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    FAM163A family with sequence similarity 163 member A [ Homo sapiens (human) ]

    Gene ID: 148753, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM163Aprovided by HGNC
    Official Full Name
    family with sequence similarity 163 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28274
    See related
    Ensembl:ENSG00000143340 MIM:611727; AllianceGenome:HGNC:28274
    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
    NDSP; C1orf76
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 5.6), adrenal (RPKM 3.7) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM163A in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (179727776..179816198)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179083538..179171949)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (179696911..179785333)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2152 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 pseudogene Neighboring gene tudor domain containing 5 Neighboring gene uncharacterized LOC105371635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2153 Neighboring gene uncharacterized LOC128071543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179713723-179714415 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:179757425-179757972 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:179782229-179782454 Neighboring gene uncharacterized LOC105371634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:179787655-179788640 Neighboring gene microRNA 12116 Neighboring gene uncharacterized LOC124904463 Neighboring gene long intergenic non-protein coding RNA 2818 Neighboring gene torsin 1A interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2154

    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. Neuroblastoma-derived secretory protein is a novel secreted factor overexpressed in neuroblastoma. Vasudevan SA, et al. Mol Cancer Ther, 2009 Aug. PMID 19671756, Free PMC Article
    2. Neuroblastoma-derived secretory protein messenger RNA levels correlate with high-risk neuroblastoma. Vasudevan SA, et al. J Pediatr Surg, 2007 Jan. PMID 17208556
    3. Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. Han X, et al. Br J Ophthalmol, 2024 May 21. PMID 37524447
    4. Unknown genes, Cebelin and Cebelin-like, predominantly expressed in mouse brain. Miwa H, et al. Heliyon, 2018 Sep. PMID 30294689, Free PMC Article
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations.
      Title: Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. NDSP is specifically overexpressed in neuroblastoma and actively secreted from tumor cells. Furthermore, NDSP serves as a growth factor for neuroblastoma tumor cells through activation of the ERK-mediated proliferation pathway.
      Title: Neuroblastoma-derived secretory protein is a novel secreted factor overexpressed in neuroblastoma.
    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

    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

    • MGC16664

    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM163A
    Names
    cebelin
    neuroblastoma derived secretory protein

    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_001329712.2 → NP_001316641.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      BC009382, DB139576
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    2. NM_001329713.2 → NP_001316642.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AK292432, AL359853, BC009382, DB066264
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    3. NM_001329714.2 → NP_001316643.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      BC009382, DB066264, DB089377
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    4. NM_001329715.2 → NP_001316644.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853, BC009382, DB091482, HY036705
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    5. NM_001329716.2 → NP_001316645.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853, BC009382, DB091482, HY036705
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    6. NM_001329717.2 → NP_001316646.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      BC009382, DA416655
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    7. NM_001329718.2 → NP_001316647.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AK310711, AL359853, BC009382
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    8. NM_001329719.2 → NP_001316648.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853, BC009382, DA402650
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    9. NM_001393415.1 → NP_001380344.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    10. NM_001393416.1 → NP_001380345.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    11. NM_001393417.1 → NP_001380346.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    12. NM_001393418.1 → NP_001380347.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    13. NM_001393419.1 → NP_001380348.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    14. NM_001393420.1 → NP_001380349.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    15. NM_001393421.1 → NP_001380350.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    16. NM_001393422.1 → NP_001380351.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    17. NM_001393423.1 → NP_001380352.1  protein FAM163A

      Status: VALIDATED

      Source sequence(s)
      AL359853
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    18. NM_173509.3 → NP_775780.1  protein FAM163A

      See identical proteins and their annotated locations for NP_775780.1

      Status: VALIDATED

      Source sequence(s)
      BC009382
      Consensus CDS
      CCDS1333.1
      UniProtKB/Swiss-Prot
      A8K8R7, Q96GL9
      Related
      ENSP00000354891.4, ENST00000341785.5
      Conserved Domains (1) summary
      pfam15069
      Location:1 → 166
      FAM163; FAM163 family

    RNA

    1. NR_138087.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      DB092551, DB151643

    2. NR_138088.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      DB061956, DB066264, DB151643

    3. NR_138089.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC009382, DB151643

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      179727776..179816198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      179083538..179171949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_138086.2: Suppressed sequence

      Description
      NR_138086.2: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GL9.1 GenPept UniProtKB/Swiss-Prot:Q96GL9

    Gene LinkOut

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

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