1. Gene
  2. FAM111A - FAM111 trypsin like peptidase A Gene

FAM111A - FAM111 trypsin like peptidase A Gene

Homo sapiens

Also known as KCS2; GCLEB

Gene ID: 63901 | Gene type: protein coding

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

Trypsin_2: Trypsin-like peptidase domain (370 - 555)

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  • 611 a.a.
Protein Preferred Names Protein Names

serine protease FAM111A

family with sequence similarity 111 member A

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

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