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FAM111B family with sequence similarity 111 member B [ Homo sapiens (human) ]

Gene ID: 374393, updated on 5-Aug-2018

Summary

Official Symbol
FAM111Bprovided by HGNC
Official Full Name
family with sequence similarity 111 member Bprovided by HGNC
Primary source
HGNC:HGNC:24200
See related
Ensembl:ENSG00000189057 MIM:615584; Vega:OTTHUMG00000167279
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CANP; POIKTMP
Summary
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]
Expression
Broad expression in lymph node (RPKM 4.9), appendix (RPKM 2.8) and 17 other tissues See more
Orthologs

Genomic context

See FAM111B in Genome Data Viewer
Location:
11q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (59107185..59127415)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58874658..58894888)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283194 Neighboring gene glycine-N-acyltransferase like 1 pseudogene 4 Neighboring gene uncharacterized LOC105369315 Neighboring gene glycine-N-acyltransferase like 1B Neighboring gene FAM111A divergent transcript Neighboring gene protein kinase cAMP-dependent type II regulatory subunit beta pseudogene Neighboring gene family with sequence similarity 111 member A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
protein FAM111B
Names
cancer-associated nucleoprotein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034129.1 RefSeqGene

    Range
    5001..25231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142703.1NP_001136175.1  protein FAM111B isoform b

    See identical proteins and their annotated locations for NP_001136175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the exon containing the translation start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
    Source sequence(s)
    AY457926, BG613098, BM674379
    Consensus CDS
    CCDS44611.1
    UniProtKB/Swiss-Prot
    Q6SJ93
    Related
    ENSP00000432875.1, OTTHUMP00000235596, ENST00000529618.5, OTTHUMT00000393972
    Conserved Domains (1) summary
    pfam13365
    Location:445634
    Trypsin_2; Trypsin-like peptidase domain
  2. NM_001142704.1NP_001136176.1  protein FAM111B isoform b

    See identical proteins and their annotated locations for NP_001136176.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate 5' UTR exon and the exon containing the translation start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2 and 3 both encode the same isoform.
    Source sequence(s)
    AY457926, BG613098, BM674379, DC353500
    Consensus CDS
    CCDS44611.1
    UniProtKB/Swiss-Prot
    Q6SJ93
    Related
    ENSP00000393855.1, ENST00000411426.1
    Conserved Domains (1) summary
    pfam13365
    Location:445634
    Trypsin_2; Trypsin-like peptidase domain
  3. NM_198947.3NP_945185.1  protein FAM111B isoform a

    See identical proteins and their annotated locations for NP_945185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    AY457926, BG613098, BM674379
    Consensus CDS
    CCDS7972.1
    UniProtKB/Swiss-Prot
    Q6SJ93
    Related
    ENSP00000341565.3, OTTHUMP00000235597, ENST00000343597.3, OTTHUMT00000393974
    Conserved Domains (1) summary
    pfam13365
    Location:475664
    Trypsin_2; Trypsin-like peptidase domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    59107185..59127415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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