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Aliases for FAM179B Gene

Aliases for FAM179B Gene

  • Family With Sequence Similarity 179 Member B 2 3 5
  • KIAA0423 2 3 4
  • Protein FAM179B 3 4
  • Family With Sequence Similarity 179, Member B 2
  • Crescerin-1 3

External Ids for FAM179B Gene

Previous HGNC Symbols for FAM179B Gene

  • KIAA0423

Previous GeneCards Identifiers for FAM179B Gene

  • GC14P044502
  • GC14P045431
  • GC14P025542

Summaries for FAM179B Gene

GeneCards Summary for FAM179B Gene

FAM179B (Family With Sequence Similarity 179 Member B) is a Protein Coding gene. GO annotations related to this gene include binding. An important paralog of this gene is FAM179A.

UniProtKB/Swiss-Prot for FAM179B Gene

  • Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM179B Gene

Genomics for FAM179B Gene

Regulatory Elements for FAM179B Gene

Enhancers for FAM179B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F045249 1.1 FANTOM5 ENCODE 13.3 +289.8 289822 6.0 PKNOX1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 MIS18BP1 FANCM FAM179B KLHL28 PRPF39 GC14M044793
GH14F044988 0.6 Ensembl 11.8 +26.7 26693 0.2 OSR2 SMARCA4 POLR2A FEZF1 TRIM28 KLHL28 FAM179B ENSG00000212615 LOC105370474 PRPF39 GC14P044998
GH14F045138 0.8 FANTOM5 10.4 +176.3 176265 0.4 PRDM1 ENSG00000212615 LOC105370474 PRPF39 KLHL28 FAM179B SNORD127 ENSG00000258998 FANCM GC14M044793
GH14F045139 0.2 Ensembl 10.4 +176.7 176693 0.2 ENSG00000212615 LOC105370474 PRPF39 KLHL28 FAM179B SNORD127 ENSG00000258998 FANCM GC14M044793
GH14F044959 0.2 ENCODE 0.8 -0.3 -299 4.8 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YBX1 FEZF1 DMAP1 YY1 ZNF143 MIS18BP1 FANCM C14orf28 ENSG00000258998 FAM179B GC14M044938
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM179B on UCSC Golden Path with GeneCards custom track

Promoters for FAM179B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180253 1792 8400 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YBX1 FEZF1 DMAP1 YY1 ZNF143

Genomic Location for FAM179B Gene

Chromosome:
14
Start:
44,962,208 bp from pter
End:
45,074,431 bp from pter
Size:
112,224 bases
Orientation:
Plus strand

Genomic View for FAM179B Gene

Genes around FAM179B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM179B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM179B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM179B Gene

Proteins for FAM179B Gene

  • Protein details for FAM179B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4F4-CREC1_HUMAN
    Recommended name:
    Crescerin-1
    Protein Accession:
    Q9Y4F4
    Secondary Accessions:
    • Q68D66
    • Q6PG27

    Protein attributes for FAM179B Gene

    Size:
    1720 amino acids
    Molecular mass:
    189360 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA24853.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH18354.1; Type=Frameshift; Positions=1069, 1506; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM179B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM179B Gene

Post-translational modifications for FAM179B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM179B Gene

Domains & Families for FAM179B Gene

Protein Domains for FAM179B Gene

Suggested Antigen Peptide Sequences for FAM179B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4F4

UniProtKB/Swiss-Prot:

CREC1_HUMAN :
  • The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.
  • Belongs to the Crescerin family.
  • Contains 13 HEAT repeats.
Domain:
  • The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.
Family:
  • Belongs to the Crescerin family.
Similarity:
  • Contains 13 HEAT repeats.
genes like me logo Genes that share domains with FAM179B: view

No data available for Gene Families for FAM179B Gene

Function for FAM179B Gene

Molecular function for FAM179B Gene

UniProtKB/Swiss-Prot Function:
Required for normal structure and function of primary cilia. Plays a role in the organization of axoneme microtubule bundles in primary cilia (By similarity). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).
genes like me logo Genes that share phenotypes with FAM179B: view

Animal Model Products

miRNA for FAM179B Gene

miRTarBase miRNAs that target FAM179B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM179B Gene

Localization for FAM179B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM179B Gene

Cell projection, cilium. Cytoplasm, cytoskeleton. Note=Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact. {ECO:0000250 UniProtKB:Q6A070}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM179B Gene COMPARTMENTS Subcellular localization image for FAM179B gene
Compartment Confidence
endoplasmic reticulum 2
nucleus 2
cytosol 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FAM179B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005874 colocalizes_with microtubule ISS --
GO:0005929 cilium IEA,ISS --
GO:0036064 ciliary basal body IEA,ISS --
genes like me logo Genes that share ontologies with FAM179B: view

Pathways & Interactions for FAM179B Gene

SuperPathways for FAM179B Gene

No Data Available

Interacting Proteins for FAM179B Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000355045%0d%0a9606.ENSP00000376076%0d%0a9606.ENSP00000347184%0d%0a
Selected Interacting proteins: ENSP00000355045 Q9Y4F4-CREC1_HUMAN for FAM179B Gene via STRING IID

Gene Ontology (GO) - Biological Process for FAM179B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031116 positive regulation of microtubule polymerization IEA,ISS --
GO:0035082 axoneme assembly ISS --
GO:1905515 non-motile cilium assembly ISS --
genes like me logo Genes that share ontologies with FAM179B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM179B Gene

Transcripts for FAM179B Gene

Unigene Clusters for FAM179B Gene

Family with sequence similarity 179, member B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM179B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - -
SP2: - - -
SP3:
SP4:
SP5: -

Relevant External Links for FAM179B Gene

GeneLoc Exon Structure for
FAM179B
ECgene alternative splicing isoforms for
FAM179B

Expression for FAM179B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM179B Gene

Protein differential expression in normal tissues from HIPED for FAM179B Gene

This gene is overexpressed in Urinary Bladder (19.4), Heart (17.2), Urine (13.3), and Ovary (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM179B Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM179B Gene:

FAM179B

SOURCE GeneReport for Unigene cluster for FAM179B Gene:

Hs.371078
genes like me logo Genes that share expression patterns with FAM179B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for FAM179B Gene

Orthologs for FAM179B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM179B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM179B 34 35
  • 99.59 (n)
dog
(Canis familiaris)
Mammalia FAM179B 34 35
  • 91.17 (n)
cow
(Bos Taurus)
Mammalia FAM179B 34 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Fam179b 34
  • 87.19 (n)
mouse
(Mus musculus)
Mammalia Fam179b 34 16 35
  • 86.32 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM179B 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM179B 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM179B 34
  • 67.68 (n)
lizard
(Anolis carolinensis)
Reptilia FAM179B 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495084 34
  • 56.62 (n)
zebrafish
(Danio rerio)
Actinopterygii FAM179B 35
  • 30 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG42399 35
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea che-12 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 27 (a)
OneToMany
Species where no ortholog for FAM179B was found in the sources mined by GeneCards:
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for FAM179B Gene

ENSEMBL:
Gene Tree for FAM179B (if available)
TreeFam:
Gene Tree for FAM179B (if available)

Paralogs for FAM179B Gene

Paralogs for FAM179B Gene

(1) SIMAP similar genes for FAM179B Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FAM179B: view

Variants for FAM179B Gene

Sequence variations from dbSNP and Humsavar for FAM179B Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs10129173 -- 44,972,067(+) cttga(G/T)aactc intron-variant
rs10129998 -- 45,054,825(+) TTTTT(A/T)AAAAA intron-variant
rs10130162 -- 45,034,029(+) gcaca(C/T)gtctg intron-variant
rs10131349 -- 45,052,207(+) ctatt(A/G)taaag intron-variant
rs10131585 -- 45,059,634(+) ctggg(C/T)gacag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM179B Gene

Variant ID Type Subtype PubMed ID
dgv1904n100 CNV loss 25217958
esv2505295 CNV deletion 19546169
esv2748675 CNV deletion 23290073
esv3634341 CNV loss 21293372
nsv1038384 CNV loss 25217958
nsv1127379 CNV deletion 24896259
nsv1259 CNV deletion 18451855
nsv1260 CNV deletion 18451855
nsv832785 CNV loss 17160897

Variation tolerance for FAM179B Gene

Residual Variation Intolerance Score: 5.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.85; 83.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM179B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM179B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM179B Gene

Disorders for FAM179B Gene

Relevant External Links for FAM179B

Genetic Association Database (GAD)
FAM179B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM179B

No disorders were found for FAM179B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM179B Gene

Publications for FAM179B Gene

  1. Detection of hypothetical proteins in human fetal perireticular nucleus. (PMID: 16335990) Hepner F. … Lubec G. (J. Proteome Res. 2005) 3 4 64
  2. 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 64
  3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4 64
  4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 3 4 64
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64

Products for FAM179B Gene

Sources for FAM179B Gene

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