2. Gene
  3. CTCFL - CCCTC-binding factor like Gene

CTCFL - CCCTC-binding factor like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：CCCTC 结合因子

种属: Homo sapiens

同用名: CT27; BORIS; CTCF-T; HMGB1L1; dJ579F20.2

基因 ID: 140690 | 基因类型: protein coding

关于 CTCFL

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:57,495,965-57,525,652 (from NCBI)

This gene has 22 transcripts (splice variants), 407 orthologues and 36 paralogues. Restricted expression toward testis (RPKM 3.5).

功能概要

CCCTC 结合因子 (CTCF) 是一种参与基因调控的 11 锌指因子，它利用不同的锌指结合不同的 DNA 靶位点。 CTCF 形成调节 X 染色体失活的甲基化敏感绝缘体。该基因是 CTCF 的旁系同源基因，似乎主要在精母细胞的细胞质中表达，不像 CTCF 主要在体细胞的细胞核中表达。 CTCF 和该基因编码的蛋白质通常以相互排斥的模式表达，这种模式与雄性生殖细胞分化过程中甲基化标记的重置相关。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2012 年 6 月]

CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

CTCFL 基因产物(21)

mRNA Protein Name
NM_001269040.2 NP_001255969.1 transcriptional repressor CTCFL isoform 1
NM_001269041.2 NP_001255970.1 transcriptional repressor CTCFL isoform 1
NM_001269042.2 NP_001255971.1 transcriptional repressor CTCFL isoform 2
NM_001269043.2 NP_001255972.1 transcriptional repressor CTCFL isoform 3
NM_001269044.3 NP_001255973.1 transcriptional repressor CTCFL isoform 4
NM_001269045.2 NP_001255974.1 transcriptional repressor CTCFL isoform 5
NM_001269046.2 NP_001255975.1 transcriptional repressor CTCFL isoform 6
NM_001269047.2 NP_001255976.1 transcriptional repressor CTCFL isoform 7
NM_001269048.3 NP_001255977.1 transcriptional repressor CTCFL isoform 8
NM_001269049.2 NP_001255978.1 transcriptional repressor CTCFL isoform 9
NM_001269050.3 NP_001255979.1 transcriptional repressor CTCFL isoform 10
NM_001269051.2 NP_001255980.1 transcriptional repressor CTCFL isoform 11
NM_001269052.3 NP_001255981.1 transcriptional repressor CTCFL isoform 11
NM_001269054.2 NP_001255983.1 transcriptional repressor CTCFL isoform 12
NM_001269055.3 NP_001255984.1 transcriptional repressor CTCFL isoform 13
NM_001386993.1 NP_001373922.1 transcriptional repressor CTCFL isoform 1
NM_001386994.1 NP_001373923.1 transcriptional repressor CTCFL isoform 2
NM_001386995.1 NP_001373924.1 transcriptional repressor CTCFL isoform 2
NM_001386996.1 NP_001373925.1 transcriptional repressor CTCFL isoform 11
NM_001386997.1 NP_001373926.1 transcriptional repressor CTCFL isoform 14
NM_080618.4 NP_542185.2 transcriptional repressor CTCFL isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
18413740 GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
16140944 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
16140944 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18765639 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
18765639 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
18413740 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 chromatin IMP
IMP: 通过突变表型推断
18765639 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
18413740 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
18413740 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
16140944 GOA
involved in transcription initiation-coupled chromatin remodeling IMP
IMP: 通过突变表型推断
18765639 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

CTCFL 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (272 - 296)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (300 - 324)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (328 - 351)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (357 - 378)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (385 - 408)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (428 - 451)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (473 - 496)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (502 - 524)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (546 - 568)

  • 0
  • 200
  • 400
  • 600
  • 663 a.a.
蛋白主名 其他名称

transcriptional repressor CTCFL

BORIS-like protein

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 21

MRD21

Mental Retardation, Autosomal Dominant 21

Autosomal Dominant Non-Syndromic Intellectual Disability 21

Autosomal Dominant Intellectual Developmental Disorder 21

Autosomal Dominant Mental Retardation 21

Ctcf-Related Neurodevelopmental Disorder

Mental Retardation, Autosomal Dominant, Type 21
Testicular Cancer

Testis Cancer

Testicular Carcinoma

Testicular Neoplasms

Malignant Neoplasm Of Testis

Childhood Neoplasm Of The Testis

Neoplasm Of Testis

Pediatric Testicular Neoplasm

Testicular Tumor

Testis Neoplasm

Testicular Tumors

Testicular Neoplasm

Testicular Malignant Germ Cell Tumor

Childhood Testicular Neoplasm

Carcinoma Of The Testis

Cancer Of Testis

Malignant Neoplasm Of Testis, Nos

Malignant Neoplasm Of Testis, Unspecified

Malignant Tumour Of Testis

Testicle Cancer

Primary Malignant Neoplasm Of Testis
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility
Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03288 CTCFL Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20388 Ctcfl Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CTCFL MGD MGI:3652571
Macaca mulatta CTCFL VGNC VGNC:71420
Canis familiaris CTCFL VGNC VGNC:54644
Rattus norvegicus CTCFL RGD RGD:2321501
Others CTCFL NCBI
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