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Aliases for FAM129A Gene

Aliases for FAM129A Gene

  • 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
  • Protein Niban 3
  • GIG39 3

External Ids for FAM129A Gene

Previous Symbols for FAM129A Gene

  • C1orf24

Summaries for FAM129A Gene

GeneCards Summary for FAM129A Gene

FAM129A (Family With Sequence Similarity 129, Member A) is a Protein Coding gene. Diseases associated with FAM129A include pineoblastoma. 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

Genomic Location for FAM129A Gene

Start:
184,790,724 bp from pter
End:
184,974,586 bp from pter
Size:
183,863 bases
Orientation:
Minus strand

Genomic View for FAM129A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM129A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM129A Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys482

Other Protein References for FAM129A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM129A Gene

Domains for FAM129A Gene

Protein Domains for FAM129A Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NIBAN_HUMAN
Family:
  • Belongs to the Niban family.:
    • Q9BZQ8
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 --
GO:0005515 protein binding IPI 22510990
genes like me logo Genes that share ontologies with FAM129A: view

Phenotypes for FAM129A Gene

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

Animal Models for FAM129A Gene

MGI Knock Outs for FAM129A:

miRNA for FAM129A Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FAM129A Gene

Localization for FAM129A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM129A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM129A Gene COMPARTMENTS Subcellular localization image for FAM129A gene
Compartment Confidence
nucleus 4
plasma membrane 4
cytosol 3
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FAM129A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with FAM129A: view

Pathways for FAM129A Gene

SuperPathways for FAM129A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM129A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0001934 positive regulation of protein phosphorylation ISS --
GO:0034976 response to endoplasmic reticulum stress ISS --
GO:0045727 positive regulation of translation ISS --
genes like me logo Genes that share ontologies with FAM129A: view

No data available for Pathways by source for FAM129A Gene

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 (6.2) and Heart - Left Ventricle (4.5).

Integrated Proteomics: protein expression 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 expressions with FAM129A: view

Orthologs for FAM129A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM129A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM129A 36
  • 99.35 (n)
  • 98.92 (a)
FAM129A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM129A 36
  • 83.94 (n)
  • 78.85 (a)
FAM129A 37
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM129A 36
  • 84.04 (n)
  • 79.76 (a)
FAM129A 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam129a 36
  • 79.46 (n)
  • 74.45 (a)
Fam129a 16
Fam129a 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM129A 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM129A 37
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam129a 36
  • 80.21 (n)
  • 75.19 (a)
chicken
(Gallus gallus)
Aves FAM129A 36
  • 73.51 (n)
  • 71.08 (a)
FAM129A 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM129A 37
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fam129aa 37
  • 33 (a)
OneToMany
fam129ab 37
  • 39 (a)
OneToMany
LOC561414 36
  • 58.94 (n)
  • 51.17 (a)
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

Selected 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 MAF
rs7360 -- 184,791,299(+) AATTG(C/T)TATGA utr-variant-3-prime
rs14023 -- 184,794,462(+) CAGCA(C/T)GGGTG utr-variant-3-prime
rs14426 -- 184,794,391(+) CTTCC(A/G)CCCTC utr-variant-3-prime
rs85671 -- 184,970,425(-) CATCT(A/G)TAGTC intron-variant
rs85672 -- 184,970,499(-) AGATA(C/T)AAAGT 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

Relevant External Links for FAM129A Gene

HapMap Linkage Disequilibrium report
FAM129A

Disorders for FAM129A Gene

(1) MalaCards Diseases for FAM129A Gene

Search for FAM129A Gene in MalaCards »

(3) University of Copenhagen DISEASES for FAM129A Gene

Relevant External Links for FAM129A

Genetic Association Database (GAD)
FAM129A
Human Genome Epidemiology (HuGE) Navigator
FAM129A
genes like me logo Genes that share disorders with FAM129A: view

No data available for UniProtKB/Swiss-Prot 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 49
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. [Pathogenesis of differentiated thyroid cancer (papillary and follicular)]. (PMID: 16444351) Maciel R.M. … Cerutti J.M. (Arq Bras Endocrinol Metabol 2005) 2 3

Products for FAM129A Gene

Sources for FAM129A Gene

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