FAM111A (FAM111 trypsin like peptidase A)

2014-11-01  

Identity

HGNC
LOCATION
11q12.1
LOCUSID
ALIAS
GCLEB,KCS2
FUSION GENES

Other Information

Locus ID:

NCBI: 63901
MIM: 615292
HGNC: 24725
Ensembl: ENSG00000166801

Variants:

dbSNP: 63901
ClinVar: 63901
TCGA: ENSG00000166801
COSMIC: FAM111A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166801ENST00000361723Q96PZ2
ENSG00000166801ENST00000361723A0A024R4Z3
ENSG00000166801ENST00000420244Q96PZ2
ENSG00000166801ENST00000420244A0A024R4Z3
ENSG00000166801ENST00000527629E9PR18
ENSG00000166801ENST00000528737Q96PZ2
ENSG00000166801ENST00000528737A0A024R4Z3
ENSG00000166801ENST00000531147Q96PZ2
ENSG00000166801ENST00000531147A0A024R4Z3
ENSG00000166801ENST00000531408E9PNQ0
ENSG00000166801ENST00000533703Q96PZ2
ENSG00000166801ENST00000533703A0A024R4Z3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245616202014Nascent chromatin capture proteomics determines chromatin dynamics during DNA replication and identifies unknown fork components.119
236840112013FAM111A mutations result in hypoparathyroidism and impaired skeletal development.20
230939342012Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor.18
239964312014A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.9
246355972014Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.7
303331732019Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype.1

Citation

Dessen P

FAM111A (FAM111 trypsin like peptidase A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62993/fam111a