FAM111B - FAM111 trypsin like peptidase B Gene

中文名称：FAM111 胰蛋白酶样肽酶 B

种属: Homo sapiens

同用名: CANP; POIKTMP

基因 ID: 374393 | 基因类型: protein coding

关于 FAM111B

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:59,107,237-59,127,412 (from NCBI)

This gene has 6 transcripts (splice variants), 253 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in lymph node (RPKM 4.9), appendix (RPKM 2.8) and 17 other tissues.

功能概要

该基因编码的蛋白质在 C 端具有类似胰蛋白酶的半胱氨酸/丝氨酸肽酶结构域。该基因的突变与遗传性纤维化异色皮肤病 (HFP) 的常染色体显性遗传形式有关。受影响的个体表现出斑驳的色素沉着、毛细血管扩张、表皮萎缩、肌腱挛缩和进行性肺纤维化。可变剪接导致编码不同异构体的多个转录变体。该基因的旁系同源物也具有胰蛋白酶样肽酶结构域 FAM111A，位于人类染色体 11q12.1 上距该基因仅 16 kb 处。[RefSeq 提供，2014 年 4 月]

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]

FAM111B 基因产物(3)

mRNA	Protein	Name
NM_001142703.2	NP_001136175.1	serine protease FAM111B isoform b
NM_001142704.2	NP_001136176.1	serine protease FAM111B isoform b
NM_198947.4	NP_945185.1	serine protease FAM111B isoform a

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FAM111B 蛋白结构

Trypsin_2

0
200
400
600
734 a.a.

蛋白主名

其他名称

serine protease FAM111B

cancer-associated nucleoprotein

FAM111B 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Y2H Array	25416956
种属内	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Y2H Prey Pooling	25416956
种属内	FAM111B	Q6SJ93	SET	Homo sapiens	Q01105	Validated Y2H	25416956
种属内	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
种属内	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
种属内	FAM111B	Q6SJ93	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
种属内	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
种属内	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Y2H Array	32814053
种属内	FAM111B	Q6SJ93	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis

POIKTMP	Hereditary Sclerosing Poikiloderma With Tendon And Pulmonary Involvement
Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hereditary Fibrosing Poikiloderma-Tendon Contractures-Myopathy-Pulmonary Fibrosis Syndrome
Poiktmp Syndrome	Poikiloderma, Hereditary Sclerosing, With Tendon And Pulmonary Involvement
Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, And Pulmon	Hfp
Poikiloderma, Hereditary Fibrosing, Tendon Contractures, Myopathy, Pulmonary Fibrosis

Osseous Heteroplasia, Progressive

Progressive Osseous Heteroplasia	POH
Osteoma Cutis	Familial Ectopic Ossification
Ectopic Ossification Familial Type	Ectopic Ossification
Heterotopic Ossification	Ectopic Ossification, Familial
Cutaneous Ossification	Myositis Ossificans Progressiva
Osteodermia	Osteosis Cutis
Ossification Heterotopic	Heteroplasia, Osseous, Progressive
Fibrodysplasia Ossificans Progressiva

Pulmonary Fibrosis

Fibrosis Of Lung

Myositis

Idiopathic Inflammatory Myopathy	Idiopathic Inflammatory Myositis
Iim	Imm
Idiopathic Inflammatory Myopathies	Myopathy, Familial Idiopathic Inflammatory
Inflammatory Disorder Of Muscle	Idiopathic Inflammatory Myopathy, Familial
Inflammatory Myopathy, Idiopathic	Myopathies Idiopathic Inflammatory
Familial Idiopathic Inflammatory Myopathy

Hereditary Poikiloderma

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

Nevus Of Ota

Nevus Fusculoceruleus Ophthalmomaxillaris

Kenny-Caffey Syndrome

Kenny Syndrome

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome	Rts
RTS2	Poikiloderma Of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2	Congenital Poikiloderma
Poikiloderma Congenitale	Poikiloderma Atrophicans And Cataract
Poikiloderma Congenitale Of Rothmund-Thomson	Poikiloderma Of Rothmund-Thomson Type 2
Rothmund-Thomson Syndrome 2	Erythrokeratodermia Variabilis

Myopathy

Muscular Diseases

Myopathies

Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type	PN
Clericuzio Type Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio-Type
Clericuzio-Type Poikiloderma With Neutropenia	Poikiloderma With Neutropenia Clericuzio Type
Immune-Deficient Poikiloderma	Clericuzio-Type Poikiloderma Neutropenia Syndrome
Poikiloderma With Neutropenia Clericuzio-Type	Poikiloderma, With Neutropenia

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FAM111B - FAM111 trypsin like peptidase B Gene

关于 FAM111B

功能概要

FAM111B 基因产物(3)

FAM111B 蛋白结构

FAM111B 蛋白互作信息

关联疾病

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FAM111B - FAM111 trypsin like peptidase B Gene

关于 FAM111B

功能概要

FAM111B 基因产物(3)

FAM111B 蛋白结构

FAM111B 蛋白互作信息

关联疾病

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