1. Gene
  2. GALNT11 - polypeptide N-acetylgalactosaminyltransferase 11 Gene

GALNT11 - polypeptide N-acetylgalactosaminyltransferase 11 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 11

种属: Homo sapiens

同用名: GALNACT11; GALNAC-T11

基因 ID: 63917 | 基因类型: protein coding

关于 GALNT11

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:152,025,674-152,122,340 (from NCBI)

This gene has 13 transcripts (splice variants), 205 orthologues and 19 paralogues. Broad expression in kidney (RPKM 69.9), placenta (RPKM 22.3) and 24 other tissues.

功能概要

启用 Notch 结合活性和多肽 N-乙酰半乳糖氨基转移酶活性。通过苏氨酸参与蛋白质 O-连接糖基化。预测位于高尔基体膜。预测在高尔基体中活跃。 [由基因组资源联盟提供,2022 年 4 月]

Enables Notch binding activity and polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

GALNT11 基因产物(20)

mRNA Protein Name
NM_001304514.2 NP_001291443.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 2
NM_001371458.1 NP_001358387.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371459.1 NP_001358388.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371460.1 NP_001358389.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371461.1 NP_001358390.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371462.1 NP_001358391.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371463.1 NP_001358392.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1
NM_001371464.1 NP_001358393.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 3
NM_001371465.1 NP_001358394.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 4
NM_001371466.1 NP_001358395.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 4
NM_001371467.1 NP_001358396.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 4
NM_001371468.1 NP_001358397.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 5
NM_001371469.1 NP_001358398.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 5
NM_001371470.1 NP_001358399.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 5
NM_001371471.1 NP_001358400.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 6
NM_001371472.1 NP_001358401.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 6
NM_001371473.1 NP_001358402.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 7
NM_001371474.1 NP_001358403.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 7
NM_001371475.1 NP_001358404.1 polypeptide N-acetylgalactosaminyltransferase 11 isoform 8
NM_022087.4 NP_071370.2 polypeptide N-acetylgalactosaminyltransferase 11 isoform 1

GALNT11 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (154 - 300)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (320 - 381)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (484 - 604)

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蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 11

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11

关联疾病

疾病名称 别名
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Renpenning Syndrome 1

Renpenning Syndrome

Golabi-Ito-Hall Syndrome

Mrxs3

Mrxs8

X-Linked Intellectual Disability Due To Pqbp1 Mutations

RENS1

Sutherland-Haan X-Linked Mental Retardation Syndrome

Shs

Mrx55

X-Linked Intellectual Disability, Renpenning Type

Sutherland-Haan Syndrome

Mental Retardation, X-Linked, Renpenning Type

Mental Retardation, X-Linked, With Spastic Diplegia

Mental Retardation, X-Linked, Syndromic 3

Mental Retardation, X-Linked, Syndromic 8

Mental Retardation, X-Linked 55

Syndromic X-Linked Mental Retardation 8

X-Linked Mental Retardation Renpenning Type

X-Linked Mental Retardation With Spastic Diplegia

Sutherland-Haan X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Disability With Spastic Diplegia

Hamel Cerebropalatocardiac Syndrome

Porteous Syndrome

X-Linked Intellectual Deficit Due To Pqbp1 Mutations

X-Linked Intellectual Deficit, Renpenning Type

X-Linked Intellectual Disability, Sutherland-Haan Type

Hamel Cerebro-Palato-Cardiac Syndrome

Renpenning Syndrome, Type 1

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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 GALNT11 MGD MGI:2444392
Macaca mulatta GALNT11 VGNC VGNC:72749
Rattus norvegicus GALNT11 RGD RGD:735097
Bos taurus GALNT11 VGNC VGNC:29224
Canis familiaris GALNT11 VGNC VGNC:41086
Felis catus GALNT11 VGNC VGNC:62443