FAM111A - FAM111 trypsin like peptidase A Gene

Also Known as KCS2; GCLEB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63901

About FAM111A

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,142,856-59,155,039 (from NCBI)

This gene has 18 transcripts (splice variants), 280 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 18.4), lymph node (RPKM 18.1) and 25 other tissues.

Summary

The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

FAM111A Products (33)

mRNA	Protein	Name
NM_001142519.3	NP_001135991.1	serine protease FAM111A
NM_001142520.3	NP_001135992.1	serine protease FAM111A
NM_001142521.3	NP_001135993.1	serine protease FAM111A
NM_001312909.2	NP_001299838.1	serine protease FAM111A
NM_001312910.2	NP_001299839.1	serine protease FAM111A
NM_001312911.2	NP_001299840.1	serine protease FAM111A
NM_001369457.1	NP_001356386.1	serine protease FAM111A
NM_001374804.1	NP_001361733.1	serine protease FAM111A
NM_001374848.1	NP_001361777.1	serine protease FAM111A
NM_001374849.1	NP_001361778.1	serine protease FAM111A
NM_001374850.1	NP_001361779.1	serine protease FAM111A
NM_001374851.1	NP_001361780.1	serine protease FAM111A
NM_001374852.1	NP_001361781.1	serine protease FAM111A
NM_001374853.1	NP_001361782.1	serine protease FAM111A
NM_001374854.1	NP_001361783.1	serine protease FAM111A
NM_001374855.1	NP_001361784.1	serine protease FAM111A
NM_001374856.1	NP_001361785.1	serine protease FAM111A
NM_001374857.1	NP_001361786.1	serine protease FAM111A
NM_001374858.1	NP_001361787.1	serine protease FAM111A
NM_001374859.1	NP_001361788.1	serine protease FAM111A
NM_001374860.1	NP_001361789.1	serine protease FAM111A
NM_001374861.1	NP_001361790.1	serine protease FAM111A
NM_001374862.1	NP_001361791.1	serine protease FAM111A
NM_001374863.1	NP_001361792.1	serine protease FAM111A
NM_001374864.1	NP_001361793.1	serine protease FAM111A
NM_001374865.1	NP_001361794.1	serine protease FAM111A
NM_001374866.1	NP_001361795.1	serine protease FAM111A
NM_001374867.1	NP_001361796.1	serine protease FAM111A
NM_001374868.1	NP_001361797.1	serine protease FAM111A
NM_001374869.1	NP_001361798.1	serine protease FAM111A
NM_001374870.1	NP_001361799.1	serine protease FAM111A
NM_022074.4	NP_071357.2	serine protease FAM111A
NM_198847.3	NP_942144.1	serine protease FAM111A

FAM111A Protein Structure

Trypsin_2

0
100
200
300
400
500
611 a.a.

Protein Preferred Names	Protein Names
serine protease FAM111A	family with sequence similarity 111 member A

FAM111A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86289	FAM111A Antibody (YA5981)	WB, IHC-P, ICC/IF	Human

Related Diseases

Diseases	Alias
Gracile Bone Dysplasia	Osteocraniostenosis Osteocraniosplenic Syndrome Habrodysplasia GCLEB Skeletal Dysplasia, Lethal, With Gracile Bones Skeletal Dysplasia Lethal With Gracile Bones Lethal Skeletal Dysplasia With Gracile Bones
Kenny-Caffey Syndrome, Type 2	KCS2 Kenny-Caffey Syndrome Type 2 Autosomal Dominant Kenny-Caffey Syndrome Kenny Syndrome Dwarfism, Cortical Thickening Of Tubular Bones, And Transient Hypocalcemia Dwarfism, Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome, Autosomal Dominant Kenny-Caffey Syndrome 2 Dwarfism With Cortical Thickening Of Tubular Bones And Transient Hypocalcemia Kenny-Caffey Syndrome
Kenny-Caffey Syndrome	Kenny Syndrome
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Kenny-Caffey Syndrome, Type 1	KCS1 Kenny-Caffey Syndrome Type 1 Autosomal Recessive Kenny-Caffey Syndrome Kcs Kenny-Caffey Syndrome, Autosomal Recessive Kenny-Caffey Syndrome 1 Kenny-Caffey Syndrome Autosomal Recessive Kenny-Caffey Syndrome-1
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Sanjad-Sakati Syndrome Hrd Syndrome HRDS Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome Richardson-Kirk Syndrome Sss Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay Hypoparathyroidism With Short Stature, Mental Retardation And Seizures Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay
Ruijs-Aalfs Syndrome	Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome RJALS
Childhood Germ Cell Cancer	Pediatric Germ Cell Tumor Paediatric Germ Cell Cancer Paediatric Germ Cell Neoplasm Pediatric Germ Cell Cancer Pediatric Germ Cell Neoplasm
Hypoparathyroidism-Deafness-Renal Disease Syndrome	Barakat Syndrome Hypoparathyroidism, Deafness, Renal Disease Syndrome Hdr Syndrome Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Nanophthalmos	Nanophthalmia
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Mitochondrial Trifunctional Protein Deficiency	Tfp Deficiency MTPD Trifunctional Protein Deficiency Trifunctional Protein Deficiency With Myopathy And Neuropathy Tfpd Familial Hypertrophic Cardiomyopathy Cardiomyopathy Familial Hypertrophic Familial Hcm Heritable Hypertrophic Cardiomyopathy Mtp Deficiency Tpa Deficiency Trifunctional Protein Deficiency, Type 2 Abetalipoproteinemia
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04678	FAM111A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FAM111A	RGD	RGD:1560913
Felis catus	FAM111A	VGNC	VGNC:62049
Canis familiaris	FAM111A	VGNC	VGNC:40578
Mus musculus	FAM111A	MGD	MGI:1915508
Macaca mulatta	FAM111A	VGNC	VGNC:72334
Others	FAM111A	NCBI