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    FAM151B family with sequence similarity 151 member B [ Homo sapiens (human) ]

    Gene ID: 167555, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FAM151Bprovided by HGNC
    Official Full Name
    family with sequence similarity 151 member Bprovided by HGNC
    Primary source
    HGNC:HGNC:33716
    See related
    Ensembl:ENSG00000152380 AllianceGenome:HGNC:33716
    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
    UNQ9217
    Summary
    Predicted to be involved in photoreceptor cell development. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in bone marrow (RPKM 1.1), placenta (RPKM 0.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM151B in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80488100..80542563)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (80972095..81026566)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (79783919..79838382)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 211, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79703845-79704643 Neighboring gene zinc finger FYVE-type containing 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16139 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79783523-79784024 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79784025-79784524 Neighboring gene FAM151B divergent transcript Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:79789343-79789929 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79793017-79793517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:79802930-79803430 Neighboring gene RPS27A pseudogene 9 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:79808370-79809569 Neighboring gene ribosomal protein L7 pseudogene 24 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:79850523-79851153 Neighboring gene ankyrin repeat domain 34B Neighboring gene DBI pseudogene 2

    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. Construction and characterization of a normalized cDNA library. Soares MB, et al. Proc Natl Acad Sci U S A, 1994 Sep 27. PMID 7937745, Free PMC Article
    2. Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function. Findlay AS, et al. Sci Rep, 2020 Jan 16. PMID 31949211, Free PMC Article
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in photoreceptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM151B
    Names
    AASA9217

    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_205548.3 → NP_991111.2  protein FAM151B

      See identical proteins and their annotated locations for NP_991111.2

      Status: VALIDATED

      Source sequence(s)
      AY358256, BC131563, T10044
      Consensus CDS
      CCDS4051.1
      UniProtKB/Swiss-Prot
      A2RRE4, Q6UXP7
      Related
      ENSP00000282226.4, ENST00000282226.5
      Conserved Domains (1) summary
      pfam10223
      Location:29 → 263
      DUF2181; Uncharacterized conserved protein (DUF2181)

    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
      80488100..80542563
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543235.3 → XP_011541537.1  protein FAM151B isoform X4

      Conserved Domains (1) summary
      pfam10223
      Location:9 → 221
      DUF2181; Uncharacterized conserved protein (DUF2181)

    2. XM_011543234.3 → XP_011541536.1  protein FAM151B isoform X1

      Conserved Domains (1) summary
      pfam10223
      Location:45 → 279
      DUF2181; Uncharacterized conserved protein (DUF2181)

    3. XM_006714564.4 → XP_006714627.2  protein FAM151B isoform X2

      Conserved Domains (1) summary
      pfam10223
      Location:28 → 262
      DUF2181; Uncharacterized conserved protein (DUF2181)

    4. XM_017009166.2 → XP_016864655.1  protein FAM151B isoform X3

    5. XM_017009167.2 → XP_016864656.1  protein FAM151B isoform X3

    6. XM_047416868.1 → XP_047272824.1  protein FAM151B isoform X5

    7. XM_011543236.3 → XP_011541538.1  protein FAM151B isoform X5

      See identical proteins and their annotated locations for XP_011541538.1

      Conserved Domains (1) summary
      pfam10223
      Location:1 → 209
      DUF2181; Uncharacterized conserved protein (DUF2181)

    8. XM_011543237.3 → XP_011541539.1  protein FAM151B isoform X6

      Conserved Domains (1) summary
      pfam10223
      Location:6 → 163
      DUF2181; Uncharacterized conserved protein (DUF2181)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      80972095..81026566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351914.1 → XP_054207889.1  protein FAM151B isoform X4

    2. XM_054351910.1 → XP_054207885.1  protein FAM151B isoform X1

    3. XM_054351911.1 → XP_054207886.1  protein FAM151B isoform X2

    4. XM_054351912.1 → XP_054207887.1  protein FAM151B isoform X3

    5. XM_054351913.1 → XP_054207888.1  protein FAM151B isoform X3

    6. XM_054351915.1 → XP_054207890.1  protein FAM151B isoform X5

    7. XM_054351916.1 → XP_054207891.1  protein FAM151B isoform X5

    8. XM_054351917.1 → XP_054207892.1  protein FAM151B isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXP7.2 GenPept UniProtKB/Swiss-Prot:Q6UXP7

    Gene LinkOut

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

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