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Aliases for FAM111B Gene

Aliases for FAM111B Gene

  • Family With Sequence Similarity 111 Member B 2 3 5
  • Cancer-Associated Nucleoprotein 3 4
  • CANP 3 4
  • Family With Sequence Similarity 111, Member B 2
  • Protein FAM111B 3
  • POIKTMP 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 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

Enhancers for FAM111B 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around FAM111B on UCSC Golden Path with GeneCards custom track

Promoters for FAM111B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

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

Genomic Location for FAM111B Gene

Chromosome:
11
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

Genes around FAM111B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM111B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FAM111B Gene

  • Ubiquitination at Lys 62, Lys 102, Lys 382, and Lys 429
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM111B Gene

No data available for DME Specific Peptides for FAM111B Gene

Domains & Families 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 :
  • Belongs to the FAM111 family.
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:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM111B: view
genes like me logo Genes that share phenotypes with FAM111B: view

Human Phenotype Ontology for FAM111B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for FAM111B Gene

miRTarBase miRNAs that target FAM111B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
cytosol 3
nucleus 3
cytoskeleton 2
mitochondrion 1

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

Pathways & Interactions for FAM111B Gene

SuperPathways for FAM111B Gene

No Data Available

Interacting Proteins for FAM111B Gene

Gene Ontology (GO) - Biological Process for FAM111B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM111B Gene

Drugs & Compounds for FAM111B Gene

No Compound Related Data Available

Transcripts for FAM111B Gene

Unigene Clusters for FAM111B Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 (x4.0).

Protein differential expression in normal tissues from HIPED for FAM111B Gene

This gene is overexpressed in Serum (41.0) and Lung (28.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM111B Gene



Protein tissue co-expression partners for FAM111B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM111B Gene:

FAM111B

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 expression patterns with FAM111B: view

Primer 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
cow
(Bos Taurus)
Mammalia FAM111B 34
  • 78.44 (n)
  • 64.28 (a)
FAM111B 35
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM111B 34
  • 77.79 (n)
  • 61.97 (a)
FAM111B 35
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM111B 34
  • 99.41 (n)
  • 98.64 (a)
FAM111B 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 10 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 37 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR450726.1 35
  • 23 (a)
ManyToMany
FP102192.1 35
  • 21 (a)
ManyToMany
Species where no ortholog for FAM111B 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)
  • 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

(1) 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
rs17153376 - 59,126,288(+) TTGAA(C/G/T)CCATG reference, missense
rs1060428 - 59,124,750(+) GAAGG(A/G)TGAGA reference, missense
rs587777236 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) 59,125,958(+) ATGTA(G/T)ACTGT reference, missense
rs587777237 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) 59,125,976(+) CCCAA(A/G)GAAGT reference, missense
rs587777238 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) 59,125,980(+) AAGAA(A/G)TTTCC reference, missense

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

Variant ID Type Subtype PubMed ID
dgv139e201 CNV deletion 23290073
dgv14n68 CNV gain 17160897
esv2744562 CNV deletion 23290073
esv2759830 CNV gain 17122850
nsv1043956 CNV gain 25217958
nsv1050013 CNV gain 25217958
nsv331 CNV insertion 18451855
nsv428258 CNV loss 18775914
nsv468578 CNV loss 19166990
nsv469559 CNV gain 16826518
nsv471671 CNV gain 15918152
nsv555147 CNV loss 21841781
nsv952455 CNV duplication 24416366

Variation tolerance for FAM111B Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM111B Gene

Human Gene Mutation Database (HGMD)
FAM111B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM111B

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

Disorders for FAM111B Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM111B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
  • poikiloderma, hereditary fibrosing, with tendon contractures, myopathy and pulmonary fibrosis
pulmonary fibrosis
  • fibrosis of lung
sweat gland disease
  • sweat gland diseases
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for FAM111B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM111B
genes like me logo Genes that share disorders with FAM111B: view

No data available for Genatlas for FAM111B Gene

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 65
  2. 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 65
  3. 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 65
  4. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3 65
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 65

Products for FAM111B Gene

Sources for FAM111B Gene

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