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Aliases for FAM111B Gene

Aliases for FAM111B Gene

  • Family With Sequence Similarity 111, Member B 2 3
  • Cancer-Associated Nucleoprotein 3 4
  • POIKTMP 3 6
  • CANP 3 4
  • Protein FAM111B 3

External Ids for FAM111B Gene

Previous GeneCards Identifiers for FAM111B Gene

  • GC11P058632
  • GC11P058874
  • GC11P055220

Summaries for FAM111B Gene

Entrez Gene Summary for FAM111B Gene

  • This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]

GeneCards Summary for FAM111B Gene

FAM111B (Family With Sequence Similarity 111, Member B) is a Protein Coding gene. Diseases associated with FAM111B include poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis. An important paralog of this gene is FAM111A.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM111B Gene

Genomics for FAM111B Gene

Regulatory Elements for FAM111B Gene

Transcription factor binding sites by QIAGEN in the FAM111B gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAM111B Gene

Start:
59,107,185 bp from pter
End:
59,127,415 bp from pter
Size:
20,231 bases
Orientation:
Plus strand

Genomic View for FAM111B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM111B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM111B Gene

Proteins for FAM111B Gene

  • Protein details for FAM111B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6SJ93-F111B_HUMAN
    Recommended name:
    Protein FAM111B
    Protein Accession:
    Q6SJ93
    Secondary Accessions:
    • B4E2G2
    • Q6P661

    Protein attributes for FAM111B Gene

    Size:
    734 amino acids
    Molecular mass:
    84674 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62456.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM111B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM111B Gene

Proteomics data for FAM111B Gene at MOPED

Post-translational modifications for FAM111B Gene

  • Ubiquitination at Lys62, Lys102, Lys382, and Lys429
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM111B Gene

No data available for DME Specific Peptides for FAM111B Gene

Domains for FAM111B Gene

Protein Domains for FAM111B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM111B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6SJ93

UniProtKB/Swiss-Prot:

F111B_HUMAN :
  • Q6SJ93
Family:
  • Belongs to the FAM111 family.
genes like me logo Genes that share domains with FAM111B: view

No data available for Gene Families for FAM111B Gene

Function for FAM111B Gene

Gene Ontology (GO) - Molecular Function for FAM111B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM111B: view

Animal Model Products

CRISPR Products

miRNA for FAM111B Gene

miRTarBase miRNAs that target FAM111B

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM111B

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAM111B Gene

Localization for FAM111B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM111B Gene COMPARTMENTS Subcellular localization image for FAM111B gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM111B Gene

Pathways for FAM111B Gene

SuperPathways for FAM111B Gene

No Data Available

Interacting Proteins for FAM111B Gene

STRING Interaction Network Preview (showing 3 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.ENSP00000341565%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000361777%0d%0a9606.ENSP00000327214%0d%0a
Selected Interacting proteins: ENSP00000341565 Q6SJ93-F111B_HUMAN for FAM111B Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for FAM111B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FAM111B: view

No data available for Pathways by source for FAM111B Gene

Transcripts for FAM111B Gene

Unigene Clusters for FAM111B Gene

Family with sequence similarity 111, member B:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM111B

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FAM111B
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM111B Gene

No ASD Table

Relevant External Links for FAM111B Gene

GeneLoc Exon Structure for
FAM111B
ECgene alternative splicing isoforms for
FAM111B

Expression for FAM111B Gene

mRNA expression in normal human tissues for FAM111B Gene

mRNA differential expression in normal tissues according to GTEx for FAM111B Gene

This gene is overexpressed in Esophagus - Mucosa (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM111B Gene

SOURCE GeneReport for Unigene cluster for FAM111B Gene Hs.186579

mRNA Expression by UniProt/SwissProt for FAM111B Gene

Q6SJ93-F111B_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with FAM111B: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FAM111B Gene

Orthologs for FAM111B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM111B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM111B 35
  • 99.41 (n)
  • 98.64 (a)
FAM111B 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM111B 35
  • 78.44 (n)
  • 64.28 (a)
FAM111B 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM111B 35
  • 77.79 (n)
  • 61.97 (a)
FAM111B 36
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 37 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR450726.1 36
  • 23 (a)
ManyToMany
FP102192.1 36
  • 21 (a)
ManyToMany
Species with no ortholog for FAM111B:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 FAM111B Gene

ENSEMBL:
Gene Tree for FAM111B (if available)
TreeFam:
Gene Tree for FAM111B (if available)

Paralogs for FAM111B Gene

Paralogs for FAM111B Gene

Selected SIMAP similar genes for FAM111B Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for FAM111B Gene

genes like me logo Genes that share paralogs with FAM111B: view

Variants for FAM111B Gene

Sequence variations from dbSNP and Humsavar for FAM111B Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs625326 -- 59,121,068(+) ttttt(G/T)gaaaa intron-variant
rs1060428 - 59,124,750(+) GAAGG(A/G)TGAGA missense, reference
rs1938588 -- 59,126,594(+) AGGAC(A/G)TGAAC utr-variant-3-prime
rs1938589 -- 59,126,780(+) GCTTA(C/T)ACACT utr-variant-3-prime
rs1941711 -- 59,126,462(-) cgtag(G/T)tgtgt utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FAM111B Gene

Variant ID Type Subtype PubMed ID
dgv158e201 CNV Deletion 23290073
dgv385e1 CNV Complex 17122850
nsv428258 CNV Loss 18775914
dgv386e1 CNV Complex 17122850
dgv14n68 CNV Gain 17160897
nsv469559 CNV Complex 16826518
nsv471671 CNV Gain 15918152
dgv387e1 CNV Complex 17122850
nsv468578 CNV Loss 19166990
dgv388e1 CNV Complex 17122850
esv2744562 CNV Deletion 23290073
nsv331 CNV Insertion 18451855

Relevant External Links for FAM111B Gene

HapMap Linkage Disequilibrium report
FAM111B
Human Gene Mutation Database (HGMD)
FAM111B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM111B Gene

Disorders for FAM111B Gene

(1) OMIM Diseases for FAM111B Gene (615584)

UniProtKB/Swiss-Prot

F111B_HUMAN
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. {ECO:0000269 PubMed:24268661}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with FAM111B: view

Publications for FAM111B Gene

  1. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (PMID: 24268661) Mercier S. … Mayosi B.M. (Am. J. Hum. Genet. 2013) 2 3 4
  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
  3. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P. … Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3 4
  4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PMID: 23000965) Povlsen L.K. … Choudhary C. (Nat. Cell Biol. 2012) 3
  5. Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo M.F. … Soares M.B. (Genome Res. 1996) 3

Products for FAM111B Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate FAM111B
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for FAM111B
    • Block miRNA regulation of FAM111B using miScript Target Protectors

    Sources for FAM111B Gene

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