1. Gene
  2. ANKS1B - ankyrin repeat and sterile alpha motif domain containing 1B Gene

ANKS1B - ankyrin repeat and sterile alpha motif domain containing 1B Gene

中文名称:含锚蛋白重复序列和无菌 alpha 基序结构域 1B

种属: Homo sapiens

同用名: EB1; AIDA; EB-1; ANKS2; AIDA-1; cajalin-2

基因 ID: 56899 | 基因类型: protein coding

关于 ANKS1B

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,734,786-99,984,936 (from NCBI)

This gene has 35 transcripts (splice variants), 244 orthologues and 1 paralogue. Broad expression in brain (RPKM 8.0), thyroid (RPKM 1.1) and 21 other tissues.

功能概要

该基因编码一种多域蛋白,主要在大脑和睾丸中表达。这种蛋白质与淀粉样蛋白前体 (AbetaPP) 相互作用,可能在正常大脑发育和阿尔茨海默氏病的发病机制中发挥作用。该基因的表达已显示在与 t (1;19) 易位相关的前 B 细胞急性淋巴细胞白血病患者中升高。编码不同同种型 (一些具有不同的亚细胞定位,PMID:15004329) 的可变剪接转录变体已被描述为该基因。[RefSeq 提供,2011 年 8 月]

This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

ANKS1B 基因产物(52)

mRNA Protein Name
NM_001204065.2 NP_001190994.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform d
NM_001204066.2 NP_001190995.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform e
NM_001204067.2 NP_001190996.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform f
NM_001204068.2 NP_001190997.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform g
NM_001204069.2 NP_001190998.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform h
NM_001204070.2 NP_001190999.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform i
NM_001204079.2 NP_001191008.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform j
NM_001204080.2 NP_001191009.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k
NM_001204081.2 NP_001191010.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform l
NM_001352185.1 NP_001339114.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform p
NM_001352186.2 NP_001339115.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform m
NM_001352187.1 NP_001339116.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform o
NM_001352188.1 NP_001339117.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform n
NM_001352189.1 NP_001339118.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform v
NM_001352190.1 NP_001339119.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform qq
NM_001352191.2 NP_001339120.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ee
NM_001352192.2 NP_001339121.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform z
NM_001352193.2 NP_001339122.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform y
NM_001352194.2 NP_001339123.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform cc
NM_001352195.2 NP_001339124.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform r
NM_001352196.2 NP_001339125.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform s
NM_001352197.2 NP_001339126.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform w
NM_001352198.2 NP_001339127.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform q
NM_001352199.2 NP_001339128.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform aa
NM_001352200.2 NP_001339129.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform u
NM_001352201.2 NP_001339130.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform dd
NM_001352202.2 NP_001339131.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform pp
NM_001352203.2 NP_001339132.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform bb
NM_001352204.2 NP_001339133.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform t
NM_001352205.2 NP_001339134.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform oo
NM_001352206.2 NP_001339135.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform x
NM_001352207.2 NP_001339136.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform k
NM_001352208.2 NP_001339137.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg
NM_001352209.2 NP_001339138.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii
NM_001352210.2 NP_001339139.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform kk
NM_001352211.2 NP_001339140.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352212.2 NP_001339141.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352213.2 NP_001339142.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352214.2 NP_001339143.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352216.2 NP_001339145.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform nn
NM_001352217.2 NP_001339146.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform mm
NM_001352218.2 NP_001339147.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352219.2 NP_001339148.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ff
NM_001352220.2 NP_001339149.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352221.2 NP_001339150.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ii
NM_001352222.2 NP_001339151.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform gg
NM_001352223.2 NP_001339152.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform hh
NM_001352224.2 NP_001339153.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform ll
NM_001352225.2 NP_001339154.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform jj
NM_020140.4 NP_064525.1 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform c
NM_152788.4 NP_690001.3 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform a
NM_181670.4 NP_858056.2 ankyrin repeat and sterile alpha motif domain-containing protein 1B isoform b
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 ephrin receptor binding IPI
IPI: 通过物理相互作用推断
17875921 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15862129 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

ANKS1B 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (7 - 88)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (96 - 187)

Ank_5

Ank_5: Ankyrin repeats (many copies) (213 - 265)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (811 - 873)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (884 - 943)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (1062 - 1192)

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  • 1248 a.a.
蛋白主名 其他名称

ankyrin repeat and sterile alpha motif domain-containing protein 1B

E2a-Pbx1-associated protein

关联疾病

疾病名称 别名
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Osteogenesis Imperfecta, Type Ix

Osteogenesis Imperfecta Type 9

Osteogenesis Imperfecta Type Ix

OI9

Oi Type Ix

Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen

Oi, Type Ix

Oi 9

Osteogenesis Imperfecta 9

Oi-Ix

Supratentorial Meningioma
Avoidant Personality Disorder

Anxious Personality Disorder

Personality Disorders

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
Felis catus ANKS1B VGNC VGNC:83492
Canis familiaris ANKS1B VGNC VGNC:37917
Rattus norvegicus ANKS1B RGD RGD:1565556
Macaca mulatta ANKS1B VGNC VGNC:69689
Mus musculus ANKS1B MGD MGI:1924781