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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
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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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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)

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

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