1. Gene
  2. TSHZ1 - teashirt zinc finger homeobox 1 Gene

TSHZ1 - teashirt zinc finger homeobox 1 Gene

中文名称:茶衫锌指同源盒 1

种属: Homo sapiens

同用名: CAA; TSH1; NY-CO-33; SDCCAG33

基因 ID: 10194 | 基因类型: protein coding

关于 TSHZ1

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:75,210,797-75,289,944 (from NCBI)

This gene has 5 transcripts (splice variants), 267 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 18.5), placenta (RPKM 15.6) and 24 other tissues.

功能概要

该基因编码通过重组 cDNA 表达文库的血清学分析确定的结肠癌抗原。编码的蛋白质是 teashirt C2H2 型锌指蛋白家族的成员,可能参与发育过程的转录调控。该基因的突变可能与先天性耳道闭锁综合征有关。[RefSeq 提供,2012 年 1 月]

This gene encodes a colon Cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

TSHZ1 基因产物(2)

mRNA Protein Name
NM_001308210.2 NP_001295139.1 teashirt homolog 1 isoform 1
NM_005786.6 NP_005777.3 teashirt homolog 1 isoform 2

TSHZ1 蛋白结构

zf-C2H2_2

zf-C2H2_2: C2H2 type zinc-finger (2 copies) (245 - 280)

zf-C2H2_2

zf-C2H2_2: C2H2 type zinc-finger (2 copies) (304 - 333)

zf-C2H2_2

zf-C2H2_2: C2H2 type zinc-finger (2 copies) (415 - 443)

zf-C2H2_2

zf-C2H2_2: C2H2 type zinc-finger (2 copies) (972 - 1062)

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  • 1077 a.a.
蛋白主名 其他名称

teashirt homolog 1

antigen NY-CO-33

关联疾病

疾病名称 别名
Aural Atresia, Congenital

CAA

Aural Atresia, Congenital, With Hyposmia

External Auditory Canal Aplasia/Hypoplasia

External Auditory Canal Stenosis/Atresia

Anomaly Of Osseous Meatus

Vertical Talus, Congenital

Congenital Vertical Talus

CVT

Congenital Convex Pes Valgus

Rocker-Bottom Foot Deformity

Vertical Talus

Pes Valgus, Congenital Convex

Congenital Convex Foot

Congenital Rocker-Bottom Foot

Rocker Bottom Foot

Flatfoot

Rocker-Bottom Foot

Charcot-Marie-Tooth Disease, Foot Deformity Of

Chromosome 18q Deletion Syndrome

18q- Syndrome

Monosomy 18q

Deletion Of Long Arm Of Chromosome 18

Chromosome 18q- Syndrome

Deletion 18q

18q Deletion Syndrome

Distal 18q Deletion Syndrome

Chromosome 18 Long Arm Deletion Syndrome

Chromosome 18q Monosomy

Del Syndrome

Chromosome 18 Deletion Syndrome

Valproate Embryopathy

Fetal Valproate Syndrome

Fetal Valproic Acid Syndrome

Fvs

Valproic Acid Embryopathy

Fetal Valproate Spectrum Disorder

Valproate Embryopathy, Susceptibility To

Foetal Valproate Syndrome

Foetal Valproic Acid Syndrome

Susceptibility To Valproate Embryopathy

Valproic Acid Antenatal Infection

Hypertrichosis Universalis Congenita, Ambras Type

Ambras Syndrome

Hypertrichosis, Congenital Generalized

HTC1

HTC2

Chromosome Xq27.1 Interchromosomal Insertion Syndrome

Cgh

Hcg

Ambras Type Hypertrichosis Universalis Congenita

X-Linked Congenital Generalized Hypertrichosis

Congenital Generalized Hypertrichosis, Macias-Flores Type

Macias Flores-Garcia Cruz-Rivera Syndrome

Htc 1

Hypertrichosis Universalis Congenita Ambras Type

Hypertrichosis Congenital Generalized X-Linked

Macias-Flores Garcia-Cruz Rivera Syndrome

Congenital Generalized Hypertrichosis, Ambras Type

Substance-Induced Psychosis
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation

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
Canis familiaris TSHZ1 VGNC VGNC:47903
Macaca mulatta TSHZ1 VGNC VGNC:78553
Felis catus TSHZ1 VGNC VGNC:80541
Mus musculus TSHZ1 MGD MGI:1346031
Rattus norvegicus TSHZ1 RGD RGD:1311684
Bos taurus TSHZ1 VGNC VGNC:56375