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  2. COLEC11 - collectin subfamily member 11 Gene

COLEC11 - collectin subfamily member 11 Gene

中文名称:收集素亚科成员 11

种属: Homo sapiens

同用名: 3MC2; CLK1; CL-11; CL-K1-I; CL-K1-II; CL-K1-IIa; CL-K1-IIb

基因 ID: 78989 | 基因类型: protein coding

关于 COLEC11

Cytogenetic location: 2p25.3 Genomic coordinates (GRCh38): 2:3,595,112-3,644,644 (from NCBI)

This gene has 13 transcripts (splice variants), 198 orthologues, 4 paralogues and is associated with 3 phenotypes. Biased expression in gall bladder (RPKM 20.2), liver (RPKM 13.5) and 9 other tissues.

功能概要

该基因编码 C 型凝集素的聚集素家族成员,该凝集素具有胶原样序列和碳水化合物识别域。收集素是分泌性蛋白质,通过与微生物上的碳水化合物抗原结合,促进其识别和清除,在先天免疫系统中发挥重要作用。编码的蛋白质与多种糖结合,优先选择岩藻糖和甘露糖。该基因的突变是 3MC 综合征 2 的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 12 月]

This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on Microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

COLEC11 基因产物(10)

mRNA Protein Name
NM_001255982.2 NP_001242911.1 collectin-11 isoform c precursor
NM_001255983.2 NP_001242912.1 collectin-11 isoform d precursor
NM_001255984.2 NP_001242913.1 collectin-11 isoform e precursor
NM_001255985.1 NP_001242914.1 collectin-11 isoform f precursor
NM_001255986.1 NP_001242915.1 collectin-11 isoform g
NM_001255987.1 NP_001242916.1 collectin-11 isoform h
NM_001255988.1 NP_001242917.1 collectin-11 isoform i
NM_001255989.1 NP_001242918.1 collectin-11 isoform j
NM_024027.5 NP_076932.1 collectin-11 isoform a precursor
NM_199235.3 NP_954705.1 collectin-11 isoform b
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables D-mannose binding IDA
IDA: 通过直接分析推断
20956340 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
20956340 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
25912189 GOA
enables calcium-dependent carbohydrate binding IDA
IDA: 通过直接分析推断
25912189 GOA
enables fucose binding IDA
IDA: 通过直接分析推断
20956340 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20956340 GOA
enables oligosaccharide binding IDA
IDA: 通过直接分析推断
25912189 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20956340 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antimicrobial humoral response IDA
IDA: 通过直接分析推断
20956340 GOA
involved in complement activation IDA
IDA: 通过直接分析推断
23954398 GOA
involved in complement activation, lectin pathway IDA
IDA: 通过直接分析推断
24174618 GOA
involved in complement activation, lectin pathway IMP
IMP: 通过突变表型推断
25912189 GOA
involved in positive regulation of opsonization IDA
IDA: 通过直接分析推断
24174618 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
24174618 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
25912189 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

COLEC11 蛋白结构

Collagen

Collagen: Collagen triple helix repeat (20 copies) (41 - 92)

Collagen

Collagen: Collagen triple helix repeat (20 copies) (62 - 111)

Lectin_C

Lectin_C: Lectin C-type domain (160 - 266)

  • 0
  • 100
  • 200
  • 271 a.a.
蛋白主名 其他名称

collectin-11

Collectin K1

COLEC11 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
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740-1
ELISA
24174618
种属内
COLEC11 Q9BWP8 COLEC10 Homo sapiens Q9Y6Z7
ELISA
24174618
种属内
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740
ELISA
20956340
种属内
COLEC11 Q9BWP8 Q9BWP8-PRO_0000315044 Homo sapiens Q9BWP8-PRO_0000315044
Anti Bait CoIP
24174618
种属内
COLEC11 Q9BWP8 MASP2 Homo sapiens O00187
ELISA
24174618
种属内
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8
GMS
20956340
种属内
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740-2
ELISA
24174618
种属内
COLEC11 Q9BWP8 MASP1 Homo sapiens P48740
Anti Bait CoIP
24174618
种属内
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8
Ion Exchange Chrom
24174618
种属内
COLEC11 Q9BWP8 Q9Y6Z7-PRO_0000314233 Homo sapiens Q9Y6Z7-PRO_0000314233
Anti Bait CoIP
24174618
种属内
COLEC11 Q9BWP8 Q9BWP8-PRO_0000315044 Homo sapiens Q9BWP8-PRO_0000315044
Ion Exchange Chrom
24174618
种属内
COLEC11 Q9BWP8 COLEC11 Homo sapiens Q9BWP8
Comig Non-Denat Gel
20956340
种属内
COLEC11 Q9BWP8 Q9Y6Z7-PRO_0000314233 Homo sapiens Q9Y6Z7-PRO_0000314233
Ion Exchange Chrom
24174618
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 COLEC11 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70100 Collectin-11/CL-K1 Protein, Human (HEK293, His) Q9BWP8 (Q26-M271) ≥95%

关联疾病

疾病名称 别名
3mc Syndrome 2

3MC2

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Carnevale Syndrome

Carnevale Syndrome, Formerly

Carnevale Krajewska Fischetto Syndrome

3mc Syndrome, Type 2

3mc Syndrome

Craniofacial-Ulnar-Renal Syndrome

Malpuech Facial Clefting Syndrome

Oculopalatoskeletal Syndrome

Carnevale Syndrome

Michels Syndrome

Malpuech-Michels-Mingarelli-Carnevale Syndrome

Carnevale-Krajewska-Fischetto Syndrome

Craniosynostosis With Lid Anomalies

Malpuech Syndrome

Mingarelli Syndrome

Oculo-Skeletal-Abdominal Syndrome

Osa Syndrome

Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia

Ptosis-Strabismus-Rectus Abdominis Diastasis

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

3mc Syndrome 1

Oculopalatoskeletal Syndrome

3MC1

Craniosynostosis With Lid Anomalies

Michels Syndrome, Formerly

Michels Syndrome

3mc Syndrome, Type 1

Blepharophimosis
Properdin Deficiency, X-Linked

Properdin Deficiency

PFD

CFPD

Properdin P Factor Deficiency

Complement Factor Properdin Deficiency

X-Linked Properdin Deficiency

Properdin Deficiency, Type I

Properdin Deficiency, Type 1

Properdin Deficiency Disease

Van Maldergem Syndrome 1

Cerebrofacioarticular Syndrome

VMLDS1

Van Maldergem Syndrome

Cerebro-Facio-Articular Syndrome

Van Maldergem Wetzburger Verloes Syndrome

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Coffin-Siris Syndrome 9

Mrd27

CSS9

Mental Retardation, Autosomal Dominant 27

Autosomal Dominant Mental Retardation 27

Autosomal Dominant Non-Syndromic Intellectual Disability 27

Coffin-Siris Syndrome, Type 9

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Urinary Schistosomiasis

Schistosoma Haematobium Infection

Schistosoma Hematobium Infection

Schistosomiasis Due To Schistosoma Haematobium

Bladder Schistosomiasis

Cystitis With Bilharziasis

Schistosoma Haematobium

Schistosoma Hematobium Infectious Disease

Schistosomiasis Of Bladder

Vesical Schistosomiasis

Schistosomiasis Urinary

Schistosomiasis Haematobia

Genitourinary Bilharziasis

Genitourinary Tract Schistosomiasis

Schistosomiasis Due To Schistosoma Haematobium [Urinary Schistosomiasis]

Haematochyluria In Schistosomiasis

Infection Due To Schistosoma Matthei

Angioedema, Hereditary, 1

Hereditary Angioedema Type I

Hereditary Angioneurotic Edema

Hane

C1 Esterase Inhibitor Deficiency

Angioedema, Hereditary, 1 And 2

HAE1

Angioneurotic Edema, Hereditary

Angioedema, Hereditary, Type I

Hereditary Angioedema Type 2

Hae 2

Hae-Ii

Hereditary Angioneurotic Edema Type 2

Angioedema, Hereditary

HAE

Angioedema, Hereditary, Types I And Ii

Hereditary Angioedema, Type Ii

Angioedema, Hereditary, Type 1

Angioedemas, Hereditary

Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor

Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor

Hereditary Angioedema Types I And Ii

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Orofacial Cleft

Cleft, Orofacial

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 COLEC11 RGD RGD:1309678
Bos taurus COLEC11 VGNC VGNC:27578
Canis familiaris COLEC11 VGNC VGNC:39489
Macaca mulatta COLEC11 VGNC VGNC:71194
Felis catus COLEC11 VGNC VGNC:61072
Mus musculus COLEC11 MGD MGI:1918943
Others COLEC11 NCBI