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Aliases for FAM129A Gene

Aliases for FAM129A Gene

  • Family With Sequence Similarity 129 Member A 2 3 5
  • Family With Sequence Similarity 129, Member A 2 3
  • Cell Growth-Inhibiting Gene 39 Protein 3 4
  • C1orf24 3 4
  • NIBAN 3 4
  • Chromosome 1 Open Reading Frame 24 2
  • Cell Growth Inhibiting Protein 39 2
  • Protein FAM129A 4
  • GIG39 3

External Ids for FAM129A Gene

Previous HGNC Symbols for FAM129A Gene

  • C1orf24

Previous GeneCards Identifiers for FAM129A Gene

  • GC01M183027
  • GC01M155995

Summaries for FAM129A Gene

GeneCards Summary for FAM129A Gene

FAM129A (Family With Sequence Similarity 129 Member A) is a Protein Coding gene. An important paralog of this gene is FAM129C.

UniProtKB/Swiss-Prot for FAM129A Gene

  • Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).

Gene Wiki entry for FAM129A Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM129A Gene

Genomics for FAM129A Gene

Regulatory Elements for FAM129A Gene

Promoters for FAM129A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM129A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM129A Gene

Chromosome:
1
Start:
184,790,724 bp from pter
End:
184,975,138 bp from pter
Size:
184,415 bases
Orientation:
Minus strand

Genomic View for FAM129A Gene

Genes around FAM129A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM129A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM129A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM129A Gene

Proteins for FAM129A Gene

  • Protein details for FAM129A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZQ8-NIBAN_HUMAN
    Recommended name:
    Protein Niban
    Protein Accession:
    Q9BZQ8
    Secondary Accessions:
    • Q2TTR2
    • Q5TEM8
    • Q8TEI5
    • Q9H593
    • Q9H9Y8
    • Q9HCB9

    Protein attributes for FAM129A Gene

    Size:
    928 amino acids
    Molecular mass:
    103135 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Niban means second in Japanese.
    SequenceCaution:
    • Sequence=BAB17230.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for FAM129A Gene

Proteomics data for FAM129A Gene at MOPED

Post-translational modifications for FAM129A Gene

  • Ubiquitination at Lys 482
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM129A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FAM129A Gene

Domains & Families for FAM129A Gene

Protein Domains for FAM129A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM129A Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZQ8

UniProtKB/Swiss-Prot:

NIBAN_HUMAN :
  • Belongs to the Niban family.
Family:
  • Belongs to the Niban family.
genes like me logo Genes that share domains with FAM129A: view

No data available for Gene Families for FAM129A Gene

Function for FAM129A Gene

Molecular function for FAM129A Gene

UniProtKB/Swiss-Prot Function:
Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).

Gene Ontology (GO) - Molecular Function for FAM129A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FAM129A: view

Phenotypes for FAM129A Gene

MGI mutant phenotypes for FAM129A:
inferred from 1 alleles
GenomeRNAi human phenotypes for FAM129A:
genes like me logo Genes that share phenotypes with FAM129A: view

Animal Models for FAM129A Gene

MGI Knock Outs for FAM129A:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM129A Gene

Localization for FAM129A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM129A Gene

Cytoplasm. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM129A Gene COMPARTMENTS Subcellular localization image for FAM129A gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
nucleus 2
endosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FAM129A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 16949643
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with FAM129A: view

Pathways & Interactions for FAM129A Gene

SuperPathways for FAM129A Gene

No Data Available

SIGNOR curated interactions for FAM129A Gene

Other effect:

Gene Ontology (GO) - Biological Process for FAM129A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034976 response to endoplasmic reticulum stress IEA,ISS --
genes like me logo Genes that share ontologies with FAM129A: view

No data available for Pathways by source for FAM129A Gene

Drugs & Compounds for FAM129A Gene

No Compound Related Data Available

Transcripts for FAM129A Gene

Unigene Clusters for FAM129A Gene

Family with sequence similarity 129, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM129A Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1: - -
SP2: -
SP3:

Relevant External Links for FAM129A Gene

GeneLoc Exon Structure for
FAM129A
ECgene alternative splicing isoforms for
FAM129A

Expression for FAM129A Gene

mRNA expression in normal human tissues for FAM129A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM129A Gene

This gene is overexpressed in Whole Blood (x6.2) and Heart - Left Ventricle (x4.5).

Protein differential expression in normal tissues from HIPED for FAM129A Gene

This gene is overexpressed in Salivary gland (18.9) and Prostate (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM129A Gene



SOURCE GeneReport for Unigene cluster for FAM129A Gene Hs.518662

mRNA Expression by UniProt/SwissProt for FAM129A Gene

Q9BZQ8-NIBAN_HUMAN
Tissue specificity: Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle, pancreas, white blood cells and prostate with moderate expression in colon and spleen. Expressed in renal carcinoma cells but not in normal kidney.
genes like me logo Genes that share expression patterns with FAM129A: view

Protein tissue co-expression partners for FAM129A Gene

Primer Products

In Situ Assay Products

Orthologs for FAM129A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM129A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM129A 35
  • 83.94 (n)
  • 78.85 (a)
FAM129A 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM129A 35
  • 84.04 (n)
  • 79.76 (a)
FAM129A 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam129a 35
  • 79.46 (n)
  • 74.45 (a)
Fam129a 16
Fam129a 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM129A 35
  • 99.35 (n)
  • 98.92 (a)
FAM129A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam129a 35
  • 80.21 (n)
  • 75.19 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM129A 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM129A 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM129A 35
  • 73.51 (n)
  • 71.08 (a)
FAM129A 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM129A 36
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC561414 35
  • 58.94 (n)
  • 51.17 (a)
fam129aa 36
  • 33 (a)
OneToMany
fam129ab 36
  • 39 (a)
OneToMany
Species with no ortholog for FAM129A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM129A Gene

ENSEMBL:
Gene Tree for FAM129A (if available)
TreeFam:
Gene Tree for FAM129A (if available)

Paralogs for FAM129A Gene

Paralogs for FAM129A Gene

(2) SIMAP similar genes for FAM129A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM129A: view

Variants for FAM129A Gene

Sequence variations from dbSNP and Humsavar for FAM129A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12750174 - 184,795,866(+) CCAAC(A/G)AGCTA reference, missense
rs35704242 - 184,795,690(+) TTCAT(C/T)CTCAA reference, missense
rs17313374 - 184,795,606(+) TTCCA(C/T)GGACG reference, missense
rs35601690 - 184,795,276(+) CTTGC(C/T)CCCTC reference, missense
rs85671 -- 184,970,425(-) CATCT(A/G)TAGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM129A Gene

Variant ID Type Subtype PubMed ID
nsv832048 CNV Loss 17160897
esv2720195 CNV Deletion 23290073
nsv508677 CNV Loss 20534489
nsv3832 CNV Loss 18451855
esv267784 CNV Insertion 20981092
nsv3843 CNV Loss 18451855
nsv525731 CNV Gain 19592680
dgv411n71 CNV Gain 21882294
esv2617140 CNV Deletion 19546169
nsv511721 CNV Loss 21212237
nsv436157 CNV Deletion 17901297
esv2335294 CNV Deletion 18987734
esv2720206 CNV Deletion 23290073
nsv498696 CNV Loss 21111241
dgv6n6 CNV Loss 16902084
esv2521611 CNV Deletion 19546169
esv2244253 CNV Deletion 18987734
esv4945 CNV Deletion 18987735
esv2720217 CNV Deletion 23290073
esv1001682 CNV Deletion 20482838
esv1416043 CNV Deletion 17803354

Variation tolerance for FAM129A Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM129A Gene

HapMap Linkage Disequilibrium report
FAM129A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM129A Gene

Disorders for FAM129A Gene

Relevant External Links for FAM129A

Genetic Association Database (GAD)
FAM129A
Human Genome Epidemiology (HuGE) Navigator
FAM129A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM129A

No disorders were found for FAM129A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM129A Gene

Publications for FAM129A Gene

  1. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48 67
  2. [Pathogenesis of differentiated thyroid cancer (papillary and follicular)]. (PMID: 16444351) Maciel R.M. … Cerutti J.M. (Arq Bras Endocrinol Metabol 2005) 2 3
  3. A preoperative diagnostic test that distinguishes benign from malignant thyroid carcinoma based on gene expression. (PMID: 15085203) Cerutti J.M. … Riggins G.J. (J. Clin. Invest. 2004) 2 3
  4. microRNA-106b-mediated down-regulation of C1orf24 expression induces apoptosis and suppresses invasion of thyroid cancer. (PMID: 26317551) Carvalheira G. … Cerutti J.M. (Oncotarget 2015) 3
  5. Identifying biological pathways that underlie primordial short stature using network analysis. (PMID: 24711643) Hanson D. … Clayton P.E. (J. Mol. Endocrinol. 2014) 3

Products for FAM129A Gene

Sources for FAM129A Gene

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