ACD - ACD shelterin complex subunit and telomerase recruitment factor Gene

中文名称：ACD shelterin 复合亚基和端粒酶募集因子

种属: Homo sapiens

同用名: PIP1; PTOP; TPP1; TINT1

基因 ID: 65057 | 基因类型: protein coding

关于 ACD

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,657,512-67,660,260 (from NCBI)

This gene has 44 transcripts (splice variants), 142 orthologues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 8.8), testis (RPKM 8.5) and 25 other tissues.

功能概要

该基因编码一种参与端粒功能的蛋白质。该蛋白是端粒/shelterin 端粒复合物中的六种核心蛋白之一，其功能是维持端粒长度和保护端粒末端。通过与其他成分的相互作用，该蛋白质在该复合物的组装和稳定中起着关键作用，并介导端粒酶进入端粒。已发现该基因编码不同异构体的多个转录变体。该基因也称为 TPP1，与 11 号染色体上无关的 TPP1 基因不同，后者编码三肽基肽酶 I。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of Telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

ACD 基因产物(3)

mRNA	Protein	Name
NM_001082486.2	NP_001075955.2	adrenocortical dysplasia protein homolog isoform 1
NM_001410884.1	NP_001397813.1	adrenocortical dysplasia protein homolog isoform 3
NM_022914.3	NP_075065.3	adrenocortical dysplasia protein homolog isoform 2

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 DNA polymerase binding	IPI IPI: 通过物理相互作用推断	17237767	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15181449	GOA
enables protein-containing complex binding	IPI IPI: 通过物理相互作用推断	25172512	GOA
enables telomerase inhibitor activity	IDA IDA: 通过直接分析推断	25172512	GOA
enables telomeric DNA binding	IDA IDA: 通过直接分析推断	23685356	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in establishment of protein localization to telomere	IMP IMP: 通过突变表型推断	25589350	GOA
involved in intracellular protein transport	IMP IMP: 通过突变表型推断	15181449	GOA
involved in negative regulation of telomere maintenance via telomerase	IDA IDA: 通过直接分析推断	25172512	GOA
involved in negative regulation of telomere maintenance via telomerase	IGI IGI: 通过遗传相互作用推断	15181449	GOA
involved in negative regulation of telomere maintenance via telomerase	IMP IMP: 通过突变表型推断	15380063	GOA
involved in positive regulation of single-stranded telomeric DNA binding	IDA IDA: 通过直接分析推断	17237767	GOA
involved in protein localization to chromosome, telomeric region	IDA IDA: 通过直接分析推断	15181449	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: 通过突变表型推断	15181449	GOA
involved in regulation of establishment of protein localization to telomere	IDA IDA: 通过直接分析推断	25172512	GOA
involved in telomere assembly	IMP IMP: 通过突变表型推断	16880378	GOA
involved in telomere capping	IDA IDA: 通过直接分析推断	21852327	GOA
involved in telomere capping	IGI IGI: 通过遗传相互作用推断	17632522	GOA
acts upstream of or within telomere maintenance	IDA IDA: 通过直接分析推断	15181449	GOA
involved in telomere maintenance via telomerase	IDA IDA: 通过直接分析推断	17237768	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromosome, telomeric region	IDA IDA: 通过直接分析推断	15380063	GOA
part of nuclear telomere cap complex	IDA IDA: 通过直接分析推断	16880378	GOA
part of shelterin complex	IDA IDA: 通过直接分析推断	15383534	GOA
part of shelterin complex	IMP IMP: 通过突变表型推断	21852327	GOA
part of shelterin complex	IPI IPI: 通过物理相互作用推断	15383534	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

ACD 蛋白结构

TPP1

0
100
200
300
400
500
544 a.a.

蛋白主名

其他名称

adrenocortical dysplasia protein homolog

POT1 and TIN2-interacting protein

ACD 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
Intra	ACD	Q96AP0	STIP1	Homo sapiens	P31948	BiFC	21044950
Intra	ACD	Q96AP0	DPYSL3	Homo sapiens	Q14195	BiFC	21044950
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5-1	GMS	16880378
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5-1	Anti Tag CoIP	16880378
Cross	ACD	Q96AP0	Rnf8	Mus musculus	Q8VC56	Anti Tag CoIP	22101936
Intra	ACD	Q96AP0	RGS3	Homo sapiens	P49796	BiFC	21044950
Intra	ACD	Q96AP0	TBCD	Homo sapiens	Q9BTW9	BiFC	21044950
Intra	ACD	Q96AP0	YWHAE	Homo sapiens	P62258	BiFC	21044950
Intra	ACD	Q96AP0	EIF3G	Homo sapiens	O75821	BiFC	21044950
Cross	ACD	Q96AP0	Pot1	Mus musculus	Q91WC1	Anti Tag CoIP	22101936
Intra	ACD	Q96AP0	TUBB2A	Homo sapiens	Q13885	BiFC	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	33961781
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Y2H Prey Pooling	25416956
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	GMS	16880378
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	16880378
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Y2H	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Anti Tag CoIP	15383534
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	IF	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Anti Tag CoIP	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	GMS	15383534
Intra	ACD	Q96AP0	STN1	Homo sapiens	Q9H668	BiFC	19648609
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	GMS	15383534
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	15383534
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	33961781
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	BiFC	21044950
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	28514442
Intra	ACD	Q96AP0	PDLIM2	Homo sapiens	Q96JY6	BiFC	21044950

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

Dyskeratosis Congenita, Autosomal Dominant 6

DKCA6	Dyskeratosis Congenita, Autosomal Recessive 7
Autosomal Dominant Dyskeratosis Congenita 6	Hereditary Isolated Aplastic Anemia
Dyskeratosis Congenita, Autosomal Dominant, 6	Dyskeratosis Congenita, Autosomal Recessive, 7
DKCB7

Hoyeraal Hreidarsson Syndrome

Hoyeraal-Hreidarsson Syndrome	Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome
Cerebellar Hypoplasia With Pancytopenia	Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia

Dyskeratosis Congenita Autosomal Recessive

Autosomal Recessive Dyskeratosis Congenita	Dkcb
Dyskeratosis Congenita, Autosomal Recessive

Melanoma, Cutaneous Malignant 1

Familial Melanoma	Melanoma, Cutaneous Malignant, Susceptibility To, 1
Melanoma, Malignant	CMM1
Melanoma, Cutaneous Malignant	Cmm
Familial Atypical Mole-Malignant Melanoma Syndrome	Fammm
Melanoma, Familial	Mlm
Dysplastic Nevus Syndrome, Hereditary	Dns
B-K Mole Syndrome	Melanoma, Cutaneous Malignant, 1
Malignant Melanoma, Cutaneous	Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1
Dysplastic Nevus Syndrome	Cutaneous Melanoma
Familial Atypical Mole Melanoma Syndrome	Hereditary Melanoma

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Pulmonary Fibrosis

Fibrosis Of Lung

Dyskeratosis Congenita, Autosomal Dominant 3

DKCA3	Autosomal Dominant Dyskeratosis Congenita 3
Dyskeratosis Congenita, Autosomal Dominant, 3	Dyskeratosis Congenita, Autosomal Dominant, Type 3

Revesz Syndrome

Exudative Retinopathy With Bone Marrow Failure	DKCA5
Dyskeratosis Congenita, Autosomal Dominant 5	Dyskeratosis Congenita With Bilateral Exudative Retinopathy
Retinopathy-Anemia-Central Nervous System Anomalies Syndrome	Revesz-Debuse Syndrome
Dyskeratosis Congenita, Autosomal Dominant, 5	Revesz Debuse Syndrome

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Dyskeratosis Congenita, Autosomal Recessive 1

DKCB1	Autosomal Recessive Dyskeratosis Congenita 1
Dyskeratosis Congenita, Autosomal Recessive, 1	Dyskeratosis Congenita, Autosomal Recessive, Type 1

Coats Disease

Exudative Retinopathy	Retinal Telangiectasis
Coats' Disease	Leber Miliary Aneurysm
Coats' Syndrome	Congenital Retinal Telangiectasia

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

目录号	产品名	作用方式	纯度	是否罕见病
HY-B0579	Cyclosporin A	Inhibitor	99.90%	是

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-144088	ZYF0033	Inhibitor	98.86%	否
HY-10063	Ispronicline	Agonist	98.24%	否
HY-B0579S	Cyclosporin A-d4		99.20%	否
HY-B0579S2	Cyclosporin A acetate-d4	Inhibitor	99.90%	否
HY-B0579S3	Cyclosporin A-13C2,d4	Inhibitor	95.21%	否
HY-RS00148	ACD Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-W044285	Fmoc-D-4-Aph(cBm)-OH		/	否
HY-W101384	Ac-D-2-Nal-OH		/	否
HY-114680	ACD-10284		/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	ACD	VGNC	VGNC:69533
Rattus norvegicus	ACD	RGD	RGD:1565053
Mus musculus	ACD	MGD	MGI:87873
Felis catus	ACD	VGNC	VGNC:59505
Bos taurus	ACD	VGNC	VGNC:25534
Canis familiaris	ACD	VGNC	VGNC:37502
Macaca fascicularis	ACD	NCBI	NCBI:102147132
Others	ACD	NCBI

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