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    FAM135B family with sequence similarity 135 member B [ Homo sapiens (human) ]

    Gene ID: 51059, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM135Bprovided by HGNC
    Official Full Name
    family with sequence similarity 135 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:28029
    See related
    Ensembl:ENSG00000147724 AllianceGenome:HGNC:28029
    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
    C8ORFK32
    Summary
    Predicted to be involved in cellular lipid metabolic process. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.0), brain (RPKM 2.6) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM135B in Genome Data Viewer
    Location:
    8q24.23
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (138130023..138497730, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (139246275..139615726, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (139142266..139509973, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375776 Neighboring gene uncharacterized LOC401478 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:138979816-138980380 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:139093353-139094000 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:139357155-139357654 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:139555607-139556806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706354-139706854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:139706855-139707355 Neighboring gene collagen type XXII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139782916-139783886 Neighboring gene MPRA-validated peak7186 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139806119-139806619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:139860841-139861342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:139925385-139926230 Neighboring gene Sharpr-MPRA regulatory region 3511 Neighboring gene Sharpr-MPRA regulatory region 9382 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:139965113-139965801 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:139966492-139967180 Neighboring gene NANOG hESC enhancer GRCh37_chr8:140009858-140010359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140033795-140034296 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:140181537-140182736 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:140221580-140221764 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:140227217-140228416 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:140294263-140294817 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:140416894-140417542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19572 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140440618-140441118 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:140441119-140441619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:140471614-140472148 Neighboring gene Sharpr-MPRA regulatory region 3867 Neighboring gene potassium two pore domain channel subfamily K member 9

    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. Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell. Bi L, et al. Gene, 2021 Mar 10. PMID 33340561
    2. Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients. Sheila M, et al. Neurobiol Dis, 2019 Apr. PMID 30391288
    3. A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression. Dong D, et al. Cancer Res, 2021 Feb 15. PMID 33323378
    4. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. Aslibekyan S, et al. Pharmacogenet Genomics, 2012 Mar. PMID 22228203, Free PMC Article
    5. Common genetic variation and performance on standardized cognitive tests. Cirulli ET, et al. Eur J Hum Genet, 2010 Jul. PMID 20125193, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression.
      Title: A GRN Autocrine-Dependent FAM135B/AKT/mTOR Feedforward Loop Promotes Esophageal Squamous Cell Carcinoma Progression.
    2. Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell.
      Title: Silencing FAM135B enhances radiosensitivity of esophageal carcinoma cell.
    3. Using microarray analysis reveals novel genes such as FAM135B, dysregulated in Spinal and bulbar muscular atrophy (SBMA). Knockdown of FAM135B results in neurodegeneration, indicating its role in SBMA.
      Title: Phenotypic and molecular features underlying neurodegeneration of motor neurons derived from spinal and bulbar muscular atrophy patients.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
    EBI GWAS Catalog
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German 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

    • MGC33221, MGC126009, MGC126010

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM135B

    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_001362965.2 → NP_001349894.1  protein FAM135B

      Status: VALIDATED

      Source sequence(s)
      AC068467, AC103777, AK091433, BC037288, BX110118, H05729
      Consensus CDS
      CCDS6375.2
      UniProtKB/Swiss-Prot
      B5MDB3, O95879, Q2WGJ7, Q3KP46, Q49AJ0
      Conserved Domains (2) summary
      pfam05057
      Location:1136 → 1330
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    2. NM_015912.4 → NP_056996.2  protein FAM135B

      Status: VALIDATED

      Source sequence(s)
      AC068467, AC103777, AK091433, BC037288, BX110118
      Consensus CDS
      CCDS6375.2
      UniProtKB/Swiss-Prot
      B5MDB3, O95879, Q2WGJ7, Q3KP46, Q49AJ0
      Related
      ENSP00000378710.1, ENST00000395297.6
      Conserved Domains (2) summary
      pfam05057
      Location:1136 → 1330
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      138130023..138497730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517062.2 → XP_011515364.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    2. XM_011517061.3 → XP_011515363.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    3. XM_011517063.3 → XP_011515365.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    4. XM_011517060.3 → XP_011515362.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    5. XM_011517058.3 → XP_011515360.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    6. XM_017013471.2 → XP_016868960.1  protein FAM135B isoform X3

    7. XM_011517056.3 → XP_011515358.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    8. XM_011517059.2 → XP_011515361.1  protein FAM135B isoform X1

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1334
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein FAM135

    9. XM_011517065.2 → XP_011515367.1  protein FAM135B isoform X2

      Conserved Domains (2) summary
      pfam05057
      Location:1124 → 1318
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:95 → 154
      DUF3657; Protein of unknown function (DUF3657)

    10. XM_011517069.3 → XP_011515371.1  protein FAM135B isoform X5

      Conserved Domains (1) summary
      pfam05057
      Location:1018 → 1212
      DUF676; Putative serine esterase (DUF676)

    11. XM_011517072.3 → XP_011515374.1  protein FAM135B isoform X8

      Conserved Domains (1) summary
      pfam05057
      Location:939 → 1133
      DUF676; Putative serine esterase (DUF676)

    12. XM_011517073.3 → XP_011515375.1  protein FAM135B isoform X9

      Conserved Domains (1) summary
      pfam05057
      Location:907 → 1101
      DUF676; Putative serine esterase (DUF676)

    13. XM_011517074.2 → XP_011515376.1  protein FAM135B isoform X10

      Conserved Domains (1) summary
      pfam05057
      Location:891 → 1085
      DUF676; Putative serine esterase (DUF676)

    14. XM_047421813.1 → XP_047277769.1  protein FAM135B isoform X4

    15. XM_047421814.1 → XP_047277770.1  protein FAM135B isoform X7

      Related
      ENSP00000276737.6, ENST00000276737.10

    16. XM_011517070.3 → XP_011515372.1  protein FAM135B isoform X6

      Conserved Domains (2) summary
      pfam05057
      Location:1140 → 1216
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 170
      DUF3657; Protein of unknown function (DUF3657)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      139246275..139615726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360536.1 → XP_054216511.1  protein FAM135B isoform X1

    2. XM_054360541.1 → XP_054216516.1  protein FAM135B isoform X1

    3. XM_054360542.1 → XP_054216517.1  protein FAM135B isoform X1

    4. XM_054360540.1 → XP_054216515.1  protein FAM135B isoform X1

    5. XM_054360539.1 → XP_054216514.1  protein FAM135B isoform X1

    6. XM_054360544.1 → XP_054216519.1  protein FAM135B isoform X3

    7. XM_054360538.1 → XP_054216513.1  protein FAM135B isoform X1

    8. XM_054360537.1 → XP_054216512.1  protein FAM135B isoform X1

    9. XM_054360543.1 → XP_054216518.1  protein FAM135B isoform X2

    10. XM_054360546.1 → XP_054216521.1  protein FAM135B isoform X5

    11. XM_054360549.1 → XP_054216524.1  protein FAM135B isoform X8

    12. XM_054360550.1 → XP_054216525.1  protein FAM135B isoform X9

    13. XM_054360551.1 → XP_054216526.1  protein FAM135B isoform X10

    14. XM_054360545.1 → XP_054216520.1  protein FAM135B isoform X4

    15. XM_054360547.1 → XP_054216522.1  protein FAM135B isoform X6

    16. XM_054360548.1 → XP_054216523.1  protein FAM135B isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49AJ0.2 GenPept UniProtKB/Swiss-Prot:Q49AJ0

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