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

FAM111A - FAM111 trypsin like peptidase A Gene

中文名称:FAM111 胰蛋白酶样肽酶 A

种属: Homo sapiens

同用名: KCS2; GCLEB

基因 ID: 63901 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质受细胞周期调节,并具有核定位。该蛋白质的 C 端一半与胰蛋白酶样肽酶具有同源性,并且包含一个 PCNA 相互作用肽 (PIP) 盒,这是其与增殖细胞核抗原 (PCNA) 共定位所必需的。该基因的表达减少导致 DNA 复制缺陷,这与该基因在猿猴病毒 40 (SV40) 病毒复制中的作用一致。该基因的突变与 2 型肯尼卡菲综合征 (KCS) 和更严重的骨颅狭窄症 (OCS,也称为细骨发育不良) 有关,两者均以身材矮小、甲状旁腺功能减退、骨骼发育异常和低钙血症为特征。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 8 月]

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 基因产物(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 蛋白结构

Trypsin_2

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

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  • 611 a.a.
蛋白主名 其他名称

serine protease FAM111A

family with sequence similarity 111 member A

FAM111A 抗体

目录号 产品名 应用 反应物种
HY-P86289 FAM111A Antibody (YA5981) WB, IHC-P, ICC/IF, ICC Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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