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  2. SPAM1 - sperm adhesion molecule 1 Gene

SPAM1 - sperm adhesion molecule 1 Gene

中文名称:精子粘附分子 1

种属: Homo sapiens

同用名: HYA1; PH20; HYAL1; HYAL3; HYAL5; PH-20; SPAG15; HEL-S-96n

基因 ID: 6677 | 基因类型: protein coding

关于 SPAM1

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,925,241-123,971,414 (from NCBI)

This gene has 7 transcripts (splice variants), 239 orthologues and 4 paralogues. Restricted expression toward testis (RPKM 5.9).

功能概要

透明质酸酶降解透明质酸,透明质酸是细胞外基质和基底膜中发现的一种主要结构蛋白多糖。透明质酸酶家族的六个成员在染色体 3p21.3 和 7q31.3 上聚集成两个紧密相连的组。该基因以前被称为 HYAL1 和 HYA1,并被指定为官方符号 SPAM1;染色体 3p21.3 上的另一个家族成员被指定为 HYAL1。该基因编码位于人类精子表面和顶体内膜上的 GPI 锚定酶。这种多功能蛋白质是一种透明质酸酶,可使精子穿透卵母细胞周围富含透明质酸的卵丘细胞层,一种在透明质酸诱导的细胞信号传导中起作用的受体,以及一种参与精子-透明带粘附的受体。该基因在肿瘤中的异常表达表明该蛋白参与导致肿瘤侵袭和转移的基底膜降解。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2010 年 3 月]

Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored Enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

SPAM1 基因产物(5)

mRNA Protein Name
NM_001174044.2 NP_001167515.1 hyaluronidase PH-20 isoform 2
NM_001174045.2 NP_001167516.1 hyaluronidase PH-20 isoform 2
NM_001174046.2 NP_001167517.1 hyaluronidase PH-20 isoform 2
NM_003117.5 NP_003108.2 hyaluronidase PH-20 isoform 1
NM_153189.3 NP_694859.1 hyaluronidase PH-20 isoform 2

SPAM1 蛋白结构

Glyco_hydro_56

Glyco_hydro_56: Hyaluronidase (39 - 374)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 509 a.a.
蛋白主名 其他名称

hyaluronidase PH-20

PH-20 hyaluronidase

关联疾病

疾病名称 别名
Mucopolysaccharidosis, Type Ix

Mucopolysaccharidosis Type Ix

Hyaluronidase Deficiency

MPS9

Mps Ix

Mucopolysaccharidosis Ix

Mpsix

Mucopolysaccharidosis Type 9

Mucopolysaccharidosis 9

Idiopathic Corneal Edema
Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Mucopolysaccharidosis, Type Ivb

Mucopolysaccharidosis Type Ivb

Mps Ivb

MPS4B

Morquio Syndrome B

Beta-D-Galactosidase Deficiency

Morquio Disease Type B

Mps 4b

Mucopolysaccharidosis Type 4b

Mpsivb

Morquio Disease, Type B

Mucopolysaccharidosis Type Iv-B

Mucopolysaccharidosis 4b

Morquio'S Syndrome B

Mps-Ivb

Mucopolysaccharidosis, Type Iiid

Mucopolysaccharidosis Type Iiid

MPS3D

Mps Iiid

N-Acetylglucosamine-6-Sulfatase Deficiency

Sanfilippo Syndrome D

Gns Deficiency

Mucopolysaccharidosis Type 3d

Sanfilippo Syndrome Type D

Glucosamine N-Acetyl-6-Sulfatase Deficiency

Mpsiiid

Mps 3d

Mucopoly-Saccharidosis Type 3d

N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency

Mps Iii-D

Mucopolysaccharidosis 3d

Sanfilippo D Syndrome

Mps Iii D

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis

Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

MPSPS

Mucopolysaccharidoses

Mps

Mucopolysaccharidosis-Like Plus Disease

Disorders Of Glycosaminoglycan Metabolism

Mucopolysaccharidosis, Type Iva

Mps Iva

Galns Deficiency

MPS4A

Morquio A Disease

Galactosamine-6-Sulfatase Deficiency

Morquio Syndrome A

Mucopolysaccharidosis Iva

Mucopolysaccharidosis Type Iva

Mpsiva

Morquio Disease Type A

Mucopolysaccharidosis Type 4a

N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

Morquio Syndrome Type A

Mps 4a

Morquio Disease, Type A

Mucopolysaccharidosis 4a

Morquio'S Syndrome A

Mps Iv A

Mucopolysaccharidosis Iv

Mucopolysaccharidosis, Mps-Iv-A

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
Macaca mulatta SPAM1 VGNC VGNC:77853
Canis familiaris SPAM1 VGNC VGNC:46700
Rattus norvegicus SPAM1 RGD RGD:620547
Felis catus SPAM1 VGNC VGNC:65600