1. Gene
  2. UNC13D - unc-13 homolog D Gene

UNC13D - unc-13 homolog D Gene

中文名称:unc-13 同系物 D

种属: Homo sapiens

同用名: FHL3; HLH3; HPLH3; Munc13-4

基因 ID: 201294 | 基因类型: protein coding

关于 UNC13D

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,827,225-75,844,404 (from NCBI)

This gene has 21 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 20.9), lung (RPKM 16.7) and 21 other tissues.

功能概要

该基因编码的蛋白质是 UNC13 家族的成员,包含与其他家族成员相似的域结构,但缺少其他 Munc13 蛋白质中存在的 N 末端佛波醇酯结合 C1 域。该蛋白质似乎在胞吐过程中的囊泡成熟中发挥作用,并参与细胞溶解颗粒分泌的调节。该基因的突变与家族性噬血细胞性淋巴组织细胞增生症 3 型有关,这是一种遗传异质性、罕见的常染色体隐性遗传病。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as Other family members but lacking an N-terminal phorbol ester-binding C1 domain present in Other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]

UNC13D 基因产物(1)

mRNA Protein Name
NM_199242.3 NP_954712.1 protein unc-13 homolog D
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 protein binding IPI
IPI: 通过物理相互作用推断
15548590 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
22899725 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
22899725 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of exocytosis IMP
IMP: 通过突变表型推断
15548590 GOA
involved in positive regulation of regulated secretory pathway IGI
IGI: 通过遗传相互作用推断
22899725 GOA
involved in regulation of mast cell degranulation IMP
IMP: 通过突变表型推断
15548590 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Weibel-Palade body IDA
IDA: 通过直接分析推断
22899725 GOA
located in exocytic vesicle IDA
IDA: 通过直接分析推断
17237785 GOA
located in lysosome IDA
IDA: 通过直接分析推断
15548590 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

UNC13D 蛋白结构

C2

C2: C2 domain (113 - 220)

Membr_traf_MHD

Membr_traf_MHD: Munc13 (mammalian uncoordinated) homology domain (788 - 895)

C2

C2: C2 domain (927 - 1018)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1090 a.a.
蛋白主名 其他名称

protein unc-13 homolog D

UNC13D 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
UNC13D Q70J99 RHOG Homo sapiens P84095 33513601
种属内
UNC13D Q70J99 RHOG Homo sapiens P84095 33513601
种属内
UNC13D Q70J99 RAB27A Homo sapiens P51159 25312756
种属内
UNC13D Q70J99 RAB27A Homo sapiens P51159 16278825
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
Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3

FHL3

Hplh3

Hlh3

Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic

Haemophagocytic Syndrome

Lymphohistiocytosis Hemophagocytic

Hemophagocytic Syndrome

Familial Hemophagocytic Lymphocytosis

Histiocytoses Of Mononuclear Phagocytes

Haemophagocytic Lymphohistiocytosis Nos

Autoinflammatory Syndrome
Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2

GS2

Griscelli Syndrome With Hemophagocytic Syndrome

Partial Albinism And Immunodeficiency Syndrome

Paid Syndrome

Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome

Griscelli-Prunieras Syndrome Type 2

Griscelli-Pruniéras Syndrome Type 2

Griscelli Syndrome 2

Hemophagocytic Lymphohistiocytosis, Familial, 4

Familial Hemophagocytic Lymphohistiocytosis 4

FHL4

Hplh4

Hlh4

Lymphohistiocytosis, Hemophagocytic, Familial, Type 4

Griscelli Syndrome

Chediak-Higashi-Like Syndrome

Griscelli-Prunieras Syndrome

Partial Albinism-Immunodeficiency Syndrome

Griscelli Disease

Gs

Hypopigmentation Immunodeficiency Disease

Partial Albinism With Immunodeficiency

Immunodeficiency Syndrome With Hypopigmentation

Hypopigmentation-Immunodeficiency Disease

Macrophage Activation Syndrome
Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5

Hlh5

Hplh5

Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Lymphoproliferative Syndrome, X-Linked, 2

XLP2

Xiap Deficiency

X-Linked Lymphoproliferative Syndrome 2

X-Linked Lymphoproliferative Disease Due To Xiap Deficiency

Xiap-Related Lymphoproliferative Disease, X-Linked

X-Linked Lymphoproliferative Syndrome Type 2

Xiap Deficiency Syndrome

Psoriasis 15

Psors15

Lymphoproliferative Syndrome

Lymphoproliferative Disorder

Lymphoproliferative Disorders

Lymphoproliferative Disorders, Susceptibility To

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Lymphoproliferative Syndrome 1

LPFS1

Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1

Combined Immunodeficiency Due To Itk Deficiency

Autosomal Recessive Lymphoproliferative Disease Due To Itk Deficiency

Itk Deficiency

Chediak-Higashi Syndrome

CHS

Chédiak-Higashi Syndrome

Chediak - Steinbrinck Anomaly

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Oculocutaneous Albinism With Leukocyte Defect

Chediak-Higashi Disease

Chediak-Higashi-Steinbrink Syndrome

Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis

Duncan Disease

Purtilo Syndrome

X-Linked Lymphoproliferative Syndrome

Xlp

X-Linked Lymphoproliferative Disease

XLP1

Lyp

Lymphoproliferative Disease, X-Linked

Xlpd

X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

Ebv Infection, Severe, Susceptibility To

Ebvs

Immunodeficiency 5

Imd5

X-Linked Lymphoproliferative Syndrome 1

Epstein-Barr Virus Infection, Familial Fatal

Ebv Infection, Severe

Infectious Mononucleosis, Severe

Infectious Mononucleosis, Severe, Susceptibility To

Immunodeficiency, X-Linked Progressive Combined Variable

Epstein Barr Virus Infection, Familial Fatal

X-Linked Progressive Combined Variable Immunodeficiency 5

Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

Familial Fatal Epstein-Barr Infection

Severe Susceptibility To Ebv Infection

Severe Susceptibility To Infectious Mononucleosis

Sap Deficiency

Sh2d1a/Slam-Associated Protein Deficiency

X-Linked Lymphoproliferative Syndrome Type 1

X-Linked Progressive Combined Variable Immunodeficiency

Lymphoproliferative Syndrome, X-Linked

Sap

X-Linked Lymphoproliferative Disorder

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia

Cid Due To Magt1 Deficiency

Combined Immunodeficiency Due To Magt1 Deficiency

X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An

X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Schindler Disease, Type I

Schindler Disease Type 1

Alpha-N-Acetylgalactosaminidase Deficiency Type 1

Schindler Disease Type 3

Alpha-N-Acetylgalactosaminidase Deficiency Type 3

Naga Deficiency Type 3

Neuroaxonal Dystrophy, Schindler Type

Naga Deficiency Type 1

Alpha-N-Acetylgalactosaminidase Deficiency, Type I

Naga Deficiency, Type I

Schindler Disease, Type Iii

N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii

Alpha-N-Acetylgalactosaminidase Deficiency, Type 1

Naga Deficiency, Type 1

Schindler Disease Type I

Schindler Disease

SCHIND

Schindler Disease, Type 3

Schindler Disease, Type 1

Immunodeficiency 20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity

IMD20

Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Nk Cell Cytotoxicity

Cd16 Deficiency

Immunodeficiency, Type 20

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia

Mesoectodermal Dysplasia

EVC

Ellis Van Creveld Syndrome

Mesodermic Dysplasia

Ellis-Van Creveld Dysplasia

Familial Cold Autoinflammatory Syndrome 2

FCAS2

Nlrp12-Associated Hereditary Periodic Fever Syndrome

Familial Cold Autoinflammatory Syndrome Type 2

Familial Cold-Induced Autoinflammatory Syndrome Type 2

Naps12

Familial Cold Autoinflammatory Syndrome 2, Susceptibility To

Autoinflammatory Syndrome, Cold, Familial, Type 2

Piebald Trait

Piebaldism

PBT

Partial Albinism

Albinoidism, Oculocutaneous, Autosomal Dominant

Adult-Onset Still'S Disease

Adult-Onset Still Disease

Adult Onset Still'S Disease

Adult Still'S Disease

Still'S Disease Adult Onset

Aosd

Wissler-Fanconi Syndrome

Stills Disease Adult-Onset

Still'S Disease, Adult-Onset

Wissler'S Syndrome

Lymphoproliferative Syndrome 2

Cd27 Deficiency

LPFS2

Combined Immunodeficiency Due To Cd27 Deficiency

Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency

Selective Immunoglobulin Deficiency Disease
Acute Hemorrhagic Encephalitis
Dysgammaglobulinemia
Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Pancytopenia
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
Mus musculus UNC13D MGD MGI:1917700
Bos taurus UNC13D VGNC VGNC:36666
Felis catus UNC13D VGNC VGNC:66824
Rattus norvegicus UNC13D RGD RGD:628593
Macaca mulatta UNC13D VGNC VGNC:79375
Canis familiaris UNC13D VGNC VGNC:48136