1. Gene
  2. UMODL1 - uromodulin like 1 Gene

UMODL1 - uromodulin like 1 Gene

中文名称:尿调节蛋白 1

种属: Homo sapiens

基因 ID: 89766 | 基因类型: protein coding

关于 UMODL1

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,062,877-42,142,996 (from NCBI)

This gene has 14 transcripts (splice variants), 178 orthologues and 5 paralogues. Low expression observed in reference dataset.

功能概要

预测为细胞外基质结构成分。预计参与中性粒细胞迁移。预计在多个过程的上游或内部起作用,包括脂肪组织发育;细胞对促性腺激素释放激素的反应;和卵泡发育的调节。预计位于细胞质和质膜外侧。预计是膜的组成部分。预计在顶端质膜中有活性;细胞表面;和细胞外空间。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in neutrophil migration. Predicted to act upstream of or within several processes, including adipose tissue development; cellular response to gonadotropin-releasing hormone; and regulation of ovarian follicle development. Predicted to be located in cytoplasm and external side of plasma membrane. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane; cell surface; and extracellular space. [provided by Alliance of Genome Resources, Apr 2022]

UMODL1 基因产物(4)

mRNA Protein Name
NM_001004416.3 NP_001004416.3 uromodulin-like 1 isoform 1 precursor
NM_001199527.3 NP_001186456.2 uromodulin-like 1 isoform 3
NM_001199528.4 NP_001186457.3 uromodulin-like 1 isoform 4
NM_173568.4 NP_775839.4 uromodulin-like 1 isoform 2 precursor

UMODL1 蛋白结构

EMI

EMI: EMI domain (34 - 99)

WAP

WAP: WAP-type (Whey Acidic Protein) 'four-disulfide core' (117 - 157)

EGF_CA

EGF_CA: Calcium-binding EGF domain (264 - 295)

SEA

SEA: SEA domain (396 - 485)

EGF_CA

EGF_CA: Calcium-binding EGF domain (507 - 538)

SEA

SEA: SEA domain (791 - 863)

EGF_CA

EGF_CA: Calcium-binding EGF domain (897 - 928)

Zona_pellucida

Zona_pellucida: Zona pellucida-like domain (993 - 1234)

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  • 1318 a.a.
蛋白主名 其他名称

uromodulin-like 1

olfactorin

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 8

Neurosensory Nonsyndromic Recessive Deafness 8

DFNB8

Dfnb10

Deafness, Autosomal Recessive 10

Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8

Nsrd8

Autosomal Recessive Nonsyndromic Deafness 8

Deafness, Autosomal Recessive 8/10

Autosomal Recessive Deafness 10

Autosomal Recessive Deafness 8

Childhood-Onset Neurosensory Autosomal Recessive Deafness 8

Nrsd8

Deafness, Autosomal Recessive, 8

Childhood-Onset Neurosensory Deafness Autosomal Recessive 8

Deafness Autosomal Recessive 10

Deafness Autosomal Recessive 8/10

Deafness Neurosensory Autosomal Recessive 8

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8

Deafness, Autosomal Recessive, Type 8/10

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

T-Cell Immunodeficiency With Thymic Aplasia

Nezelof Syndrome

T-Lymphocyte Deficiency

TIDTA

Immune Defect Due To Absence Of Thymus

Thymic Aplasia

Nezelof'S Syndrome

Thymic Dysplasia With Normal Immunoglobulins

Thymic Aplasia Syndrome

T-Lymphocyte Immunodeficiency

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 UMODL1 VGNC VGNC:66819
Bos taurus UMODL1 VGNC VGNC:52839
Rattus norvegicus UMODL1 RGD RGD:1566039
Mus musculus UMODL1 MGD MGI:1929785
Macaca mulatta UMODL1 VGNC VGNC:78717
Canis familiaris UMODL1 VGNC VGNC:53049