2. Gene
  3. PKHD1L1 - PKHD1 like 1 Gene

PKHD1L1 - PKHD1 like 1 Gene

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

中文名称：PKHD1 样 1

种属: Homo sapiens

同用名: PKHDL1

基因 ID: 93035 | 基因类型: protein coding

关于 PKHD1L1

Cytogenetic location: 8q23.1-q23.2 Genomic coordinates (GRCh38): 8:109,362,461-109,537,207 (from NCBI)

This gene has 4 transcripts (splice variants), 154 orthologues and 36 paralogues. Biased expression in thyroid (RPKM 10.5) and lymph node (RPKM 0.8).

功能概要

预计在声音的感官知觉的上游或内部起作用。预测位于胞质溶胶中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PKHD1L1 基因产物(1)

mRNA Protein Name
NM_177531.6 NP_803875.2 fibrocystin-L precursor

PKHD1L1 蛋白结构

TIG

TIG: IPT/TIG domain (31 - 118)

TIG

TIG: IPT/TIG domain (146 - 255)

TIG

TIG: IPT/TIG domain (271 - 337)

PA14

PA14: PA14 domain (364 - 466)

TIG

TIG: IPT/TIG domain (1067 - 1138)

TIG

TIG: IPT/TIG domain (1156 - 1234)

TIG

TIG: IPT/TIG domain (1240 - 1313)

TIG

TIG: IPT/TIG domain (1331 - 1386)

TIG

TIG: IPT/TIG domain (1566 - 1641)

TIG

TIG: IPT/TIG domain (1659 - 1743)

TIG

TIG: IPT/TIG domain (1749 - 1823)

TIG

TIG: IPT/TIG domain (1833 - 1910)

TIG

TIG: IPT/TIG domain (1916 - 1997)

TIG

TIG: IPT/TIG domain (2000 - 2085)

TIG

TIG: IPT/TIG domain (2091 - 2165)

G8

G8: G8 domain (2185 - 2303)

G8

G8: G8 domain (3036 - 3173)

Beta_helix

Beta_helix: Right handed beta helix region (3409 - 3539)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4243 a.a.
蛋白主名 其他名称

fibrocystin-L

PKHD1-like protein 1

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 5

Primary Ciliary Dyskinesia 5

CILD5

Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

Primary Ciliary Dyskinesia 5 Without Situs Inversus

Ics5

Immotile Cilia Syndrome 5

Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 5
Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10597 PKHD1L1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus PKHD1L1 VGNC VGNC:109395
Felis catus PKHD1L1 VGNC VGNC:64193
Mus musculus PKHD1L1 MGD MGI:2183153
Macaca mulatta PKHD1L1 VGNC VGNC:75834
Rattus norvegicus PKHD1L1 RGD RGD:1310406
Canis familiaris PKHD1L1 VGNC VGNC:44606
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