kDa isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214

    7. NM_015566.3 → NP_056381.1  soluble lamin-associated protein of 75 kDa isoform 1

      See identical proteins and their annotated locations for NP_056381.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and is protein-coding.
      Source sequence(s)
      AB020695, AC010501, AC093214, DA326879
      Consensus CDS
      CCDS43330.1
      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4
      UniProtKB/TrEMBL
      D6RB01
      Related
      ENSP00000373808.4, ENST00000389156.9

    RNA

    1. NR_046462.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate 5'-most exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC093214, AK022981, BX640902, DB024270
      Related
      ENST00000510609.5

    2. NR_164753.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214

    3. NR_164754.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010501, AC093214

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      74777574..74866966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417083.1 → XP_047273039.1  soluble lamin-associated protein of 75 kDa isoform X1

    2. XM_047417085.1 → XP_047273041.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    3. XM_047417086.1 → XP_047273042.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    4. XM_047417084.1 → XP_047273040.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    5. XM_047417087.1 → XP_047273043.1  soluble lamin-associated protein of 75 kDa isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      75258467..75347878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352333.1 → XP_054208308.1  soluble lamin-associated protein of 75 kDa isoform X1

    2. XM_054352335.1 → XP_054208310.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    3. XM_054352336.1 → XP_054208311.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    4. XM_054352334.1 → XP_054208309.1  soluble lamin-associated protein of 75 kDa isoform X2

      UniProtKB/Swiss-Prot
      A8K1T9, Q6MZT0, Q9H989, Q9Y6X4

    5. XM_054352337.1 → XP_054208312.1  soluble lamin-associated protein of 75 kDa isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y6X4.2 GenPept UniProtKB/Swiss-Prot:Q9Y6X4

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