1. Gene
  2. CNDP1 - carnosine dipeptidase 1 Gene

CNDP1 - carnosine dipeptidase 1 Gene

中文名称:肌肽二肽酶 1

种属: Homo sapiens

同用名: CN1; CPGL2; HsT2308

基因 ID: 84735 | 基因类型: protein coding

关于 CNDP1

Cytogenetic location: 18q22.3 Genomic coordinates (GRCh38): 18:74,534,500-74,587,212 (from NCBI)

This gene has 7 transcripts (splice variants), 139 orthologues and 3 paralogues. Biased expression in brain (RPKM 44.8), liver (RPKM 24.2) and 1 other tissue.

功能概要

该基因编码 M20 金属蛋白酶家族的一个成员。编码的蛋白质在大脑中特异性表达,是一种同型二聚体二肽酶,被鉴定为人肌肽酶。该基因在编码区包含三核苷酸 (CTG) 重复长度多态性。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]

CNDP1 基因产物(1)

mRNA Protein Name
NM_032649.6 NP_116038.4 beta-Ala-His dipeptidase precursor

CNDP1 蛋白结构

Peptidase_M20

Peptidase_M20: Peptidase family M20/M25/M40 (128 - 500)

M20_dimer

M20_dimer: Peptidase dimerisation domain (242 - 399)

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

beta-Ala-His dipeptidase

CNDP dipeptidase 1

重组 CNDP1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7740 Carnosine Dipeptidase 1/CNDP1 Protein, Human (HEK293, His) Q96KN2 (S27-L506) ≥95%

关联疾病

疾病名称 别名
Homocarnosinosis

Homocarnosinase Deficiency

Hereditary Spastic Paraplegia Mental Impairment And Thin Corpus Callosum

Spastic Paraplegia 11

Autosomal Recessive Spastic Paraplegia Type 11

Hereditary Spastic Paraplegia 11

Nakamura Osame Syndrome

Spg11

Spastic Paraplegia - Intellectual Deficit - Thin Corpus Callosum

Serum Carnosinase Deficiency

Gamma-Amino Butyric Acid Metabolism Disorder

Disorder Of Gamma-Aminobutyric Acid Metabolism

Disorder Of Gaba Metabolism

Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism

Microvascular Complications Of Diabetes 3

Diabetic Nephropathy

Microvascular Complications Of Diabetes, Susceptibility To, 3

MVCD3

Nephropathy, Diabetic

Nephropathy, Diabetic, Susceptibility To

End-Stage Renal Disease, Diabetic

End-Stage Renal Disease, Diabetic, Susceptibility To

Diabetic End-Stage Renal Disease

Diabetic Nephropathies

Hypotrichosis 4

HYPT4

Marie Unna Hereditary Hypotrichosis 1

Muhh1

Hypotrichosis, Marie Unna Type, 1

Hypotrichosis Marie Unna 1

Marie Unna Hereditary Hypotrichosis Type 1

Hypotrichosis, Hereditary, Marie Unna Type, 1

Hypotrichosis, Type 4

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Diabetes Mellitus

Diabetes

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 CNDP1 MGD MGI:2451097
Felis catus CNDP1 VGNC VGNC:61008
Bos taurus CNDP1 VGNC VGNC:27493
Canis familiaris CNDP1 VGNC VGNC:39391
Rattus norvegicus CNDP1 RGD RGD:1359493
Macaca mulatta CNDP1 VGNC VGNC:71257
Others CNDP1 NCBI